Zeitschriftenartikel zum Thema „Family Therapy – methods – Case Reports“
Um die anderen Arten von Veröffentlichungen zu diesem Thema anzuzeigen, folgen Sie diesem Link: Family Therapy – methods – Case Reports.
Geben Sie eine Quelle nach APA, MLA, Chicago, Harvard und anderen Zitierweisen an
Machen Sie sich mit Top-50 Zeitschriftenartikel für die Forschung zum Thema "Family Therapy – methods – Case Reports" bekannt.
Neben jedem Werk im Literaturverzeichnis ist die Option "Zur Bibliographie hinzufügen" verfügbar. Nutzen Sie sie, wird Ihre bibliographische Angabe des gewählten Werkes nach der nötigen Zitierweise (APA, MLA, Harvard, Chicago, Vancouver usw.) automatisch gestaltet.
Sie können auch den vollen Text der wissenschaftlichen Publikation im PDF-Format herunterladen und eine Online-Annotation der Arbeit lesen, wenn die relevanten Parameter in den Metadaten verfügbar sind.
Sehen Sie die Zeitschriftenartikel für verschiedene Spezialgebieten durch und erstellen Sie Ihre Bibliographie auf korrekte Weise.
1
Formiga, Cibelle Kayenne Martins Roberto, Jadiane Dionisio, Carolina Fiorone Ribeiro da Silva und Eloisa Tudella. „Caregivers and Physical therapists' Perceptions of Telehealth for infants with Down Syndrome during COVID-19: Case reports“. Research, Society and Development 10, Nr. 3 (16.03.2021): e27710313460. http://dx.doi.org/10.33448/rsd-v10i3.13460.
Der volle Inhalt der QuelleAnnotation:
The aim of this study is to describe the caregivers and physical therapists’ perceptions of telehealth strategies in two cases of infants with Down syndrome during the COVID-19 pandemic in Brazil. Methodology: The physical therapy intervention program was carried out using synchronous and asynchronous methods according to the social context of each family. Results: The telehealth strategies were positively evaluated by caregivers and physical therapists. Conclusion: The study concluded that telehealth has promoted satisfactory results in infants' physiotherapeutic monitoring, and it could be an additional tool for early intervention after the pandemic.
2
Alharbi, Musa, Nahla Ali Mobark, Ali Abdullah O. Balbaid, Fatmah A. Alanazi, Wael Abdel Rahman Aljabarat, Eman A. K. Bakhsh, Murad Turkistani und Malak Abedalthagafi. „HGG-09. FIRST LINE THERAPY OF PEDIATRIC GLIOBLASTOMA WITH LAROTRECTINIB“. Neuro-Oncology 22, Supplement_3 (01.12.2020): iii345. http://dx.doi.org/10.1093/neuonc/noaa222.299.
Der volle Inhalt der QuelleAnnotation:
Abstract PURPOSE In this case report, we document new recommendations for the treatment of pediatric glioblastoma based on a genetic understanding of the disease. PATIENTS AND METHODS A Saudi girl aged 18 months presented with a history of right sided weakness and partial seizures. MRI revealed the presence of large complex left frontal tumor. Craniotomy and gross total resection were performed. post-operatively The patient showed excellent recovery with no neurological deficits. Pathology reports confirmed glioblastoma (GBM). Due to the expected poor survival, the patient’s family declined standard therapy, including chemotherapy and/or radiation therapy. RESULTS Molecular analysis showed positive fusion mutations for ETV6-NTRK3 making the patient an ideal candidate for larotrectinib, an oral tyrosine kinase (TRK) inhibitor. Unfortunately, follow-up MRI showed local tumor recurrence at 3-months post-surgery. The family agreed to the initiation of oral larotrectinib as a less invasive therapy. The patient tolerated Larotrectinib very well with no reported side effects. Follow up MRI was performed 8-weeks post-larotrectinib treatment and showed significant tumor regression, indicating an excellent treatment response. CONCLUSION This case highlights how TRK-inhibitors can be integrated as a first-line therapy for pediatric high grade GBMs harboring TRK-fusions. We also highlight the need for the integration of genomic profiling and molecular analysis into the routine histopathologic analyses of pediatric patients with malignant primary intracranial tumors, to detect any genetic mutations that can be targeted with available therapies to avoid the morbidity associated with non-precision conventional therapies.
3
Morena, Jonathan, Hera Kamdar, Rabia Yasin, J. Chad Hoyle, Adam Quick und Stephen Kolb. „Facial Onset Sensory and Motor Neuronopathy: A Case Series and Literature Review“. RRNMF Neuromuscular Journal 4, Nr. 2 (19.06.2023): 34–42. http://dx.doi.org/10.17161/rrnmf.v4i2.18692.
Der volle Inhalt der QuelleAnnotation:
Introduction: Facial Onset Sensory and Motor Neuronopathy (FOSMN) typically presents with paresthesias in the trigeminal nerve distribution and weakness that progresses rostro-caudally.
Objective: To present two new cases of FOSMN, summarize the current literature, and address areas for future study.
Methods: Observational data was collected from two patients with FOSMN from our institution. A literature review of FOSMN was completed using PubMed.
Results: We identified 100 cases of FOSMN, including our two new cases. 93% presented with facial paresthesias. 97% had bulbar symptoms. Five had family history of ALS. Abnormal Blink reflex was most common on EMG/NCS. CSF was typically normal, but a rare severe case showed elevated protein. Mutations included: TARDBP, OPMD, D90A-SOD1, CHCHD10, VCP, and SQSTM1. Neuropathological studies showed neurodegenerative changes without inflammation. Some cases have reported transient stabilization or improvement to immunomodulatory therapy.
Case Reports: A 72-year-old man presented with right-sided trigeminal paresthesias that progressed in a rostro-caudal fashion, dysphagia, and hand weakness. He died 4-5 years after symptom onset. A 69-year-old man presented with left-sided jaw paresthesias, dysphagia and dysarthria. He was trialed on IVIG for 1.5 years without improvement and died 2.6 years after symptom onset.
Conclusion: FOSMN is a rare disorder with a unique clinical and electrophysiological phenotype. The pathophysiology has been associated with neurodegeneration and multiple gene mutations have correlated to FOSMN. Some reports suggest transient response to immunomodulatory therapy, though prospective studies are lacking. CSF protein elevation may be seen in severe disease. Future studies will help further elucidate the approach to diagnosis, treatment, and prognostic counseling (biomarkers).
4
Hadziahmetovic, Nina, Sabina Alispahic, Djenita Tuce und Enedina Hasanbegovic-Anic. „Therapist’s interpersonal style and therapy benefit as the determinants of personality self-reports in clients“. Vojnosanitetski pregled 73, Nr. 2 (2016): 135–45. http://dx.doi.org/10.2298/vsp140911141h.
Der volle Inhalt der QuelleAnnotation:
Background/Aim. In (counter)transference relationship therapist?s interpersonal style, implying the perceived relation of therapist to a client (patient) in terms of control, autonomy, care and positive feedback, has been shown to be important. The aim of our study was to assess the relationship between therapist?s interpersonal style and clients? personality self-reports. Within therapist?s interpersonal style, preliminary validation of the Therapist?s Interpersonal Style Scale has been conducted, which included double translation method, exploratory factor analysis, confirmatory factor analysis, as well as the reliability tests of the derived components. Methods. This research was conducted on a group of 206 clients, attending one of the four psychotherapy modalities: psychoanalysis, gestalt therapy, cognitive-behavioral and systemic family therapy. Beside Therapist?s Interpersonal Style Scale, Big Five Questionnaire and Therapy Benefit Scale were administered, showing good internal consistency. Results. Principal component analysis of therapist?s interpersonal style singled out two components Supportive Autonomy and Ignoring Control, explaining 42% of variance. Two-factor model of the therapist?s styles was better fitted in confirmatory factor analysis than the original 4-factor model. Structural model showing indirect and direct effects of therapist?s interpersonal styles on selfreports in clients indicates good fitness (?2(12) = 8.932, p = 0.709; goodness-of-fit index = 0.989), with Ignoring Control having direct effect on Stability, Supportive Autonomy on Therapy Benefit, and Therapy Benefit on Plasticity. Conclusion. The results of this study indicate the importance of further research on therapist?s interpersonal style, as well as further validation of the instrument that measures this construct. Besides, a client?s perception that the therapy is being helpful could instigate more explorative and approach-oriented behavior, what indirectly might contribute to a client?s stability.
5
Dos Santos Barroco, Rui, Antonio Candido de Paula Neto, Douglas Hideki Ikeuti, Letícia Zaccaria Prates de Oliveira, Bruno Rodrigues De Miranda und Mahmoud Beerens Abdul Ghani Abdul Ghani. „PO 18205 - Case report“. Scientific Journal of the Foot & Ankle 13, Supl 1 (11.11.2019): 45S. http://dx.doi.org/10.30795/scijfootankle.2019.v13.1033.
Der volle Inhalt der QuelleAnnotation:
Introduction: Anterior tibial tendon ruptures are quite rare. All studies found in the literature refer to the adult population, with no reports of this injury in the pediatric population. The literature on the treatment of this injury is scarce. Objective: To report the case of a child subjected to peroneus brevis tendon transfer for the sequela of a severe anterior tibial and extensor hallucis longus tendon injury. Methods: Male patient, 8 years of age, was run over by a car and sustained an exposed tibial fracture and major soft-tissue injury of the foot. Anterior tibial, posterior tibial and extensor hallucis longus tendon rupture were detected. Damage control, soft-tissue cover and conservative treatment of the anterior tibial and extensor hallucis longus tendons were initially performed; however, the conservative treatment failed, and valgus deformity and pronation developed. Subsequently, tenoplasty (posterior tibial tendon), the Strayer procedure (gastrocnemius recession of the Achilles tendon) and elongation of the peroneus longus and brevis tendons were also performed, but the patient experienced deformity recurrence. Subcutaneous peroneus brevis tendon transfer to the navicular was then chosen, with postoperative use of an ankle-foot orthosis (AFO) and physical therapy. Results: The deformity was improved. The patient progressed with satisfactory gait and strength. He currently walks without support using an AFO. Both the patient and his family were satisfied with the functional outcome of the tendon transfer. Conclusion: Reconstruction of anterior tibial and extensor hallucis longus tendon rupture through peroneus brevis tendon transfer is a viable and reliable treatment option. No complications such as adhesions or correction failure were observed, thus corroborating the viability of this method.
6
Drapkina, O. M., S. A. Boytsov, V. V. Omelyanovskiy, A. V. Kontsevaya, M. M. Loukianov, V. I. Ignatieva und E. V. Derkach. „Socio-economic impact of heart failure in Russia“. Russian Journal of Cardiology 26, Nr. 6 (16.07.2021): 4490. http://dx.doi.org/10.15829/1560-4071-2021-4490.
Der volle Inhalt der QuelleAnnotation:
Heart failure (HF) significantly worsens the patient quality of life and leads to the disability of their significant part, as well as increases the risk of death, which in turn causes economic damage.Aim. To assess the annual socio-economic impact of HF in Russia.Material and methods. To assess the socio-economic impact of HF, a model was developed, which assessed the number of HF patients seeking medical care (data from the epidemiological studies), the number of those with disabilities and the mortality rate among them. We also evaluated the costs of drug therapy (data from the government procurement reports) and hospitalization (data from the compulsory health insurance tariffs), social benefits due to disability, and death impact on the gross domestic product. Data on the prescription rate, hospitalizations and mortality was obtained from Russian registries of patients with cardiovascular diseases. Using the foreign study, the costs of family caregiving were also calculated.Results. According to modeling data, there are 7,1 million people with HF seeking medical care in Russia. In this case, the annual economic impact of HF in the context of government spending, is RUB 81,86 billion, including medical costs of RUB 18,6 billion, direct nonmedical costs of RUB 47,1 billion, and indirect costs of RUB 16,2 billion. The impact of family caregiving is RUB 72,4 billion. In the structure of medical expenses, 73,6% is hospitalization costs, while the main costs of drug therapy are borne by patients, since only a part of them (19,6%) receive the necessary medications within assistance programs. In patients with HF with reduced ejection fraction, medical costs are 56% higher than in patients with HF with preserved ejection fraction.Conclusion. HF causes significant economic burden to the state. Improving the healthcare system for this category of patients, including preferential drug provision, will reduce HF-related mortality, the healthcare system costs and, accordingly, reduce the economic impact on the state and society.
7
Jiang, Chuang, Jiabi Qian, Wenge Hao, Wei LIU, Shuhong Shen, Hua Jiang und Hui Zhang. „Novel MEIS1-FOXO1 Fusion Gene in a Case of Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia“. Blood 132, Supplement 1 (29.11.2018): 5283. http://dx.doi.org/10.1182/blood-2018-99-116354.
Der volle Inhalt der QuelleAnnotation:
Abstract Background: Thanks to the total therapy and systemic basic-translation research, the overall survival rate in children with acute lymphoblastic leukemia (ALL) has dramatically improved to almost 90% over these past few decades. FOXO1 gene belongs to the forkhead family of transcription factors, which play roles in myogenic growth and differentiation. Translocation of FOXO1 with PAX3 has been reported in pediatric alveolar rhabdomyosarcoma. In B-cell precursor ALL, two cases with FOXO1 fusions have been identified already, while its function on ALL remains unknown. Here, we report a novel MEIS1-FOXO1 fusion gene in a case with B-ALL. Methods: Flowcytometery, karyotype, RT-PCR and fluorescence in were employed, MEIS1-FOXO1 was identified as novel fusion gene in a case of pediatric BCP-ALL. Using IL-3 dependent BaF3 cells as study model to test the leukemia transformation potential of MEIS1-FOXO1. Results: A novel MEIS1-FOXO1 fusion was identified in one cease of pediatric B-ALL. Panel next generation sequencing (NGS) showed that the leukemia clone had concurrent NRASG12D, TP53R273H, WHSC1E1099K, ABCC1R1166X, PHGR1H37P, HOXA3P219L and DSTP4606L somatic mutation. This patient was enrolled in CCCG-ALL2015 clinical trial (ChiCTR-IPR-14005706) and achieved completed remission and low minimal residual disease (MRD) level (MRD<0.01%) at day 19 from induction therapy. Functional study showed that MEIS1-FOXO1 fusion gene can potentiate BaF3 cells growth independent of IL3 supplement, as compared to those without MEIS1-FOXO1 fusion transduction. In the meanwhile, we have found that MEIS1-FOXO1 fusion gene can drive cells into S-phase with concurrent decreased G0/G1 phase, which might be its oncogenic role in leukemogenesis. Using qPCR methods, we have found that MEIS1-FOXO1 fusion gene altered the cell cycle related genes expression. Conclusions: Integrating the FOXO1-fusion reports, our data have added more evidence to underline the role of FOXO1 deregulation in the pathogenesis of acute lymphoblastic leukemia. Novel fusion of MEIS1-FOXO1 can potentiate B-ALL via cell cycle entry. Detailed mechanisms involved into the MEIS1-FOXO1 should be further investigated. Figure. Figure. Disclosures No relevant conflicts of interest to declare.
8
Zhylka, Nadiya Ya, Nataliya Yu Pedachenko, Olena S. Shcherbinska, Tetyana St Gruzieva und Lyudmyla V. Pakharenko. „IMPROVEMENT OF THE HEALTH SERVICES FOR THE PREVENTION OF HIV TRANSMISSION FROM MOTHER TO CHILD AT THE LEVEL OF PRIMARY HEALTH CARE“. Wiadomości Lekarskie 75, Nr. 10 (2022): 2507–13. http://dx.doi.org/10.36740/wlek202210136.
Der volle Inhalt der QuelleAnnotation:
The aim: To analyze the problems of PMTCT of HIV and to clarify the ways for their solving through the increasing their obstetrical and gynecological services at the primary health care level. Materials and methods: Bibliosemantic, statistical and method of structural and logical analysis. The research materials are the data of the statistical reports for the period 2016-2020. Conclusions: The analysis of the problems of PMTCT for HIV demonstrated that in Ukraine there is insufficient availability of pregnant women for HIV testing, the excessive duration of the existing algorithm for testing pregnant women for HIV, the imperfect system of referrals of pregnant women for timely diagnosis, as a result, late and therefore less effective the prophylactic antiretroviral therapy (ART), defects in the effectiveness of standardization of health care for the prevention of mother-to-child transmission (PMTCT) of HIV with the participation of primary healthcare specialists, the main representative of which is a general practitioner – family medicine (GP-FD).
9
AlShatnawi, Mohammad, Mohammad Sunoqrot, Basil AlBakri, Mohammad AlOqaily und Saif Aldeen AlRyalat. „A Systematic Review of Subacute Thyroiditis Related to COVID-19“. New Emirates Medical Journal 3, Nr. 1 (April 2022): 35–41. http://dx.doi.org/10.2174/02666211213151545.
Der volle Inhalt der QuelleAnnotation:
Background: The novel severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), which belongs to the family Coronaviridae, is the cause of COVID-19 infection. Its outbreak was declared a pandemic on March 11, 2020. COVID-19 does not involve the respiratory system solely, but other systems were also noted to be affected, including the endocrine, cardiovascular, and gastrointestinal systems. Several case reports and series have been published regarding SAT related to COVID-19 infection, yet management and clinical outcomes of the disease have not been discussed in detail. Methods: This is a systematic review of cases that have been reported to have subacute thyroiditis induced by COVID-19 infection. A systematic search was conducted throughout multiple databases, including PubMed, Google Scholar, and MeSH network. Results: The total number of reported subacute thyroiditis cases attributed to COVID-19 is 24. There was a female predominance (18 females and 6 males) with a female to male ratio of 3:1. Ages ranged from 18 to 69 years (mean = 38.67). Twenty-four symptoms related to thyroiditis were reported, the most common of which being neck pain (95.83%, n=23), palpitations (79.17%, n=19), and fever (66.67%, n=16). The outcome was complete resolution in 70% of cases. Conclusion: The endocrine complications of COVID-19 and their management have been disregarded by most as they are rare. Our knowledge of COVID-19 and its complications is growing rapidly. More favourable outcomes were linked with the use of corticosteroid therapy. Until larger studies can be conducted, the management of SAT caused by COVID-19 remains to be based on each individual case. However, the treatment regimen should include corticosteroid therapy.
10
Leong, Wei Cheng, und Jyh Jong Tang. „Scalp psoriasis and Dermatology Life Quality Index: A retrospective study based on 12-year data from the Malaysian Psoriasis Registry“. Malaysian Family Physician 17, Nr. 3 (20.10.2022): 84–88. http://dx.doi.org/10.51866/oa.146.
Der volle Inhalt der QuelleAnnotation:
Introduction: Psoriasis affects approximately 2–3% of the population worldwide, although the overall prevalence in Asia is <0.5%. Scalp psoriasis is a common initial presentation of psoriasis, which affects almost 80% of patients with psoriasis. Methods: This retrospective descriptive study investigated 1,671 patients with psoriasis with scalp involvement registered with the Malaysian Psoriasis Registry (MPR) from January 2007 to December 2018. Results: A total of 21,859 patients with psoriasis were registered with the MPR during the study period; among them, scalp involvement was seen in 7.6% (n=1,671). Female sex preponderance (61%) was observed in the majority of Malay patients (58.5%), followed by the Chinese (16.9%), Indian (17.1%) and other ethnic patients (7.5%). A positive family history of psoriasis was identified in 22.7% (n=380). Approximately 34.8% (n=581) and 11% (n=172) of the patients had nail changes and psoriatic arthropathy, respectively. The mainstay treatment modality was topical treatment (93.6%), followed by systemic therapy (10%) and phototherapy (0.5%). The comorbidities found among the patients with scalp psoriasis included hypertension (27.9%), obesity (26%), dyslipidaemia (21%), diabetes mellitus (18.4%), ischaemic heart disease (5.4%) and cerebrovascular disease (1.3%). Approximately 23% reported a Dermatology Life Quality Index (DLQI) of >10, which indicated moderate-to-severe impairment. Conclusion: The proportion of patients with psoriasis with scalp involvement in our study (7.6%) is much lower than previous reports. Scalp psoriasis markedly negatively impacts the DLQI.
11
Okado, Izumi, Kevin Cassel, Ian Pagano und Randall F. Holcombe. „Mixed-methods research to evaluate a novel patient-centered cancer care coordination instrument.“ Journal of Clinical Oncology 37, Nr. 27_suppl (20.09.2019): 280. http://dx.doi.org/10.1200/jco.2019.37.27_suppl.280.
Der volle Inhalt der QuelleAnnotation:
280 Background: Effective care coordination (CC) is a critical component of high-quality cancer care; however, efforts to improve cancer care coordination are hampered by limited patient-centered measures. This mixed-methods research reports on patients’ feedback and the utility of a novel care coordination instrument (CCI) designed to assess cancer care coordination. Methods: 7 focus group discussions were conducted with 68 cancer patients receiving active therapy to evaluate validity of the CCI. Subsequently, the CCI was modified and administered to additional 200 cancer patients derived from community-based private and hospital clinics. The CCI is a 29-item, multiple-choice questionnaire and includes subscales that evaluate CC in 3 domains (Communication, Navigation, Operational) across 4 areas of CC (patient-physician; between providers; during inpatient-to-ambulatory care transitions; during transitions across phases of care). Results: Qualitative analysis of focus group discussions demonstrated that the CCI has good face and content validity. Content analysis identified the following themes: Survey, Education/Knowledge, Navigator, Communication, Support, Access, Providers, and Team. Questions with unclear wording or high proportions of not applicable or missing responses were refined or removed. Results of the revised survey indicated that the CCI is able to distinguish patient- and practice characteristics associated with optimal/poor CC. Specifically, cancer types (leukemia, myeloma) and having a patient navigator predicted high overall patients’ ratings of CC ( p < .05). Marginally significant differences were found for practice setting ( p = .085). A multiple regression model with all predictors entered simultaneously revealed that the presence of a family/friend caregiver significantly predicted better CC ( p < .001); however, the benefits of a patient navigator were no longer significant. Conclusions: This study demonstrates the utility of the CCI for assessing patients’ perspectives of cancer CC. Use and integration of this instrument in oncology practices/clinics can identify areas of potential interventions for CC improvement and lead to a better quality of care.
12
Rudichenko, V. M., O. M. Barna und Y. V. Korost. „Final conclusions of the own investigations of combined antihypertensive treatment on clinical state in patients with arterial hypertension without and with diabetes mellitus: use of own materials in education in nation. and Engl. languages at pre- and po“. Medicine of Ukraine, Nr. 1(277) (28.02.2024): 29–39. http://dx.doi.org/10.37987/1997-9894.2024.1(277).299287.
Der volle Inhalt der QuelleAnnotation:
General practice – family medicine department. Object of investigation – patients with confirmed diagnosis of arterial hypertension without and with diabetes mellitus of second type, which were under observation at the primary medical care centers.
The aim of the investigation was the study of efficiency of the combined (calcium channel blocker – amlodipin besilat and angiotensin II receptor antagonist – valsartan) antihypertensive treatment in patients with arterial hypertension combined with diabetes mellitus from the start of the treatment in the practice of primary care physician.
Methods of the investigation included physical examination, general clinical, instrumental and laboratory methods, monitoring of side effects.
As a result it was found, that combined antihypertensive treatment (amlodipin and valsartan) is effective and safe in patients with arterial hypertension and diabetes mellitus of 2 type, which helps to reach the target level of arterial pressure in 72 % of patients and can be recommended from the beginning of the treatment in the practice of family physician. Maximal effect of the treatment in patients with arterial hypertension of II-III degree and diabetes mellitus of 2 type was observed only at 12th week of treatment. At combined antihypertensive treatment (amlodipin and valsartan) they observed tendency to the reduction of left ventricle hypertrophy. Despite the rate and percentage of the reaching of target arterial pressure were lower in the group of patients, which have diabetes mellitus of 2 type, it is necessary to recommend more active modification of the way of life in the named group of patients. It was found reduction of heart and vascular risks in the group of patients with arterial hypertension II–III degree with diabetes mellitus 2 type. This makes the basis for more active modification of life style and using from the start of the treatment combined antihypertensive therapy immediately. Consider all found results using from the start of the treatment combined antihypertensive therapy immediately by the primary care physician is proved for patients with arterial hypertension combined with diabetes mellitus.
Accumulated materials (including theoretical reviews, demonstrative poster reports etc.) are used at training of interns in speciality «general practice – family medicine», during practical classes for higher courses education in national and English languages
13
Alsop, Kathryn, Sian Fereday, Cliff Meldrum, Anna deFazio, Catherine Emmanuel, Joshy George, Alexander Dobrovic et al. „BRCA Mutation Frequency and Patterns of Treatment Response in BRCA Mutation–Positive Women With Ovarian Cancer: A Report From the Australian Ovarian Cancer Study Group“. Journal of Clinical Oncology 30, Nr. 21 (20.07.2012): 2654–63. http://dx.doi.org/10.1200/jco.2011.39.8545.
Der volle Inhalt der QuelleAnnotation:
Purpose The frequency of BRCA1 and BRCA2 germ-line mutations in women with ovarian cancer is unclear; reports vary from 3% to 27%. The impact of germ-line mutation on response requires further investigation to understand its impact on treatment planning and clinical trial design. Patients and Methods Women with nonmucinous ovarian carcinoma (n = 1,001) enrolled onto a population-based, case-control study were screened for point mutations and large deletions in both genes. Survival outcomes and responses to multiple lines of chemotherapy were assessed. Results Germ-line mutations were found in 14.1% of patients overall, including 16.6% of serous cancer patients (high-grade serous, 22.6%); 44% had no reported family history of breast or ovarian cancer. Patients carrying germ-line mutations had improved rates of progression-free and overall survival. In the relapse setting, patients carrying mutations more frequently responded to both platin- and nonplatin-based regimens than mutation-negative patients, even in patients with early relapse after primary treatment. Mutation-negative patients who responded to multiple cycles of platin-based treatment were more likely to carry somatic BRCA1/2 mutations. Conclusion BRCA mutation status has a major influence on survival in ovarian cancer patients and should be an additional stratification factor in clinical trials. Treatment outcomes in BRCA1/2 carriers challenge conventional definitions of platin resistance, and mutation status may be able to contribute to decision making and systemic therapy selection in the relapse setting. Our data, together with the advent of poly(ADP-ribose) polymerase inhibitor trials, supports the recommendation that germ-line BRCA1/2 testing should be offered to all women diagnosed with nonmucinous, ovarian carcinoma, regardless of family history.
14
Lockard, Kathleen L., Elizabeth Dunn, Nicole Kunz, Amanda Pearsol, Richard D. Schaub, Donald A. Severyn, Douglas Lohmann et al. „Evaluation of a Health Care Performance Improvement Initiative to Facilitate Optimal Clinical Outcomes in Patients Receiving Ventricular Assist Device Support“. Progress in Transplantation 30, Nr. 4 (28.09.2020): 376–81. http://dx.doi.org/10.1177/1526924820958129.
Der volle Inhalt der QuelleAnnotation:
Background: Ventricular assist device (VAD) patients are at high risk for morbidities and mortality. One potentially beneficial component of the Joint Commission VAD Certification process is the requirement that individual VAD programs select 4 performance measures to improve and optimize patients’ clinical outcomes. Problem Statement: Review of patient data after our program’s first certification visit in 2008 showed that, compared to national recommendations and published reports, our patients had suboptimal outcomes in 4 areas after device implantation: length of hospital stay, receipt of early (<48 hours) postsurgical physical therapy, driveline infection incidence, and adequacy of nutritional status (prealbumin ≥18 mg/dL). Methods: Plan-Do-Study-Act processes were implemented to shorten length of stay, increase patient receipt of early physical therapy, decrease driveline infection incidence, and improve nutritional status. With 2008 as our baseline, we deployed interventions for each outcome area across 2009 to 2017. Performance improvement activities included staff, patient, and family didactic, one-on-one, and hands-on education; procedural changes; and outcomes monitoring with feedback to staff on progress. Descriptive and inferential statistics were examined to document change in the outcomes. Outcomes: Across the performance improvement period, length of stay decreased from 40 to 23 days; physical therapy consults increased from 87% to 100% of patients; 1-year driveline infection incidence went from 38% to 23.5%; and the percentage of patients with prealbumin within the normal range increased from 84% to 90%. Implications: Performance improvement interventions may enhance ventricular assist device patient outcomes. Interventions’ sustainability should be evaluated to ensure that gains are not lost over time.
15
Oji, Valerie, und Bailey Powell. „Multidisciplinary Perceptions and Considerations for Spiritual Care and Biblical Framework Counseling in Mental Health“. Christian Journal for Global Health 11, Nr. 1 (25.02.2024): 64–83. http://dx.doi.org/10.15566/cjgh.v11i1.845.
Der volle Inhalt der QuelleAnnotation:
Background: Religious/Spiritual (R/S) care is often desirable by mental health clients for culturally sensitive, patient-focused treatment; yet providers may experience hesitancy or overlook this need and treatment guidelines are limited. The aim of this qualitative study was to explore existing R/S care, as well as perspectives on what support care would be considered for patients choosing BFC. This is part of a project to collaboratively extend population-based mental health care access in resource–constrained communities of both the US, a High-Income Country (HIC) and Low-to-Middle Income Countries (LMICs) in Africa.
Methods: A qualitative literature synthesis, then an online survey was conducted with 54 multidisciplinary participants recruited via snowballing. Survey participants were asked to review a case as described by a BFC provider and respond anonymously to an open-ended questionnaire. The data collected was distilled with qualitative coding and thematic analysis.
Results: Literature synthesis identified multidisciplinary health professional provision of R/S, medical and/or psychological interventions as monotherapy or integrated strategies. There was a paucity of medical education guidelines. Qualitative themes included willingness to coordinate care for BFC clients, to what capacity should care be provided, and perceptions of BFC efficacy. R/S care was often integrated as part of a holistic treatment approach. Scheduled BFC patient follow-ups, ethical hand-offs or referrals were considered important for majority of survey respondents based on comfort-level with biblical counseling and perceived relapse potential. Spiritual growth and maintenance, medication management, and individual psychotherapy were recommended by survey respondents. There were contrasts in BFC and non-R/S provider perspectives on pertinent mental health history and inferences from the case. Significant information for patient support included symptoms and confirmatory diagnosis, medical comorbidities, relevant childhood issues, faith-health beliefs, family history and genetics, medication and therapy adherence, and substance use. Faith-health belief congruence of providers with BFC patients and ethical decision-making should be considered. Graduate Medical Education (GME) and other health professional programs may incorporate these considerations, existing R/S interventions, and multidisciplinary provider scope of practice as options for clinician training. Future research steps should include growing the body of anecdotal case reports, evidence-based case series and implementation science studies across a broader range of mental disorders.
16
Meadows, Anna T., Debra L. Friedman, Joseph P. Neglia, Ann C. Mertens, Sarah S. Donaldson, Marilyn Stovall, Sue Hammond, Yutaka Yasui und Peter D. Inskip. „Second Neoplasms in Survivors of Childhood Cancer: Findings From the Childhood Cancer Survivor Study Cohort“. Journal of Clinical Oncology 27, Nr. 14 (10.05.2009): 2356–62. http://dx.doi.org/10.1200/jco.2008.21.1920.
Der volle Inhalt der QuelleAnnotation:
Purpose To review the reports of subsequent neoplasms (SNs) in the Childhood Cancer Survivor Study (CCSS) cohort that were made through January 1, 2006, and published before July 31, 2008, and to discuss the host-, disease-, and therapy-related risk factors associated with SNs. Patients and Methods SNs were ascertained by survivor self-reports and subsequently confirmed by pathology findings or medical record review. Cumulative incidence of SNs and standardized incidence ratios for second malignant neoplasms (SMNs) were calculated. The impact of host-, disease-, and therapy-related risk factors was evaluated by Poisson regression. Results Among 14,358 cohort members, 730 reported 802 SMNs (excluding nonmelanoma skin cancers). This represents a 2.3-fold increase in the number of SMNs over that reported in the first comprehensive analysis of SMNs in the CCSS cohort, which was done 7 years ago. In addition, 66 cases of meningioma and 1,007 cases of nonmelanoma skin cancer were diagnosed. The 30-year cumulative incidence of SMNs was 9.3% and that of nonmelanoma skin cancer was 6.9%. Risk of SNs remains elevated for more than 20 years of follow-up for all primary childhood cancer diagnoses. In multivariate analyses, risks differ by SN subtype, but include radiotherapy, age at diagnosis, sex, family history of cancer, and primary childhood cancer diagnosis. Female survivors whose primary childhood cancer diagnosis was Hodgkin's lymphoma or sarcoma and who received radiotherapy are at particularly increased risk. Analyses of risk associated with radiotherapy demonstrated different dose-response curves for specific SNs. Conclusion Childhood cancer survivors are at a substantial and increasing risk for SNs, including nonmelanoma skin cancer and meningiomas. Health care professionals should understand the magnitude of these risks to provide individuals with appropriate counseling and follow-up.
17
Santos, Ardiles Vitor, Elisabete Cristina Morandi Santos, Camila Melo Picone, Tulio Gamio Dias, Sandra Maria Lima Ribeiro, Alex Antonio Florindo und Aluisio Cotrim Segurado. „Incorporating physical activity in the comprehensive care of people living with HIV starting antiretroviral therapy: Insights from a specialized care setting in São Paulo, Brazil“. PLOS ONE 16, Nr. 7 (01.07.2021): e0254168. http://dx.doi.org/10.1371/journal.pone.0254168.
Der volle Inhalt der QuelleAnnotation:
Background Managing HIV infection as a chronic condition includes encouraging adoption of healthy behaviors and promotion of physical activity (PA). However, people living with HIV (PLH) are often under social and programmatic vulnerability that may compromise behavior change. Understanding such barriers is crucial for successful incorporation of PA in their comprehensive care. Methods and findings In this study, we describe PA, energy intake from diet, and anthropometry of a cohort of PLH starting antiretroviral therapy (ART) at a Brazilian reference clinic, report how PA was addressed in routine care and investigate association between PA, energy intake and psychosocial constructs that may facilitate PA (social support and self-efficacy for PA). Among 61 PLH (86.9% males, mean age = 32.5 years) anthropometry was normal, but 47.5% reported PA below recommendations. Despite presenting high social support scores, family encouragement for PA was low, and self-efficacy classified as medium. Chart reviews yielded infrequent reports concerning PA. After adjusting for gender and age, we found a negative association between energy intake from diet and self-efficacy, but none between PA and energy intake or between PA and psychosocial constructs. Conclusions We conclude that patients in our cohort were insufficiently active when starting ART, and that PA was poorly addressed by caretakers in routine HIV care. Nevertheless, social support and self-efficacy scores suggest potential for behavioral change. Caregivers should therefore start considering patients’ vulnerabilities and establishing strategies to help them overcome barriers to incorporate PA in their comprehensive care effectively.
18
Salah, Samir, Delphine Kerob, Cécile Pagès, Mario E. Lacouture und Vincent Sibaud. „Skin adverse events of anti-cancer treatments: An examination of drug-AE associations.“ Journal of Clinical Oncology 41, Nr. 16_suppl (01.06.2023): e18885-e18885. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.e18885.
Der volle Inhalt der QuelleAnnotation:
e18885 Background: Although anti-cancer treatments, including chemotherapy (CTs), targeted therapies (TTs), radiation therapy, and immunotherapy (ITs), are effective to treat cancer, they can be associated with significant skin-related toxicities (AEs). These AEs can cause discomfort and even lead to the discontinuation of therapies. However, a comprehensive estimation of the associations between cancer drug use and skin AEs is currently lacking. This study aimed to investigate these associations using a large dataset. Methods: This study utilized the US FDA Adverse Reporting System (FAERS) dataset, with a focus on HCPs reports from January 2013 to September 2022. The dataset consists of 3399830 reports involving 3084 all-field drugs and 16347 AEs. To minimize false positives, we employed a nearest-neighbor matching model to identify 10 control reports for each case report based on cosine distance on demographic and severity factors. To manage multiple comparisons and control the family-wise error rate (FWER) to 5%, we applied the Bonferroni correction. Results: A total of 146 marketed anti-cancer drugs were identified in the database with at least 5 reports of skin AEs. Out of the 2757 drug-AE pairs, 708 displayed a significant reporting odds ratio (ROR) greater than one, consisting of 102 drugs and 135 skin AEs. The minimum ROR was 1.25, and 50% of the associations displayed a ROR above 11. Rash was significantly associated with 44 drugs and dry skin with 25 drugs. Methotrexate was significantly associated with 35 different AEs and anti-BRAF vemurafenib with 26 AEs. TCs were present in 57% of the pairs, CTS in 38%, and immune checkpoint blocking agents in 5%. Multikinase-I were present in 15% of the pairs, followed by antimetabolites (14%). Considering the relative weight of skin AEs on the safety profile of the drugs, skin AE were present on average in 11% of the drug reports, with a maximum of 51% for mechlorethamine. 12% of reports concerning CTs contained a skin AE, 11% for TTs, and 8% for ITs. For CTs, 13% of reports about antimetabolites contained a skin AE, followed by taxanes (12%). Vinca-alkaloids and topoisomerase-I were less impacted with 6% of skin AE reports. For TCs, 23% of reports about EGFR inhibitors contained a skin AE, followed by BRAF inhibitors (21%). PARP inhibitors and BTK inhibitors were less impacted with 8% of skin AE reports. Conclusions: This study used a large dataset to examine the associations between cancer drugs and skin AEs. 146 anti-cancer drugs were found to have skin AEs, with rash and dry skin being the most reported AEs in the associations. TTs were most associated with skin AEs, followed by CTs. Methotrexate and vemurafenib had the most important number of associations. These data don’t allow evaluation of the incidence of skin AE effect with anti-cancer drugs as they are probably under-reported, but the findings emphasize the importance of monitoring skin AEs in patients exposed to anti-cancer treatments.
19
Mbalinda, Scovia N., Dan K. Kaye, Mathew Nyashanu, Noah Kiwanuka und Robert Gaspar. „Using Andersen’s Behavioral Model of Health Care Utilization to Assess Contraceptive Use among Sexually Active Perinatally HIV-Infected Adolescents in Uganda“. International Journal of Reproductive Medicine 2020 (28.09.2020): 1–9. http://dx.doi.org/10.1155/2020/8016483.
Der volle Inhalt der QuelleAnnotation:
Background. Contraceptive practices of perinatally HIV-infected adolescents (PHIAs) have implications related to pregnancy prevention, risks of HIV heterosexual transmission, reinfection, and vertical transmission. The study assessed contraceptive use among sexually active PHIAs in Uganda. Methods. Mixed methods consisting of a survey and in-depth interviews were employed among 213 sexually active PHIAs who were attending antiretroviral therapy (ART) clinics. The study was guided by Andersen’s Behavioral Model of Health Service Use as a theoretical framework to identify factors that influence contraceptive use. These factors include health care factors, personal characteristics, enabling factors, and needs. The outcome was contraceptive use. Multivariable logistic regression was used to establish determinants of contraceptive use. Qualitative data were analyzed by thematic analysis. Results. Most PHIAs were female (67.6%); the mean (SD) and median (IQR) age was 17.5 (±1.4) and 18 (17-19) years. The mean age of sexual debut and at marriage were 15 (±1.7) and 17 (±1.1), respectively. Condoms were the most known method of family planning (indicated by 55.4%). Only 16.9% of the participants knew about dual protection (condom use for FP as well as HIV/STI prevention). Of the PHIAs, 43.6% had ever used modern contraception and 56.9% of the females had ever been pregnant. The odds of contraceptive ever-use were significantly higher among adolescents aged 17-19 years (OR 5.1, 95% CI: 2.1-13.3) compared to those aged 10-16 years, those in school (OR 1.8, 95% CI: 1.07-3.2) compared to those out of school, and those with perceived need to use FP (OR 2.0, 95% CI: 1.1-3.9) compared to their counterparts. The odds of contraceptive used were lower among females (OR 0.13, 95% CI: 0.06-0.28) compared to males. From the in-depth interviews, the attitude of health workers, availability of health workers, having a friend using family planning, and waiting time were viewed to affect contraceptive use. Conclusion. Contraceptive use among sexually active perinatally HIV-infected adolescents was (43.6%). However, out of those who used family planning majority were using short-term methods. The unmet need for family planning was high (47%) with high reports of pregnancy (56.9%). The factors associated with contraceptive use included education, age, sex (predisposing factors), and perceived need of family planning (need factors). Other factors that could affect contraceptive use from qualitative analysis included attitude of health workers, availability of health workers, having a friend using family planning (predisposing factors), and waiting time (health system factors). HIV care for adolescents should be promoted using SRH approach. There is a need to provide training for all providers to cater for SRH services. We should continue to provide youth-responsive adolescent sexual and reproductive health services across all ART facilities and build a supportive environment and continue to integrate SRH services into HIV care.
20
Knoll, Rebecca L., Kristoffer Forslund, Jens Roat Kultima, Claudius U. Meyer, Ulrike Kullmer, Shinichi Sunagawa, Peer Bork und Stephan Gehring. „Gut microbiota differs between children with Inflammatory Bowel Disease and healthy siblings in taxonomic and functional composition: a metagenomic analysis“. American Journal of Physiology-Gastrointestinal and Liver Physiology 312, Nr. 4 (01.04.2017): G327—G339. http://dx.doi.org/10.1152/ajpgi.00293.2016.
Der volle Inhalt der QuelleAnnotation:
Current treatment for pediatric inflammatory bowel disease (IBD) patients is often ineffective, with serious side effects. Manipulating the gut microbiota via fecal microbiota transplantation (FMT) is an emerging treatment approach but remains controversial. We aimed to assess the composition of the fecal microbiome through a comparison of pediatric IBD patients to their healthy siblings, evaluating risks and prospects for FMT in this setting. A case-control (sibling) study was conducted analyzing fecal samples of six children with Crohn’s disease (CD), six children with ulcerative colitis (UC) and 12 healthy siblings by metagenomic sequencing. In addition, lifetime antibiotic intake was retrospectively determined. Species richness and diversity were significantly reduced in UC patients compared with control [Mann-Whitney U-test false discovery rate (MWU FDR) = 0.011]. In UC, bacteria positively influencing gut homeostasis, e.g., Eubacterium rectale and Faecalibacterium prausnitzii, were significantly reduced in abundance (MWU FDR = 0.05). Known pathobionts like Escherichia coli were enriched in UC patients (MWU FDR = 0.084). Moreover, E. coli abundance correlated positively with that of several virulence genes (SCC > 0.65, FDR < 0.1). A shift toward antibiotic-resistant taxa in both IBD groups distinguished them from controls [MWU Benjamini-Hochberg-Yekutieli procedure (BY) FDR = 0.062 in UC, MWU BY FDR = 0.019 in CD). The collected results confirm a microbial dysbiosis in pediatric UC, and to a lesser extent in CD patients, replicating associations found previously using different methods. Taken together, these observations suggest microbiotal remodeling therapy from family donors, at least for children with UC, as a viable option. NEW & NOTEWORTHY In this sibling study, prior reports of microbial dysbiosis in IBD patients from 16S rRNA sequencing was verified using deep shotgun sequencing and augmented with insights into the abundance of bacterial virulence genes and bacterial antibiotic resistance determinants, seen against the background of data on the specific antibiotic intake of each of the study participants. The observed dysbiosis, which distinguishes patients from siblings, highlights such siblings as potential donors for microbiotal remodeling therapy in IBD.
21
Fekar Gharamaleki, Fatemeh, Hourieh Ahadi, Mehdi dastjerdikazemi, Pouan bagherpour, Akbar Darouie, Abbas Ebadi, fariba yadegar, Salah Eddin Karimi und Gelavizh karimijavan. „Determinants of Language Impairment in Turkish-Persian Bilingual Children“. Scientific Journal of Rehabilitation Medicine 10, Nr. 5 (06.03.2022): 0. http://dx.doi.org/10.32598/sjrm.10.5.8.
Der volle Inhalt der QuelleAnnotation:
Background and Aims: Bilingual children are sometimes over-identified with language impairment and sometimes their language impairment under-identified that in either case, proper intervention is not possible. Accurate measurement of bilingual child language development involves assessing both of their languages. The purpose of this study was to identify a set of measures that would discriminate language impairment in bilingual Turkish-Persian children aged 5 to 7 years in Tehran. Materials and Methods: In this descriptive-analytical study, the language sample of 24 bilingual children with no language impairment and 8 bilingual children with language impairment was analyzed according to the linguistic measures of mean length of Terminable-unit, number of total words, number of different words, and number of grammatical errors per Terminable-unit. Children without language impairment were selected from kindergartens and schools by multi-stage cluster sampling method. Language-impaired children were selected by the Speech-Language Pathologist with at least three years of bilingual speech and language pathology services from Tehran-based speech therapy clinics in an accessible manner. There was no significant difference between the groups in terms of nonverbal intelligence, age of exposure and duration of exposure to Persian. Parents responded to questions about their perceptions of their children’s speech and language skills and family history of speech and language problems. Results: Diagnostic analysis indicated that 3 measures discriminated the groups of children with sensitivity 87.5%: the Parent Report Questionnaire, number of total words, and mean length of T-unit. Conclusion: According to the results, Indicators of parental reports and language criteria in identifying the language damage of Turkish-Persian bilingual children can be of diagnostic use for speech and language pathologists.
22
Bibik, O. I. „Opisthorchosis is a topical health problem (problem overview and analysis)“. Russian Journal of Parasitology 14, Nr. 4 (21.12.2020): 38–49. http://dx.doi.org/10.31016/1998-8435-2020-14-4-38-49.
Der volle Inhalt der QuelleAnnotation:
The purpose of the research is analyzing literature sources to establish the role of opisthorchosis in health care and assessing the relevance of histological and histochemical methods in determining the efficacy of drugs against helminths which are causative agents of opisthorchosis.Materials and methods. We analyzed literature sources on the study of opisthorchosis, its pathogen spread and its significance for public health. We also reviewed the official documentation of the annual reports presented on the official websites.Results and discussion. In 2018, more than 19.0 thousand cases of opisthorchosis were recorded in the country (rate is 12.99 per 100 thousand population), which made up 79.5% of all recorded bio-helminthosis in the population. Opisthorchosis is characterized by long course and proceeds with frequent exacerbations. The most serious complication is cancer in the liver, bile ducts and pancreas, which are organs of opisthorchis parasitism. The works of many authors reveal the connection and high incidence of cholangiocarcinoma in patients with opisthorchosis in countries with endemic sites of Opisthorchiidae family representative’s infection. Long-term opisthorchosis infection reduces the efficacy of anthelmintic therapy and leads to the appearance of the disease recurrent forms. Opisthorchis viverrini was officially recognized as a Group 1 biological carcinogen by the International Agency for Research on Cancer in 2009. The carcinogenic role of O. felineus has not yet been sufficiently studied. However, life cycles, morphology and localization in the human body of O. viverrini and O. felineus are similar. In the list of established medicinal products with opisthorchocidal action, special attention and interest are paid to herbal products. Histological and histochemical research methods confirmed the efficacy against such herbal preparations as ecorsol, erlim and artemisin.
23
Millis, Sherri Z., Sydney Marsh, Cristina Pecci, Sai-Sridhar Boddupalli, Jeffrey S. Ross, Phil Stephens, Vincent A. Miller, Siraj Mahamed Ali und Jue Wang. „Identification of novel fumarate hydratase gene alterations in prostate cancer.“ Journal of Clinical Oncology 35, Nr. 15_suppl (20.05.2017): 11585. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.11585.
Der volle Inhalt der QuelleAnnotation:
11585 Background: Fumarate hydratase (FH), an enzyme involved in the Krebs cycle, plays a crucial role in the generation of energy and oxygenation of cells. Genomic alterations (GAs) of FH, a tumor suppressor gene, have been shown to cause chronic hypoxia that encourages tumor formation and have been linked to hereditary leiomyomatosis and renal cell cancer. Only few reports have associated FH mutations with other cancers, and none in prostate cancer. Methods: Identification of an FH V435M pathogenic alteration, which likely changes fumarate binding kinetics, in a prostate cancer patient, with negative family history for renal cancer and cutaneous leiomyomatosis, led to review of a database of 1781 prostate cancer patients, whose tissue was assayed by hybrid-capture based comprehensive genomic profiling (CGP) in the course of clinical care to evaluate genomic alterations (GA: base substitutions, indels, amplifications, copy number alterations, fusions/rearrangements) and targeted therapy opportunities. Tumor mutational burden (TMB) was calculated from a minimum of 1.11 Mb sequenced DNA and reported as mutations/Mb. Results: Profiling identified 49 prostate adenocarcinoma patients (3%) with FH gene alterations, 2 of which harbored the V435M GA identified in the original prostate patient. Ten of 40 alterations were H476_k477 insertions, in the C terminus domain, and 14 were amplifications. The rest were variants of unknown significance (VUS). Conclusions: A FH GA, known to impact other cancers, found in a prostate cancer, led to the discovery of a frequency that suggests deregulation of metabolic pathway activation may contribute to prostate cancer pathogenesis for a subset of patients. The somatic FH GA’s are likely to be substantially more common than germline mutations, and identifying metabolic-enzyme mutations that are pathogenic in prostate cancer could lead to pharmacologic manipulations that are more effective and less toxic than existing therapies. No FDA approved therapies currently exist for this patient’s tumor type nor of any other tumor type with FH GA’s. In our case, alterations in the C-terminal binding domain of FH might inform drug development.
24
Foster, Larry, Linda McLellan, Lisa Rybicki und Brian Bolwell. „Ethical Reasoning About Allogeneic Bone Marrow Transplantation and Patient Eligibility Based on Psychosocial Criteria.“ Blood 110, Nr. 11 (16.11.2007): 635. http://dx.doi.org/10.1182/blood.v110.11.635.635.
Der volle Inhalt der QuelleAnnotation:
Abstract Purpose: Bone marrow transplantation has been given insufficient attention as a context for clinical ethics. Of concern are the patient and family who disagree with a BMT program’s “do not proceed” decision based on psychosocial issues and who request an ethics review. In follow-up to a 2006 national survey in which patients were determined not to be appropriate candidates for allogeneic (allo) BMT based on select psychosocial risk factors, this study reports on whether ethicists agreed with decisions of their oncology colleagues and how they justified their agreements/disagreements. Methods: A self-administered questionnaire was sent to chairpersons of ethics committees at hospitals with a BMT Program that does adult allo BMT, is accredited by the Foundation for the Accreditation of Cellular Therapy, and is designated as a National Marrow Donor Program Transplant Center. The questionnaire included six case vignettes on which oncology physicians, nurses, and social workers in the 2006 study agreed not to proceed with allo BMT based on a patient having one of the following psychosocial risk factors: suicidal ideation; use of addictive, illicit drugs; history of non-compliance with treatment; lives far from the hospital and has no caregiver; drinks daily and is told he is an alcoholic; and has mild dementia from early onset of Alzheimer’s disease. In each case allo BMT is the only curative option, the patient has leukemia, has a matched donor, and both patient and family want to proceed. Results: The survey response rate was 37%. On average, ethicists were older than professionals from each of the three other groups. Percentage of male ethicists was higher than nurses or social workers, but lower than physicians. Ethicists’ years of experience were similar to physicians, but more than nurses or social workers. The opinion of ethicists regarding whether or not to proceed with BMT differed from the other three professional groups on one case only, a patient with mild dementia from early onset of Alzheimer’s disease. For this case, 27% of ethicists recommended not proceeding with BMT; this was significantly lower than the do not proceed recommendation from nurses (68%, P<0.001), physicians (63.5%, P<0.001), and social workers (51.9%, P= 0.05). As with BMT clinicians, ethicists’ decisions in all six cases were often conditional but appealed more to ethical ideals, especially in the case of patients with mild dementia; thematic were concerns about doing good (beneficence), avoiding harm (non-maleficence), potential for quality of life, and a fair allocation of resources (justice). Conclusions: Access to health care is commonly understood to be an ethical issue, but the gravity of BMT as a potentially life saving decision adds urgency to the issue. BMT clinicians can be reassured that, for the most part, ethicists concur with their “do not proceed” decisions. That ethicists appear reluctant to attempt to over-rule clinicians, except in the case of mild dementia, may reflect the ethicists’ ideal of maximizing potential to do good in conflict with the clinicians’ bedside reality of minimizing potential harms to a patient who lacks decisional capacity and may be unable to comply with difficult treatment protocols. Ethics consults may prove a helpful resource when patients/families disagree with BMT programs’ decisions to base eligibility on psychosocial as well as biomedical criteria.
25
Tirodkar, Manasi, Mark W. Friedberg, Shelley Fuld Nasso, Lindsey M. Roth, Aaron Smith-McLallen, Ellen L. Stovall und Sarah Hudson Scholle. „Patient surveys for cancer populations: Initial experiences with Cancer CAHPS.“ Journal of Clinical Oncology 34, Nr. 7_suppl (01.03.2016): 281. http://dx.doi.org/10.1200/jco.2016.34.7_suppl.281.
Der volle Inhalt der QuelleAnnotation:
281 Background: Patient experiences are an important component of quality, but information on how well oncology providers meet the specific needs of patients with cancer is limited. This study reports on the patient experiences among patients undergoing drug therapy treatment for cancer in diverse outpatient settings. Methods: We assessed patient experiences using a modified version of the CAHPS Survey for Cancer Caredeveloped by the American Institutes for Research.The survey has five composites and an overall rating of providers. We used claims data from an insurance plan in Southeastern Pennsylvania to identify all patients who had a paid claim for drug therapy treatment at 26 practices from January 1 through July 31, 2014. The survey was sent to 2,302 patients who met this criteria and 701 patients returned a completed survey for a response rate of 31%. We calculated scores of 0-100 on the composites after adjusting for age, education, self-rating of mental health and response tendency (a measure of level of optimism/pessimism). Results: In general, cancer patients rated their providers highly on patient experience, particularly on access and communication. However, cancer patients rated their providers lower on shared decision-making and helping patients manage their symptoms and care at home. The scaled, adjusted scores on the five composites were: Access (score=91; 95% CI=90-92); Affective communication (score=90; 95% CI=88-91); Exchanging information/keeping patients up to date (score=89; 95% CI=88-90); Shared decision-making (score=78; 95% CI=76-80); Enabling patient self-management (score=69; 95% CI=67-71). We encountered several challenges in fielding the survey related to attributing patients to specific practice sites, identifying patients who had died, and concerns raised by patients/family respondents about the length or content of the survey. Conclusions: Our findings suggest the need for strong efforts to engage cancer patients in decision-making and provide supportive care. Methodology for sampling patients using claims data needs to be more accurate and the survey could be edited for length and comprehension.
26
Sandman, Karen E., und Timothy J. Bell. „Patient-Focused Benefits of at-Home Versus in-Clinic Administration of Cancer Therapy: New Considerations for the COVID-19 Era“. Blood 136, Supplement 1 (05.11.2020): 35–36. http://dx.doi.org/10.1182/blood-2020-137560.
Der volle Inhalt der QuelleAnnotation:
Introduction: Cancer treatment includes conventional clinic-based infusions and various options for home administration of medication. Clinic-based treatment can be disruptive and costly to patients and caregivers, requiring transportation, time away from work/family responsibilities, and stressful clinical settings. The COVID-19 pandemic has increased concerns that patients may be exposed-or experience anxiety about exposure-to viruses and other pathogens. Potential benefits to home-based chemotherapy include cost/healthcare resource utilization savings and decreased infection exposure by avoiding clinical settings. In the COVID-19 era, ASH, ASCO, ESMO, and other groups have recommended home administration of chemotherapy, including infusions at home and self-administered oral and subcutaneous treatments, for certain cancer types where feasible. This literature review evaluated patient- and caregiver-relevant advantages of home-administered cancer therapy. Methods: A strategic literature review was conducted using the pearl growing/snowball method, wherein core publications were identified using an initial PubMed search strategy with the MeSH heading "Antineoplastic Agents/Administration & Dosage" and the search terms "Home Care Services" and "Patient Satisfaction." Results were limited to English-language publications dated January 2000 to July 2020, ≥10 study subjects, adult subjects only, with no limits for geography or cancer type. A total of 21 initial results were retrieved in PubMed. Six core publications were used to establish keywords and for bibliographic and prospective citation searches to identify additional relevant publications relating to patient preference and patient/caregiver-reported outcomes regarding cancer treatment administration settings. In addition to PubMed, the following congresses were searched: ASH (2004-2019), ASCO (2011-2020), EHA (2016-2019) and ESMO (2010-2019). Results: Thirty-one studies involving both hematologic cancers and solid tumors were identified from North and South America, Europe, Asia, and Australia. Cancer therapy was administered by patients/caregivers (ie, oral or subcutaneous) or a visiting nurse. All the studies reviewed reported benefits for home- vs clinic-based treatment. Patient expressed preference/satisfaction and willingness to continue with home-based regimens; while methodologies varied among studies, 70% to 100% of patients preferred home administration. Across studies, over half of patients receiving home treatment cited improvement in outcomes including well-being, activities of daily living, and family/social life, with benefits including convenience, comfort, reduced travel/financial burden, limited waiting time, and greater ability to maintain daily family/social activities. The impact on patient health-related quality of life (HRQoL) could not be compared quantitatively among studies as <25% of the studies used validated tools, e.g., EORTC-QOL-C30. Among studies using validated tools, HRQoL outcomes were generally similar for patients treated at home or in-clinic. There were very few reports of patients needing or choosing to return to clinic-based care after initiating home treatment. Studies that captured safety outcomes did not report increased adverse effects or emergency room visits among patients treated at home. Of the 3 studies reporting caregiver outcomes, most caregivers expressed satisfaction with and preference for home treatment. Conclusions: The prioritization of therapies that can be administered at home has been proposed as a strategy for infection control in the COVID-19 era, but it is not currently a standard approach in the US. This targeted literature review consistently found patient-relevant benefits with home-administered chemotherapy. The identified studies provided minimal information on caregiver-reported outcomes, which is a limitation given that home-based cancer treatment impacts caregivers as well as patients. Home-based treatment may enhance quality of survival time and reduce healthcare resource utilization while maintaining clinical benefits of treatment and reducing contact with people in a busy clinical setting. While treatment decisions should consider patient preference for home-based treatment, some patients' treatment pathways will require care at an outpatient or inpatient facility. Disclosures Sandman: Pfizer Inc.: Consultancy. Bell:Pfizer: Current Employment, Current equity holder in publicly-traded company.
27
Love, Neil, Sagar Lonial, Kathryn Ziel, Douglas Paley, Melanie Elder und Aviva Asnis-Alibozek. „The Use of An Online Case Database to Obtain Clinical and Psychosocial Information Related to the Selection of and Experience with Initial Systemic Therapy for Multiple Myeloma.“ Blood 114, Nr. 22 (20.11.2009): 1408. http://dx.doi.org/10.1182/blood.v114.22.1408.1408.
Der volle Inhalt der QuelleAnnotation:
Abstract Abstract 1408 Poster Board I-430 Background: Historically, available information on the clinical course of patients with cancer has been primarily derived from clinical trial reports, and population and hospital registries such as SEER and the American College of Surgeons. While these resources provide useful data on traditional clinical factors, presentation of the results can be delayed, the findings may not be reflective of community-based practice, and psychosocial variables are generally not included. To address these issues, we designed a web-based tool to gather multidimensional information in a rapid and reliable manner, which was pilot-tested in multiple myeloma (MM). Methods: A 60-question case form was developed that requested information on presenting symptoms, diagnostic workup, treatment selection and the treating physician's perceptions and observations of a number of psychosocial variables. US community-based medical oncologists were recruited to enter anonymous case data on patients in their practices diagnosed with MM since January 1, 2008. Invited physicians had previously participated in CME programs developed by our group, and were provided modest, per-patient honoraria. Results: From April 10-27, 2009, 41 physicians entered a total of 203 MM cases in the data bank (minimum 2 cases, maximum 10, median 5). The median patient age was 67, 60% were men, 54% were retired, 97% had health insurance and 64% lived with a spouse or partner, most of whom accompanied the patient to office visits. In 64% of cases, physicians believed that patients had “a great deal” of family support. In 80%, the patient was considered “very or somewhat” proactive toward obtaining medical information, and in 64% the oncologist provided a quantitative estimate of long-term survival. Physicians considered 71% of patients “calm and accepting” of the diagnosis. Only 36% of patients were PS 0, and multiple cancer-related symptoms were common. ISS staging and the use of cytogenetic analyses were inconsistent (Table 1). A variety of systemic regimens were initiated, and treatment resulted in “significant” or “major” toxicities in 21%. The most common side effects were fatigue (47%), neutropenia (28%), thrombocytopenia (25%) and peripheral neuropathy (24%). Bisphosphonates were administered to 77% of patients, mostly zoledronic acid (83%). Clinical trial participation was discussed in 34% of cases, and 22 people (11% of the total) enrolled in a study. In 15% of the cases the oncologist found management to be “somewhat” or “very” challenging and would have liked input on the case. Conclusions: This web-based instrument allowed rapid and efficient collection of relevant information and provided a snapshot of newly diagnosed MM in community-based practice. Clinical findings revealed several potential “knowledge gaps,” represented by heterogeneity in the selection of initial systemic therapy and the lack of adequate staging and prognostic information, including cytogenetics. The psychosocial data obtained may be useful in planning MM support programs, and could be compared to similar information gathered directly from patients. Furthermore, in almost one in six cases, oncologists would have liked to have assistance in making management decisions. These initial findings document the need for related clinical support and education programs that use this information as a benchmark for improvement. Disclosures: Lonial: Amgen, Inc: Consultancy; Bristol-Myers Squibb Co: Consultancy; Celgene Corp: Consultancy; Millennium Pharmaceuticals Inc: Consultancy; Novartis Pharmaceuticals Corp: Consultancy; Ortho Biotech Products LP: Consultancy.
28
Adam, Helen. „When Authenticity Goes Missing: How Monocultural Children’s Literature Is Silencing the Voices and Contributing to Invisibility of Children from Minority Backgrounds“. Education Sciences 11, Nr. 1 (15.01.2021): 32. http://dx.doi.org/10.3390/educsci11010032.
Der volle Inhalt der QuelleAnnotation:
The importance of recognising, valuing and respecting a child’s family, culture, language and values is central to socially just education and is increasingly articulated in educational policy worldwide. Inclusive children’s literature can support children’s human rights and contribute to equitable and socially just outcomes for all children. However, evidence suggests many educational settings provide monocultural book collections which are counterproductive to principles of diversity and social justice. Further, that educators’ understandings and beliefs about diversity can contribute to inequitable provision and use of diverse books and to inequitable outcomes of book sharing for many children. This paper reports on a larger study investigating factors and relationships influencing the use of children’s literature to support principles of cultural diversity in the kindergarten rooms of long day care centres. The study was conducted within an ontological perspective of constructivism and an epistemological perspective of interpretivism informed by sociocultural theory. A mixed methods approach was adopted, and convergent design was employed interpret significant relationships and their meanings. Twenty-four educators and 110 children from four long day care centres in Western Australia participated. Data were collected through semi-structured interviews, video-based observations, field notes, document analysis and a book audit. This study firstly identified that current book collections in kindergarten rooms of long day care centres promote mono-cultural viewpoints and ‘othering’ of minority groups through limited access to books portraying inclusive and authentic cultural diversity. Secondly, that educators had limited understandings of the role of literature in acknowledging and valuing diversity and rarely used it to promote principles of diversity, resulting in a practice of “othering” those from minority group backgrounds. The key challenges which emerged from the study concerned beliefs, understanding and confidence of educators about diversity and inclusion, and the impact of these on their approaches to promoting principles of diversity through the use of children’s books. This research contributes to discussion on the value of children’s literature in achieving international principles of diversity. These findings have important social justice implications. The outcomes of this study have implications for educators, policy makers, early childhood organisations and those providing higher education and training for early childhood educators.
29
Boele, F. W., F. Jansen, D. Meads, I. M. Verdonck-de Leeuw, J. J. Heimans, J. C. Reijneveld, S. C. Short und M. Klein. „OS7.5 Healthcare utilization, medication use, and productivity loss in glioma patients with depressive symptoms and their family caregivers“. Neuro-Oncology 21, Supplement_3 (August 2019): iii15. http://dx.doi.org/10.1093/neuonc/noz126.048.
Der volle Inhalt der QuelleAnnotation:
Abstract BACKGROUND Gliomas are associated with great societal burden through both direct (health and social care) and indirect (e.g., productivity loss) costs, but socioeconomic reports are scarce. We describe costs in a sample of glioma patients at high risk for depression and their family caregivers, and explore relationships between costs and treatable symptoms (depression; fatigue; cognitive complaints). MATERIAL AND METHODS Data from a nationwide randomised trial comparing internet-based therapy for depressive symptoms with waitlist controls were used. Healthcare utilization, medication use, and productivity loss based on the Trimbos/iMTA questionnaire for Costs associated with Psychiatric Illness (TIC-P) were described and costs in the past 4 weeks were calculated. Caregivers reported on their own costs and wellbeing We used generalized linear regression models to predict costs using multiple observations per participant and robust standard errors. We included depressive symptoms (CES-D), fatigue (CIS), cognitive complaints (MOS), tumour grade (low-/high-grade), and disease status (stable/progression/active treatment). RESULTS Data from 91 glioma patients and 46 caregivers were used with multiple assessments from baseline through 12 months follow-up. Baseline data showed that over a 4 week period, 64.8% of patients (M=€394.99, sd=856.83) and 41.3% of caregivers (M=€131.11, sd=392.89) had used healthcare services. Medication was used by 90.1% of patients (M=€100.83, sd=191.07) and 43.5% of caregivers (M=€13.19, sd=21.03). Productivity loss resulted in M=€1231.19, sd=2185.35 for patients and M=€310.92, sd=841.36 for caregivers. In total, mean direct and indirect costs were €1632.22 (sd=2314.25) for patients and €447.85 (sd=1002.94) for caregivers. In patients, more depressive symptoms and cognitive complaints were associated with increased healthcare use costs; higher tumour grade and active disease were linked with higher medication costs (all p<.05). Active treatment was related to higher overall costs (p<.05). In caregivers, increased caregiver fatigue was associated with higher productivity loss and overall costs; more caregiver cognitive complaints were associated with higher total costs; higher tumour grade was associated with higher healthcare use and total costs; and patient active treatment was linked with higher healthcare use costs (all p<.05). CONCLUSION Direct and indirect costs are substantial in glioma patients and caregivers. This indicates that the true cost of brain tumours is a burden shared between patients, caregivers, the healthcare system, and society more widely. Tentative links between costs and symptoms of depression, fatigue, and cognitive complaints indicate that adequate support may lead to cost reductions. Multivariable regression models are currently being prepared.
30
Babinets, L. S., N. Ye Botsyuk und I. M. Halabitska. „PREVENTION OF THE ADVERSE BEHAVIORAL FACTORS DEVELOPMENT AMONG CHILDREN AND ADOLESCENTS IN THE PRACTICE OF GENERAL PRACTITIONERS AND PEDIATRICIANS“. Здобутки клінічної і експериментальної медицини, Nr. 4 (19.12.2023): 182–88. http://dx.doi.org/10.11603/1811-2471.2023.v.i4.14315.
Der volle Inhalt der QuelleAnnotation:
SUMMARY. In today's difficult time for our people, when thousands of Ukrainian children are experiencing the horrors of war, it is the duty of society to protect not only the physical but also the mental health of our children and teenagers. Adolescents need special attention, which differs from attention to smaller children and adults because they are going through a critical transitional period of life, which is accompanied by a rapid growth rate, physical and psychological changes.
The aim – to analyze the problems of preventive work among adolescents, the possibilities of its solution, and the effectiveness of implementing the method of projects through medical and social activities among adolescents into the educational process at the Department of Therapy and Family Medicine of the Faculty of Medicine.
Material and Methods. The target group of children aged 10 to 18 was determined to work on the project "Medical and preventive work among teenagers". All students in the group were divided into small groups of three students each.
Results. During the implementation of the project, the students conducted educational activities aimed at popularizing medical and social knowledge in the field of adolescent health care among students of senior classes of secondary schools and colleges. These were reports and discussions for teenagers about sexual health and venereal diseases, sexually transmitted infections and HIV infection, insults and violence in the educational environment, social networks and virtual communication, loneliness, and domestic violence, the harm of smoking, alcohol, drug use and factors affecting this condition; development of proposals, recommendations for overcoming the problem.
Conclusion. 1. A comprehensive approach to preventive measures among adolescents is an important component of maintaining the health of adolescents.
Problems of medical and social factors affecting the health of a teenager include not only the work of a family doctor or state regulation, but also interaction with the non-governmental sector and the development of youth volunteerism.
Participating in preventive measures among teenagers of sixth-year students through the implementation of the project method helps them master basic knowledge, and ensures the formation of professional competencies, communicative and social skills, abilities, and creative abilities.
31
Yamashita, Robert, Amy Sobota, Felicia Trachtenberg, Yan Xu, Isaac Odame, Alexis A. Thompson, Patricia Giardina et al. „Changes In Health Status and Quality of Life In Parental Reports of Children with Thalassemia: Year 1 Report of the Thalassemia Longitudinal Cohort Study“. Blood 116, Nr. 21 (19.11.2010): 257. http://dx.doi.org/10.1182/blood.v116.21.257.257.
Der volle Inhalt der QuelleAnnotation:
Abstract Abstract 257 Background. Advances in treatment of thalassemia have led to increased life expectancy for patients making outcomes such as health related quality of life (HRQOL) an important consideration of therapy. Little has been published about the HRQOL of pediatric patients with thalassemia. There are limited reports on how this illness impacts the family. Because the familial situation is the starting point for how patients learn to live with their condition, it is important to document this effect and how it changes over time. This report looks at changes in parental reported HRQOL from baseline (BL) to year 1 (Y1) in the Thalassemia Clinical Research Networks (TCRN) Thalassemia Longitudinal Cohort (TLC) study. Patients and Methods. The TCRN is a NIH-sponsored network of 16 major thalassemia centers in the US, Canada and London. We report here on the results from 77 patients under the age of 14 who completed BL and assessments at Y1. Overall the patients were 47% male with a mean age of 9 years (range 5–13). 94% were chronically transfused, and 69% had β-thalassemia, and 12% were E-β thalassemia patients. 57% used an oral chelator, while 29% were on desferoxamine (DFO). HRQOL was measured by self-report with the Children Health Questionnaire (CHQ), 28-item Parental Form (PF28). The 28 items derive 12 subscales that assess physical and psychosocial health. 2 summary scales assess overall physical health and psychosocial health. We defined a clinically significant change as a difference of at least 2 points on any subscale. Results. Clinical Changes: 45% saw a reduced number of transfusions from BL to year 1 (32% showed no change). 73% did not change chelator, while 18% changed from DFO to oral (2.6% other way). 5% began a chelation regimen. Only one percent of patients developed new secondary complications. 63% showed no change in their general adherence rate; 25% showed a decrease. HRQOL changes: As a population, mean HRQOL remained stable over the 1 year study period. Age appears to be significant for CHQ assessment of child's self esteem and behavior (and overall psychosocial assessment), but gender, country and ethnicity do not appear to be significant. The average number of scales with significant changes was eight. Only one CHQ assessment does not show any significant changes on any CHQ scale, while three reports showed changes on all 14 scales. The psychosocial scales showed more significant changes than physical health assessments. Figure 1 illustrates the reported changes by scale. Measures of overall general health, parental emotions and child behavior showed the most changes. Assessment of the child's physical and psychosocial roles and family cohesion showed the least change. The physical health assessments of function and pain showed lower significant changes than the psychosocial health assessments. More psychological health measures show a significant drop than familial assessments. When we examine scale changes by age groups, the youngest age group (5-7) showed modestly better physical and psychosocial scale changes. The 8–10 age group saw more than twice the number of parents seeing a decline in a physical or psychosocial health scale. The oldest age group (11-14) showed the fewest changes, with mainly higher physical health scale changes, but lower scores on the psychosocial scales. Clinical Associations: Changes in number of transfusions and adherence do not appear to impact CHQ assessment. However, changes in chelator appear to be significant for parental time (P=0.048) and the psychosocial summary scale (p=0.04). Changes in secondary complication appear to be associated with changes in the CHQ assessment of the child's behavior (p=.04). Conclusions. The dearth of clinical changes suggests that patients enrolled in TCRN are receiving optimized health care. The lack of changes on the CHQ's physical health scales is to be expected given the low number of clinical changes, and the reported changes in CHQ do not appear to be related to clinical changes. At this stage of data analysis, CHQ assessment in thalassemia appears to be associated with the normal effects a growing child has on the family. This would be the desired result of effective clinical intervention in thalassemia. Further analyses of changes are needed to understand the relationship between changes in HRQOL and specific changes in clinical measures. Disclosures: Neufeld: Novartis, Inc: Research Funding; Ferrokin, Inc: Research Funding.
32
Montgomery, Robert Bruce, Julie Ann Lynch, Jessica Brown, Kara Noelle Maxwell, Nismeta Kabilovic, Katie Stoll, Julie Simon et al. „Remote delivery of cancer genetic testing in veterans with metastatic prostate cancer: A Million Veteran Program study.“ Journal of Clinical Oncology 42, Nr. 16_suppl (01.06.2024): 1541. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.1541.
Der volle Inhalt der QuelleAnnotation:
1541 Background: Germline pathogenic alterations are found in approximately 10% of men with metastatic prostate cancer (mPC) and can inform precision therapy, surveillance, and cancer prevention for family. National guidelines recommend germline genetic testing be offered to all men with mPC, yet uptake of testing in the community has been documented to be 10-12% with many barriers to testing. We conducted a study to determine uptake of testing using remote consenting and testing for veterans with mPC who had participated in the Department of Veteran’s Affairs (VA) Million Veteran Program (MVP). We wanted to know if remote testing could augment point-of-care counseling and ordering to increase uptake of germline testing. Methods: This prospective study enrolled veterans who participated in MVP study with a diagnosis of mPC. Veterans were contacted by mail with an option to opt-out of future contact. Those who did not opt-out were mailed information about the study and received a follow-up call to establish interest in germline testing with a CLIA-level germline test. Those expressing interest provided verbal informed consent and were mailed a saliva collection kit for a multigene cancer predisposition gene panel test. Results were disclosed by phone and mailed to the patient with genetic counseling support and were sent to the oncology provider by email, phone or both. Two research coordinators and two part-time genetic counselors provided consenting, counseling and return of results. A study evaluating facilitated communication of results to first degree relatives (FDR) and germline testing of FDR was a component of study. Results: As of 2/6/2024, 1952 veterans who were alive with an incident diagnosis of mPC were identified through MVP and did not opt out. Informational letters were sent to the home address of all eligible participants. 683 (35%) of veterans completed informed consent and 457 (23% of total original cohort) completed testing. Among the participants, 70% were White, 21% were Black, 0.5% Asian and 8% unknown, 13% had a germline pathogenic variant. Documentation of positive germline results from study in the chart reports was 58%. Of 30 results relevant for targeted therapy, 16 have received that therapy, 11 were not yet appropriate and 3 patients did not receive targeted therapy. Twenty-nine FDR were contacted and tested through the pilot study of facilitated contact and testing. Conclusions: We evaluated uptake of germline testing using a remote, VA system-wide approach to identify and offer genetic testing for veterans with mPC with access and cost issues removed. We completed germline testing at rates higher than those reported in the community with modest personnel requirements, in a diverse population of patients. Documentation of results in the electronic medical record can be improved. Remote genetic testing can augment uptake of testing in large integrated health care systems.
33
Mahale, Parag, Jorge Romaguera, Francesco Turturro, Nathan Fowler und Harrys A. Torres. „Development of Non-Hodgkin’s Lymphoma As Second Primary Cancer in Hepatitis C Virus-Infected Patients with a Different Primary Malignancy – a Case Series“. Blood 124, Nr. 21 (06.12.2014): 5414. http://dx.doi.org/10.1182/blood.v124.21.5414.5414.
Der volle Inhalt der QuelleAnnotation:
Abstract Background: Hepatitis C virus (HCV) is carcinogenic and infected patients are at increased risk of developing hepatocellular carcinoma (HCC) and non-Hodgkin’s lymphoma (NHL). HCC can develop as a as a second primary cancer (SPC) in HCV-infected cancer patients with a nonliver first primary cancer. However, reports on HCV-infected patients who develop NHL as SPC are lacking. Methods: Records of patients with chronic HCV infection who were seen at MD Anderson Cancer Center, Houston, TX, between 01/2008 - 5/2014 were reviewed. Patients who developed NHL in the setting of a different primary malignancy were described in this case series. HCV therapy did not include newly approved antivirals. Results: Eighty four patients with HCV-associated NHL were seen during the study period. Among, them, six (7%) developed NHL as SPC; most were men (n=4; 67%), Caucasians (n=5; 83%), and had genotype 1 infection (two patients had genotype known; both had genotype 1b infection). All patients had solid first primary cancers, mostly prostate cancer (n=3; 50%), followed by choriocarcinoma (n=1; 17%), chondrosarcoma (n=1; 17%), and squamous cell carcinoma of larynx (n=1; 17%). Most patients (n=5; 83%) had their first primary cancers in complete remission, and only 1 had cirrhosis at lymphoma diagnosis. Surgery (n=3; 50%) and chemotherapy (n=2; 34%) were the main treatment modalities for first primary malignancies, with leuprolide acetate and carboplatin as the only chemotherapeutic agents administered. The types of NHL developed as SPC were diffuse large B cell lymphoma (n=3; 50%), marginal zone B cell lymphoma (n=2; 33%), and mantle cell lymphoma (n=1; 17%). None of the patients had a family history of lymphoma. NHL was not suspected and was found incidentally in all patients at a median of 34 months (range, 2 – 410 months) after the diagnosis of the first primary malignancy. Hepatitis B core antibodies were detected in 4 (67%) patients. A majority of patients had persistent HCV viremia (n=4; 67%) when NHL was diagnosed. Two of the 3 patients who were treated for HCV infection had attained sustained virological response (regarded as virological cure). Conclusions: NHL may develop as SPC in HCV-infected patients with a different primary malignancy, especially in patients who have primary solid tumors or unresolved infection. Therefore, surveillance not only for the development of HCC but also NHL as SPCs should be continued in HCV-infected patients with different primary malignancy. Eradication of this carcinogenic virus with better tolerated and more efficacious antivirals may potentially reduce the risk of NHL development as SPC. Disclosures Torres: Gilead Sciences: Consultancy; Merck & Co., Inc. : Consultancy, Research Funding; Vertex Pharmaceuticals: Consultancy, Research Funding; Genentech,: Consultancy.
34
Norby, Nicole, Amanda B. Murchison, Shian McLeish, Taylor Ghahremani, Megan Whitham und Everett F. Magann. „Uterine Prolapse in Pregnancy: A Review“. Obstetrical & Gynecological Survey 78, Nr. 9 (September 2023): 537–43. http://dx.doi.org/10.1097/ogx.0000000000001192.
Der volle Inhalt der QuelleAnnotation:
Importance Although not a common occurrence, uterine prolapse during pregnancy can have significant effects for pregnancy outcomes and quality of life of maternal patients. Most data about management exist as case reports; a review of these cases provides some guidance about treatment options. Objectives This review examines current literature about uterine prolapse during pregnancy to assess current information about this condition, prevalence, diagnosis, management, and outcomes. Evidence Acquisition Electronic databases (PubMed and Embase) were searched using terms “uterine prolapse” AND “pregnancy” AND “etiology” OR “risk factors” OR “diagnosis” OR “therapy” OR “management” limited to the English language and between the years 1980 and October 31, 2022. Results Upon review of 475 articles, 48 relevant articles were included as well as 6 relevant articles found on additional literature review for a total of 54 articles. Of those articles, 62 individual cases of uterine prolapse in pregnancy were reviewed including pregnancy complications, mode of delivery, and outcomes. Prevalence was noted to be rare, but much more common in second and subsequent pregnancies. Most diagnoses were made based on symptomatic prolapse on examination. Management strategies included bed rest, pessary use, and surgery (typically during the early second trimester). Complications included preterm delivery, patient discomfort, urinary retention, and urinary tract infection. Delivery methods included both cesarean and vaginal deliveries. Conclusions Although a rare condition, uterine prolapse in pregnancy is readily diagnosed on examination. Reasonable conservative management strategies include observation, attempted reduction of prolapse, and pessary use; if these measures fail, surgical treatment is an option. Relevance Our review compiles literature and known cases of uterine prolapse during pregnancy and current evidence about prevalence, diagnosis, management, outcomes, and complications of uterine prolapse during pregnancy in order to inform our target audience in their clinical practice. Target Audience Obstetricians and gynecologist, family physicians. Learning Objectives After completing this learning activity, the participant should be able to describe the prevalence of uterine prolapse during pregnancy, potential at-risk populations, and presenting symptoms; identify management strategies for uterine prolapse during pregnancy including both surgical and conservative approaches; and assess possible complications of uterine prolapse during pregnancy.
35
Bihari, A., und K. Kroeker. „P449 Beyond a patient's control: assessing non-modifiable factors of transition readiness in IBD patients who have transferred to adult care“. Journal of Crohn's and Colitis 18, Supplement_1 (01.01.2024): i913—i914. http://dx.doi.org/10.1093/ecco-jcc/jjad212.0579.
Der volle Inhalt der QuelleAnnotation:
Abstract Background The transition from paediatric to adult care is an important time for a patient diagnosed with inflammatory bowel disease (IBD) in childhood/adolescence. A systematic review by Johnson et al., identified non-modifiable and modifiable factors that impact transition readiness. This review summarized positive associations with non-modifiable factors, such as females had higher self-management scores than males, patients with Crohn’s disease or a family IBD history associated with higher self-efficacy scores. Older age at diagnosis was associated with lower self-management scores in one study. Lack of or conflicting associations were found with respect to medication type and age at diagnosis. We aim to assess the prevalence of these non-modifiable factors in our patient population at time of transfer to adult care. Methods We conducted a medical chart review of patients with IBD who had their first adult care appointment between 2015 and 2022 at an academic IBD clinic in Alberta, Canada. We recorded information on non-modifiable factors, including gender, diagnosis, age at diagnosis, family history of IBD, and IBD medication type at time of first adult appointment. We used descriptive statistics to summarize the non-modifiable factors in our patient population. Results We reviewed the medical charts of 198 patients. The median age of IBD diagnosis was 14.4 years old (IQR: 13.0-15.9) with 2.5% of patients were diagnosed between 0-4; 6.1% between 5-9; 51.0% between 10-14; 40.4% between 15-17. At time of first appointment in adult care, 29.5% were on biologic monotherapy; 28.3% were on biologic combination therapy; 33.3% were on either 5-ASA or an immunosuppressant; the remaining 9.1% were either not on any IBD medications or medications were not documented. 43% of patients were female gender; while 60.0% of patients had Crohn’s disease; 6.6% had IBD-U, and 33.3% had ulcerative colitis. Further, 13.6% of patients had a first degree relative with IBD. Conclusion This study reports the prevalence of non-modifiable factors associated with transition readiness. By identifying these factors, we can direct more resources towards supporting specific populations in achieving transition readiness. For example, our study found that only 13.6% had a first degree relative with IBD – a factor positively associated with self-efficacy. This represents a large population without a relative with IBD that could benefit from resources designed to improve self-efficacy. Overall, this study supports future research aimed at designing interventions to improve readiness tailored to patients who may benefit the most.
36
Akhtar, N. H., D. Akhtar, L. Tam, M. Nimmo und F. Donnellan. „A59 A RARE PRESENTATION OF COLLAGENOUS GASTRODUODENITIS WITH 10 YEAR FOLLOW UP“. Journal of the Canadian Association of Gastroenterology 5, Supplement_1 (21.02.2022): 68–69. http://dx.doi.org/10.1093/jcag/gwab049.058.
Der volle Inhalt der QuelleAnnotation:
Abstract Background Collagenous gastritis(CG) is a rare form of gastritis defined histologically by the presence of >10um of subepithelial surface collagen deposition. CG can further be categorized in childhood onset CG and adult onset CG. The prevalence of childhood CG is 2.1/100,000 in children aged younger than 18. Adult onset CG remains a rare entity. Here, we describe a rare presentation of collagenous gastroduodenitis in an adult patient and the interval progression over a 10 year period. Aims To increase awareness of a rare condition with limited data on available treatment modalities and clinical outcomes in adults. Methods Case Report Results A 35 year old female with no past medical history presented with worsening fatigue and increased shortness of breath with no overt gastrointestinal bleeding symptoms. There was no previous history of radiation exposure or family history of autoimmune disease. Laboratory investigations revealed iron deficiency anemia with a hemoglobin of 69 and a ferritin of 11. TTG serology and anti-parietal antibody was also negative. Esophagogastroduodenoscopy biopsies confirmed the diagnosis of collagenous gastritis localized to the gastric body with the presence of acute and chronic inflammatory changes. The patient was started on proton pump inhibitor therapy. In the interval period, the patient denies any new onset of gastrointestinal symptoms other than occasional heartburn. She remains iron deficient and requires regular iron infusions. Follow up endoscopy 10 years later now demonstrates diffuse mucosal abnormalities with a nodular contour involving the entire stomach and extending into the duodenal bulb. Biopsies showed features compatible with collagenous gastroduodenitis with active inflammation and pyloric metaplasia(Figure 1). There was atrophy of the stomach mucosa with no parietal cells identified and no endocrine hyperplasia. Immunostaining for Helicobacter pylori was negative. Flexible sigmoidoscopy was also performed revealing endoscopically normal colonic mucosa to the descending colon. Conclusions CG is a rare disease entity with unclear pathogenesis. Multiple case reports describe some association with autoimmune disease such as celiac disease. To date, no standard treatment has been identified for the management of CG. CG presents endoscopically with nodular changes, mucosal atrophy and collagen deposition. Over time, adult onset CG can progress to involve the entire stomach. Clinically, adult onset CG usually presents with a diarrhea predominant phenotype with associated collagenous colitis. Treatment modalities that have been trialed include PPI, corticosteroids, sucralfate, azathioprine,5-aminosalicylates, iron supplementation and hypoallergenic diets. Here we describe a rare presentation of collagenous gastroduodenitis and subsequent 10 year follow up in order to better understand this disease entity. Funding Agencies None
37
Molga, Angela, Michelle Wall, Rakchha Chhetri, Amilia Wee, Deepak Singhal, Pratyush Giri, Timothy To und Devendra K. Hiwase. „An Observational Study of the Prescribing Practices and Patient Reported Outcomes Measures in Older People with Myelodysplastic Syndrome“. Blood 134, Supplement_1 (13.11.2019): 5426. http://dx.doi.org/10.1182/blood-2019-132164.
Der volle Inhalt der QuelleAnnotation:
Objectives: Older people (≥65 years) living with myelodysplastic syndrome (MDS) have a poor prognosis, often compounded by comorbidities and polypharmacy. Polypharmacy is usually defined as the regular use of ≥5 medications and is common among older adults; however the appropriateness of therapy in older patients with malignancies requires a consideration of quality of life as well as prognosis rather than a discrete number. Such a patient-centred approach would identify potentially inappropriate medications (PIM) and also potentially omitted medications (POM). There is little data on the impact of PP, PIM and POM on patient reported outcome measures at baseline in older people with MDS. This study assesses the prevalence of PP, PIM and POM in older patients with MDS. Methods: Patients ≥65 years with MDS were enrolled from Jan 2014 to Nov 2018 at the Royal Adelaide Hospital. Patients were included in the study if they were seen by the Geriatrician for a Comprehensive Geriatric Assessment (CGA; Table 1), had geriatric screening assessments performed for frailty, completed patient-reported outcome measures using the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ-C30) at enrolment, specifically the domains of physical condition of medical treatment interfering on family (q26), social (q27) and financial aspects (q28), overall health (q29) and overall quality of life (q30). Results: The average age of patients at the time of enrolment was 75 years (62-89 years). Other patient characteristics are in Table 1. Forty-one (64%) patients were on supportive care and 21 (33%) were treated with azacitidine. The prevalence of PP, PIM and POM was 39% (25/64), 47% (30/64), and 64% (41/64) respectively. These were evaluated by a Geriatrician/Clinical Pharmacologist using the STOPP/START criteria after reviewing the CGA reports for each patient. The most common PIM was aspirin without an evidence-based clinical indication. The number of PIM ranged from 1 to 7 for an individual patient. The most common POM were vaccinations - only 1/64 (2%) patient had a documented influenza and pneumococcal vaccination status as per national guidelines, followed by laxatives for concurrent opioid use. Twenty-three percent (15/64) reported an overall poorer quality of life (defined as q30<4), of which 80% (12/15) were on supportive care and 20% (3/15) were on azacitidine. Nineteen percent (12/64) reported poor overall health (q29 <4), 20% (13/64) reported that their physical condition or medical treatment interfered with their family life, 31% (18/64) felt the impact on their social activities, and 13% (8/64) reported financial difficulties as a result of their condition or treatment. The majority were on supportive treatment - 10/13 (77%), 11/18 (61%), 6/8 (75%) respectively. The presence of PIMs (44 vs. 86 months; p=0.18) and POM (57 vs. 45 months; p=0.9) were associated with shortened survival however this was not statistically significant. Additionally PIMs, POMS, and polypharmacy were not associated with adverse perceptions on family, social or financial aspects of daily life. Similarly, there was no difference in cognitive frailty (defined as having an abnormal score for MMSE or other cognitive assessments or a confirmed diagnosis of dementia on treatment), physical frailty (defined as having an abnormal score on any one or more of the physical domains: iADL, ADL, TUG, falls) or multimorbidity (defined as having an abnormal score for CCI or MDS-CI). Conclusions: A significant proportion of older patients with MDS are multimorbid and report adverse impacts related to their condition on their family, social and financial aspects of their lives. Older patients are just as likely to have beneficial medications omitted as having potentially inappropriate medications requiring intervention. This study highlights the importance of deprescribing and reviewing goals of therapy with consideration for patient reported outcomes. Disclosures No relevant conflicts of interest to declare.
38
Mir, Olivier, Sylvain Briand, Thierry Lazure, Julien Adam, Rastilav Bahleda, Jean-Yves Blay, Andrea Cavalcanti et al. „Activity of erlotinib in patients (pts) with advanced chordoma: A retrospective study.“ Journal of Clinical Oncology 39, Nr. 15_suppl (20.05.2021): 11528. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.11528.
Der volle Inhalt der QuelleAnnotation:
11528 Background: Chordoma is a rare tumor with no approved therapy. Preclinical studies have shown expression of EGFR and activated EGFR family kinases (EGFR, HER2 and HER4). Erlotinib and other anti-EGFR agents (gefitinib and cetuximab) have shown clinical activity in advanced chordoma in single case reports or small series. We aimed to evaluate the activity of erlotinib in a larger, homogeneous series of pts with advanced chordoma. Methods: We retrospectively reviewed the electronic medical records of consecutive adult pts with advanced chordoma progressive over 6 months (+/- 2 weeks, according to RECIST 1.1), treated with erlotinib (150 mg daily) at Gustave Roussy (Villejuif, France) following multidisciplinary tumor board discussion, from January 2010 to January 2021. All cases were confirmed by an expert pathologist. Response was evaluated according to RECIST 1.1, and survival was estimated using the Kaplan-Meier method. Results: Thirty-one pts [median age : 60 years (range : 32-88), median PS : 2 (range : 1-3), 30 males)] were identified. Twenty-seven (87%) had locally advanced disease; the median number of metastatic sites was 1 (range : 1-2) in the remaining 4 pts. Primary tumor site was sacral (25), lumbar (3) or cervical (3). All pts but 6 had undergone prior surgery, and 29 (94%) had undergone radiotherapy of the primary tumor. Eight pts had received previous systemic treatments (imatinib in 4, sorafenib and regorafenib in 2 each). Best tumor response by RECIST 1.1 was PR (4 pts, 13%), SD (14 pts, 45%) or PD (13 pts, 42%). Median PFS was 6.2 months (95%CI : 4.5-9.8), and median OS was 15.9 months (95%CI : 10.6-20.2). Fourteen pts (45%) remained progression-free after 1 year, and three (10%) after two years under erlotinib. Grade 3 diarrhea occurred in 4 pts (13%) and grade 3 skin rash in 13 pts (42%). Twelve pts (39%) required dose reduction to 100 mg daily due to multiple grade 2 toxicities. Ongoing studies are exploring whether candidate biomarkers such as EGFR and HER2 expression or amplification, and their mutational status could help predicting the benefit of erlotinib in pts with advanced chordoma. Conclusions: Erlotinib has clinically meaningful but unpredictable activity in advanced chordoma. Molecular profiling would probably be of high interest in this setting. This series may serve as a benchmark for future clinical trials in chordoma.
39
Juma, Matthews, Solveig Ericson, Dawn Fun Eng, Sandip Acharya, Darshan Wariabharaj, Tina Owugah, Bettine Avenia und Oleg Zernovak. „Prospective, observational registry of branded imatinib (IM) and nilotinib (NIL) exposure in pregnant women: Voluntary post-authorization safety study.“ Journal of Clinical Oncology 30, Nr. 15_suppl (20.05.2012): TPS6638. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.tps6638.
Der volle Inhalt der QuelleAnnotation:
TPS6638 Background: Family planning decisions for cancer patients of childbearing age are impacted by their diagnosis. IM and NIL are category D drugs (demonstrated risk to the fetus based on mechanism of action and findings in animals; however, the benefits of therapy may outweigh the potential risk to the fetus); women should be advised not to become pregnant when taking these drugs. Limited data exist concerning safety of these drugs during pregnancy and consequences of interrupting treatment. The registry does not recommend patients receiving IM or NIL become pregnant, but serves only to document exposures that occur, and collect information on pregnancy outcome, maternal course of disease, and infant follow-up. Methods: The registry intends to enroll 150 women (≥18 years) treated with branded IM and NIL within 6 mo before or during pregnancy (generic IM and NIL reports are excluded). Schedule of visits and treatment is according to local standard of care. Women are divided into 2 exposure cohorts: 1) pregnancy/fetal: received tyrosine kinase inhibitors (TKIs) within 14 d of conception or at any time during pregnancy; 2) interrupted TKI: received TKIs within 6 mo before conception but interrupted TKIs in preparation for/due to pregnancy. To identify signals of teratogenicity, the registry uses a general population baseline rate of birth defects, and the prevalence of defects in cohorts 1 and 2 may be compared. Cases are quantitatively analyzed for the emergence of unique defects or patterns of defects. Primary objective: monitor TKI-exposed pregnancies to estimate the prevalence of birth defects (calculated by dividing number of birth defects by total number of exposed live births from cohort 1). Secondary objectives are to: 1) determine the impact of treatment interruption on maternal disease status; 2) assess and estimate the prevalence of serious adverse pregnancy outcomes; and 3) assess and estimate the prevalence of developmental delays and functional deficits among infants during the first year of life. Maternal disease status is analyzed, comparing disease status at registration, pregnancy outcome, and 1 y after birth, stratified by length of TKI interruption.
40
Pipe, Steven, Michael Becka, Elke Detering, Konstantina Vanevski und Toshko Lissitchkov. „First-in-human Gene Therapy Study of AAVhu37 Capsid Vector Technology in Severe Hemophilia A“. Blood 134, Supplement_1 (13.11.2019): 4630. http://dx.doi.org/10.1182/blood-2019-125764.
Der volle Inhalt der QuelleAnnotation:
Background: Gene therapy for hemophilia A has the potential to reduce the treatment burden for care-providers and patients, by eliminating the need for regular factor VIII (FVIII) prophylaxis through the long-term expression of endogenous FVIII at levels sufficient to provide bleed protection. BAY 2599023 (AAVhu37FVIII) is a non-replicating adeno-associated virus (AAV) vector, based on the AAV serotype hu37, which contains a single-stranded DNA genome encoding a B-domain deleted FVIII, under the control of a liver-specific promotor/enhancer combination optimized for transgenic expression. The AAVhu37 capsid is a member of the hepatotropic Clade E family and has been selected based on nonclinical studies demonstrating efficient liver-directed FVIII gene transfer, favorable biodistribution as well as durable FVIII expression. BAY 2599023 is the first clinical-stage AAV gene therapy vector based on the AAVhu37 serotype. This analysis reports safety and FVIII activity following a single intravenous infusion of BAY 2599023 in the first-dose cohort of a phase I/II open-label, first time in human dose-finding study (NCT03588299) of previously treated, severe hemophilia A patients. Patients/Methods: Two participants were enrolled sequentially; each received a single infusion of AAVhu37 (0.5 x 1013 GC/kg). Patients were males ≥18 years with no history of FVIII inhibitor development, no detectable immunity to the AAVhu37 capsid, and >150 exposure days to FVIII products. Primary endpoints were adverse events (AEs), serious AEs and AEs/SAEs of special interest (S/AESI); the secondary endpoint was change in FVIII activity from baseline. Informed patient consent, and ethics committee approval at each local site, were obtained. Results: Following more than 15 weeks of safety observation, no SAEs, AEs related to study drug, nor S/AESI were reported. Liver enzymes (alanine aminotransferase and aspartate aminotransferase) remained <1.5 of baseline. Corticosteroids were not used in either patient. Clear evidence of FVIII expression was observed in both patients with stable values of ~5% and ~17% in the first and second patient, respectively. An early read-out also indicated hemostatic efficacy in both; the first patient had successfully halted prophylaxis for 6 weeks, while the second one, treated on-demand with 99 bleeds recorded in the 12 months prior to gene transfer, has been bleed free for over 5.5 months to date. Conclusions: BAY 2599023 was previously shown in non-clinical studies to have a good safety profile, with the potential to achieve endogenous expression of FVIII at therapeutic levels, over an extended period of time. In this first-in-human clinical study with BAY 2599023, two patients have been treated with BAY 2599023 at the starting dose of 0.5 x 1013 GC/kg and no safety concerns have been reported to date. Measurable expression of endogenous FVIII and an early read-out of hemostatic efficacy have been demonstrated in both patients. Overall, data generated from this first dose cohort demonstrate that successful translation from pre-clinical to clinical development and proof-of-mechanism for BAY 2599023 was achieved. Disclosures Pipe: HEMA Biologics: Consultancy; Shire: Consultancy; Roche/Genentech: Consultancy; Sanofi: Consultancy; Freeline: Consultancy; Apcintex: Consultancy; Novo Nordisk: Consultancy; Catalyst Bioscience: Consultancy; CSL Behring: Consultancy; Bayer: Consultancy; uniQure: Consultancy; BioMarin: Consultancy; Pfizer: Consultancy; Spark Therapeutics: Consultancy. Becka:Bayer: Employment. Detering:Bayer: Employment. Vanevski:Bayer: Employment. Lissitchkov:Octapharma: Equity Ownership, Research Funding; Bayer: Consultancy, Equity Ownership, Honoraria, Other: Principal investigator for clinical trials, Research Funding; Sobi: Consultancy, Equity Ownership, Honoraria; Sanofi: Equity Ownership, Research Funding; Roche: Consultancy, Equity Ownership, Honoraria, Speakers Bureau; Shire: Consultancy, Equity Ownership, Honoraria, Speakers Bureau. OffLabel Disclosure: Gene therapy for haemophilia treatment.
41
Coelho, Helen, Anna Price, Fraizer Kiff, Laura Trigg, Sophie Robinson, Jo Thompson Coon und Rob Anderson. „Experiences of children and young people from ethnic minorities in accessing mental health care and support: rapid scoping review“. Health and Social Care Delivery Research 10, Nr. 22 (Juli 2022): 1–74. http://dx.doi.org/10.3310/xkwe8437.
Der volle Inhalt der QuelleAnnotation:
Background Mental health problems are common among children and young people in the UK. Some young people from ethnic minority backgrounds experience mental health problems in different ways from those from non-ethnic minority backgrounds. Furthermore, those from ethnic minority backgrounds often experience greater difficulties in accessing mental health support and variable levels of engagement with services, and may prefer different support to their white British peers. Objective To describe the nature and scope of qualitative research about the experiences of children and young people from ethnic minority backgrounds in seeking or obtaining care or support for mental health problems. Data sources We searched seven bibliographic databases (Applied Social Sciences Index and Abstracts, Cumulative Index to Nursing and Allied Health Literature, MEDLINE, PsycInfo®, Health Management Information Consortium, Social Policy and Practice, and Web of Science) using relevant terms on 23 June 2021. Methods The scoping review included qualitative research about young people’s experiences of seeking or engaging with services or support for mental health problems. Included studies were published from 2012 onwards, were from the UK, were about those aged 10–24 years and were focused on those from ethnic minority backgrounds (i.e. not white British). Study selection, data extraction and quality assessment (with ‘Wallace’ criteria) were conducted by two reviewers. We provide a descriptive summary of the aims, scope, sample, methods and quality of the included studies, and a selected presentation of authors’ findings (i.e. no formal synthesis). Results From 5335 unique search records, we included 26 papers or reports describing 22 diverse qualitative studies. Most of the studies were well conducted and clearly described. There were studies of refugees/asylum seekers (n = 5), university students (n = 4) and studies among young people experiencing particular mental health problems (n = 14) (some studies appear in multiple categories): schizophrenia or psychosis (n = 3), eating disorders (n = 3), post-traumatic stress disorder (n = 3, in asylum seekers), substance misuse (n = 2), self-harm (n = 2) and obsessive–compulsive disorder (n = 1). There were also three studies of ethnic minority young people who were receiving particular treatments (cognitive–behavioural therapy, multisystemic therapy for families and a culturally adapted family-based talking therapy). Most studies had been conducted with young people or their parents from a range of different ethnic backgrounds. However, nine studies were conducted with particular ethnic groups: asylum seekers from Afghanistan (n = 2), and black and South Asian (n = 2), black African and black Caribbean (n = 2), South Asian (n = 1), Pakistani or Bangladeshi (n = 1) and Orthodox Jewish (n = 1) people. The studies suggested a range of factors that influence care-seeking and access to mental health care, in terms of the beliefs and knowledge of young people and their parents, the design and promotion of services, and the characteristics of care professionals. Poor access was attributed to a lack of understanding of mental health problems, lack of information about services, lack of trust in care professionals, social stigma and cultural expectations about mental resilience. Limitations As this was a rapid scoping review, there was only a basic synthesis of the research findings. Future work Future research about young people from ethnic minorities could cover a wider range of ethnic minorities, sample and analyse experiences from particular ethnic minorities separately, cover those accessing different services for different needs, and adopt multiple perspectives (e.g. service user, carer, clinician, service management). Study registration This study is registered as https://osf.io/wa7bf/. Funding This project was funded by the National Institute for Health and Care Research (NIHR) Health and Social Care Delivery programme and will be published in full in Health and Social Care Delivery; Vol. 10, No. 22. See the NIHR Journals Library website for further project information.
42
Nurjannah, Intansari. „Sujok triorigin therapy for vaginitis: case reports“. International Journal of Research in Medical Sciences 12, Nr. 1 (28.12.2023): 249–52. http://dx.doi.org/10.18203/2320-6012.ijrms20234011.
Der volle Inhalt der QuelleAnnotation:
Vaginitis cases are the most frequently encountered cases of gynaecologists in women who seek treatment at health facilities. Various therapies are sought by sufferers to overcome this condition. This case report discusses the use of Sujok triorigin therapy with the mudra method to treat the symptoms of vaginitis. Mudra method is the therapy only by using the thumb placed on certain knuckles based on the tri-origin concept and the respondents meditate for 15-20 minutes. There was no charge applied for the therapy were given to the patient. Two female patients on their 40s contacted researcher through social media to get help for their vaginitis problems. Researcher sent the instruction through picture how to apply the therapy on patients’ fingers. In the first case, this extreme vaginal itching condition had been experienced for 1 year with various treatment methods tried but none were successful. In this respondent, it took 9 days for the itching to completely disappear with therapy being done 4 times a day for about 15 minutes. The second respondent complained of extreme itching in the vagina, with a severity scale of 5 (from 1-5) and bleeding because of scratching. After 4 minutes of doing mudra, the itching went down to scale 3 and after 20 minutes the itching went down to a score of 1-2 and then was completely gone after that. In conclusion, Sujok triorigin therapy can reduce vaginitis symptoms in two respondents in a relatively short time of therapy.
43
Tai Young Park und 김선희. „Family Therapy for Bipolar Disorder: A Case Study Examination of Family Interaction Methods“. Family and Family Therapy 21, Nr. 2 (August 2013): 147–76. http://dx.doi.org/10.21479/kaft.2013.21.2.147.
Der volle Inhalt der Quelle
44
Cryan, Elizabeth M. J., und Kathleen Ganter. „Childhood hallucinations in the context of parental psychopathology: two case reports“. Irish Journal of Psychological Medicine 9, Nr. 2 (November 1992): 120–22. http://dx.doi.org/10.1017/s0790966700013616.
Der volle Inhalt der QuelleAnnotation:
AbstractThree children who experienced hallucinations in two single-parent families are described. The children's symptoms subsided when the families were treated using a family therapy approach. This report highlights the need for mental health professionals to be aware of the possible response of children to parental psychopathology.
45
Luhowy, Meghan, Katrina Binion, Tiffany Warfield, Rebecca Bosley, Elizabeth Krauss und Ashraf Z. Badros. „Quantitative Cross-Sectional Analyses of Quality-of-Life Outcomes Related to Race, Sex, Age, and Clinical Stage Among Multiple Myeloma Patients at an Urban Center“. Blood 138, Supplement 1 (05.11.2021): 5014. http://dx.doi.org/10.1182/blood-2021-149827.
Der volle Inhalt der QuelleAnnotation:
Abstract Introduction. Multiple myeloma (MM) patients suffer from disease symptoms and impact on quality of life (QoL) - a patient's sense of enjoyment, well-being, and ability to carry out activities of daily living. Reports on QoL in MM have focused on clinical trials that usually involve younger patients with adequate performance status (PS), mostly Caucasians. The median age of MM onset is 69 years; advanced age is associated with multiple comorbidities and deteriorating PS. Blacks have twice the incidence of MM compared to Caucasians; they also have a higher risk of dying due to poor healthcare utilization. Here, we explored the multifactorial nature of race, sex, age, and clinical stage in patient reported QoL outcomes using quantitative cross-sectional analyses from a single center in urban setting. Methods . Participants with a diagnosis of plasma cell disorders at various stages: MGUS, smoldering myeloma (SMM), or MM (newly diagnosed, maintenance, relapsed/refractory) were sequentially enrolled for a one-time measurement of QOL outcomes. Consent and study questionnaire were conducted verbally. Participants simply responded 'yes' or 'no' to nine question prompts outlined in Table 1, followed by verbal reasoning which was transcribed by the interviewer. The questionnaire included three main domains of QoL assessment based on existing literature review and feedback with our patient population. The first is physical symptoms and function (disease-related symptoms, treatment-related adverse events, sexual health and satisfaction with care), the second is mental health (depression, spirituality), and the third is social impact (financial burden, family support). Data were analyzed using chi-square test of independence. Participants will be re-approached for a second interview to determine changes to impact across the same QoL variables over time. The questionnaires validated within the current study will be used for a longitudinal cohort study to investigate whether a greater degradation is observed in one or more QoL domains during a specific time-point of MM disease course. Results. A total of 100 patients (males n=52) were enrolled. Median age was 64 years (IQR 55 - 68); 59 were Caucasian, 34 were Black, and 7 from other racial groups. At the time of interview: 7 were newly diagnosed or receiving induction therapy, 25 were undergoing stem cell transplant (SCT), 22 were on maintenance therapy, 33 were relapsed on salvage therapy, and 13 on no therapy (MGUS/SMM). Regardless of race, age, or sex, patients on therapy felt their QOL was impacted by fatigue (67%), and myeloma symptoms (65%). Black participants reported more fatigue as an impact on their QoL compared to other racial groups, p = .009. Women reported more impact from MM on sexual intimacy, p = .04, and impact from financial burden than male participants, p = .03. Younger patients <60 years old (n=38) reported more impact from treatment-related adverse events, p = .004, disease-related symptoms, p = .02, and dissatisfaction with information received about their disease and/or treatment, p = .004, compared to patients aged >60 years. Not surprisingly, patients with active MM (n=87); newly diagnosed on therapy, those undergoing SCT, or on maintenance, and relapsed disease) reported more MM symptoms p = <.001, and suffered from more fatigue, p = <.02, with higher impact on QoL compared to those with early-stage plasma cell disorders (MGUS, SMM). However, early-stage patients felt more dissatisfaction with information received and uncertainty about what to expect, p = <.001, compared to MM patients receiving therapy. Interestingly, there were no age, sex, race, or clinical stage dependent effects observed from SCT experience, spirituality or religion, and dissatisfaction with cancer care. Conclusions. Patients <60 years were impacted more by disease-related symptoms, treatment-related adverse events, in comparison to patients >60 years. Women felt their QoL was impacted by MM's affect on sexual intimacy and resulting financial burden in comparison to men. Black participants felt greater impact from fatigue in comparison to Caucasian and other races. Active MM patients on treatment were more impacted by disease-related symptoms and fatigue compared to early-stage patients. MGUS/SMM patients not on therapy were more impacted by dissatisfaction of information received compared to patients receiving treatment at time of data collection. Figure 1 Figure 1. Disclosures Badros: Janssen: Research Funding; J&J: Research Funding; BMS: Research Funding; GlaxoSmithKline: Research Funding.
46
Meagher, Nicola S., Kami K. White, Lynne R. Wilkens, Penelope M. Webb, Anna H. Wu, Lauren C. Peres und Melissa A. Merritt. „Abstract B113: Associations between risk factors and epithelial ovarian cancer survival by racial and ethnic group: an analysis from the ovarian cancer association consortium“. Cancer Research 84, Nr. 5_Supplement_2 (04.03.2024): B113. http://dx.doi.org/10.1158/1538-7445.ovarian23-b113.
Der volle Inhalt der QuelleAnnotation:
Abstract Background: Associations between lifestyle, hormonal and reproductive factors and survival for epithelial ovarian cancer (EOC) have been studied, however, reports lack stratification by racial and ethnic group. Through the Ovarian Cancer Association Consortium (OCAC), we analyzed associations between survival and EOC risk factors by racial and ethnic group across Asian, Hispanic, Native Hawaiian/Pacific Islander (NHPI) and Non-Hispanic White women with EOC to help inform associations with prognosis. Methods: Participants came from 15 eligible case-control studies from Australia, Canada, England, and the USA with hormonal factors (oral contraceptive use, postmenopausal hormone use, body mass index [BMI]), reproductive factors (age at menarche, parity, breastfeeding, tubal ligation, hysterectomy, endometriosis), smoking and family history. The 12,818 invasive EOC cases were reported as Asian and NHPI (n=908, including 98 NHPI); Hispanic (n=490); and White (n=11,420). Cox proportional hazards regression models estimated hazard ratios (HR) and 95% confidence intervals (95% CI) for risk of all-cause mortality with race and ethnicity as an exposure, and risk factors stratified by race and ethnicity. Models were stratified by study, 10-year age group and stage at diagnosis, and adjusted for age at diagnosis (continuous) and histology. The models with race and ethnicity as the exposure were additionally adjusted for BMI, smoking and postmenopausal hormone use. We assessed heterogeneity in the risk factor associations between racial and ethnic groups using the Wald test with an interaction term for race and ethnicity for each exposure. Results: The mean follow-up after a diagnosis of EOC was 6.1 years (standard deviation = 4.8), with 7512 deaths during the follow-up period (59% of EOC). Compared to White patients, NHPI women with EOC had an increased risk of mortality (HR=1.49, 95% CI=1.08-2.07). There was no statistically significant heterogeneity in associations between risk factors and EOC mortality across racial and ethnic groups. However, we observed differences by racial and ethnic groups for postmenopausal hormone therapy use with a pronounced inverse association for the combined Asian and NHPI group (HR=0.65, 95% CI 0.49-0.88), less so for White and Hispanic women (HR=0.90, 95% CI 0.84-0.95 and HR=0.81, 95% CI 0.57-1.14, respectively). High recent BMI (≥30 kg/m2 compared with <25) was associated with increased risk of mortality in Hispanic and White women only (HR=1.43, 95% CI 1.00-2.03 and HR=1.14, 95% CI 1.06-1.22, respectively). Current smoking was associated with higher mortality risk among White women (HR=1.15, 95% CI 1.07-1.25) but not in the other groups. Conclusions: We observed that compared with White women, NHPI women with EOC had a higher risk of mortality. The known association between postmenopausal hormone therapy use and reduced risk of mortality was particularly pronounced for the combined Asian and NHPI group. More work is needed to understand the disparity in mortality outcome for NHPI women with EOC. Citation Format: Nicola S. Meagher, Kami K. White, Lynne R. Wilkens, Penelope M. Webb, Anna H. Wu, Lauren C. Peres, Melissa A. Merritt. Associations between risk factors and epithelial ovarian cancer survival by racial and ethnic group: an analysis from the ovarian cancer association consortium [abstract]. In: Proceedings of the AACR Special Conference on Ovarian Cancer; 2023 Oct 5-7; Boston, Massachusetts. Philadelphia (PA): AACR; Cancer Res 2024;84(5 Suppl_2):Abstract nr B113.
47
Eder, P. M., B. Verstock, E. Culver, G. Dragoni, L. I. Kredel, A. G. G. de Paredes, M. Kaniewska et al. „P260 Autoimmune pancreatitis in patients with Inflammatory Bowel Disease: results from a multicentre ECCO CONFER cases series“. Journal of Crohn's and Colitis 16, Supplement_1 (01.01.2022): i301—i302. http://dx.doi.org/10.1093/ecco-jcc/jjab232.387.
Der volle Inhalt der QuelleAnnotation:
Abstract Background Autoimmune pancreatitis (AIP) is an uncommon inflammatory disorder that may accompany inflammatory bowel disease (IBD). The clinical relevance of AIP-IBD coexistence, therapeutic strategies, and long-term outcomes are scarcely known. Methods In this ECCO COllaborative Network For Exceptionally Rare case reports project (ECCO-CONFER) we included cases of AIP diagnosed in patients with IBD. Data on the diagnostic criteria, clinical characteristics, and patient outcomes were retrospectively collected and analysed. Results The cohort included 82 patients [54% males, 77% with ulcerative colitis (UC), age at IBD and AIP diagnosis 32±16 and 35±16 years, respectively]. Of all AIP patients, 71% were classified as type 2, 21% as type 1, and 8% as undefined type. Detailed characteristics of the study group are shown in Table 1. In 57% of the individuals, IBD was diagnosed before AIP. In the remaining cases, IBD was diagnosed simultaneously (20%) or afterwards (23%). Half of the patients required immunomodulators and 43% biological therapy to control their IBD. Twenty-two percent of UC and 6% of Crohn’s disease (CD) required surgical intervention during a mean follow-up of 3.6±3.4 years. Histological confirmation was used in 38% of cases, while the remaining were diagnosed as probable AIP based on clinical, biochemical, and radiologic criteria. Magnetic resonance was the most frequently used imaging modality (61%). Eighty percent of patients received steroids for AIP. Thiopurines were used for AIP in 16 (19%) patients, 81% of them responded to treatment. One patient was successfully treated for AIP with infliximab. AIP complications occurred in 27%, including pancreatic exocrine insufficiency (19%) and diabetes (13%). Five patients underwent surgery due to suspected pancreatic cancer. Patients with complicated AIP were significantly older at AIP and IBD diagnosis, were more frequently males and presented with weight loss at AIP diagnosis, and had less frequently a family history of IBD (Table 1). Colonic IBD (i.e. UC, isolated colonic IBD-unclassified or colonic CD) was seen in a higher proportion of individuals with complicated vs benign AIP course (91% vs 33%, p<0.0001). At the end of follow-up, 75 (91%) and 73 (89%) patients were in remission of AIP and IBD, respectively. No IBD or AIP-related deaths were reported. Conclusion In this large international cohort of patients with concomitant AIP-IBD, most patients have type 2 AIP and colonic IBD. AIP course is relatively benign, and long-term outcomes are favourable. Older age, male gender, isolated colonic IBD location, and weight loss at AIP presentation were seen in higher proportions of patients with a complicated course of AIP.
48
Soares, Marcia Britto de Macedo, Ricardo Alberto Moreno und Doris Hupfeld Moreno. „Electroconvulsive therapy in treatment-resistant mania: case reports“. Revista do Hospital das Clínicas 57, Nr. 1 (Februar 2002): 31–38. http://dx.doi.org/10.1590/s0041-87812002000100006.
Der volle Inhalt der QuelleAnnotation:
Electroconvulsive therapy is known to be effective in the treatment of mood disorders, more specifically for depression and mania. Although a large body of evidence confirms the efficacy of electroconvulsive therapy in the treatment of mania, few prospective studies have been done to assess its effectiveness in treatment-resistant manic episodes. These case reports describe the initial results of a study that is being conducted to evaluate the efficacy of Electroconvulsive therapy among treatment-resistant bipolar patients. METHODS: Three manic patients (according to DSM-IV criteria) who were considered treatment-resistant underwent a series of 12 bilateral Electroconvulsive therapy sessions. Before the treatment and then weekly, they were evaluated with the following rating scales: Young Mania Rating Scale, Hamilton Rating Scale for Depression, Brief Psychiatric Rating Scale, and Clinical Global Impressions-Bipolar Version. RESULTS: The 3 patients showed a satisfactory response to Electroconvulsive therapy, although some differences in the course of response were observed. CONCLUSION: These case reports suggest that Electroconvulsive therapy needs further evaluation for the treatment of resistant bipolar patients.
49
Вайханская, Т. Г., Л. Н. Сивицкая, Ю. А. Персидских, Т. В. Курушко, Н. Г. Даниленко, О. Д. Левданский und О. Г. Давыденко. „Long QT Syndrome: Clinical and Genetic Diagnostic Complications“. Кардиология в Беларуси, Nr. 5 (05.01.2021): 747–66. http://dx.doi.org/10.34883/pi.2020.12.5.012.
Der volle Inhalt der QuelleAnnotation:
Синдром удлиненного интервала QT (СУИQT) ассоциирован с потенциально фатальными желудочковыми тахиаритмиями. В то время как современные методы лечения СУИQT являются достаточно эффективными, диагностика этой патологии сегодня по-прежнему представляет серьезную проблему в связи с тем, что отсутствует стандартизованный метод оценки интервала QT (для определения интервала QT сегодня используются разные методы); определенные сложности также связаны с вариабельностью фенотипических проявлений (наличие асимптомных и латентных форм) и трудностями интерпретации генетических результатов. В настоящее время международные эксперты рекомендуют измерение интервала QT вручную с помощью касательного (тангенс) или порогового метода. Современные технологии геномного секвенирования и связанные с ними новые научные открытия приводят к тому, что алгоритмы клинической оценки и критерии патогенности генетических вариантов являются сегодня предметом непрерывного процесса реанализа и реклассификации. Так, растущее количество (теперь их более 15) генов, мутации которых ассоциированы с множеством подтипов CУИQT, способно дезориентировать клинических специалистов и вызывать сомнения молекулярных генетиков в отношении патогенности многих зарегистрированных генетических вариантов. Многоцентровые исследования последних лет продемонстрировали важные генотип-фенотипические корреляции, которые в настоящее время востребованы в клинической практике для определения тактики лечения пациентов с наиболее распространенными тремя генотипами, составляющими 85–95% всех ген-позитивных СУИQT: KCNQ1 (СУИQT тип 1), KCNH2 (СУИQT тип 2) и SCN5A (СУИQT тип 3).В представленной статье проведен анализ рекомендуемых методов измерения интервала QT, обзор новой системы генетической классификации и риск-стратификации CУИQT. Для освещения важной концепции глубокого фенотипирования, включающего каскадный скрининг членов семьи с интерпретацией результатов генетического теста и сопоставлением их с фенотипической экспрессией (сегрегационый анализ), представлены клинические наблюдения семейных форм СУИQT с генотипами KCNQ1 (СУИQT тип 1) и SCN5A (СУИQT тип 3). Эта концепцияимеет важное значение для установления точного диагноза СУИQT во избежание возможных диагностических ошибок, что в конечном итоге определяет стратегию лечения и прогноз пациентов, оптимальный выбор неинвазивных или инвазивных методов терапии. Long QT Syndrome (LQTS) is associated with potentially fatal ventricular tachyarrhythmias. While modern LQTS management is quite effective, the diagnosis of this pathology today still poses a serious problem due to the fact that there is no standardized method for estimating the QT interval (different methods are used for assessment of QT interval), variability of phenotypic manifestations (asymptomatic and latent forms) and difficulties in interpreting genetic results. Currently, international experts recommend measuring the QT interval manually using the tangent or threshold method. Modern technologies of genomic sequencing and related new scientific discoveries lead to the fact that clinical evaluation algorithms and criteria of pathogenicity of genetic variants are the subject for a continuous process of reanalysis and reclassification. Thus, the growing number (now there are more than 15) of genes, the mutations of which are associated with many LQTS types can disorient clinical specialists and raise doubts among molecular geneticists regarding the pathogenicity of many registered genetic variants. Multicenter studies of recent years have shown important genotype-phenotypic correlations that are currently in demand in clinical practice for determining the treatment tactics for patients with the most common three genotypes that comprise about 85–95% of all gene-positive LQTS: KCNQ1 (LQT 1), KCNH2 (LQT 2) and SCN5A (LQT 3).In the presented article, the analysis of the recommended methods for measuring the QT interval, the overview of new system of LQTS genetic classification and LQTS risk stratification were carried out. To highlight the important concept of deep phenotyping, including cascading screening of family members with interpretation of the results of the genetic test (segregation analysis), the clinical case reports of family LQTS with the genotypes KCNQ1 (LQT 1) and SCN5A (LQT 3) were presented. This concept is of great importance for establishing an accurate LQTS diagnosis in order to avoid possible diagnostic errors, which ultimately determines the treatment strategy and prognosis of patients, the optimal choice of non-invasive or invasive methods of therapy.
50
Buscetta, Ashley, Rachele E. Willard, Hasmin C. Ramirez, Jacob Aickareth, Diba Seddighi, Tiffany A. Jackson und Vence L. Bonham. „Returning Secondary Genomic Findings to a Sickle Cell Disease Cohort“. Blood 142, Supplement 1 (28.11.2023): 2374. http://dx.doi.org/10.1182/blood-2023-181131.
Der volle Inhalt der QuelleAnnotation:
Introduction: As gene therapy for sickle cell disease (SCD) continues to advance, there is growing potential for genomic screening to be utilized in determining eligibility for this therapy. With this comes the ethical obligation to look for secondary findings (SF) in clinical exome and whole genome sequencing. The American College of Medical Genetics (ACMG) has issued recommendations for returning SF in clinical care and annually updates a list of pathogenic variants. This abstract reports on our experience with returning SF to a SCD study population in research. Methods: The INSIGHTS Study (NCT02156102) is a cross-sectional perspective research study examining phenotypic variation in adults living with SCD. All study participants consented to whole genome sequencing (WGS) and agreed to have secondary genomic findings returned. Participants completed the study between 2014-2020. To date, 264 samples have undergone WGS, performed at the National Institutes of Health Intramural Sequencing Center. Results: In accordance with the guidelines issued by ACMG, 12 participants (4.5%) were found to have genetic variants on the current list (ACMG SF v3.2) that were eligible for return (Table 1). Additionally, one participant was found to have a sex chromosome aneuploidy, and after a full ethics board review, it was determined this result should also be returned based on its clinical actionability and the risk/benefit analysis. Of these 12 participants, three were deceased. One participant was already aware of the secondary finding. We contacted the remaining eight participants and as of July 2023 five participants provided a new sample for CLIA confirmation. Results were returned in consultation with the Secondary Findings Consult Service at the National Human Genome Research Institute, which provided a genetic counselor. Participants met with a clinical member of the study team and the genetic counselor either by telephone or in person. The consultation consisted of sharing the result and associated risk of disease, obtaining pertinent medical history and detailed family history, and providing recommendations and referrals. Discussion: With the expansion of genomics into hematological and sickle cell disease research, it is paramount that the implications of its integration continue to be examined. The responsibility of the research team to facilitate and/or provide ancillary care to their study participants to best support them in receiving SF results should be clearly defined. In addition, each patient will have unique needs that should be considered and may require specialized assistance. Questions on how the SF affects the patient's primary diagnosis will need to be addressed, which will require a multidisciplinary approach to care. These consultations will require a high level of patient coordination and clinical support. It is important that these patient encounters 1) involve a known and trusted medical professional; 2) provide accurate and understandable information on the genomic finding, usually by a genetic counselor; and 3) refer the patient to an appropriate clinical provider who is an expert in that disease.