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Journal articles on the topic 'Diagnostic pathway'

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Author: Grafiati
Published: 10 December 2022
Last updated: 28 January 2023

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1

Pearson, C., J. Fraser, and J. Shelton. "Using English National Cancer Registration and Linked Health Datasets to Assess Variation in Diagnostic Pathway Length for Colorectal and Lung Cancer Patients by Stage and Route to Diagnosis." Journal of Global Oncology 4, Supplement 2 (October 1, 2018): 75s. http://dx.doi.org/10.1200/jgo.18.62700.

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Background: Understanding factors that contribute to longer diagnostic pathways is important to improve efficiency of these pathways and can provide evidence for the implementation of the forthcoming 28-day Faster Diagnostic Standard (FDS) in England. This analysis uses linked national cancer registrations and other health datasets to define diagnostic pathway length and examine variation by route to diagnosis (RtD), stage and patient characteristics for colorectal and lung cancer patients. Aim: To achieve a more in-depth understanding of the diagnostic pathway for colorectal and lung cancer patients and identify particular factors associated with longer diagnostic pathways. Methods: English cancer registrations (2014 & 2015) diagnosed with colorectal and lung cancers (C18-20, C33-34) were linked to the hospital episode statistics, diagnostic imaging dataset, cancer waiting times and RtD data. Patients with multiple diagnoses or unknown RtD were excluded. To construct the pathway length, a start date was derived by defining the earliest relevant event (referral into/appointment in secondary care or diagnostic procedure) from available datasets in the 6 months prediagnosis. The pathway length was determined for each cancer site separately, by stage, RtD and patient characteristic. Regression analysis produced odds ratios (OR) of having a longer diagnostic pathway while controlling for other factors, including age, sex, comorbidities and deprivation. The longer pathway was defined as longer than the median days per cancer site. Results: Of 64,320 colorectal and 71,526 lung patients included, 99.5% and 99.8% respectively had at least one relevant first event recorded. The median pathway length (days) was 26 (IQR 11-56) for colorectal and 35 for lung (15-83). Pathway length decreased significantly with later stage (stage 1-4 - colorectal: 35 to 20, lung: 75 to 25) with significant variation also by presentation route and comorbidity score. Regression analysis showed that, after adjustment for other factors (including stage), patients on a GP referral route had an increased odds of a long pathway compared with the two week wait route (an urgent GP referral with a suspicion of cancer) (colorectal aOR: 4.5, lung aOR: 2.5). Patients diagnosed via emergency presentation route, which are predominantly late stage, had the shortest pathway length and reduced ORs of having a longer diagnostic pathway (colorectal aOR: 0.2, lung aOR: 0.4). Certain patient characteristics are also associated with longer diagnostic pathway length. Conclusion: There is substantial variation in diagnostic pathway length by stage and route for both sites and in many cases these pathways exceeded 28-days (colorectal: 45.3%, lung: 56.4%). Vague symptoms, comorbidities and other patient characteristics may make cancer more difficult to diagnose. Factors associated with longer waits could support the creation of targeted initiatives to reduce the diagnostic pathway length.
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2

Rabbolini, David. "Diagnostic pathway for platelet disorders." Pathology 54 (March 2022): S21. http://dx.doi.org/10.1016/j.pathol.2021.12.073.

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3

Judson, Marc A., Bruce W. Thompson, David L. Rabin, Joanne Steimel, Genell L. Knattereud, Daniel T. Lackland, Cecile Rose, Cynthia S. Rand, Robert P. Baughman, and Alvin S. Teirstein. "The Diagnostic Pathway to Sarcoidosis*." Chest 123, no. 2 (February 2003): 406–12. http://dx.doi.org/10.1378/chest.123.2.406.

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4

Stopyra, Jason, Anna Catherine Snavely, Brian Hiestand, Brian J. Wells, Kristin Macfarlane Lenoir, David Herrington, Nella Hendley, Nicklaus P. Ashburn, Chadwick D. Miller, and Simon A. Mahler. "Comparison of accelerated diagnostic pathways for acute chest pain risk stratification." Heart 106, no. 13 (April 8, 2020): 977–84. http://dx.doi.org/10.1136/heartjnl-2019-316426.

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BackgroundThe History Electrocardiogram Age Risk factor Troponin (HEART) Pathway and Emergency Department Assessment of Chest pain Score (EDACS) are validated accelerated diagnostic pathways designed to risk stratify patients presenting to the emergency department with chest pain. Data from large multisite prospective studies comparing these accelerated diagnostic pathways are limited.MethodsThe HEART Pathway Implementation is a prospective three-site cohort study, which accrued adults with symptoms concerning for acute coronary syndrome. Physicians completed electronic health record HEART Pathway and EDACS risk assessments on participants. Major adverse cardiac events (death, myocardial infarction and coronary revascularisation) at 30 days were determined using electronic health record, insurance claims and death index data. Test characteristics for detection of major adverse cardiac events were calculated for both accelerated diagnostic pathways and McNemar’s tests were used for comparisons.Results5799 patients presenting to the emergency department were accrued, of which HEART Pathway and EDACS assessments were completed on 4399. Major adverse cardiac events at 30 days occurred in 449/4399 (10.2%). The HEART Pathway identified 38.4% (95% CI 37.0% to 39.9%) of patients as low-risk compared with 58.1% (95% CI 56.6% to 59.6%) identified as low-risk by EDACS (p<0.001). Major adverse cardiac events occurred in 0.4% (95% CI 0.2% to 0.9%) of patients classified as low-risk by the HEART Pathway compared with 1.0% (95% CI 0.7% to 1.5%) of patients identified as low-risk by EDACS (p<0.001). Thus, the HEART Pathway had a negative predictive value of 99.6% (95% CI 99.1% to 99.8%) for major adverse cardiac events compared with a negative predictive value of 99.0% (95% CI 98.5% to 99.3%) for EDACS.ConclusionsEDACS identifies a larger proportion of patients as low-risk than the HEART Pathway, but has a higher missed major adverse cardiac events rate at 30 days. Physicians will need to consider their risk tolerance when deciding whether to adopt the HEART Pathway or EDACS accelerated diagnostic pathway.Trial registration numberNCT02056964.
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Cafarotti, S., V. Porziella, S. Margaritora, and P. Granone. "Diagnostic pathway in anterior mediastinal mass." Interactive CardioVascular and Thoracic Surgery 12, no. 5 (May 1, 2011): 846. http://dx.doi.org/10.1510/icvts.2010.256750a.

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6

Barbetakis, N., and C. Asteriou. "Diagnostic pathway for anterior mediastinal masses." Interactive CardioVascular and Thoracic Surgery 12, no. 5 (May 1, 2011): 846–47. http://dx.doi.org/10.1510/icvts.2010.256750a1.

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7

Kasujja, Francis Xavier, Fred Nuwaha, Meena Daivadanam, Juliet Kiguli, Samuel Etajak, and Roy William Mayega. "Understanding the diagnostic delays and pathways for diabetes in eastern Uganda: A qualitative study." PLOS ONE 16, no. 4 (April 21, 2021): e0250421. http://dx.doi.org/10.1371/journal.pone.0250421.

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Background Type 2 diabetes is rapidly becoming a significant challenge in Uganda and other low and middle-income countries. A large proportion of the population remains undiagnosed. To understand diagnostic delay, we explored the diagnostic pathways for diabetes among patients receiving care at a semi-urban district hospital in eastern Uganda. Methods Eligible participants were patients aged 35–70 years receiving care at the diabetes clinic of Iganga district hospital between April and May 2019 and their healthcare providers. Patients were interviewed using an interview guide to collect information on patients’ symptoms and their diagnostic experience. A separate interview guide was used to understand the organisation of the diabetes services and the diabetes diagnostic process at the hospital. Using maximum variation purposive sampling, we selected 17 diabetes patients aged 35–68 years, diagnosed within the previous three years, and the three health workers managing the diabetes clinic at Iganga hospital. The data was analysed using ATLAS.ti version 8 to code, organise and track the data segments. We conducted template analysis using a priori themes derived from the intervals of Walter’s model of Pathways to Treatment to identify the factors influencing diagnostic delay. Results We identified four typologies: a short diagnostic pathway, protracted appraisal pathway, protracted appraisal and diagnostic interval pathway, and delayed treatment pathway. The pathways of patients with protracted appraisal or diagnostic intervals demonstrated strong socio-cultural influences. There was a firm reliance on traditional healers both before and after diagnosis which deferred enrolment into care. Other health system barriers implicated in delayed diagnosis included stock-out of diagnostic supplies, misdiagnosis, and missed diagnosis. Denial of diagnosis was also found to lead to delayed initiation of care. Conclusion Reducing diagnostic delay requires addressing both negative socio-cultural influences and the adoption of system-wide interventions to address barriers to timely diagnosis.
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Christensen, Helle Marie, and Lotte Huniche. "Patient perspectives and experience on the diagnostic pathway of lung cancer: A qualitative study." SAGE Open Medicine 8 (January 2020): 205031212091899. http://dx.doi.org/10.1177/2050312120918996.

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Objectives: Lung cancer is one of the most common types of cancer, with high mortality rate and a significant burden of symptoms. It is therefore important to assess patients’ perceived quality of life during the diagnostic process and treatment. Knowledge of and attention to patients’ perspectives, experiences, and expectations in relation to lung cancer diagnostic pathways is limited. The aim of the study is to contribute with patients’ and relatives’ experiences with and their assessment of the quality of a hospital-based lung cancer diagnostic pathway. Methods: A qualitative study was conducted, comprising participant observation with 20 patients and semi-structured interviews with further 19 patients referred to the Lung Cancer Package, which initiates a fast track diagnostic pathway in a hospital setting. Data were obtained over a period of 9 months and analysed in collaboration with an interdisciplinary team of health professionals. The purpose was to further develop existing management strategies of the fast track diagnostic pathway based on patient’s perspectives. Results: Patients associated the fast track diagnostic pathway with high levels of anxiety due to the immediate risk of a lung cancer diagnosis. Although patients experienced the fast track programme as very challenging, they still wanted to move through the diagnostic pathway as quickly as possible. The patients expressed a need for support from relatives and repeatedly required information in multiple formats from health professionals throughout the diagnostic pathway. Conclusions: The study provided insight into the need for developing the fast track diagnostic pathway with a focus on patient anxiety, network involvement, and information strategies. The results qualified clinical practice with an increased focus on managing patients’ anxiety, raised awareness to involve relatives in the diagnostic process, and relaying information in dialogue with patients and their relatives, including management strategies to support patients through diagnostic investigations in the fast track programme.
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Bragde, Hanna Gustafsson, Ulf Jansson, Mats Fredrikson, Ewa Grodzinsky, and Jan Söderman. "Characterisation of gene and pathway expression in stabilised blood from children with coeliac disease." BMJ Open Gastroenterology 7, no. 1 (December 2020): e000536. http://dx.doi.org/10.1136/bmjgast-2020-000536.

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IntroductionA coeliac disease (CD) diagnosis is likely in children with levels of tissue transglutaminase autoantibodies (anti-TG2) >10 times the upper reference value, whereas children with lower anti-TG2 levels need an intestinal biopsy to confirm or rule out CD. A blood sample is easier to obtain than an intestinal biopsy sample, and stabilised blood is suitable for routine diagnostics because transcript levels are preserved at sampling. Therefore, we investigated gene expression in stabilised whole blood to explore the possibility of gene expression-based diagnostics for the diagnosis and follow-up of CD.DesignWe performed RNA sequencing of stabilised whole blood from active CD cases (n=10), non-CD cases (n=10), and treated CD cases on a gluten-free diet (n=10) to identify diagnostic CD biomarkers and pathways involved in CD pathogenesis.ResultsNo single gene was differentially expressed between the sample groups. However, by using gene set enrichment analysis (GSEA), significantly differentially expressed pathways were identified in active CD, and these pathways involved the inflammatory response, negative regulation of viral replication, translation, as well as cell proliferation, differentiation, migration, and survival. The results indicate that there are differences in pathway regulation in CD, which could be used for diagnostic purposes. Comparison between GSEA results based on stabilised blood with GSEA results based on small intestinal biopsies revealed that type I interferon response, defence response to virus, and negative regulation of viral replication were identified as pathways common to both tissues.ConclusionsStabilised whole blood is not a suitable sample for clinical diagnostics of CD based on single genes. However, diagnostics based on a pathway-focused gene expression panel may be feasible, but requires further investigation.
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Smith, Matthew E., Yemisi Takwoingi, Jon Deeks, Cuneyt Alper, Manohar L. Bance, Mahmood F. Bhutta, Neil Donnelly, Dennis Poe, and James R. Tysome. "Eustachian tube dysfunction: A diagnostic accuracy study and proposed diagnostic pathway." PLOS ONE 13, no. 11 (November 8, 2018): e0206946. http://dx.doi.org/10.1371/journal.pone.0206946.

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11

Congdon, Morgan, Caitlin B. Clancy, Dorene F. Balmer, Hannah Anderson, Naveen Muthu, Christopher P. Bonafide, and Irit R. Rasooly. "Diagnostic Reasoning of Resident Physicians in the Age of Clinical Pathways." Journal of Graduate Medical Education 14, no. 4 (August 1, 2022): 466–74. http://dx.doi.org/10.4300/jgme-d-21-01032.1.

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ABSTRACT Background Development of skills in diagnostic reasoning is paramount to the transition from novice to expert clinicians. Efforts to standardize approaches to diagnosis and treatment using clinical pathways are increasingly common. The effects of implementing pathways into systems of care during diagnostic education and practice among pediatric residents are not well described. Objective To characterize pediatric residents' perceptions of the tradeoffs between clinical pathway use and diagnostic reasoning. Methods We conducted a qualitative study from May to December 2019. Senior pediatric residents from a high-volume general pediatric inpatient service at an academic hospital participated in semi-structured interviews. We utilized a basic interpretive qualitative approach informed by a dual process diagnostic reasoning framework. Results Nine residents recruited via email were interviewed. Residents reported using pathways when admitting patients and during teaching rounds. All residents described using pathways primarily as management tools for patients with a predetermined diagnosis, rather than as aids in formulating a diagnosis. As such, pathways primed residents to circumvent crucial steps of deliberate diagnostic reasoning. However, residents relied on bedside assessment to identify when patients are “not quite fitting the mold” of the current pathway diagnosis, facilitating recalibration of the diagnostic process. Conclusions This study identifies important educational implications at the intersection of residents' cognitive diagnostic processes and use of clinical pathways. We highlight potential challenges clinical pathways pose for skill development in diagnostic reasoning by pediatric residents. We suggest opportunities for educators to leverage clinical pathways as a framework for development of these skills.
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Shchava, S. N., E. A. Serdyukova, N. A. Redkina, E. I. Faybisovich, and R. A. Mansurov. "Clinical case of angiosarcoma: differential diagnostic pathway." Klinicheskaya dermatologiya i venerologiya 18, no. 6 (2019): 699. http://dx.doi.org/10.17116/klinderma201918061699.

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13

Sarzi-Puttini, Piercarlo, Valeria Giorgi, Fabiola Atzeni, Roberto Gorla, Eva Kosek, Ernest H. Choy, Laura Bazzichi, et al. "Diagnostic and therapeutic care pathway for fibromyalgia." Clinical and Experimental Rheumatology 39, no. 3 (June 21, 2021): 120–27. http://dx.doi.org/10.55563/clinexprheumatol/zcp5hz.

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14

Iwasaki, Yasuo, Ken Ikeda, and Masao Kinoshita. "The diagnostic pathway in amyotrophic lateral sclerosis." Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders 2, no. 3 (January 2001): 123–26. http://dx.doi.org/10.1080/146608201753275571.

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15

Rubin, Greg, Fiona Walter, Jon Emery, and Niek de Wit. "Reimagining the diagnostic pathway for gastrointestinal cancer." Nature Reviews Gastroenterology & Hepatology 15, no. 3 (February 7, 2018): 181–88. http://dx.doi.org/10.1038/nrgastro.2018.1.

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16

Harrison, Claire N., Nauman Butt, Peter Campbell, Eibhlean Conneally, Mark Drummond, Anthony R. Green, Richard Murrin, Deepti H. Radia, John T. Reilly, and Mary F. McMullin. "Diagnostic pathway for the investigation of thrombocytosis." British Journal of Haematology 161, no. 4 (March 11, 2013): 604–6. http://dx.doi.org/10.1111/bjh.12283.

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17

Wells, Christine E., and Sarah J. Smith. "Diagnostic Care Pathways in Dementia." Journal of Primary Care & Community Health 8, no. 2 (November 22, 2016): 103–11. http://dx.doi.org/10.1177/2150131916678715.

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Objectives: Increasing diagnostic rates of dementia is a national health priority; to meet this priority, improvement needs to be made to diagnostic services. It has been increasingly recognized that primary can play a significant role in the diagnostic journey for people with dementia, with some diagnostic services entirely located in primary care. This article reviews the extent of the involvement of primary care in diagnostic care pathways for people presenting with memory complaints within England, and presents examples of innovative approaches, which may be of interest to practitioners. Method: A rapid review was undertaken to identify articles outlining diagnostic care pathways for dementia involving primary care in England. Results: Six articles relating to pathway evaluations and innovative approaches involving primary care were deemed suitable for inclusion in the review. Conclusions: The review found examples of diagnostic pathways and innovative practices being implemented in in primary care. These practices aligned to the strategic ambitions of the National Dementia Strategy. However, it was widely acknowledged that there is a need to improve postdiagnostic pathways; in particular, access to postdiagnostic support. This issue is being reflected in contemporary policy initiatives such as the Department of Health’s 2016 Joint Declaration on postdiagnostic dementia care and support.
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Siswanto, Michael, and Djazuly Chalidyanto. "IMPACT OF CLINICAL PATHWAYS COMPLIANCE FOR REDUCING LENGTH OF STAY." Jurnal Administrasi Kesehatan Indonesia 8, no. 1 (May 18, 2020): 79. http://dx.doi.org/10.20473/jaki.v8i1.2020.79-90.

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Background: Clinical pathway is multidisciplinary care plan based on the best clinical practice for a group of patients with a particular diagnosis, designed to minimize care delay as well as maximize the quality of care and clinical outcomes. In 2017, average length of stay for pediatric patient with acute gastroenteritis was prolonged even clinical pathways had been implemented.Aim: Thid study determined the diagnostic examination and therapy compliance of clinical pathway related to the length of stay.Method: This study was cross sectional research through simple random sampling. Researchers analyzed pediatric patients whose clinical pathway were filled completely by doctors. The inclusion criteria were pediatric patients, admitted to hospitals during January to December 2018 as acute gastroenteritis patients. The data were analyzed using multiple classification analysis.Results: There were 197 patients with clinical pathway filled completely. As much as 60.91% of cases were compiled for diagnostic examination and 88.32% for therapy. There was no statistically significant correlation between diagnostic examination compliance (p > 0.05) and therapy compliance (p > 0.05) of clinical pathway with patients’ length of stay (combined = p > 0.05).Conclusion: Many factors could be related with the length of stay especially patients’ condition itself. In this study, clinical pathway compliance has no impact in reducing length of stay. Keywords: clinical pathway, compliance, length of stay, pediatric.
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Li, Jianhua, Fang Wang, Yunhua Cui, Li Song, Yongmei Yu, and Xia Chen. "Identification of Diagnostic Biomarkers of Rape Pollen Allergy Based on MRNA Sequencing." Evidence-Based Complementary and Alternative Medicine 2022 (September 28, 2022): 1–9. http://dx.doi.org/10.1155/2022/6153577.

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In this study, 383 differentially expressed genes (DEGs) between the allergic group and the nonallergic group were excavated. Humoral immune response, chemokine-related biological processes, granulocyte-related biological processes, IL-17 signaling pathway, and TNF signaling pathway were found connected with DEGs. The allergic group had significantly higher enrich scores of T cells, T helper cells, TFH, and Th17 cells than the nonallergic group. We acquired 26 rape pollen allergy-associated genes by taking the intersection of key module genes from WGCNA and the DEGs. The functional enrichment results show that rape pollen allergy-associated genes are relevant to processes and pathways like regulation of inflammatory response, transcriptional regulation, lymphocyte differentiation, IL-17 signaling pathway, and MAPK signaling pathway. Then, three characteristic genes were defined by crossing the genes derived from LASSO and SVM-RFE algorithms, including MYADM, PMAIP1, and MLF1. The AUC values of these genes manifested that the three genes had a mighty discrimination power in discriminating allergic samples from nonallergic samples. In conclusion, this study revealed three characteristic genes (MYADM, PMAIP1, and MLF1) in rape pollen allergy, suggesting that they may be potential biomarkers in rape pollen allergy diagnosis and treatment.
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Chen, Yingrong, Zhihong Ma, Lishan Min, Hongwei Li, Bin Wang, Jing Zhong, and Licheng Dai. "Biomarker Identification and Pathway Analysis by Serum Metabolomics of Lung Cancer." BioMed Research International 2015 (2015): 1–9. http://dx.doi.org/10.1155/2015/183624.

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Lung cancer is one of the most common causes of cancer death, for which no validated tumor biomarker is sufficiently accurate to be useful for diagnosis. Additionally, the metabolic alterations associated with the disease are unclear. In this study, we investigated the construction, interaction, and pathways of potential lung cancer biomarkers using metabolomics pathway analysis based on the Kyoto Encyclopedia of Genes and Genomes database and the Human Metabolome Database to identify the top altered pathways for analysis and visualization. We constructed a diagnostic model using potential serum biomarkers from patients with lung cancer. We assessed their specificity and sensitivity according to the area under the curve of the receiver operator characteristic (ROC) curves, which could be used to distinguish patients with lung cancer from normal subjects. The pathway analysis indicated that sphingolipid metabolism was the top altered pathway in lung cancer. ROC curve analysis indicated that glycerophospho-N-arachidonoyl ethanolamine (GpAEA) and sphingosine were potential sensitive and specific biomarkers for lung cancer diagnosis and prognosis. Compared with the traditional lung cancer diagnostic biomarkers carcinoembryonic antigen and cytokeratin 19 fragment, GpAEA and sphingosine were as good or more appropriate for detecting lung cancer. We report our identification of potential metabolic diagnostic and prognostic biomarkers of lung cancer and clarify the metabolic alterations in lung cancer.
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Lomas, Derek J., and Hashim U. Ahmed. "All change in the prostate cancer diagnostic pathway." Nature Reviews Clinical Oncology 17, no. 6 (February 28, 2020): 372–81. http://dx.doi.org/10.1038/s41571-020-0332-z.

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Gulati, Malvika, Christopher Wincup, Varo Kirthi, and Shahir Hamdulay. "56. Giant Cell Arteritis: Improving the Diagnostic Pathway." Rheumatology 53, suppl_1 (April 2014): i76. http://dx.doi.org/10.1093/rheumatology/keu098.011.

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23

Accomando, S., F. La Rocca, F. Serraino, D. Montaperto, A. Liotta, and G. Corsello. "New useful, not invasive, diagnostic pathway for IBD." Digestive and Liver Disease 39, no. 10 (October 2007): A80. http://dx.doi.org/10.1016/j.dld.2007.07.130.

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Tucker, A., D. Oyuku, T. Nalugwa, M. Nantale, O. Ferguson, K. Farr, T. F. Reza, et al. "Costs along the TB diagnostic pathway in Uganda." International Journal of Tuberculosis and Lung Disease 25, no. 1 (January 1, 2021): 61–63. http://dx.doi.org/10.5588/ijtld.20.0532.

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Reichmuth, David S., Harvey W. Blanch, and Jay D. Keasling. "Dibenzothiophene biodesulfurization pathway improvement using diagnostic GFP fusions." Biotechnology and Bioengineering 88, no. 1 (2004): 94–99. http://dx.doi.org/10.1002/bit.20220.

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Yang, Fei, Ju Zhang, Anup Abraham, Yan Xiao, Richard D. Hammer, and Matthew Stewart Prime. "Real-world patient pathway of care for diffuse large B-cell lymphoma (DLBCL)." Journal of Clinical Oncology 38, no. 29_suppl (October 10, 2020): 272. http://dx.doi.org/10.1200/jco.2020.38.29_suppl.272.

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272 Background: Use of immunophenotyping and molecular diagnostics is the most important first step in the care process for DLBCL patients according to recommendations by the NCCN and the WHO. Process mining is a novel approach of statistical and graphical analytics and may provide insights on real-world patient pathway of care and guidelines-recommended diagnostic testing for appropriate DLBCL classification in clinical settings. Methods: This retrospective study included patients diagnosed with DLBCL between 01/01/2011 and 12/31/2019, using the Flatiron Health electronic health record-derived de-identified database. The database includes information on the date of diagnostic testing and corresponding results abstracted from pathology reports or clinical visit notes. This study included information on diagnostic testing by immunohistochemistry (IHC) and molecular diagnostics through fluorescence in situ hybridization (FISH) or karyotype for markers with a confirmed known result that can be used to classify cell of origin according to Hans algorithm and to identify double-/triple-hit lymphoma and double expressor lymphoma. We explored the application of process mining analytics to produce patient pathway graphs for visual investigation on the real-world care process for DLBCL patients, from initial diagnosis through diagnostic testing and line of therapy, until death or end of the study follow-up. Results: A total of 5387 patients (female 45%, mean age at diagnosis 66.4±13.6 years) were included. During a median follow-up of 19.2 months (IQR: 6.1-43.8), 4400 (82%) patients had evidence for IHC testing, 3205 (59%) had evidence for molecular testing, and few had information for next-generation sequencing (n = 91). Among those with evidence of diagnostic testing, 3721 (85%) and 1613 (50%) had the first test performed on the day (specimen collection date) of DLBCL diagnosis by IHC and molecular testing, respectively. During the study follow-up, most patients (n = 5005, 93%) started treatment within a median of 24 days (IQR: 14-36) and few participated in clinical trials (n = 131). When we stratified analysis by year of DLBCL diagnosis, patients with evidence of diagnostic testing increased from 67% (249/372) in 2011 to 86% (506/591) in 2019 for IHC and 50% (184/372) in 2011 to 67% (396/591) in 2019 for molecular testing, respectively. Conclusions: In DLBCL, use of recommended diagnostic testing appeared to increase from 2011 to 2019. Clinical insights generated using process mining could be used by institutions for benchmarking and for care pathway optimization.
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Rawat, A., E. Chaplin, B. Perera, J. Mccarthy, and K. Courtenay. "Prisoners with Attention Deficit Hyperactivity Disorder: Co-morbidities & Service Pathways." European Psychiatry 65, S1 (June 2022): S348. http://dx.doi.org/10.1192/j.eurpsy.2022.884.

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Introduction Effective diagnostic and treatment pathways for ADHD are needed in prison settings due to the high prevalence of ADHD and comorbidities in the prison population. Objectives In this presentation, we will describe two studies conducted in seperate London prisons in England. In the first study, the aim was to identify prisoners with ADHD with a focus on describing comorbidity. In the second study, using QI (quality improvement) methodology, the aim was to measure the practicability and effectiveness of a specialist ADHD diagnostic and treatment pathway for prisoners. Methods Two studies were carried out in two separate prisons in London. Firstly, data were collected to understand the prevalence of ADHD and the comorbidities. The second study used quality improvement (QI) methodology to assess the impact of a diagnostic and treatment pathway for prisoners with ADHD. Results Of the prisoners, 22.5% met the diagnostic criteria for ADHD. Nearly half of them were screened positive for autistic traits, with a higher prevalence of mental disorders among prisoners with ADHD compared to those without. The QI project led to a significant increase in the number of prisoners identified as requiring ADHD assessment but a modest increase in the number of prisoners diagnosed or treated for ADHD. Conclusions Despite various challenges, an ADHD diagnostic and treatment pathway was set up in a prison using adapted QI methodology. Further research is needed to explore the feasibility of routine screening for ADHD in prison and examine at a national level the effectiveness of current ADHD prison pathways. Disclosure No significant relationships.
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Ellis, Peter G., Adam M. Brufsky, Sushil Beriwal, Kathleen G. Lokay, Hans O. Benson, Stephanie B. McCutcheon, and Melinda Krebs. "Pathways Clinical Decision Support for Appropriate Use of Key Biomarkers." Journal of Oncology Practice 12, no. 6 (June 2016): e681-e687. http://dx.doi.org/10.1200/jop.2015.010546.

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Purpose: Breast cancer diagnostics have the ability to predict disease recurrence and the benefit of chemotherapy. This study measures the use of a diagnostic assay, Oncotype DX, when embedded in a breast cancer decision support algorithm and, on the basis of the assay results, the use of chemotherapy in the adjuvant setting. Methods: UPMC CancerCenter retrospectively reviewed patients with estrogen receptor–positive, human epidermal growth factor receptor 2 (HER2)Neu–negative disease with zero to three positive nodes navigated in the Via Pathways decision support portal during a 12-month period. The breast algorithm prompted input of the assay recurrence score (RS) and then recommended hormonal therapy alone (HT) for low RS, or chemotherapy followed by HT for high RS. The patient’s RS was correlated with the treatment decision. Results: During this time period, 643 patients had ER-positive, HER2Neu-negative disease with zero to three positive nodes. Of those, 596 (92.7%) had diagnostic testing to determine chemotherapy plus HT versus HT alone, and 47 had chemotherapy followed by HT without an RS. For node-negative patients classified with low or high RS, pathway treatment adherence rates were 99.7% and 96.6%, respectively; node-positive patients had 95.7% and 87.5% adherence rates, respectively. Conclusion: This analysis demonstrates the use of a clinical pathway to measure the adoption of a diagnostic test, the Oncotype DX breast assay, and the use of the appropriate therapy on the basis of the RS. As more diagnostics are established to aid in the personalized treatment of diseases, pathways may be important in maintaining clinician awareness of the appropriate disease presentations where these tests should be used, measuring usage of these tests, and tracking the treatment decisions on the basis of test results.
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Zolotovskaia, Marianna A., Max A. Kovalenko, Victor S. Tkachev, Alexander M. Simonov, Maxim I. Sorokin, Ella Kim, Denis V. Kuzmin, Betul Karademir-Yilmaz, and Anton A. Buzdin. "Next-Generation Grade and Survival Expression Biomarkers of Human Gliomas Based on Algorithmically Reconstructed Molecular Pathways." International Journal of Molecular Sciences 23, no. 13 (June 30, 2022): 7330. http://dx.doi.org/10.3390/ijms23137330.

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In gliomas, expression of certain marker genes is strongly associated with survival and tumor type and often exceeds histological assessments. Using a human interactome model, we algorithmically reconstructed 7494 new-type molecular pathways that are centered each on an individual protein. Each single-gene expression and gene-centric pathway activation was tested as a survival and tumor grade biomarker in gliomas and their diagnostic subgroups (IDH mutant or wild type, IDH mutant with 1p/19q co-deletion, MGMT promoter methylated or unmethylated), including the three major molecular subtypes of glioblastoma (proneural, mesenchymal, classical). We used three datasets from The Cancer Genome Atlas and the Chinese Glioma Genome Atlas, which in total include 527 glioblastoma and 1097 low grade glioma profiles. We identified 2724 such gene and 2418 pathway survival biomarkers out of total 17,717 genes and 7494 pathways analyzed. We then assessed tumor grade and molecular subtype biomarkers and with the threshold of AUC > 0.7 identified 1322/982 gene biomarkers and 472/537 pathway biomarkers. This suggests roughly two times greater efficacy of the reconstructed pathway approach compared to gene biomarkers. Thus, we conclude that activation levels of algorithmically reconstructed gene-centric pathways are a potent class of new-generation diagnostic and prognostic biomarkers for gliomas.
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Xu, Haitao, and Fusheng Yao. "Microarray-Based Gene Expression Analysis Identifies Potential Diagnostic and Prognostic Biomarkers for Waldenström Macroglobulinemia." Acta Haematologica 140, no. 2 (2018): 87–96. http://dx.doi.org/10.1159/000491013.

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Waldenström macroglobulinemia (WM), also known as lymphoplasmacytic lymphoma, is rare but a clinicopathologically distinct B-cell malignancy. This study assessed differentially expressed genes (DEGs) to identify potential WM biomarkers and uncover the underlying the molecular mechanisms of WM progression using gene expression profiles from the Gene Expression Omnibus database. DEGs were identified using the LIMMA package and their potential functions were then analyzed by using the gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses and the protein-protein interaction (PPI) network analysis by using the Search Tool for the Retrieval of Interacting Genes/Proteins database. Data showed that among 1,756 DEGs, 926 were upregulated and 830 were downregulated by comparing WM BM CD19+ with normal PB CD19+ B cell samples, whereas 241 DEGs (95 upregulated and 146 downregulated) were identified by comparing WM BM CD138+ with normal BM CD138+ plasma cell samples. The DEGs were enriched in different GO terms and pathways, including the apoptotic process, cell cycle arrest, immune response, cell adhesion, mitogen-activated protein kinase signaling pathway, toll-like receptor signaling pathway, and the gonadotropin-releasing hormone signaling pathway. Hub nodes in the PPI network included CDK1, JUN, CREBBP, EP300, CAD, CDK2, and MAPK14. Bioinformatics analysis of the GSE9656 dataset identified 7 hub genes that might play an important role in WM development and progression. Some of the candidate genes and pathways may serve as promising therapeutic targets for WM.
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Zhang, Fan, Youping Deng, Mu Wang, Li Cui, and Renee Drabier. "Pathway-based Biomarkers for Breast Cancer in Proteomics." Cancer Informatics 13s5 (January 2014): CIN.S14069. http://dx.doi.org/10.4137/cin.s14069.

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Genes do not function alone but through complex biological pathways. Pathway-based biomarkers may be a reliable diagnostic tool for early detection of breast cancer due to the fact that breast cancer is not a single homogeneous disease. We applied Integrated Pathway Analysis Database (IPAD) and Gene Set Enrichment Analysis (GSEA) approaches to the study of pathway-based biomarker discovery problem in breast cancer proteomics. Our strategy for identifying and analyzing pathway-based biomarkers are threefold. Firstly, we performed pathway analysis with IPAD to build the gene set database. Secondly, we ran GSEA to identify 16 pathway-based biomarkers. Lastly, we built a Support Vector Machine model with three-way data split and fivefold cross-validation to validate the biomarkers. The approach-unraveling the intricate pathways, networks, and functional contexts in which genes or proteins function-is essential to the understanding molecular mechanisms of pathway-based biomarkers in breast cancer.
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Merriel, Samuel William David, Stephanie Archer, Alice S. Forster, David Eldred-Evans, John McGrath, Hashim Uddin Ahmed, Willie Hamilton, and Fiona M. Walter. "Experiences of ‘traditional’ and ‘one-stop’ MRI-based prostate cancer diagnostic pathways in England: a qualitative study with patients and GPs." BMJ Open 12, no. 7 (July 2022): e054045. http://dx.doi.org/10.1136/bmjopen-2021-054045.

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ObjectivesThis study aimed to understand and explore patient and general practitioner (GP) experiences of ‘traditional’ and ‘one-stop’ prostate cancer diagnostic pathways in England.DesignQualitative study using semi-structured interviews, analysed using inductive thematic analysisSettingPatients were recruited from National Health Service (NHS) Trusts in London and in Devon; GPs were recruited via National Institute for Health Research (NIHR) Clinical Research Networks. Interviews were conducted in person or via telephone.ParticipantsPatients who had undergone a MRI scan of the prostate as part of their diagnostic work-up for possible prostate cancer, and GPs who had referred at least one patient for possible prostate cancer in the preceding 12 months.Results22 patients (aged 47–80 years) and 10 GPs (6 female, aged 38–58 years) were interviewed. Patients described three key themes: cancer beliefs in relation to patient’s attitudes towards prostate cancer;communication with their GP and specialist having a significant impact on experience of the pathway and pathway experience being influenced by appointment and test burden. GP interview themes included: the challenges of dealing with imperfect information in the current pathway; managing uncertainty in identifying patients with possible prostate cancer and sharing this uncertainty with them, and other social, cultural and personal contextual influences.ConclusionsPatients and GPs reported a range of experiences and views of the current prostate cancer diagnostic pathways in England. Patients valued ‘one-stop’ pathways integrating prostate MRI and diagnostic consultations with specialists over the more traditional approach of several hospital appointments. GPs remain uncertain how best to identify patients needing referral for urgent prostate cancer testing due to the lack of accurate triage and risk assessment strategies.
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Sedláčková, Hana, Olga Dolejšová, Milan Hora, Jiří Ferda, Ondřej Hes, Ondřej Topolčan, Radka Fuchsová, and Radek Kučera. "Prostate Cancer Diagnostic Algorithm as a “Road Map” from the First Stratification of the Patient to the Final Treatment Decision." Life 11, no. 4 (April 7, 2021): 324. http://dx.doi.org/10.3390/life11040324.

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The diagnostics of prostate cancer are currently based on three pillars: prostate biomarker panel, imaging techniques, and histological verification. This paper presents a diagnostic algorithm that can serve as a “road map”: from initial patient stratification to the final decision regarding treatment. The algorithm is based on a review of the current literature combined with our own experience. Diagnostic algorithms are a feature of an advanced healthcare system in which all steps are consciously coordinated and optimized to ensure the proper individualization of the treatment process. The prostate cancer diagnostic algorithm was created using the prostate specific antigen and in particular the Prostate Health Index in the first line of patient stratification. It then continued on the diagnostic pathway via imaging techniques, biopsy, or active surveillance, and then on to the treatment decision itself. In conclusion, the prostate cancer diagnostic algorithm presented here is a functional tool for initial patient stratification, comprehensive staging, and aggressiveness assessment. Above all, emphasis is placed on the use of the Prostate Health Index (PHI) in the first stratification of the patients as a predictor of aggressiveness and clinical stage of prostrate cancer (PCa). The inclusion of PHI in the algorithm significantly increases the accuracy and speed of the diagnostic procedure and allows to choose the optimal pathway just from the beginning. The use of advanced diagnostic techniques allows us to move towards to a more advanced level of cancer care. This diagnostics algorithm has become a standard of care in our hospital. The algorithm is continuously validated and modified based on our results.
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Lin, Hua, Shiting Tang, Ling Liang, Liechun Chen, Chun Zou, and Donghua Zou. "Exploring Early Physical Examination Diagnostic Biomarkers for Alzheimer’s Disease Based on Least Absolute Shrinkage and Selection Operator." Computational and Mathematical Methods in Medicine 2022 (August 18, 2022): 1–10. http://dx.doi.org/10.1155/2022/3039248.

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Neurodegenerative diseases such as Alzheimer’s disease (AD) are an increasing public health challenge. There is an urgent need to shift the focus to accurate detection of clinical AD at the physical examination stage. The purpose of this study was to identify biomarkers for AD diagnosis. Differential expression analysis was performed on a dataset including prefrontal cortical samples and peripheral blood samples of AD to identify shared differentially expressed genes (DEGs) shared between the two datasets. In addition, a minimum absolute contraction and selection operator (LASSO) model based on shared-DEGs identified nine signature genes (MT1X, IGF1, DLEU7, TRIM36, PTPRC, WNK2, SPG20, C8orf59, and BRWD1) that accurately predict AD occurrence. Enrichment analysis showed that the signature gene was significantly associated with the AD-related p53 signaling pathway, T-cell receptor signaling pathway, HIF-1 signaling pathway, AMPK signaling pathway, and FoxO signaling pathway. Thus, our results identify not only biomarkers for diagnosing AD but also potentially specific pathways. The AD biomarkers proposed in this study could serve as indicators for prevention and diagnosis during physical examination.
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Sbrollini, Giulia, Daniele Mazzaferro, Asim Ettamimi, Rodolfo Montironi, Marco Cordari, Guevar Maselli, Giacomo Tucci, et al. "Diagnostic-therapeutic pathway for small lesions of the testis." Archivio Italiano di Urologia e Andrologia 86, no. 4 (December 30, 2014): 397. http://dx.doi.org/10.4081/aiua.2014.4.397.

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Objective of our study was to define a diagnostic-therapeutic pathway for proper treatment of not-palpable testicular masses, that may be benign in 38% of cases. Since the intraoperative diagnosis is difficult to reach in particular in small lesion (&lt; 8 mm) and the risk of tissue loss in frozen section analysis occurs frequently, we propose a diagnostic flow chart for the best management of small testis lesions. This proposed protocol has to be shown in details to physicians and patients, who must understand the clinical implications and the risk to undergo a second radical surgery.
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Chaulin, Aleksey. "Metabolic Pathway of Cardiac Troponins and Its Diagnostic Value." Vascular Health and Risk Management Volume 18 (March 2022): 153–80. http://dx.doi.org/10.2147/vhrm.s335851.

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Brindle, M. J. "Children with urinary tract infection; a critical diagnostic pathway." Clinical Radiology 41, no. 2 (February 1990): 95–97. http://dx.doi.org/10.1016/s0009-9260(05)80136-9.

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Azmy, Amir. "Children with urinary tract infection: A critical diagnostic pathway." Journal of Pediatric Surgery 25, no. 9 (September 1990): 1009. http://dx.doi.org/10.1016/0022-3468(90)90310-6.

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Kusamura, Shigeki, Dario Baratti, Michele De Simone, Enrico Maria Pasqual, Luca Ansaloni, Daniele Marrelli, Manuela Robella, et al. "Diagnostic and Therapeutic Pathway in Diffuse Malignant Peritoneal Mesothelioma." Cancers 15, no. 3 (January 21, 2023): 662. http://dx.doi.org/10.3390/cancers15030662.

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Diffuse malignant peritoneal mesothelioma (DMPM) is a rare form of mesothelioma that carries a very poor prognosis. The 5-year overall survival is about 20% (±5.9). Survival is optimal for patients suitable for cytoreductive surgery (CRS) with Hyperthermic Intraperitoneal Chemotherapy (HIPEC), with a median OS ranging from 34 to 92 months. However, selecting patients for surgery remains a complex task and requires a careful preoperative workup, rational analysis of prognostic profiles, and risk prediction models. Systemic chemotherapy could be offered: (1) in the adjuvant setting for high-risk patients; (2) for patients not eligible for CRS; and (3) for those with recurrent disease. It mainly includes the combination of Platin compound with Pemetrexed or immunotherapy. The biology of DMPM is still largely unknown. However, progress has been made on some fronts, such as telomere maintenance mechanisms, deregulation of apoptosis, tyrosine kinase pathways, and mutation of BRCA1-associated protein 1 (BAP1). Future perspectives should include translational research to improve our understanding of the disease biology to identify druggable targets. We should also clear the role of immune checkpoint inhibitors and investigate new locoregional technologies, such as pressurized intraperitoneal aerosol chemotherapy (PIPAC) or normothermic intraperitoneal chemotherapy (NIPEC).
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Ahmajärvi, Kirsti, Kirsi Isoherranen, and Maarit Venermo. "Cohort study of diagnostic delay in the clinical pathway of patients with chronic wounds in the primary care setting." BMJ Open 12, no. 11 (November 2022): e062673. http://dx.doi.org/10.1136/bmjopen-2022-062673.

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ObjectivesExact wound diagnosis is essential for successful wound management and a holistic care of the patient suffering from a wound. Wound management has been traditionally seen as a nursing area, but this can lead to considerable delays in wound diagnostics. A diagnostic delay has been recognised as an element of diagnostic error, which, in turn, affects patient safety. The aim of this cohort study was to examine diagnostic delays of chronic wound within primary care.SettingA specialised diagnostic unit, a wound care team, was established in the primary healthcare with the objective of reducing diagnostic and treatment delays in primary care.ParticipantsThe data consists of 197 consecutive patients attending their first appointment with the wound care team in 2016. The collected data included basic demographics, information about the clinical pathway, including doctor’s appointments in primary and specialised care, as well as the International Classification of Diseases 10th Revision (ICD-10) diagnostic codes.Primary and secondary outcome measuresThe diagnostic delays were calculated in days and divided into three groups: (1) patient-related delay, (2) diagnostic delay and (3) organisational delay.ResultsThe median duration of a patient-related delay was 2 days (IQR 0–14), whereas a physician’s first evaluation was performed at a median of 8 (1–32) days from wound appearance and the correct diagnosis by the wound care team was established in a median of 57 (33–100) days. The organisational delay from first contact to diagnosis was a median of 41 (22–80) days. Only one in three patients had a diagnostic delay of less than 4 weeks.ConclusionsAccording to this study, the diagnostic delay occurs within primary care, as an organisational delay from first contact to correct diagnosis. It is possible to arrange an optimal pathway of care in which a holistic wound care process starts within primary care.
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Niu, Jiangtao, Hongqi Xu, and Bo Yang. "Intracranial Infections in Neurological Surgery: The Changes of Circular RNA Expression and Their Possible Function Mechanism." BioMed Research International 2020 (May 5, 2020): 1–8. http://dx.doi.org/10.1155/2020/2536272.

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Background and Objective. Circular RNA (circRNA) often has high stability and has been widely studied as diagnostic markers in many diseases, including neurodegenerative disorders, diabetes, and various types of cancers. In this study, circRNA was evaluated as a diagnostic marker for central nervous system infection in neurological surgery. Methods. circRNA expression was analysed in six cerebrospinal fluid (CSF) samples from three patients of the infectious and noninfectious phases using an Arraystar Human circRNA Array. Differentially altered circRNAs were validated by quantitative real-time polymerase chain reaction (qRT-PCR) in the 66 CSF samples of 33 patients of the infectious and noninfectious phases. t-test was used for statistical analysis. A bioinformatics analysis was employed to investigate the function mechanism of the circRNAs. Results. Firstly, 142 circRNAs were found significantly different in 6 CSF samples of the infection and noninfection phases of 3 patients. Fourteen circRNAs with the top largest fold changes were chosen from the 142 circRNAs for PCR validation in the same 6 CSF samples of 3 patients. Three circRNAs were selected to be validated in 60 CSF samples of 30 patients using the PCR test. In infection CSF, an upregulated hsa_circRNA_402632 and downregulated hsa_circRNA_008636 and hsa_circRNA_405481 were confirmed by PCR test. A bioinformatics analysis was used to investigate the function mechanism of the 3 circRNAs. hsa_circRNA_402632 is enriched in the insulin resistance pathway, the FoxO and AMPK signaling pathways are the most important pathways for hsa_circRNA_008636 gene expression, and hsa_circRNA_405481 is enriched in the endometrial cancer signaling pathway, Fc epsilon RI signaling pathway, and TGF-beta signaling pathway. Conclusions. hsa_circRNA_402632, hsa_circRNA_008636, and hsa_circRNA_405481 may be potential diagnostic markers for central nervous system infection after neurological surgery.
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Abrahamson, Vanessa, Wenjing Zhang, Patricia M. Wilson, William Farr, Venkat Reddy, Jeremy Parr, Anna Peckham, and Ian Male. "Realist evaluation of Autism ServiCe Delivery (RE-ASCeD): which diagnostic pathways work best, for whom and in what context? Findings from a rapid realist review." BMJ Open 11, no. 12 (December 2021): e051241. http://dx.doi.org/10.1136/bmjopen-2021-051241.

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ObjectivesWaiting times in the UK for an autism diagnostic assessment have increased rapidly in the last 5 years. This review explored research (including ‘grey’ literature) to uncover the current evidence base about autism diagnostic pathways and what works best, for whom and in what circumstances, to deliver high quality and timely diagnosis.DesignWe performed a Rapid Realist Review consistent with recognised standards for realist syntheses. We collected 129 grey literature and policy/guidelines and 220 articles from seven databases (January 2011–December 2019). We developed programme theories of how, why and in what contexts an intervention worked, based on cross comparison and synthesis of evidence. The focus was on identifying factors that contributed to a clearly defined intervention (the diagnostic pathway), associated with specific outcomes (high quality and timely), within specific parameters (Autism diagnostic services in Paediatric and Child & Adolescent Mental Health services in the UK). Our Expert Stakeholder Group, including representatives from local parent forums, national advocacy groups and clinicians, was integral to the process.ResultsBased on 45 relevant articles, we identified 7 programme theories that were integral to the process of diagnostic service delivery. Four were related to the clinical pathway: initial recognition of possible autism; referral and triaging; diagnostic model; and providing feedback to parents. Three programme theories were pertinent to all stages of the referral and diagnostic process: working in partnership with families; interagency working; and training, service evaluation and development.ConclusionsThis theory informed review of childhood autism diagnostic pathways identified important aspects that may contribute to efficient, high quality and family-friendly service delivery. The programme theories will be further tested through a national survey of current practice and in-depth longitudinal case studies of exemplar services.Trial registration numberNCT04422483.
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Lin, Shangjin, Ming Ling, Cong Chen, Xiaoxi Cai, Fengjian Yang, and Yongqian Fan. "Screening Potential Diagnostic Biomarkers for Age-Related Sarcopenia in the Elderly Population by WGCNA and LASSO." BioMed Research International 2022 (September 13, 2022): 1–14. http://dx.doi.org/10.1155/2022/7483911.

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Background. Sarcopenia is a common chronic disease characterized by age-related decline in skeletal muscle mass and function, and the lack of diagnostic biomarkers makes community-based screening problematic. Methods. Three gene expression profiles related with sarcopenia were downloaded and merged by searching the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) and eigengenes of a module in the merged dataset were identified by differential expression analysis and weighted gene coexpression network analysis (WGCNA), and common genes (CGs) were defined as the intersection of DEGs and eigengenes of a module. CGs were subjected to gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. Subsequently, the least absolute shrinkage and selection operator (LASSO) analysis was performed to screen the CGs for identifying the diagnostic biomarkers of sarcopenia. Based on the diagnostic biomarkers, we established a novel nomogram model of sarcopenia. At last, we validated the diagnostic biomarkers and evaluated the diagnostic performance of the nomogram model by the area under curve (AUC) value. Results. We screened out 107 DEGs and 788 eigengenes in the turquoise module, and 72 genes were selected as CGs of sarcopenia by intersection. GO analysis showed that CGs were mainly involved in metal ion detoxification and mitochondrial structure, and KEGG analysis revealed that CGs were mainly enriched in the mineral absorption, glucagon signaling pathway, FoxO signaling pathway, insulin signaling pathway, AMPK signaling pathway, and estrogen signaling pathway. Then, six diagnostic biomarkers (ARHGAP36, FAM171A1, GPCPD1, MT1X, ZNF415, and RXRG) were identified by LASSO analysis. Finally, the validation AUC values indicated that the six diagnostic biomarkers had high diagnostic accuracy for sarcopenia. Conclusion. We identified six diagnostic biomarkers with high diagnostic performance, providing new insights into the incidence and progression of sarcopenia in future research.
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Zhong, Chenming, Zijun Xie, Jinze Shen, Yunhua Jia, and Shiwei Duan. "LINC00665: An Emerging Biomarker for Cancer Diagnostics and Therapeutics." Cells 11, no. 9 (May 4, 2022): 1540. http://dx.doi.org/10.3390/cells11091540.

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Long intergenic noncoding RNA 00665 (LINC00665) is located on human chromosome 19q13.12. LINC00665 was upregulated in eighteen cancers and downregulated in two cancers. LINC00665 not only inhibits 25 miRNAs but also directly affects the stability of ten protein-coding genes. Notably, LINC00665 also encodes a micro-peptide CIP2A-BP that promotes triple-negative breast cancer progression. LINC00665 can participate in five signaling pathways to regulate cancer progression, including the Wnt/β-catenin signaling pathway, TGF-β signaling pathway, NF-κB signaling pathway, PI3K/AKT signaling pathway, and MAPK signaling pathway. Aberrant expression of LINC00665 in breast cancer, gastric cancer, and hepatocellular carcinoma can be used for disease diagnosis. In addition, aberrant expression of LINC00665 is closely associated with clinicopathological features and poor prognosis of various cancers. LINC00665 is closely associated with the effects of anticancer drugs, including gefitinib and cisplatin in non-small cell lung cancer, gemcitabine in cholangiocarcinoma, and cisplatin-paclitaxel in breast cancer. This work systematically summarizes the diagnostic and prognostic values of LINC00665 in various tumors, and comprehensively analyzes the molecular regulatory mechanism related to LINC00665, which is expected to provide clear guidance for future research.
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Pearson, Clare, Veronique Poirier, Karen Fitzgerald, Greg Rubin, and Willie Hamilton. "Cross-sectional study using primary care and cancer registration data to investigate patients with cancer presenting with non-specific symptoms." BMJ Open 10, no. 1 (January 2020): e033008. http://dx.doi.org/10.1136/bmjopen-2019-033008.

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IntroductionPatients presenting to primary care with site-specific alarm symptoms can be referred onto urgent suspected cancer pathways, whereas those with non-specific symptoms currently have no dedicated referral routes leading to delays in cancer diagnosis and poorer outcomes. Pilot Multidisciplinary Diagnostic Centres (MDCs) provide a referral route for such patients in England.ObjectivesThis work aimed to use linked primary care and cancer registration data to describe diagnostic pathways for patients similar to those being referred into MDCs and compare them to patients presenting with more specific symptoms.MethodsThis cross-sectional study linked primary care data from the National Cancer Diagnosis Audit (NCDA) to national cancer registration and Route to Diagnosis records. Patient symptoms recorded in the NCDA were used to allocate patients to one of two groups - those presenting with symptoms mirroring referral criteria of MDCs (non-specific but concerning symptoms (NSCS)) and those with at least one site-specific alarm symptom (non-NSCS). Descriptive analyses compared the two groups and regression analysis by group investigated associations with long primary care intervals (PCIs).ResultsPatients with NSCS were more likely to be diagnosed at later stage (32% stage 4, compared with 21% in non-NSCS) and via an emergency presentation (34% vs 16%). These patients also had more multiple pre-referral general practitioner consultations (59% vs 43%) and primary care-led diagnostics (blood tests: 57% vs 35%). Patients with NSCS had higher odds of having longer PCIs (adjusted OR: 1.24 (1.11 to 1.36)). Patients with lung and urological cancers also had higher odds of longer PCIs overall and in both groups.ConclusionsDifferences in the diagnostic pathway show that patients with symptoms mirroring the MDC referral criteria could benefit from a new referral pathway.
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Klimek, Ludger, Lars Lange, Lea Alexandra Blum, Felix Klimek, Katja Nemat, Imke Reese, and Katharina Blumchen. "White paper on peanut allergy: treatment pathway." Allergo Journal International 30, no. 8 (December 2021): 287–89. http://dx.doi.org/10.1007/s40629-021-00195-1.

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Summary Background Peanuts are a member of the legume family (botanical family Leguminosae) and peanut allergies are the most common cause of food anaphylaxis in many countries. The prevalence of peanut allergy is increasing. Methods Experts from Germany and Austria performed a standardized literature search and published their consensus recommendations in a White Paper on Peanut Allergy, which this care pathway is based upon, thus, providing a comprehensive diagnosis and treatment algorithm. Results The most important diagnostic key elements include a detailed clinical medical history, evidence of peanut-specific sensitization by means of skin prick testing and/or in vitro determination of the peanut (extract)-specific IgE and/or the molecular component diagnostics (most important Ara h 2-specific IgE, sometimes also Ara h1-, 3-, 6-, 8- and 9-specific IgE) as well as the gold standard, the double-blind, placebo-controlled food challenge. The diagnostic algorithms were created for the following constellations: Suspected primary peanut allergy with a clear history of systemic immediate-type reaction, suspected primary peanut allergy with questionable symptoms, suspected secondary (possibly pollen-associated) peanut allergy with a history of solely oropharyngeal symptoms and incidental finding of sensitization and no peanut ingestion so far. Conclusions After established diagnosis the standard of care is counseling to avoid peanut contact and prescription of emergency medications (oral antihistamines, oral steroids, inhaled β2-agonists, injectable intramuscular epinephrine) as needed. Instruction on the use of these emergency medications should be provided. A preparation for oral immunotherapy (OIT) for 4 to 17 years old peanut allergic children/ adolescents has been recently approved by the regulatory authorities. OIT for peanut allergy shows high efficacy and an acceptable safety profile, improves quality of life, and health economic aspects. Thus it offers a therapeutic option for peanut allergic children and adolescents.
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Nobre, Liana, Adrian Levine, Scott Milos, Monique Johnson, Benjamin Laxer, Scott Ryall, Robert Siddaway, Uri Tabori, and Cynthia Hawkins. "LGG-60. Development and implementation of a complementary diagnostic tool to detect targetable pathways in pediatric glioma patients." Neuro-Oncology 24, Supplement_1 (June 1, 2022): i102. http://dx.doi.org/10.1093/neuonc/noac079.371.

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Abstract Pediatric Low grade gliomas are mainly driven by MAPK alterations including mutations in BRAF (BRAF fusions and BRAFV600) and FGFR. This has led to the study of BRAF, MEK and more recently FGFR inhibitors resulting in variable responses. We hypothesize that differing levels of RAS_MAPK coupled with alternate pathway activation may be driving this variability. To address this, we designed a custom NanoString assay that integrates proteomic and transcriptomic profiling of 4 key cancer-related, actionable pathways (MAPK, PI3K-AKT-mTOR, JAK-STAT, and NFkB) with robust results on formalin-fixed paraffin embedded tissue, including archival samples up to approximately 15 years old. We validated this assay using 15 gold standard cell lines with defined changes in each pathway including both isogenic activating mutations and perturbation with inhibitors. These findings were confirmed using data from the Cancer Cell Line Encyclopedia. The panel was further validated using a cohort of 40 low grade glioma samples with available RNAseq data where the RNA expression signatures had high concordance between assays. We have currently run the assay on over 200 surgical tumor samples, including 206 gliomas, 15 ependymomas, 11 medulloblastomas, 14 high grade gliomas and 10 control normal brain specimens. Findings indicate significant variability in pathway activations between tumors, although PLGG overall have higher MAPK activation scores than control tissue and other tumor types, a subset of these tumors have increased activity in PIK , JAK and NFKB pathways, underscoring the importance of integrating transcriptomic and proteomic information in precision oncology treatments. Finally, single cell RNA sequencing data from pilocytic astrocytomas demonstrates significant heterogeneity in pathway activation states within the tumor cells, as well as high pathway activations in some tumor associated microglia. This raises further research questions regarding the role of tumor heterogeneity in treatment failures and the impact of targeted therapies on the tumor immune microenvironment.
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Sundaralingam, Anand, Eihab O. Bedawi, and Najib M. Rahman. "Diagnostics in Pleural Disease." Diagnostics 10, no. 12 (December 4, 2020): 1046. http://dx.doi.org/10.3390/diagnostics10121046.

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Pleural disease diagnostics represent a sprawling topic that has enjoyed a renaissance in recent years from humble beginnings. Whilst pleural patients are heterogeneous as a population and in the aetiology of the disease with which they present, we provide an overview of the typical diagnostic approach. Pleural fluid analysis is the cornerstone of the diagnostic pathway; however, it has many shortcomings. Strong cases have been made for more invasive upfront investigations, including image-guided biopsies or local anaesthetic thoracoscopy, in selected populations. Imaging can guide the diagnostic process as well as act as a vehicle to facilitate therapies, and this is never truer than with the recent advances in thoracic ultrasound.
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Han, Ji Eun Diana, Xiaoxuan Liu, Catey Bunce, Abdel Douiri, Luke Vale, Ann Blandford, John Lawrenson, et al. "Teleophthalmology-enabled and artificial intelligence-ready referral pathway for community optometry referrals of retinal disease (HERMES): a Cluster Randomised Superiority Trial with a linked Diagnostic Accuracy Study—HERMES study report 1—study protocol." BMJ Open 12, no. 2 (February 2022): e055845. http://dx.doi.org/10.1136/bmjopen-2021-055845.

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IntroductionRecent years have witnessed an upsurge of demand in eye care services in the UK. With a large proportion of patients referred to Hospital Eye Services (HES) for diagnostics and disease management, the referral process results in unnecessary referrals from erroneous diagnoses and delays in access to appropriate treatment. A potential solution is a teleophthalmology digital referral pathway linking community optometry and HES.Methods and analysisThe HERMES study (Teleophthalmology-enabled and artificial intelligence-ready referral pathway for community optometry referrals of retinal disease: a cluster randomised superiority trial with a linked diagnostic accuracy study) is a cluster randomised clinical trial for evaluating the effectiveness of a teleophthalmology referral pathway between community optometry and HES for retinal diseases. Nested within HERMES is a diagnostic accuracy study, which assesses the accuracy of an artificial intelligence (AI) decision support system (DSS) for automated diagnosis and referral recommendation. A postimplementation, observational substudy, a within-trial economic evaluation and discrete choice experiment will assess the feasibility of implementation of both digital technologies within a real-life setting. Patients with a suspicion of retinal disease, undergoing eye examination and optical coherence tomography (OCT) scans, will be recruited across 24 optometry practices in the UK. Optometry practices will be randomised to standard care or teleophthalmology. The primary outcome is the proportion of false-positive referrals (unnecessary HES visits) in the current referral pathway compared with the teleophthalmology referral pathway. OCT scans will be interpreted by the AI DSS, which provides a diagnosis and referral decision and the primary outcome for the AI diagnostic study is diagnostic accuracy of the referral decision made by the Moorfields-DeepMind AI system. Secondary outcomes relate to inappropriate referral rate, cost-effectiveness analyses and human–computer interaction (HCI) analyses.Ethics and disseminationEthical approval was obtained from the London—Bromley Research Ethics Committee (REC 20/LO/1299). Findings will be reported through academic journals in ophthalmology, health services research and HCI.Trial registration numberISRCTN18106677 (protocol V.1.1).
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Khare, Satya Rashi, Sreenath Arekunnath Madathil, Gerald Batist, and Isabelle Vedel. "Lung Cancer Pre-Diagnostic Pathways from First Presentation to Specialist Referral." Current Oncology 28, no. 1 (January 11, 2021): 378–89. http://dx.doi.org/10.3390/curroncol28010040.

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Background: Lung cancer is often diagnosed at a late stage with high associated mortality. Timely diagnosis depends on timely referral to a respiratory specialist; however, in Canada, little is known about how patients move through primary care to get to a respiratory specialist. Accordingly, we aimed to identify and describe lung cancer pre-diagnostic pathways in primary care from first presentation to referral. Methods: In this retrospective cohort study, patients with primary lung cancer were recruited using consecutive sampling (n = 50) from a lung cancer center in Montréal, Québec. Data on healthcare service utilization in primary care were collected from chart reviews and structured patient interviews and analyzed using latent class analysis to identify groups of patients with similar pre-diagnostic pathways. Each group was described based on patient- and tumor-related characteristics and the sequence of utilization activities. Results: 68% of the patients followed a pathway where family physician (FP) visits were dominant (“FP-centric”) and 32% followed a pathway where walk-in clinic and emergency department (ED) visits were dominant (“ED-centric”). Time to referral in the FP group was double that of the ED group (45 days (IQR: 12–111) vs. 22 (IQR: 5–69)) with more advanced disease (65% vs. 50%). In the FP group, 29% of the patients saw their FP three times or more before being referred and 41% had an ED visit. Conclusions: Our findings may reflect the challenge of diagnosing lung cancer in primary care, missed opportunities for earlier diagnosis, and a lack of integration between primary and specialist care.
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