Articoli di riviste: "Blood disorder"

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Khan, KausarRehman. "Thalassemia: Genetically transmitted blood disorder". Acta Medica International 2, n. 2 (2015): 195. http://dx.doi.org/10.5530/ami.2015.5.7.

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Zonda, Tamas, e David Lester. "Blood Type and Bipolar Disorder". Perceptual and Motor Skills 95, n. 3 (dicembre 2002): 988. http://dx.doi.org/10.2466/pms.2002.95.3.988.

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SAITO, HIDEHIKO. "Blood coagulation disorder Thrombotic tendency." Nihon Naika Gakkai Zasshi 88, n. 9 (1999): 1668–78. http://dx.doi.org/10.2169/naika.88.1668.

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Coghlan, Andy. "Gene therapy cures blood disorder". New Scientist 207, n. 2778 (settembre 2010): 12. http://dx.doi.org/10.1016/s0262-4079(10)62249-x.

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Godara, Amandeep, Nauman Siddiqui, Zarmina Khan, Ankit Kansagra, Jean Yared e Saurabh Dahiya. "Blood and Blues: Prevalence of Mental Health Disorders in Patients Hospitalized with Acute Leukemia". Blood 132, Supplement 1 (29 novembre 2018): 4871. http://dx.doi.org/10.1182/blood-2018-99-120239.

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Abstract Introduction: Approximately 1.5% of population will be diagnosed with leukemia in their lifetime (SEER Cancer Statistics Review). Diagnosis of acute leukemia has an overwhelming effect on the patient and their families. Besides the diagnosis, effect of chemotherapeutic agents and agony over the ultimate outcome can also affect emotional-behavioral wellbeing. Evolution of depression as a disorder, along the course of acute leukemia has been reported in the past (David et al Procedia Soc & Behav Sci 2014). We investigated the prevalence of mental health disorders in hospitalized patients admitted with acute leukemia diagnosis utilizing Healthcare Utilization Project National Inpatient Sample (HCUP NIS), 2002-2014. HCUP-NIS is the largest publicly available all-payer inpatient health care database in the United States, and is a 20% stratified sample of all hospital discharges. Methods: We identified hospitalizations for acute leukemia using ICD-9 codes (203.XX, 204.XX, 205.XX, 206.XX, 207.XX and 208.XX) in the NIS database. We included patients with a primary diagnosis of acute leukemia (myeloid, lymphoid and plasma cell leukemia) including admissions for inpatient chemotherapy and/or complications requiring hospitalization. Similarly, ICD-9 codes were used to identify patients with mental health disorders of interest (ADHD, adjustment disorder, alcohol abuse, anxiety disorder, mood disorders, personality disorders, schizophrenia, substance abuse, childhood disorders). "Surveyfreq" was used to calculate proportions while "Surveymeans" was used to calculate median length of stay and hospital charges. Cochran-Armitage test was used to analyze trends; Kruskal-Wallis test was used for non-parametric data. We used chi-square for categorical data frequency, P value of < 0.05 was considered statistically significant. All analysis was performed using SAS 9.4. Results: We identified a total of 59,223 patients with mental health disorders (18.4%) out of a total of 321223 hospitalizations for acute leukemia (table 1). Median age for patients with mental health disorders is 56 years. Mood disorder was most prevalent at 8% followed by anxiety disorder at 6%. Within all mental disorders, mood disorders comprised 44% of all cases followed by anxiety disorder at 32% (figure 1). Over 60% of mental health disorders were in patient age group above 50 years (figure 2). Prevalence of mental health disorders has increased from 10% to 28% between 2002 and 2014 (figure 3). Prevalence of anxiety disorder has increased 6 fold between 2002 (2%) and 2014 (12%). It is unclear if this change is due to an actual increase in the prevalence of this condition or better recognition of mental health disorders leading to better coding. Median length of stay (LOS) is significantly longer in patients with mental health disorders compared to those without (18 days vs 9 days respectively). Median charges for hospitalization are also significantly increased in patients with mental health disorders than those without ($119,245 vs $62,132 respectively). Conclusion: Mental health disorders are common in patients with acute leukemia. One in four patients (28%) in 2014 had a mental health disorder compared to 9% in 2002. Given the retrospective nature of our study, it is difficult to determine if this is an actual increase in the incidence and prevalence of mental health disorders or if better recognition and medical coding contributes to this finding. Our study shows a disproportionate burden of mental health disorders in patients above the age 50, which constitutes the majority of the patients diagnosed with acute leukemia. Use of mental health screening tools in this population could provide an avenue for recognition and possible early intervention. Given the retrospective nature of our study, these findings need to be validated in a prospective patient population. Disclosures No relevant conflicts of interest to declare.

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Fedoseyeva, I. F., T. V. Poponnikova e A. V. Veremeyev. "Noradrenaline state in children with a tic disorders". Bulletin of Siberian Medicine 8, n. 1(2) (28 febbraio 2009): 87–89. http://dx.doi.org/10.20538/1682-0363-2009-1(2)-87-89.

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The content of noradrenaline in blood serum in 28 children 6–16 years of age with tic disorder was analyzed. It was detected reliable descent the content of noradrenaline in blood serum of the children with a tic disorders compared the group of healthy children. Authors suppose that metabolism of noradrenaline takes part in pathogenesis of tic disorder, emotional and behavioral disorders.

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Means, Robert T. "Pure red cell aplasia". Blood 128, n. 21 (24 novembre 2016): 2504–9. http://dx.doi.org/10.1182/blood-2016-05-717140.

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Abstract Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents. The therapeutic approach to PRCA typically involves immunosuppression, but specific pathogenic subtypes are associated with specific therapeutic approaches. Cyclosporine A, with or without concurrent corticosteroids, appears to be the single most effective immunosuppressive agent.

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Nair, Arun B. "Proportion of Raised Blood Pressure and Raised Blood Sugar Level in Newly Diagnosed Attention Deficit Hyperactivity Disorder in Children". Journal of Medical Science And clinical Research 05, n. 03 (23 maggio 2017): 19260–66. http://dx.doi.org/10.18535/jmscr/v5i3.150.

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Romanenko, S. Yu, K. V. Vilchevska, I. O. Bakhchivandzhi e Yu V. Martinenko. "A rare disorder of blood coagulation". Modern pediatrics. Ukraine, n. 6(126) (29 ottobre 2022): 97–100. http://dx.doi.org/10.15574/sp.2022.126.97.

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The problem of impaired hemostasis remains relevant even today. Rare bleeding disorders that cause life-threatening bleeding in patient are often overlooked by clinicians. Rare blood coagulation disorders are a genetically determined group of coagulopathies caused by a deficiency of blood plasma proteins involved in hemostasis, as well as a deficiency of fibrinogen, prothrombin, blood coagulation factor V (FV), blood coagulation factors V and VIII (FV+FVIII), blood coagulation factor VII (FVII), blood coagulation factor X (FX), blood coagulation factor XI (FXI), blood coagulation factor XII (FXII), blood coagulation factor XIII (FXIII), which are clinically are manifested by bleeding. The amount of the factor determines not only the nature of bleeding, but also their severity and prognosis for the disease. In such patients, the general hemostatic balance is important, since the level of each blood coagulation factor and the general control of hemostasis, which can determine the risk of bleeding, remain important. Purpose - to draw the attention of doctors of various specialties to the problem of clinical manifestations of rare hereditary disorders of blood coagulation, which can be accompanied by bleeding that poses a threat to the health and life of patient. Clinical case. A clinical case is presented that illustrates the course of a rare blood coagulation disorder in children from one family, where a comprehensive diagnostic search was conducted by doctors of various specialties to establish a final diagnosis. Conclusions. Rare blood coagulation disorders are a pathology that is not often found in the population, but clinical symptoms can have negative consequences for a person's health and life. Children with various manifestations of hemorrhagic syndrome need a thorough diagnostic examination in specialized laboratories. Physicians of related specialties should look for a possible rare deficiency of the coagulation factor in early and late complications in the postoperative period or after medical manipulations. It is necessary to remember the hereditary genesis of this pathology and examine all family members. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

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Olaiya, Oluwaseun, Zuri Hudson, Eryn Bilynsky, Hung-Wen Yeh e Shannon L. Carpenter. "Bleeding Disorder Referrals to Hematology Clinic: A Single Institution Experience". Blood 136, Supplement 1 (5 novembre 2020): 4–5. http://dx.doi.org/10.1182/blood-2020-140552.

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BACKGROUND Our tertiary care pediatric hematology/oncology/BMT service receives hundreds of referrals yearly for bleeding disorder evaluation both due to bleeding symptoms and secondary to routine preoperative laboratory testing prior to elective surgery. The evaluation for a bleeding disorder can be challenging due to the wide variability of symptoms as well as the need for accurate interpretation of lab results. In 2014, Bhasin et al., Pediatric Hematology and Oncology showed that 4% of patients referred to hematology based on a preoperative coagulation evaluation had a clinically relevant bleeding disorder. Currently there is little literature about the referral patterns to pediatric hematology and the outcomes of these referrals. OBJECTIVES To characterize our hematology referrals for bleeding disorder, work up To describe the diagnostic outcomes from these referrals To estimate the proportion of bleeding disorders diagnosed from these referrals To identify referral factors that are associated with being diagnosed with a bleeding disorder DESIGN/METHOD This is a single center, retrospective chart review. Patients referred and or seen for a bleeding disorder evaluation at Children's Mercy Hospital from 07/1/2018 until 06/30/19 were evaluated for demographics, reason for consultation, referring provider, and outcome of referral. Akaike Information Criterion (AIC) was applied to logistic regression to identify factors associated with diagnosis of bleeding disorder. RESULTS A total of 373 patients were included and demographics are detailed in Table 1. Forty patients were diagnosed with a bleeding disorder, 78 patients were lost to follow up or have work up still in progress, and 255 patients had a bleeding disorder ruled out. Of our referred patient sample, 6% (21/373) were diagnosed with von Willebrand disease, 4% (14/373) were diagnosed with a platelet function disorder, and 1.3% (5/373) were diagnosed with a coagulation factor deficiency. The median time between referral and appointment was 31.5 days with a median of 2 total visits including clinic and laboratory visit for a clinical diagnosis. Forty percent of referrals were for preoperative clearance, 36% for family history, and 57% for symptoms. Of the patients referred for symptoms, 22.7% were referred for bruising and 83.9% for bleeding. Thirty eight percent had previously been treated for symptoms through hormone management, nasal cauterization, surgical intervention, or other methods. Forty four percent (164/373) of the referrals were from Otolaryngology, 30% from primary care including adolescent medicine and gynecology, and 27% from other specialties. Seventy percent of referrals were internal from specialties within our institution. The results indicate that the odds of a bleeding disorder diagnosis decrease by 8% for every year increment in age and was 3 times higher among patients having abnormal coagulation labs at the time of referral as compared to their counterpart when other variables were controlled. Logistic regression model showing referral factors that could be associated with bleeding disorder diagnosis are detailed in table 3. CONCLUSION This study characterizes the bleeding disorder referral patterns at our institution including the proportion of bleeding disorders diagnosed. This study also highlighted certain referral factors such as age, gender, referral for preoperative clearance, previous treatment with nasal cauterization and the presence of abnormal lab values that could be predictive of the presence of a bleeding disorder. Limitations of this study include the small number of patients with confirmed diagnosis and that it is conducted at a single center. Additionally, at our center, referrals are screened by a physician prior to being seen, which could have influenced the results. We illustrate that large-scale studies are needed to determine referral factors associated with the diagnosis of a bleeding disorder. Disclosures Carpenter: American Academy of Pediatrics: Other: PREP Heme/Onc editorial board; Hemostasis & Thrombosis Research Society: Membership on an entity's Board of Directors or advisory committees; Shire: Research Funding; CSL Behring: Research Funding; American Thrombosis and Hemostasis Network: Membership on an entity's Board of Directors or advisory committees; Genentech, Inc.: Honoraria; Kedrion: Honoraria; Novo Nordisk: Honoraria.

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Lucey, J. V., Durval C. Costa, Gwen Adshead, Martin P. Deahl, Geraldo Busatto, Sveto Gacinovic, Michael Travis et al. "Brain blood flow in anxiety disorders". British Journal of Psychiatry 171, n. 4 (ottobre 1997): 346–50. http://dx.doi.org/10.1192/bjp.171.4.346.

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BackgroundWe compared regional cerebral blood flow (rCBF) in three groups of patients with DSM–III–R anxiety disorders.MethodFifteen patients with obsessive–compulsive disorder (OCD), 15 with panic disorder with agoraphobia (PA), and 16 with post-traumatic stress disorder (PTSD) and a similar group of healthy controls were assessed on brain-dedicated high-resolution SPET.ResultsMANOVA revealed significant rCBF differences between diagnostic groups (F=4.4; d.f.=3, 57; P=0.007) and between cerebral regions (F=6.4; d.f.=1, 57; P=0.01) in OCD and PTSD compared with PA and healthy controls, limited to bilateral superior frontal cortices and right caudate nuclei. Whole brain blood flow correlated positively with anxiety (r=0.24, n=46, P=0.05). Beck depression scores correlated significantly negatively with left caudate rCBF (r= –0.24, n=46, P=0.05) and right caudate rCBF (r= –0.31, n=46, P=0.02). PTSD syndrome severity correlated significantly negatively with the left caudate (r=-0.49, n=16. P=0.03) and with right caudate rCBF (r=-0.7, n=16, P=0.001)ConclusionsFunctional rCBF differences in anxiety disorders could relate to repetitive, intrusive, distressing mental activity, prominent in both OCD and PTSD.

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Rubin, Rita. "New Treatment for Rare Blood Disorder". JAMA 326, n. 23 (21 dicembre 2021): 2354. http://dx.doi.org/10.1001/jama.2021.22226.

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WATANABE, AKIHARU. "Hepatic disorder caused by blood disease." Kanzo 38, n. 6 (1997): 345–48. http://dx.doi.org/10.2957/kanzo.38.345.

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Murphy, Michael, e Christopher Bass. "CEREBRAL BLOOD FLOW IN PANIC DISORDER". Lancet 332, n. 8618 (ottobre 1988): 1027. http://dx.doi.org/10.1016/s0140-6736(88)90792-1.

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Elitzur, Sarah, Joanne Yacobovich, Orly Dgany, Tatyana Krasnov, Yoram Rosenbach e Hannah Tamary. "From Blood Smear to Lipid Disorder". Journal of Pediatric Hematology/Oncology 35, n. 8 (novembre 2013): e329-e331. http://dx.doi.org/10.1097/mph.0b013e318271c915.

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Hvistendahl, M. "China Heads Off Deadly Blood Disorder". Science 340, n. 6133 (9 maggio 2013): 677–78. http://dx.doi.org/10.1126/science.340.6133.677.

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Seregin, A. A., L. P. Smirnova, E. M. Dmitrieva, S. N. Vasil’eva, A. V. Semke e S. A. Ivanova. "Glutamate Level’s in Blood Serum of Patients with Schisophrenic Spectrum and Bipolar Affective Disorder". Psikhiatriya 18, n. 3 (20 settembre 2020): 22–31. http://dx.doi.org/10.30629/2618-6667-2020-18-3-22-31.

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The objective: the involvement of glutamatergic neurotransmitter systems in the pathogenesis of schizophrenic spectrum disorders and BD has been repeatedly proven. But today, there are no methods available to evaluate the glutamate metabolism in patients with mental disorders. The paper presents differences in the level of glutamate in the blood serum of patients with a schizophrenic spectrum disorder, bipolar disorder, and healthy individuals.Patients and methods: the study included 224 people. 179 patients were presented with paranoid schizophrenia, simple schizophrenia, schizotypal disorder, acute polymorphic disorder, schizoaffective disorder and BD.Results: in this work shows that the level of glutamate in patients in all studied groups is statistically significantly higher than in healthy individuals, except for acute polymorphic psychotic disorder. Serum glutamate concentration in patients with schizotypal disorder is 1.6 times higher than in healthy individuals. The significant differences in glutamate levels were detected in patients with schizotypal disorder and OCD (p = 0.045), and patients with paranoid schizophrenia (p = 0.012). The concentration of glutamate is also increased in patients with simple schizophrenia compared to patients with paranoid schizophrenia (p = 0.039). In addition, it was observed a glutamate increase in healthy individuals compared in patients with a continuous course of schizophrenia (p = 0.001), in patients with an episodic course with progressive deficit (p = 0.0211) and in patients with a schizophrenia duration of more than 12 years.Conclusions: thus, the concentrations of glutamate in the blood serum of patients are depending on the severity of the course of schizophrenia and maybe an additional paraclinical criterion for the diagnosis of schizotypal disorder.

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Moiz, Bushra, e Maria Shafiq. "Transient myeloproliferative disorder". Blood 120, n. 24 (6 dicembre 2012): 4672. http://dx.doi.org/10.1182/blood-2012-07-440917.

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Koraishy, Farrukh M., Joanne Salas, Thomas C. Neylan, Beth E. Cohen, Paula P. Schnurr, Sean Clouston e Jeffrey F. Scherrer. "Association of Severity of Posttraumatic Stress Disorder With Inflammation: Using Total White Blood Cell Count as a Marker". Chronic Stress 3 (gennaio 2019): 247054701987765. http://dx.doi.org/10.1177/2470547019877651.

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Background Inflammation is known to be associated with posttraumatic stress disorder. It is not known if total white blood cell count, a routinely checked inflammatory marker, is associated with posttraumatic stress disorder symptom trajectories using medical record data. Methods We used latent class growth analysis to identify three-year posttraumatic stress disorder symptom trajectories using posttraumatic stress disorder (PTSD) Checklist (PCL) scores. The outcome for each patient was maximum white blood cell count from index posttraumatic stress disorder diagnosis to last PCL . Using linear regression analysis, we then calculated and compared the average white blood cell count for each trajectory before and after controlling for age, gender, race, obesity, smoking, diabetes, hypertension, cardiovascular disease, depression, and other comorbid inflammatory conditions. Results Patients were 40.2 (SD ± 13.5) years of age, 83.7% males and 67.9% white. We identified three PCL trajectory groups based on symptom severity over time: “moderate-large decrease,” “moderate-severe-slight decrease,” and “severe-persistent.” In adjusted analyses, “severe-persistent” versus “moderate-large decrease” had significantly higher white blood cell count (B = 0.64; 95%CI = 0.18, 1.09; p = .006). Although non-significant, “moderate-severe-slight decrease” versus “moderate-large decrease” also had a higher white blood cell count (B = 0.42; 95% CI: −0.02, 0.86; p = .061). Conclusion Persistently severe posttraumatic stress disorder is associated with a higher white blood cell count than improving posttraumatic stress disorder. White blood cell appears to have utility for measuring the association between psychiatric disorders and inflammation in retrospective cohort studies involving large administrative medical record data bases.

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Shinohara, Michi M., e Andrei Shustov. "How I treat primary cutaneous CD30+ lymphoproliferative disorders". Blood 134, n. 6 (8 agosto 2019): 515–24. http://dx.doi.org/10.1182/blood.2019000785.

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Abstract The primary cutaneous CD30+ lymphoproliferative disorders are a family of extranodal lymphoid neoplasms that arise from mature postthymic T cells and localize to the skin. Current classification systems recognize lymphomatoid papulosis (LyP), primary cutaneous anaplastic large cell lymphoma, and borderline cases. In the majority of patients, the prognosis of primary cutaneous CD30+ lymphoproliferative disorders is excellent; however, relapses are common, and complete cures are rare. Skin-directed and systemic therapies are used as monotherapy or in combination to achieve the best disease control and minimize overall toxicity. We discuss 3 distinct presentations of primary cutaneous CD30+ lymphoproliferative disorder and present recommendations for a multidisciplinary team approach to diagnosis, evaluation, and management of these conditions in keeping with existing consensus guidelines.

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Litvitskiy, P. F. "Regional blood flow and microcirculation disorders". Regional blood circulation and microcirculation 19, n. 1 (6 aprile 2020): 82–92. http://dx.doi.org/10.24884/1682-6655-2020-19-1-82-92.

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The lecture analyzes modern data on the types, etiology, key stages of pathogenesis, manifestations and consequences of typical forms of regional blood flow and microcirculation disorders. The lecturer dwells on typical forms of regional blood flow (in medium vessels): pathological arterial hyperemia, venous hyperemia, ischemia, and stasis. The variants of ischemia associated with increased arterial inflow to tissue or organ are considered as compared to medium-normal inflow. The lecture provides data on typical hemolymph microcirculation disorders, including intravascular, transmural, extravascular disorders, as well as capillary-trophic insufficiency as a final result of one or more microcirculatory disorders. The blood sludge phenomenon is characterized as a pathology of the blood aggregate state, which is either a cause or a consequence of a microhemocirculation disorder. The lecture is recommended for students, medical residents, post-graduate students, and trainees of the system of post-graduate professional education at medical universities.

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Vuk Pisk, S., K. Matic, E. Ivezic, N. Geres e I. Filipcic. "comparisation of ABO blood groups between female patiens diagnosed with depressive disorders an bipolar affective disorders". European Psychiatry 65, S1 (giugno 2022): S851. http://dx.doi.org/10.1192/j.eurpsy.2022.2206.

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Introduction The prevalence of ABO alleles in population is different. Many studies confirmed the correlation between the occurrences of some diseases with different genotypes of ABO blood groups. Studies had shown possible differencese between patients with depressive dissorder and bipolar affective disorders according to ABO blood groups. There are contradictory results; some studies had shown significant association between blood group O and BAP, other showed relationship between unipolar depression and blood type O. Others shoedn association between involuntary depression and blood group A and negative association between blood group A and BAP. Objectives The purpose of this study was to reassess the potential diferences between patients with depressive dissorder and bipolar affective disorders according to ABO blood groups. Methods A total of 97 adult female psychiatric inpatients participated in this study. 57,7% were diagnosed with depressive disorder and 42,3% were diagnosed with bipolar affective disorder. Type of ABO group were measured from the blood samples taken in the morning after 30 min rest. From whole blood, genomic DNA was isolated on QIAcube device (Qiagen, Germany) using QIAamp DNA Blood mini QIAcube kit (Qiagen, Germany). ABO genotyping on 5 basic ABO alleles was performed using allele-specific PCR. Results Comparing ABO blood groups between female patients who are suffering from depressive disorders and bipolar affective disorders, we didn’t found any differences. In both examination groups, higher proportion of A blood group was significant. Conclusions The results of this study didn’t support the hypothesis of diferences in ABO blood group between depressive disorders and bipolar affective disorders. Disclosure No significant relationships.

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Halimeh, Susan, Hannelore Rott, Manuela Siebert e Guenther Kappert. "Is a Pbac-Score a Good Tool to Quantify Menorrhagia in Women with Von Willebrand Disease and Rare Bleeding Disorders?" Blood 120, n. 21 (16 novembre 2012): 1133. http://dx.doi.org/10.1182/blood.v120.21.1133.1133.

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Abstract Abstract 1133 Introduction: Von Willebrand disease (VWD) is the most common inherited bleeding disorder. VWD and other autosomal inherited bleeding disorders equally affect women and men. Menorrhagia or severe menstrual bleeding (HMB) is the most common symptom of women with bleeding disorders. HMB is defined as bleeding that lasts for more than seven days or as the loss of more than 80 mL of blood per menstrual cycle. The menstrual blood loss can be quantified by the use of a pictorial bleeding assessement chart (PBAC). Samples and methods: In 195 women with menorrhagia and in 45 controls menstrual blood loss was quantified using pictorial blood assesment charts (PBAC) and results were compared. Results: In 169 of 195 women (86%) a bleeding disorder could be detected. In those with a bleeding disorder, the distribution was as followed: 62% had a von Willebrand disease, 14,4% had a factor-VII-deficiency (F7D), 5% had a factor-XIII-deficiency (F13D) and the remaining 18,6% had other beedling disorders (e. g. hypofibrinogenaemia and other mild factor deficiencies). The median PBAC-Score of all patients was 268 (range: 10–4212). In our controi group of 45 women the median PBAC-Score was 46,5 (3- 137).ROC-Analysation shows that the PBAC (AUC=0.977) is much more useful than the number of bleeding days (AUC=0.855) in order to distingish controls from patients suffering from menorrhagia due to a coagulation disorder. We found that the best cutoff for the PBAC is 100 with an sensitifity of 88% and a specifity of 97%. Discussion: Attempts to measure the quantity of menstrual blood loss can be useful in clinic practice. One study found that variables predicting a blood loss higher than 80ml per menses were clots greater than one inch, low ferritin levels, or changing a pad or tampon more than hourly (flooding). A prospective method of quantifying menstrual blood loss includes the use of a pictorial bleeding assessement calendar (PBAC). We are of the opinion, that we would have detected more bleeding disorder also in the patients, where we did not find any diagnosis until now, if we would have controlled them more than one time during the cycle period. Conclusions: Women with hyermenorrhagia frequently suffer from a bleeding disorder, in 86% of our patients an abnormal coagulation was found. The PBAC-Score is an easy tool to quantify menstrual blood loss in women. In our study a PBAC-Score above 100 was suspicious of having a bleeding disorder. Disclosures: No relevant conflicts of interest to declare.

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Munir, Iqra, e Sidra Raza. "A Review on Red Blood Disorder: Thalassemia". JOURNAL OF MICROBIOLOGY AND MOLECULAR GENETICS 2, n. 2 (25 luglio 2021): 1–8. http://dx.doi.org/10.52700/jmmg.v2i2.29.

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Thalassemia is classified as major (homozygous), minor (heterozygous) or intermedia (compound heterozygous). It’s diagnosed is based on hematological findings whereas molecular genetic analysis has also been gradually developed. Due to untreatable nature of thalassemia, it is important to adopt preventive measures. In this regard, the community awareness, carrier testing and genetic counselling are important milestones. Region-wise division of thalassemia mutations is diverse in distinct provinces. HBB: c.92+5G > C represents raised incidence in Balochistan and Sindh. HBB: c.27_28insG is most common in KPK and Punjab. Similarly, NG_000007.3: g.71609_72227del619 has its roots previously in India subsequently in Gujratis along with Memon community populating Sindh. Widespread family testing can employ DNA-based genomic analysis in areas where consanguine marriages are usual. An assessed carrier ratio for HBV (3-5%) along with (4-5%) for hepatitis C virus being found in Pakistan due to asymptomatic distribution. Bone marrow transplantation is the only solution to get rid from thalassemia major complications and this facility is accessible ever since 1999 in Pakistan.

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Morinobu, Shigeru, Katsuo Sagawa, Shinobu Kawakatsu, Shiro Totsuka e Akio Komatani. "Regional Cerebral Blood Flow in Affective Disorder". Psychiatry and Clinical Neurosciences 46, n. 2 (giugno 1992): 570. http://dx.doi.org/10.1111/j.1440-1819.1992.tb00944.x.

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Nelson, Kathleen. "Rare blood disorder links kinases and cancer". Lancet Oncology 4, n. 5 (maggio 2003): 264. http://dx.doi.org/10.1016/s1470-2045(03)01064-7.

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Bolwig, T. G. "Regional cerebral blood flow in affective disorder". Acta Psychiatrica Scandinavica 87, S371 (maggio 1993): 48–53. http://dx.doi.org/10.1111/j.1600-0447.1993.tb05374.x.

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Aschenbrenner, Diane S. "New Drug Treats Rare Blood Clotting Disorder". AJN, American Journal of Nursing 119, n. 6 (giugno 2019): 24. http://dx.doi.org/10.1097/01.naj.0000559801.16738.00.

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Sancar, Feyza. "New Treatment for Rare Blood Clotting Disorder". JAMA 321, n. 11 (19 marzo 2019): 1042. http://dx.doi.org/10.1001/jama.2019.1826.

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Dominica, Dian, Silvia Naliani, Shelly Lelyana e Ferry Sandra. "Biomarkers of Temporomandibular Disorders". SONDE (Sound of Dentistry) 3, n. 1 (14 luglio 2019): 41–47. http://dx.doi.org/10.28932/sod.v3i1.1782.

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Temporomandibular disorder is a disorder that includes masticatory muscles or temporomandibular joints, unbalanced joint function or both. The disorders can disturb daily activity, cause by pain. The therapy consuming time and cost. Early detection of temporomandibular disorder is needed, as a prevention of more severe disorders. Increased cortisol can be found in myofacial pain and is not found in internal dearagement or osteoarthritis. Biomarkers of interleukin and monocyte chemoattractant proteins are only found in osteoarthritis. The use of biomarkers can be useful in detecting temporomandibular disorders. Biomarkers can be measured from blood, serum and saliva. Cortisol, dopamine and TAC are potential biomarkers in the temporomandibular disorder.

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Yektas, Cigdem, Ali Tufan, Onder Kilicaslan, Merve Yazici, Sumeyra Karakaya e Enes Sarigedik. "Elevated Monocyte Levels Maybe a Common Peripheral Inflammatory Marker in Specific Learning Disorders and Attention Deficit/Hyperactivity Disorder". Psychiatry and Behavioral Sciences 12, n. 3 (2022): 125. http://dx.doi.org/10.5455/pbs.20210518080022.

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Aim: the primary aim of this study was to determine whether the neutrophil / lymphocyte ratio, mean platelet volume, monocyte/ lymphocyte ratio and distribution width of red blood cells are different in children with specific learning disorders compared to healthy controls. The second aim of the study is to investigate the relationships of those inflammatory markers with SLDs clinical severity. Methods: A total of 100 drug-naive participants, aged 7-12 years, who were newly diagnosed as having specific learning disorders according to the DSM-5 criteria were compared with a healthy control group of 75 age, sex matched children. the neutrophil / lymphocyte ratio, mean platelet volume, monocyte/ lymphocyte ratio and distribution width of red blood cells were measured according to the complete blood count. Results: specific learning disorders significantly affected monocyte levels and tended to affect monocyte/ lymphocyte ratio and neutrophil levels while attention deficit hyperactivity disorder diagnosis significantly affected monocyte levels and mean platelet volume and also tended to affect distribution width of red blood cells. Specific learning disorders symptom severity did not correlate significantly with peripheral inflammatory markers. Conclusions: This study is the first to investigate the effect of peripheral inflammatory markers in a large specific learning disorders sample by controlling attention deficit hyperactivity disorder comorbidity. The findings demonstrated that the monocyte levels are higher in both specific learning disorders and attention deficit hyperactivity disorder groups suggesting that elevated monocyte levels may be a common marker in the inflammatory pathophysiology.

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Wirgenes, Katrine Verena, Martin Tesli, Elin Inderhaug, Lavinia Athanasiu, Ingrid Agartz, Ingrid Melle, Timothy Hughes, Ole Andreas Andreassen e Srdjan Djurovic. "ANK3 gene expression in bipolar disorder and schizophrenia". British Journal of Psychiatry 205, n. 3 (settembre 2014): 244–45. http://dx.doi.org/10.1192/bjp.bp.114.145433.

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SummaryANK3 gene variants have consistently been associated with bipolar spectrum disorder and schizophrenia spectrum disorder. However, the relevance of its encoded protein, ankyrin-3, in these disorders remains elusive. Here, we show that ANK3 gene expression in blood is significantly increased in bipolar disorder and schizophrenia compared with healthy controls. Additionally, we identified potential cis-acting expression quantitative trait loci located close to the transcription start site of one of the isoforms of the gene. These findings suggest that ANK3 mRNA is an interesting marker for further investigation of the underlying mechanisms in psychotic disorders.

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Zhao, Yue, e Endi Wang. "Plasmablastic myeloma/leukemia variant of monomorphic posttransplant lymphoproliferative disorder". Blood 138, n. 16 (21 ottobre 2021): 1510. http://dx.doi.org/10.1182/blood.2021012185.

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Du, Ming-Qing, Tim C. Diss, Hongxiang Liu, Hongtao Ye, Rifat A. Hamoudi, José Cabeçadas, Henry Y. Dong et al. "KSHV- and EBV-associated germinotropic lymphoproliferative disorder". Blood 100, n. 9 (1 novembre 2002): 3415–18. http://dx.doi.org/10.1182/blood-2002-02-0487.

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Abstract Kaposi sarcoma–associated herpesvirus (KSHV) is known to be associated with 3 distinct lymphoproliferative disorders: primary effusion lymphoma (PEL), multicentric Castleman disease (MCD), and MCD-associated plasmablastic lymphoma. We report 3 cases of a previously undescribed KSHV-associated lymphoproliferative disorder. The disease presented as localized lymphadenopathy and showed a favorable response to chemotherapy or radiotherapy. Histologically, the lymphoproliferation is characterized by plasmablasts that preferentially involved germinal centers of the lymphoid follicles, forming confluent aggregates. They were negative for CD20, CD27, CD79a, CD138, BCL6, and CD10 but showed monotypic κ or λ light chain. Clusters of CD10+CD20+ residual follicle center cells were identified in some of the follicles. The plasmablasts were positive for both KSHV and EBV, and most of them also expressed viral interleukin-6 (vIL-6). Unexpectedly, molecular analysis of whole tissue sections or microdissected KSHV-positive aggregates demonstrated a polyclonal or oligoclonal pattern of immunoglobulin (Ig) gene rearrangement. The plasmablasts showed somatic mutation and intraclonal variation in the rearranged Ig genes, and one case expressed switched Ig heavy chain (IgA), suggesting that they originated from germinal center B cells. We propose calling this distinctive entity “KSHV-associated germinotropic lymphoproliferative disorder.”

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Klion, Amy D., Melissa A. Law, William Riemenschneider, Mary Lou McMaster, Margaret R. Brown, McDonald Horne, Barbara Karp et al. "Familial eosinophilia: a benign disorder?" Blood 103, n. 11 (1 giugno 2004): 4050–55. http://dx.doi.org/10.1182/blood-2003-11-3850.

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Abstract Familial eosinophilia (FE) is an autosomal dominant disorder characterized by marked eosinophilia and progression to end organ damage in some, but not all, affected family members. To better define the pathogenesis of FE, 13 affected and 11 unaffected family members (NLs) underwent a detailed clinical evaluation at the National Institutes of Health (NIH). No clinical abnormalities were more frequent in the family members with FE compared with the NLs. There was, however, a decreased prevalence of asthma in family members with FE compared with unaffected family members. Eosinophil morphology as assessed by either light or transmission electron microscopy was normal in family members with and without FE. Although levels of eosinophil-derived neurotoxin (EDN) and major basic protein (MBP) were elevated in patients with FE compared with NL, levels of both granule proteins were lower than in nonfamilial hypereosinophilic syndrome (HES). Similarly, increased surface expression of the activation markers CD69, CD25, and HLA-DR was detected by flow cytometry on eosinophils from patients with FE compared with NL, albeit less than that seen in HES. These data suggest that, despite prolonged marked eosinophilia, FE can be distinguished from HES by a more benign clinical course that may be related to a relative lack of eosinophil activation.

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Varon, David. "A bleeding disorder is born". Blood 115, n. 2 (14 gennaio 2010): 157–58. http://dx.doi.org/10.1182/blood-2009-10-250613.

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de Jong, Simone, Stephen J. Newhouse, Hamel Patel, Sanghyuck Lee, David Dempster, Charles Curtis, Jose Paya-Cano et al. "Immune signatures and disorder-specific patterns in a cross-disorder gene expression analysis". British Journal of Psychiatry 209, n. 3 (settembre 2016): 202–8. http://dx.doi.org/10.1192/bjp.bp.115.175471.

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BackgroundRecent studies point to overlap between neuropsychiatric disorders in symptomatology and genetic aetiology.AimsTo systematically investigate genomics overlap between childhood and adult attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and major depressive disorder (MDD).MethodAnalysis of whole-genome blood gene expression and genetic risk scores of 318 individuals. Participants included individuals affected with adult ADHD (n = 93), childhood ADHD (n = 17), MDD (n = 63), ASD (n = 51), childhood dual diagnosis of ADHD–ASD (n = 16) and healthy controls (n = 78).ResultsWeighted gene co-expression analysis results reveal disorder-specific signatures for childhood ADHD and MDD, and also highlight two immune-related gene co-expression modules correlating inversely with MDD and adult ADHD disease status. We find no significant relationship between polygenic risk scores and gene expression signatures.ConclusionsOur results reveal disorder overlap and specificity at the genetic and gene expression level. They suggest new pathways contributing to distinct pathophysiology in psychiatric disorders and shed light on potential shared genomic risk factors.

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Patrone, Deanira, Nicola Alessio, Nicola Antonucci, Anna Lisa Brigida, Gianfranco Peluso, Umberto Galderisi e Dario Siniscalco. "Optimization of Peripheral Blood Mononuclear Cell Extraction from Small Volume of Blood Samples: Potential Implications for Children-Related Diseases". Methods and Protocols 5, n. 2 (24 febbraio 2022): 20. http://dx.doi.org/10.3390/mps5020020.

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Managing medical procedures for children with problematic disorders is a challenging approach, especially in the case of blood withdrawal for autism spectrum disorder-affected children. Peripheral blood mononuclear cells (PBMC) represent an important cellular model to study immune responses and drug toxicity. The monocytic cells, a fraction of PBMC, are strongly involved in some pathophysiological processes, such as inflammation and immune system changes. Here, we propose a simple, reliable protocol for obtaining peripheral blood-derived mononuclear cells from small volumes of blood samples.

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Huang, Franklin W., Isabel Rubio-Aliaga, James P. Kushner, Nancy C. Andrews e Mark D. Fleming. "Identification of a novel mutation (C321X) in HJV". Blood 104, n. 7 (1 ottobre 2004): 2176–77. http://dx.doi.org/10.1182/blood-2004-01-0400.

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Abstract Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders. (Blood. 2004;104:2176-2177)

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Kalelioglu, Tevfik, Murat Kocabiyik, Burcu Kok, Pelin Unalan, Sule Sozen, Ozge Yuksel e Nesrin Karamustafalioglu. "Does Blood Flow Change according to Mood? Blood Rheology in Bipolar Disorder". Clinical Psychopharmacology and Neuroscience 16, n. 3 (31 agosto 2018): 310–15. http://dx.doi.org/10.9758/cpn.2018.16.3.310.

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Li, Ka, e Rafat Ahmed. "Providing Primary Care to Children Diagnosed with Myosin Heavy Chain 9-Related Platelet Disorder: A Case Report and Review of Literature". Blood 132, Supplement 1 (29 novembre 2018): 5828. http://dx.doi.org/10.1182/blood-2018-99-113967.

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Abstract Introduction: Myosin-heavy chain 9 (MYH9)-related platelet disorders are a group of rare inherited thrombocytopenias, encompassing four syndromes, such as May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome and Sebastian platelet syndrome. Typically diagnosed in adulthood, this disorder presents with chronic thrombocytopenia in all affected individuals with varying bleeding tendencies. Other clinical manifestations may include nephritis leading to end-stage renal disease, sensorineural hearing impairment and presenile cataracts. It is often misdiagnosed as autoimmune thrombocytopenia, which can lead to inappropriate treatment with corticosteroids or intravenous immunoglobulin for many years before the correct diagnosis is made.1 This case report describes the unique role of a pediatric hematologist to facilitate multidisciplinary care and services for a child diagnosed with MYH9-related disorder and illustrates the complex health care needs of this rare diagnosis in the pediatric populations. Case description: A 4-year-old girl of Mexican origin with a history of bilateral hearing loss and speech delay was first evaluated by audiology. Upon referral for a genetic evaluation, she was incidentally found to have asymptomatic thrombocytopenia. In the next four months, she received an extensive hematologic and infectious disease workup for the unexplained thrombocytopenia, while she was treated simultaneously for immune thrombocytopenia with corticosteroids or intravenous IgG. Neither of the interventions helped to normalize her persistently low platelet count (6,000-31,000), but instead led to sporadic intervals of undesirable weight gain and mood irritability. Further genetic testing with whole genome sequencing revealed a heterozygous pathogenic variant of MYH-9 mutation in the patient, who inherited the polymorphism from her father. Specifically, her variant exhibits complete penetrance for early-onset renal failure. As a result of the patient's platelet disorder and her frequent clinic visits to hematology, a close physician-patient relationship was developed thereafter. Her pediatric hematologist assumes the role of a primary care provider and coordinates multiple specialist visits to address her complex health care issues, including general pediatrics, speech therapy, audiology, otolaryngology, nephrology and medical genetics. Longitudinal care for this patient is mostly supportive: (1) platelet transfusion is required if she experiences any prolonged bleeding episodes; (2) prophylaxis with desmopressin is provided for dental and surgical procedures; (3) parents are counseled on child safety and limitations on major contact sports. Lastly, due to the identification of a pathogenic variant in both the patient and father, patient's brother and sister are both at increased risk of inheriting the platelet disorder. In our patient's case, since her family is limited by financial means for an evaluation with molecular testing, her siblings' platelet counts and sizes can be assessed instead with a CBC and peripheral blood smear. Discussion: The complexity of an inherited hematologic disorder involves multidisciplinary, longitudinal and lifelong care for optimal health care delivery and improved clinical outcomes. When approaching a pediatric patient diagnosed with a rare platelet disorder, the role of a hematologist becomes essential to be the primary care provider and to coordinate specialist visits for the patient without delays. Efficient care coordination with a focus on the patient's needs can avoid unnecessary duplication of tests and services.2 Children affected by rare genetic disorders, such as MYH-9 disorders, have complex unmet health needs and frequently experience unique barriers to care. Longitudinal surveillance is necessary to assess the progress of the MYH9 disease, and supportive care should be provided accordingly. References: Althaus, Karina, Greinacher, Andreas. MYH-9 Related Platelet Disorders: Strategies for Management and Diagnosis. Transfus Med Hemother, 2010 Lippe, Charlotte Von Der, et al. "Living with a Rare Disorder: a Systematic Review of the Qualitative Literature." Molecular Genetics & Genomic Medicine, vol. 5, no. 6, 2017, pp. 758-773., doi:10.1002/mgg3.315. Disclosures No relevant conflicts of interest to declare.

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Manogaran, Charles, e Shireen Kassam. "HHV8-associated lymphoproliferative disorder in the peripheral blood". Blood 131, n. 25 (21 giugno 2018): 2868. http://dx.doi.org/10.1182/blood-2018-04-837823.

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Bouchard, Maryse, David C. Bellinger, Jennifer Weuve, Julia Matthews-Bellinger, Stephen Gilman, Robert O. Wright, Joel Schwartz e Marc G. Weisskopf. "Blood Lead Levels and Major Depressive Disorder, Panic Disorder, and Generalized Anxiety Disorder in U.S. Young Adults". Epidemiology 20 (novembre 2009): S38. http://dx.doi.org/10.1097/01.ede.0000362292.40972.3a.

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Bouchard, Maryse F., David C. Bellinger, Jennifer Weuve, Julia Matthews-Bellinger, Stephen E. Gilman, Robert O. Wright, Joel Schwartz e Marc G. Weisskopf. "Blood Lead Levels and Major Depressive Disorder, Panic Disorder, and Generalized Anxiety Disorder in US Young Adults". Archives of General Psychiatry 66, n. 12 (1 dicembre 2009): 1313. http://dx.doi.org/10.1001/archgenpsychiatry.2009.164.

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Wu, Joanne, Randall Curtis, Megan M. Ullman, Judith Baker, Duc Quang Tran e Michael B. Nichol. "Depressive Disorders Among Adults with Hemophilia a". Blood 136, Supplement 1 (5 novembre 2020): 32. http://dx.doi.org/10.1182/blood-2020-137273.

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INTRODUCTION Depression can impact quality of life, functioning, and treatment adherence. However, depression in persons with hemophilia A (PwHA) is not uniformly examined nationwide. We report on depression and treatment-related hemophilia symptoms and utilization in a sample from six geographically representative U.S. Hemophilia Treatment Centers (HTCs). METHODS Hematology Utilization Group Studies part Va (HUGS Va, 2005-2007) was an observational study that collected data on sociodemographics and 12-Item Short Form Health Survey (SF-12) via patient survey, and clinical characteristics via medical chart review for adults (≥18 years old) with hemophilia A. Depressive disorders were assessed by the SF-12 mental component score (MCS), a validated population-based measure including depressive disorders. MCS≤45 has been identified as a depressive symptom threshold suggestive of a disorder. MCS≤36 indicate more severe psychological symptomatology and/or impairment. Demographic and clinical characteristic associations with depression were assessed using Chi-square tests. RESULTS The analysis included 147 adults with mean age 33.0±12.5 years old, 64% with severe hemophilia. Using the criteria of MCS≤45, 27.9% of sample had depressive disorder, and 10.2% had more severe depression at MCS≤36, higher than the 9.0% prevalence of current depression in the general U.S. population studied by CDC's Behavioral Risk Factor Surveillance System survey data (2006 and 2008). Compared with individuals with no depressive disorder, those with depression were less likely to complete their high school education (51.2% vs. 75.2%, P<0.01), had lower income<$40,000 (65.0% vs. 51%, P=0.20), were unemployed (56.1% vs. 31.1%, P<0.01), and lower rates of private health insurance coverage (41.5% vs. 61.0%, P=0.06). Those with depression were less likely to be treated prophylactically (22.0% vs. 31.1%, P=0.27), more likely to have joint pain or range of motion limitation (70.7% vs. 60.4%, P=0.24), and more likely to report barriers to hemophilia care (26.8% vs. 15.1%, P=0.1). The proportion of depressive disorders was not significantly different among levels of hemophilic severity (25.0% in mild/moderate hemophilia and 29.5% in severe, P=0.56). CONCLUSIONS This sample of PwHA reported higher rates of potentially depressive disorders than the general USA population. Lower educational levels, joint problems, and barriers to accessing care may be high-risk factors for depressive disorders. Disclosures Wu: Baxalta US Inc., Bannockburn, IL (a Takeda Company), CSL Behring L.L.C., and Octapharma USA, Inc.: Research Funding. Curtis:USC Hemophilia Utilization Group Study (HUGS): Consultancy; Patient Reported Outcomes, Burdens and Experiences: Consultancy; Bayer: Consultancy; Novo Nordisk: Consultancy. Tran:Bayer: Consultancy; Takeda: Consultancy; Bioverativ: Consultancy; Novo Nordisk: Consultancy. Nichol:Octapharma: Research Funding; CSL Behring: Research Funding; Baxalta US Inc., Bannockburn, IL (a Takeda Company): Research Funding; Genentech Inc.: Research Funding; Pfizer: Research Funding; Global Blood Therapeutics: Research Funding.

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Sharma, Neena. "Haemophilia B- A coagulation disorder". Indian Journal of Clinical Anatomy and Physiology 9, n. 1 (15 marzo 2022): 65–67. http://dx.doi.org/10.18231/j.ijcap.2022.015.

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Haemophilia is a group of inherited blood disorders in which blood does not clot properly. Bleeding disorders are due to defect in blood vessels, the coagulation mechanism or the blood platelets. When the coagulation factors are deficient, the blood does not clot properly and bleeding continues. Haemophilia is a X-linked recessive disorder that affects males, while the females are protected by normal gene on X-chromosome. Haemophilia-A is the most common genetic defect due to deficiency of Factor VIII while Haemophilia-B is the second most common genetic defect due to deficiency of Factor IX also called as Christmas disease.The present case report is of a 18-year-old male boy admitted in emergency wing of Government Medical College and Hospital, Jammu, who developed iliopsoas haematoma which after complete investigations revealed deficiency of clotting Factor IX.A report of presentation of a case of haemophilia-B.The present case report was done to demonstrate the sign and symptoms of haemophilia-B, complete haematological, bleeding and clotting test done for diagnosis and its treatment.The case of haemophilia-B presented with sudden inability to walk demonstrating right iliopsoas haematoma on ultrasonography. The patient was anaemic with haemoglobin – 7 gm%, TLC – 7000 mm and platelets 2.5 lakh/μl. The prothrombin time was decreased (10 seconds), activated partial thromboplastin time was increased (45 seconds), Factor VIII levels were within norrmal range, while Factor IX was decreased. Finally, a diagnosis of haemophilia-B was made.

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Nienhuis, Arthur W. "Development of gene therapy for blood disorders: an update". Blood 122, n. 9 (29 agosto 2013): 1556–64. http://dx.doi.org/10.1182/blood-2013-04-453209.

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Abstract This review addresses the current status of gene therapy for immunodeficiencies, chronic granulomatous disease, suicide gene therapy for graft-versus-host disease, viral infections, malignant hematologic disorders, hemophilia, and the hemoglobin disorders. New developments in vector design have fostered improved expression as well as enhanced safety, particularly of integrating retroviral vectors. Several immunodeficiencies have been treated successfully by stem cell–targeted, retroviral-mediated gene transfer with reconstitution of the immune system following infusion of the transduced cells. In a trial for hemophilia B, long-term expression of human FIX has been observed following adeno-associated viral vector–mediated gene transfer into the liver. This approach should be successful in treating any disorder in which liver production of a specific protein is therapeutic.

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He, Zong-Bao, You-Kui Lv, Hui Li, Qiong Yao, Ke-Ming Wang, Xiao-Ge Song, Zi-Jian Wu e Ximing Qin. "Atlantoaxial Misalignment Causes High Blood Pressure in Rats: A Novel Hypertension Model". BioMed Research International 2017 (2017): 1–8. http://dx.doi.org/10.1155/2017/5986957.

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Atlantoaxial disorders are often correlated with hypertension in practice. In order to study the relationship between atlantoaxial disorder and hypertension, we attempted to construct an animal model. In this work, we presented an animal model where their atlantoaxial joints were misaligned. We investigated the changes of blood pressure before and after treatments of the modeled rats. We had the following results. (1) SBP and DBP of each surgery group were significantly higher than those of control and sham groups. (2) After the second operation (the fixture was removed), SBP and DBP of both surgery groups decreased and got closer to the control and sham groups after 7 days. (3) Heart rates got significantly higher in both surgery groups, compared to control and sham groups. (4) The blood Ach levels of the surgery groups were significantly lower than those of control and sham groups. With these results, we concluded that we successfully constructed cervical atlantoaxial disorder models in rats that showed hypertension symptom. However, the underlying mechanism connecting atlantoaxial disorder and hypertension still requires further study.

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Tutik Nushah e Yuly Peristiowati. "Analysis of Preeclampsia in Pregnant Women Reviewing from Vascular Disorders due to Endothelial Dysfunction". STRADA Jurnal Ilmiah Kesehatan 11, n. 2 (30 novembre 2022): 95–108. http://dx.doi.org/10.30994/sjik.v11i2.928.

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Preeclampsia is a multisythemic disorder in pregnancy. Some theories reveal that PE is a result of imuune and hormonal response disorders during pregnancy. In the preeclampsia there is a endothelial dysfunction in the controlling vascular function to respond to blood composition and function disorder as a physical barrier to the exchange of fluid, ion proteins and cells from the blood through the vasculer wall. In addition, there is a decrease in angiogenesis and vasodilatation of blood vessels in response to oxygen pressure and mechanical stress like shear stress. Analyzing the incidence of preeclampsia in pregnant women in terms of vascular disorders doe to endothelial dysfunction. Design : observational, a cross sectional approach. Probability sampling using random sampling. Statistical analysis logistic regression. Data processing Hosmer and Lemeshow Test. Assumption of the amount of influence a summary model. PE incidence of pregnant woman 94 (6.15%), 53 people (56.4%) PE, 41 (43.6%) PEB.

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Kumar Mishra, Amit, e Archana Tiwari. "Alpha Thalassemia – A Rare but Perilous Blood Disorder". International Journal of Medicine and Public Health 2, n. 2 (10 maggio 2012): 3–6. http://dx.doi.org/10.5530/ijmedph.2.2.2.

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