Background: Hemophilia is an inherited recessive hemorrhagic disorder of the X-linked type, suffered by the male sex. Adults with hemophilia are coping with numerous diagnostics, associated comorbidities, pain, and difficult gait by arthropathy in ankles and feet. Physical pains contribute to depression in patients with hemophilia.
Purpose: The study aimed to assess the impact of depression in adult patient with hemophilia and to compare it with healthy matched-paired controls. The sample consisted of 100 participants (median age 42.50 ± 30). Patients with hemophilia were recruited from Spanish Hemophiliac Associations ( = 50) and healthy subjects ( = 50) from a Clinic Podiatry Practices (University of Malaga, Spain).
Results: Results and categories of the Spanish-translated version of the Beck Depression Inventory (BDI) were gathered. A clear statistically significant difference ( < 0.001) was presented in the variation of the BDI scores between both groups. Patients with hemophilia presented worse results with a BDI = 7.50 ± 11.25 points compared to healthy subjects with BDI = 2.50 ± 5 points. In the BDI categories, statistically significant differences ( = 0.004) were found in greater BDI categories in the Hemophilia group compared with healthy subjects. Moderate and severe depression categories were only shown in patients with hemophilia.
Conclusions: Greater depression scores and range status were observed in patients with hemophilia compared to non-patients with hemophilia. Patients with hemophilia are at increased risk of depressiveness.
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http://dx.doi.org/10.3389/fpsyt.2022.892321 | DOI Listing |
Am J Med Genet A
January 2025
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Australia.
We describe the phenotypic and genotypic spectrum of patients with vascular anomaly (VA) in a paediatric multi-disciplinary VA clinic. We measured the clinical utility of genotyping by comparing pre and posttest diagnosis and management. A 46-month retrospective analysis occurred for 250 patients offered genetic testing in the VA clinic.
View Article and Find Full Text PDFBackground: When using electronic health records (EHRs) to conduct population-based studies on inherited bleeding disorders (IBDs), using diagnosis codes alone results in a high number of false positive identifications.
Objective: The objective of this study was to develop and validate an algorithm that uses multiple data elements of EHRs to identify pregnant women with IBDs.
Methods: The population included pregnant women who had at least one live birth or fetal death (>20 weeks gestation) at our institution from 2016 to 2023.
Life (Basel)
November 2024
Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, 20157 Milan, Italy.
Background: Although more than four years have passed since the pandemic began, SARS-CoV-2 continues to be of concern. Therefore, research into the underlying mechanisms that contribute to the development of the disease, especially in more severe forms, remains a priority. Sustained activation of the complement (CS), contact (CAS), and fibrinolytic and kinin-kallikrein systems (KKS) has been shown to play a central role in the pathogenesis of the disease.
View Article and Find Full Text PDFAm J Ther
January 2025
Anesthesiology and Perioperative Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA.
Clinical Features: Sickle cell patients may develop a multitude of antibodies and experience life-threatening events with transfusion such as hyperhemolysis syndrome or delayed hemolytic transfusion reaction. Further transfusion may not be possible in such cases.
Therapeutic Challenge: When conventional blood products are not available for transfusion yet the patient requires additional oxygen-carrying support, artificial oxygen carriers may be required.
Exp Mol Med
January 2025
Department of Physiology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, Korea.
Hemophilia A (HA) is caused by mutations in coagulation factor VIII (FVIII). Genome editing in conjunction with patient-derived induced pluripotent stem cells (iPSCs) is a promising cell therapy strategy, as it replaces dysfunctional proteins resulting from genetic mutations with normal proteins. However, the low expression level and short half-life of FVIII still remain significant limiting factors in the efficacy of these approaches in HA.
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