Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Dental Considerations in Children with Inherited Bleeding Disorders and Inhibitors: A Systematic Review.
J Clin Med
December 2024
Faculty of Medicine, University of Novi Sad, 21000 Novi Sad, Serbia.
: This systematic review evaluates the effectiveness of various hematological treatment protocols and local hemostatic measures in preventing oral bleeding and other complications during and after dental treatments in children with inherited bleeding disorders and inhibitors. : This study was registered in the PROSPERO database. The comprehensive search strategy for this systematic review was conducted across five databases, namely, PubMed, Google Scholar, Web of Science, Scopus, and Cochrane Library.
View Article and Find Full Text PDFBleeding Symptoms in Pediatric Patients with Congenital FVII Deficiency and Correlation to Thrombin Generation Assay Parameters: A Single-Center Retrospective Analysis.
Life (Basel)
November 2024
Onco-Hematology, Cell and Gene Therapy and Bone Marrow Transplant Clinic Area, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Inherited factor VII deficiency is the most common rare bleeding disorder, affecting about 1/500,000 individuals without gender predilection. Most of the patients with FVII 20-50% are asymptomatic, but post-traumatic or post-surgical bleeding may often occur since there is not an exact correlation between FVII plasma levels and the bleeding phenotype. We enrolled 19 children and adolescents with FVII levels of 20-35% and 33 controls.
View Article and Find Full Text PDFWhen "loss-of-function" means proteostasis burden: Thinking again about coding DNA variants.
Am J Hum Genet
January 2025
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Each human genome has approximately 5 million DNA variants. Even for complete loss-of-function variants causing inherited, monogenic diseases, current understanding based on gene-specific molecular function does not adequately predict variability observed between people with identical mutations or fluctuating disease trajectories. We present a parallel paradigm for loss-of-function variants based on broader consequences to the cell when aberrant polypeptide chains of amino acids are translated from mutant RNA to generate mutated proteins.
View Article and Find Full Text PDFFLI1 and GATA1 govern transcription: new insights into FLI1-related platelet disorders.
Haematologica
January 2025
Aix Marseille Univ, INSERM, INRAe, C2VN, Marseille.
Germline variants of FLI1, essential for megakaryopoiesis, are linked to bleeding disorders, platelet aggregation defects and mild thrombocytopenia. However, the mechanisms behind these abnormalities remain unclear. This study aims to elucidate the impact of FLI1 variants on human megakaryocytes and platelets.
View Article and Find Full Text PDFRare Inherited Coagulation Deficiencies: A Single-Center Study.
J Pediatr Hematol Oncol
December 2024
Pediatrics Clinic, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Background: Rare factor deficiency (RFD) is characterized by a deficiency of factor (F)I, FII, FV, FVII, FX, FXI, FXII, FXIII, or a combined deficiency of FV+FVIII or vitamin K-dependent factors. The prevalence of RFD ranges from 1/1,000,000 to 3,000,000. Combined deficiencies of vitamin K-related factors have been described in 30 families worldwide, and these patients can present with a wide range of clinical symptoms, from mucocutaneous bleeding to life-threatening symptoms such as central nervous system and gastrointestinal bleeding.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!