Congenital deficit of Factor VII is a rare deficit perceived within women and men. Clinicaly it is manifested with mild hemoragical diatesa and of laboratory tests: prolonged on stage prothrombin time, reduced activity of Factor VII and normal APTT. In this article we describe the family in which we have found two cases of congenital deficit of Factor VII, biochemical characteristics, differential laboratory diagnosis and correction of deficit in the case of bleeding.
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Cureus
December 2024
Hematology, Avicenna Military Hospital, Marrakesh, MAR.
Congenital factor VII (FVII) deficiency is a rare genetic disorder with autosomal recessive inheritance, characterized by molecular and clinical heterogeneity. This article reports four Moroccan cases of FVII deficiency within the same family, two of which were associated with Gilbert's syndrome. The index case was a 15-year-old girl with a history of menorrhagia and jaundice.
View Article and Find Full Text PDFClin Toxicol (Phila)
January 2025
Department of Clinical Pharmacy and Pharmacology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Introduction: Patients poisoned with paracetamol are treated with acetylcysteine. In patients without hepatocellular injury, an increased prothrombin time or international normalized ratio has been observed during acetylcysteine administration. The international normalized ratio is preferred as it is a standardized calculation of prothrombin time independent of reagents and machinery.
View Article and Find Full Text PDFmBio
January 2025
Department of Microbiology, UMass Chan Medical School, Worcester, Massachusetts, USA.
Unlabelled: (Mtb) exhibits an impressive ability to adapt to rapidly changing environments, despite its genome's apparent stability. Recently, phase variation through indel formation in homopolymeric tracts (HT) has emerged as a potentially important mechanism promoting adaptation in Mtb. This study examines the impact of common phase variants associated with the ESX-1 type VII secretion system, focusing on a highly variable HT upstream of the ESX-1 regulatory factor, .
View Article and Find Full Text PDFSci Rep
January 2025
Department of Ophthalmology, The Second Hospital of Jilin University, #218 Ziqiang Street, Changchun, 130041, Jilin, China.
Retinal vein occlusion (RVO) is the leading cause of vision loss due to an obstruction in the retinal venous system. While RVO is often linked to thrombotic tendencies and coagulation abnormalities, the exact role of coagulation traits in its development is not fully understood. This study aims to investigate the potential causal relationship between coagulation traits and the risk of RVO by analyzing publicly available genome-wide association study (GWAS) summary statistics.
View Article and Find Full Text PDFJ Pediatr Hematol Oncol
January 2025
Department of Paediatric Haematology, NHS Foundation Trust, Birmingham Children's Hospital, Birmingham, UK.
Objective: Emicizumab promotes efficacious hemostasis in persons with hemophilia A persons with hemophilia A with and without inhibitors. Primary analyses of real-world data and clinical trials have shown emicizumab efficacy and safety; however, long-term data are limited.
Methods: This retrospective study was conducted to assess real-world long-term outcomes of pediatric patients on emicizumab in our hemophilia center between the period of February 2018 and September 2023.
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