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Congenital Factor VII Deficiency: A Case Study of Four Family Members.
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 PDFThe effect of acetylcysteine on the prothrombin time and international normalized ratio: a narrative review.
Clin 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 PDFFrequently arising ESX-1-associated phase variants influence fitness in the presence of host and antibiotic pressures.
mBio
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 PDFThe effect of coagulation traits on the risk of retinal vein occlusion: a mendelian randomization study.
Sci 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 PDFA 5-year Single-center Experience on the Use of Emicizumab Prophylaxis in Children With Severe Hemophilia A With and Without Factor VIII Inhibitors.
J 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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