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A de novo int22h-1/int22h-2-flanked Xq28 deletion-associated preferential X-inactivation in a female with severe hemophilia B.
Pediatr Blood Cancer
December 2024
Division of Pediatric Hematology and Oncology, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Article Synopsis
- - A 5-year-old girl with severe hemophilia B started having frequent muscle and joint bleeds at 19 months old.
- - Genetic testing identified a mutation in the factor IX gene, as well as a large deletion in the Xq28 region, which is crucial for her condition.
- - These findings not only clarify the severity of her hemophilia but also assist in family planning discussions for her family.
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.
J Clin Immunol
January 2024
Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.
Article Synopsis
- Common variable immunodeficiency (CVID) is a diverse group of disorders marked by low immunoglobulin levels, difficulty producing specific antibodies, and frequent infections, with complex genetic underpinnings that include both monogenic and polygenic factors.
- This study focused on investigating the effects of skewed X-chromosome inactivation (XCI) in female CVID patients with rare X-linked gene variants, finding that 75% of the patients analyzed showed skewed XCI with the mutated allele predominantly expressed.
- The findings suggest that skewed XCI plays a role in a small proportion of CVID cases among females, contributing to its intricate genetic landscape and supporting the idea of polygenic influences in the condition.
Time to death and its determinant factors of visceral leishmaniasis with HIV co-infected patients during treatment period admitted at Metema hospital, Metema, Ethiopia: a hospital-based cross-sectional study design.
Trop Dis Travel Med Vaccines
October 2023
Department of Statistics, College of Natural and Computational Sciences, Oda Bultum University, Chiro, Ethiopia.
Background: Visceral leishmaniasis is caused by the parasites Leishmania donovani spices complex that can spread to internal organs and the disease is fatal with a fatality rate of nearly 100% if left untreated. Visceral Leishmania-HIV (HIV1) coinfection disease is a new clinical form of leishmaniasis very serious disease in the endemic part of the world. It also served as the primary cause of death in the lowlands of Ethiopia with the endemic Humara and Metema that are located near the Sudanese border.
View Article and Find Full Text PDFX chromosome inactivation skewing is common in advanced carotid atherosclerotic lesions in females and predicts secondary peripheral artery events.
Biol Sex Differ
July 2023
Laboratory of Experimental Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Article Synopsis
- - The study explores sex differences in atherosclerosis, particularly focusing on X chromosome inactivation (XCI) skewing in women's atherosclerotic plaques and its potential impact on cardiovascular health and risk factors.
- - Analyzing 154 plaques and 55 blood samples, they found XCI skewing present in about half of the plaques, with no correlation to clinical risk factors but a significant association with plaque hemorrhage.
- - Importantly, while skewed plaques didn't predict major cardiovascular incidents overall, they were linked to an increased risk of peripheral artery events within three years following surgical intervention.
Preferential X Chromosome Inactivation as a Mechanism to Explain Female Preponderance in Myasthenia Gravis.
Genes (Basel)
April 2022
Department of Translational Research and of New Surgical and Medical Technologies, Medical School, University of Pisa, 56126 Pisa, Italy.
Myasthenia gravis (MG) is a neuromuscular autoimmune disease characterized by prevalence in young women (3:1). Several mechanisms proposed as explanations for gender bias, including skewed X chromosome inactivation (XCI) and dosage or sex hormones, are often involved in the development of autoimmunity. The skewed XCI pattern can lead to an unbalanced expression of some X-linked genes, as observed in several autoimmune disorders characterized by female predominance.
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