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The B Chromosome of Pseudococcus viburni: A Selfish Chromosome that Exploits Whole-Genome Meiotic Drive.
Genome Biol Evol
January 2025
School of Biological Sciences, Institute of Ecology and Evolution, The University of Edinburgh, Edinburgh EH9 3FL, UK.
Meiosis is generally a fair process: each chromosome has a 50% chance of being included into each gamete. However, meiosis can become aberrant with some chromosomes having a higher chance of making it into gametes than others. Yet, why and how such systems evolve remains unclear.
View Article and Find Full Text PDFTesticular Torsion in a 14-Year-Old with Sertoli Cell Granular Cell Change and Sertoli Nodules.
Fetal Pediatr Pathol
January 2025
Department of Pathology, Louisiana State University Health Science Center and Children's Hospital of New Orleans, New Orleans Children's Hospital, New Orleans, LA, USA.
Sertoli eosinophilic granular change and Sertoli cell nodules are incidental findings. This details focal Sertoli eosinophilic granular and Sertoli cell only changes coincident with Sertoli cell nodules in a pubertal testis with acute torsion and bell clapper deformity. A 14-year-old with bell clapper deformity underwent orchiectomy for torsion.
View Article and Find Full Text PDFJAK2 V617F Mutation Leading to Portal Vein Thrombosis in a Young Patient: A Case Report.
Cureus
December 2024
Radiodiagnosis, Malla Reddy Medical College for Women, Hyderabad, IND.
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders commonly characterized by excessive production of blood cell lineages. The JAK2 V617F mutation plays a crucial role in the pathogenesis of these conditions, often leading to thrombotic complications. Here, we present the case of a 21-year-old man who presented with acute abdominal pain and was found to have portal vein thrombosis with splenomegaly.
View Article and Find Full Text PDFFactor XIII: Driving (Cross-)Links in Hemostasis, Thrombosis, and Disease.
Blood
January 2025
University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States.
Blood clots are complex structures composed of blood cells and proteins held together by the structural framework provided by an insoluble fibrin network. Factor (F)XIII is a protransglutaminase essential for stabilizing the fibrin network. Activated FXIII(a) introduces novel covalent crosslinks within and between fibrin and other plasma and cellular proteins, and thereby promotes fibrin biochemical and mechanical integrity.
View Article and Find Full Text PDFExocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation.
Pediatr Nephrol
January 2025
Department of Pediatric Nephrology, Istanbul University- Cerrahpasa, Cerrahpasa Faculty of Medicine, 34098, Istanbul, Turkey.
Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also causes extra-renal manifestations. Pancreatic type NBCe1 is located at the basolateral membrane of the pancreatic ductal cells and together with CFTR chloride channel, it is involved in bicarbonate secretion.
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