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http://dx.doi.org/10.5114/pg.2024.143046 | DOI Listing |
Forensic Sci Med Pathol
January 2025
LaTIM, Inserm UMR 1101, 22 Avenue Camille-Desmoulins, CS 93837, Brest cedex, 29238, France.
Pneumopericardium (PPC) is defined by the presence of gas in the pericardial cavity, often leading to cardiac tamponade and a high mortality rate. This report describes a case involving a 33-year-old man found deceased a few meters from a knife, his clothes intact, with no resuscitation attempt made. A knotted scarf was tightly fastened around his neck, without ligature mark.
View Article and Find Full Text PDFJA Clin Rep
January 2025
Department of Anesthesiology and Critical Care Medicine, Hokkaido University Hospital, N14W5, Kita-ku, Sapporo, 060-8648, Japan.
Background: Plasma exchange (PE) removes high-molecular-weight substances and is sometimes used for antineutrophil cytoplasmic antibody-associated vasculitis (AAV) with alveolar hemorrhage. Hypotension during PE is rare, except in allergic cases. We report a case of shock likely caused by increased pulmonary vascular resistance (PVR) during PE.
View Article and Find Full Text PDFPediatr 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.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Department of Paediatric Nephrology, Christian Medical College, Vellore, India.
Renovascular hypertension is the second leading cause of hypertension. Twenty-seven genes have been attributed to monogenic renovascular hypertension at present. We present a 15-year-old boy with facial dysmorphism, thick skin and renovascular hypertension with a novel gain-of-function variant in SMAD4 gene suggesting Myhre syndrome.
View Article and Find Full Text PDFInt J Gynecol Pathol
January 2025
Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, California.
Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare, typically benign uterine tumor occurring over a wide age range (mean 52.4 yr). UTROSCTs often harbor translocations between ESR1 and nuclear receptor coactivators NCOA1-NCOA3.
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