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http://dx.doi.org/10.33963/v.kp.98421 | DOI Listing |
Arq Bras Cir Dig
January 2025
Santa Casa de Misericórdia de Porto Alegre - Porto Alegre (RS), Brazil.
Background: Cholangiocarcinoma (CCA) is a rare neoplasm, with high mortality, originating in the bile ducts. Its incidence is higher in Eastern countries due to the endemic prevalence of liver parasites. Factors such as metabolic syndrome, smoking, and pro-inflammatory conditions are also linked to the disease.
View Article and Find Full Text PDFSci Transl Med
January 2025
Hypothalamic Research Center, Department of Internal Medicine, UT Southwestern Medical Center, Dallas TX, 75390, USA.
Disruption of hypothalamic melanocortin 4 receptors (MC4Rs) causes obesity in mice and humans. Here, we investigated the transcriptional regulation of in the hypothalamus. In mice, we show that the homeodomain transcription factor Orthopedia (OTP) is enriched in MC4R neurons in the paraventricular nucleus (PVN) of the hypothalamus and directly regulates transcription.
View Article and Find Full Text PDFPLoS Pathog
January 2025
Department of Pathology, Johns Hopkins University, Baltimore, Maryland, United States of America.
Typical epidermodysplasia verruciformis (EV) is a rare, autosomal recessive disorder characterized by an unusual susceptibility to infection with specific skin-trophic types of human papillomavirus, principally betapapillomaviruses, and a propensity for developing malignant skin tumors in sun exposed regions. Its etiology reflects biallelic loss-of-function mutations in TMC6 (EVER1), TMC8 (EVER2) or CIB1. A TMC6-TMC8-CIB1 protein complex in the endoplasmic reticulum is hypothesized to be a restriction factor in keratinocytes for βHPV infection.
View Article and Find Full Text PDFEmerg Radiol
January 2025
Department of Radiology and Radiological Science, School of Medicine, Johns Hopkins University, 601 North Caroline Street, Baltimore, MD, 21287-0801, USA.
Upper tract urothelial carcinoma (UTUC) is a rare and challenging subset of the more frequently encountered urothelial carcinomas (UCs), comprising roughly 5-7% of all UCs and less than 10% of all renal tumors. Hematuria is a common presenting symptom in the emergency setting, often prompting imaging to rule out serious etiologies, with UTUC especially posing as a diagnostic challenge. These UTUC lesions of the kidney and ureter are often small, mimicking other pathologies, and are more aggressive than typical UC of the bladder, emphasizing the importance of timely and accurate diagnosis.
View Article and Find Full Text PDFJ Neurol
January 2025
Department of Neurology and Neurosciences, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain.
Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been associated with both hypertrophic and dilated cardiomyopathy and, more recently, with skeletal myopathy.
Methods: Genetic, clinical, and muscle imaging data were collected from 37 patients with an autosomal dominant ACTN2 myopathy belonging to 11 families from Spain and Belgium.
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