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http://dx.doi.org/10.1183/13993003.01188-2019 | DOI Listing |
Clin Transl Gastroenterol
December 2024
Department of Pharmacology, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Introduction: Hypoalgesic inflammatory bowel disease (IBD) may provide critical insights into human abdominal pain. This condition was previously associated with homozygosity for a polymorphism (rs6795970, A1073V; 1073 val/val ) related to Na v 1.8, a voltage-gated sodium channel preferentially expressed on nociceptors.
View Article and Find Full Text PDFCerebellum
December 2024
Department of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India.
Spinocerebellar ataxias (SCAs) are a diverse and heterogeneous group of inherited neurodegenerative disorders marked by progressive ataxia and cerebellar degeneration. This case report details an 11-year-old Indian boy with childhood-onset ataxia and severe sensorineural hearing loss, a rarely reported concomitance in pediatric neurology. Genetic analysis identified a unique heterozygous 3' splice site variant in the PNPT1 gene (c.
View Article and Find Full Text PDFFront Cardiovasc Med
December 2024
Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Bicuspid aortic valve (BAV), the most common congenital cardiac anomaly, predisposes individuals to aortic stenosis and regurgitation due to valve degeneration. Abnormal hemodynamics, arterial wall characteristics, and genetic factors contribute to ascending aorta dilatation, potentially leading to severe complications like aortic dissection. Presently, the most recent guidelines propose that individuals with BAV requiring valve replacement due to valve dysfunction should undergo simultaneous replacement of the ascending aorta when the diameter of aortic dilatation exceeds 4.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Diabetes Center, Ohta Nishinouchi Hospital, Koriyama, Fukushima, Japan.
Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder, accompanied by multiple endocrine neoplasms of the parathyroid, pancreas, pituitary, and other neoplasms in the adrenal glands. However, in some cases, patients clinically diagnosed with MEN1 may be genotype-negative.
Case Presentation: A 56-year-old female was diagnosed with MEN1 based on a macroprolactinoma (19 mm in diameter), primary hyperparathyroidism, and a cortisol-producing adrenal adenoma, without a family history.
J Surg Case Rep
January 2025
Division of Vascular Surgery, Department of Surgery, Arrowhead Regional Medical Center, 400 N Pepper Ave, Colton, CA 92324, United States.
Carotid body tumors (CBTs) are rare head and neck paragangliomas that arise from the carotid body chemoreceptor at the common carotid bifurcation. These neoplasms are generally benign, slow-growing, nonsecreting, and well-vascularized. Metastasis occurs in ~5% of cases.
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