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Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report.
J Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDFTemporary ectopic banking as a treatment option for mangled thumb: a case report.
J Med Case Rep
January 2025
Bone and Joint Diseases Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Background: Management of the extensive soft tissue injuries remains a significant challenge in orthopedic and plastic reconstructive surgery. Since the thumb is responsible for 40% of the functions of the hand, saving and reconstructing a mangled thumb is essential for the patient's future.
Case Presentation: This case report describes the management of a severe occupational thumb injury in a 25-year-old white Persian male who sustained an occupational injury to his left thumb, resulting in extensive burn, crush injury to the distal and proximal phalanx, and severe soft tissue damage to the first metacarpal, thenar, and palmar areas.
Semaglutide and laparoscopic sleeve gastrectomy in an adolescent with congenital adrenal hyperplasia due to 21-hydroxylase: a case report.
J Med Case Rep
January 2025
Department of Surgery, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, USA.
Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management.
View Article and Find Full Text PDFMitochondrial Dysfunction in HFpEF: Potential Interventions Through Exercise.
J Cardiovasc Transl Res
January 2025
Cardiac Regeneration and Ageing Lab, Institute of Geriatrics (Shanghai University), Affiliated Nantong Hospital of Shanghai University (The Sixth People's Hospital of Nantong), School of Medicine, Shanghai University, Nantong, 226011, China.
HFpEF is a prevalent and complex type of heart failure. The concurrent presence of conditions such as obesity, hypertension, hyperglycemia, and hyperlipidemia significantly increase the risk of developing HFpEF. Mitochondria, often referred to as the powerhouses of the cell, are crucial in maintaining cellular functions, including ATP production, intracellular Ca regulation, reactive oxygen species generation and clearance, and the regulation of apoptosis.
View Article and Find Full Text PDFA historical perspective on the multifunctional outer membrane channel protein TolC in Escherichia coli.
NPJ Antimicrob Resist
January 2025
College of Biological Sciences, Department of Molecular and Cellular Biology, University of Guelph, 50 Stone Rd E, Guelph, ON, Canada.
Since its discovery nearly 60 years ago, TolC has been associated with various cellular functions in Escherichia coli, including the efflux of environmental stressors and virulence factors. It also acts as a receptor for specific bacteriophages and the colicin E1 toxin. This review highlights key discoveries over the past six decades and emphasizes the remaining gaps in understanding how TolC contributes to physiological functions in E.
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