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Orphanet J Rare Dis
January 2025
Department of Pediatric Gastroenterology and Nutrition, Amsterdam UMC, Emma Children's Hospital, Vrije Universiteit, Amsterdam, The Netherlands.
Background: Achalasia is a rare esophageal motility disorder with an estimated annual incidence of 1-5/100.000 and a mean age at diagnosis > 50 years of age. Only a fraction of the patients has an onset during childhood (estimated incidence of 0.
View Article and Find Full Text PDFJ 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 PDFPituitary
January 2025
Department of Neurosurgery, Mayo Clinic, Jacksonville, FL, USA.
Purpose: Pituitary adenomas, despite their histologically benign nature, can severely impact patients' quality of life due to hormone hypersecretion. Invasion of the medial wall of the cavernous sinus (MWCS) by these tumors complicates surgical outcomes, lowering biochemical remission rates and increasing recurrence. This study aims to share our institutional experience with the selective resection of the MWCS in endoscopic pituitary surgery.
View Article and Find Full Text PDFMod Pathol
January 2025
Department of Pathology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. Electronic address:
Oxyntic gland neoplasms typically arise in Helicobacter pylori-naïve stomachs and are composed predominantly of chief cells, with a smaller component of parietal cells. The pathologic diagnosis can be challenging due to minimal cellular atypia. Especially in biopsy specimens with limited tumor volume or when pathologists have limited experience in diagnosing this neoplasm, distinguishing it from normal oxyntic glands can be difficult, and no reliable diagnostic markers are currently available.
View Article and Find Full Text PDFJ Clin Med
January 2025
Department of Surgery IV, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 38 Gheorghe Marinescu Street, 540139 Targu Mures, Romania.
: Totally endoscopic techniques have become increasingly popular in cardiac surgery, with minimally invasive mitral valve repair emerging as an effective alternative to median sternotomy. This approach could be particularly advantageous for patients with Noonan syndrome, who often present with structural thoracic anomalies and other comorbidities like bleeding disorders. Endoscopic mitral valve surgery is rapidly establishing itself as the new standard of care for mitral valve operations, demonstrating both safety and efficacy.
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