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Endocrine alterations in patients with pachydermoperiostosis.
J Clin Endocrinol Metab
January 2025
Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Context: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHO) usually due to biallelic loss-of-function variants in HPGD and SLCO2A1, has some features overlapping with acromegaly and often referred to endocrinologists. A detailed endocrine assessment is not available for these patients.
Objective: To assess the genetic and endocrine characteristics of PHO patients referred to endocrine centres with a possible diagnosis of acromegaly.
Insulin resistant diabetes mellitus in a girl with mild Rabson-Mendenhall syndrome: efficacy of sodium glucose co-transporter 2 inhibitor.
Diabetol Int
January 2025
Department of Pediatrics, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192 Japan.
We report a beneficial effect of a sodium glucose co-transporter 2 (SGLT2) inhibitor in the management of insulin resistant diabetes mellitus (IRDM) in a Japanese girl with mild Rabson-Mendenhall syndrome (RMS). At 10 2/12 years of age, she was referred to us because of glucosuria, and was found to have marked acanthosis nigricans and RMS-like facial features such as proptosis, large ears, full lips, and gingival hypertrophy, but not other clinical features frequently found in RMS. At 11 9/12 years of age, her blood HbA1c level, though it remained ~ 6.
View Article and Find Full Text PDFThe Subtle Signs of Scurvy: A Paediatric Case Misleading Clinicians.
Cureus
November 2024
General Paediatrics, Worcestershire Acute Hospitals NHS Trust, Worcestershire, GBR.
Scurvy, arising from vitamin C deficiency, remains relevant despite historical declines. Scurvy commonly presents with severe leg pain, reluctance to walk, and limping. Other symptoms include gingival bleeding, hypertrophy, and ecchymoses.
View Article and Find Full Text PDFSuccessful Management of an Emerging Distinct Gingival Lesion With a New Histopathological Identity.
Cureus
October 2024
Oral and Maxillofacial Surgery, College of Dentistry, Qassim University, Buraydah, SAU.
Gingival fibroma is a pathological condition that can manifest in pediatric and adult patients, often presenting diagnostic challenges due to shared histopathological characteristics among various lesions. It has been reported as a novel category with distinct histopathological features with new diagnostic criteria. A 40-year-old Saudi female patient with no significant medical history reported a 4×3 cm pedunculated, non-tender, firm, red gingival growth adjacent to the remaining root of tooth number 27 in the maxillary left side.
View Article and Find Full Text PDFMultiple endocrine neoplasia type 2B (MEN2B) diagnosis: a case report.
AME Case Rep
September 2024
Department of Pediatrics, São José do Rio Preto School of Medicine [Fundação Faculdade Regional de Medicina (FUNFARME)], São José do Rio Preto, São Paulo, Brazil.
Article Synopsis
- - MEN2B is a genetic syndrome that leads to multiple health issues, including thyroid cancer, adrenal tumors, and distinctive physical traits like marfanoid habits and mucosal neuromas.
- - A 10-year-old boy had several health problems, including constipation, tongue lesions, slow growth, and neurological symptoms, prompting comprehensive medical assessments that eventually confirmed he had MEN2B.
- - The diagnosis of MEN2B typically requires the presence of medullary thyroid cancer, and additional mutations are common, highlighting the need for ongoing monitoring and genetic testing in affected individuals.
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