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http://dx.doi.org/10.4097/kja.d.19.00006 | DOI Listing |
JCEM Case Rep
February 2025
Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the gene (c.779C > T/p.
View Article and Find Full Text PDFSci Rep
January 2025
Division of Orthopedics and Traumatology, Department of Orthopedics, Guangdong Provincial Key Laboratory of Bone and Cartilage Regenerative Medicine, Nanfang Hospital, Southern Medical University, No. 1838 North of Guangzhou Avenue, Guangzhou, 510515, Guangdong Province, China.
The triglyceride-glucose (TyG) index, a readily accessible surrogate biomarker for insulin resistance and metabolic health, has been extensively investigated across various ethnic populations. The critical role of physical activity (PA) in enhancing insulin sensitivity has been corroborated by numerous studies. Nonetheless, the relationship between different patterns of PA and the TyG index remains ambiguous.
View Article and Find Full Text PDFInt J Radiat Oncol Biol Phys
January 2025
Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, USA.
Purpose: Osteoradionecrosis of the jaw (ORNJ) is a severe iatrogenic disease characterized by bone death after radiation therapy (RT) to the head and neck. With over 9 published definitions and at least 16 classification systems, the true incidence and severity of ORNJ are obscured by lack of a standard for disease definition and severity assessment, leading to inaccurate estimation of incidence, reporting ambiguity, and likely under-diagnosis worldwide. This study aimed to achieve consensus on an explicit definition and phenotype of ORNJ and related precursor states through data standardization to facilitate effective diagnosis, monitoring, and multidisciplinary management of ORNJ.
View Article and Find Full Text PDFIndian J Thorac Cardiovasc Surg
February 2025
Department of Paediatric and Congenital Heart Surgery, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Rao Saheb, Achutrao Patwardhan Marg, Four Bungalows, Andheri West, Mumbai, Maharashtra 400053 India.
Unlabelled: In congenital heart surgery, redo-sternotomies are very common. In most cases, sternal re-entry is achieved without serious complications. However, sometimes elective institution of peripheral cardiopulmonary bypass is needed for safe sternotomy, albeit with a long cardio-pulmonary bypass time.
View Article and Find Full Text PDFPediatr Surg Int
January 2025
Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.
Background: Nissen fundoplication is one of the most common surgical procedures for gastroesophageal reflux. Current and previous research comparing laparoscopic Nissen fundoplication (LNF) versus open Nissen fundoplication (ONF) in children suggest ambiguous conclusions. The purpose of this retrospective study was to compare the outcome for children operated with LNF or ONF at our institution and to evaluate the economic aspects.
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