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Zhongguo Dang Dai Er Ke Za Zhi
January 2025
Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Patients with Noonan syndrome (NS) are born with normal or slightly lower body length and weight compared to the normal ranges. However, their height gradually falls behind that of the general population, leading to growth retardation and delayed puberty. In China, the incidence of short stature in patients with NS is approximately 65%.
View Article and Find Full Text PDFJ Pediatr Urol
January 2025
Division of Urology, Children's Hospital Los Angeles, Keck School of Medicine of USC, Los Angeles, CA, USA. Electronic address:
Introduction: Hypospadias is a common congenital malformation occurring in up to 80 in 10,00 live male births, with emerging evidence associating exogenous environmental exposures with increased disease incidence. Military personnel are at particularly higher risk for such exposures and indeed, the rate of hypospadias in infant males born to United States military servicewomen deployed during the Gulf War has been reported to be more than 5 times greater compared to undeployed female military personnel.
Objective: To characterize contemporary trends in hypospadias incidence in the general population as well as high risk groups such as males born from US servicewomen using the National Birth Defects Prevention Network.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Faculty of Medicine, Damascus University, Damascus, Syria.
Introduction: Congenital pyloric web or diaphragm are rare causes of Gastric Outlet Obstruction (GOO) after infancy, representing approximately 1 % of gastrointestinal obstructions. While it typically presents in the neonatal period with nonbilious vomiting, delayed diagnosis beyond infancy is exceptionally rare.
Presentation Of The Case: An 11-year-old girl with presented with one-month history of postprandial vomiting.
Stem Cells Transl Med
January 2025
Developmental and Stem Cell Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, ON, Canada M5G 0A4.
Disruption of developmental processes affecting the fetal lung leads to pulmonary hypoplasia. Pulmonary hypoplasia results from several conditions including congenital diaphragmatic hernia (CDH) and oligohydramnios. Both entities have high morbidity and mortality, and no effective therapy that fully restores normal lung development.
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