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Congenital Hypogonadotropic Hypogonadism With Novel Pathogenic Variants in FGFR1 and GNRHR.
JCEM Case Rep
January 2025
Department of Endocrinology and Metabolism, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
Congenital hypogonadotropic hypogonadism (CHH) can cause delayed secondary sexual characteristics and contribute to juvenile osteoporosis, with multiple causative genes having been reported. We treated a 27-year-old man diagnosed with central hypogonadism, presenting with delayed secondary sexual characteristics and juvenile osteoporosis, using bone resorption inhibitors and testosterone therapy. Genetic testing revealed missense variants both in the fibroblast growth factor receptor 1 () and gonadotropin-releasing hormone receptor () genes, a combination that has not been previously reported.
View Article and Find Full Text PDFComprehensive in silico analysis of single nucleotide polymorphism and molecular dynamics simulation of human GATA6 protein in ventricular septal defect.
Narra J
December 2024
Division of Pediatric Cardiology, Department of Pediatric, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
Congenital heart disease (CHD) represents nearly one-third of congenital birth defects annually, with ventricular septal defect (VSD) being the most common type. The aim of this study was to explore the role of specific GATA binding protein 6 gene () mutations as a potential etiological factor in the development of VSD through an in silico approach. Data were collected from the human gene databases: DisGeNET and GeneCards, with protein-protein interaction networks constructed via STRING and Cytoscape.
View Article and Find Full Text PDFCongenital urethral diverticulum with a large stone in a 16-year-old male: a case report.
BMC Urol
January 2025
Department of Urology, Hama National Hospital, Hama, Syria.
Background: Urethral diverticulum is a sac-like dilation that extends from the urethral lumen and is connected to it. It can either be congenital or acquired, with the latter being more common. The development of calculi is rare in such patients.
View Article and Find Full Text PDFNewborn With Refractory Seizures Due To Hemimegalencephaly And Tuberous Sclerosis Complex: Case Report and Literature Review.
Neuropediatrics
January 2025
Neonatology, Leiden University, Leiden, Netherlands.
Background Hemimegalencephaly (HME) is a rare congenital disorder that is initiated during embryonic development with abnormal growth of one hemisphere. Tuberous sclerosis complex (TSC), a genetic disorder, is rarely associated with HME. Methods We present a case of a newborn with HME with a confirmed mutation in the TSC-1 gene and describe the clinical course, findings on (amplitude integrated) electroencephalography (aEEG), cranial ultrasound (CUS), MRI, and the postmortem evaluation.
View Article and Find Full Text PDFPatterns of Co-Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital-Based Surveillance Study.
Birth Defects Res
January 2025
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: The landscape of co-occurring birth defects among infants with congenital diaphragmatic hernia (CDH) remains underexplored.
Aims: This study aims to elucidate the complex patterns of co-occurring defects in Chinese population.
Materials And Methods: We analyzed cases from the Chinese Birth Defects Monitoring Network (2007-2019) with CDH that presented along with at least one additional defect but without a syndromic diagnosis.
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