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Case report: Kabuki syndrome and persistent hypoglycemia in neonates.
J Family Med Prim Care
December 2024
Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively. It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anomalies, genitourinary anomalies, and mild to moderate intellectual disability). This syndrome can lead to neonatal hypoglycemia that results from hyperinsulinemia and electrolyte abnormalities.
View Article and Find Full Text PDFDistribution of extrapulmonary tuberculosis in CBNAAT samples received in a tertiary care hospital - A record-based study.
J Family Med Prim Care
December 2024
Department of Microbiology, College of Medicine and Sagore Dutta Hospital, Kolkata, West Bengal, India.
Background: Pulmonary tuberculosis (PTB) accounts for 85% of all reported tuberculosis cases globally. Extrapulmonary involvement can occur in isolation or along with a pulmonary focus as in the case of patients with disseminated tuberculosis (TB). EPTB can occur through hematogenous, lymphatic, or localized bacillary dissemination from a primary source, such as PTB and affects the brain, eye, mouth, tongue, lymph nodes of neck, spine, bones, muscles, skin, pleura, pericardium, gastrointestinal, peritoneum and the genitourinary system as primary and/or disseminated disease.
View Article and Find Full Text PDFDiscitis: A Rare Presentation and Review of Literature.
HCA Healthc J Med
December 2024
University of Florida College of Medicine, Gainesville, FL.
Background: is an anaerobic gram-negative coccus found as a commensal organism in the oral, respiratory, gastrointestinal, and genitourinary tract of humans. Rarely, it can cause serious infections by the production of lipopolysaccharide, an endotoxin. Although most infections occur in immunocompromised individuals, we herein describe cases of discitis, a rare presentation of , in immunocompetent patients.
View Article and Find Full Text PDFFollicular fluid and plasma lipidome profiling and associations towards embryonic development outcomes during ART treatment.
Front Endocrinol (Lausanne)
January 2025
Woolcock Institute for Medical Research, University of Technology, Sydney, NSW, Australia.
Introduction: It is well acknowledged that lipids assume a critical role in oocyte maturation and early embryonic metabolism, this study aimed to evaluate the relationship between the lipid composition of plasma and follicular fluid (FF), and the consequences of embryonic development. This study compared the lipidomic profiles of paired plasma and FF samples obtained from sixty-five Chinese women who underwent assisted reproductive technology (ART) treatments.
Methods: Non-targeted lipidomics analysis.
The Autologous Fascial Pubovaginal Sling for Recurrent Stress Incontinence: A Retrospective Study.
Low Urin Tract Symptoms
January 2025
Department of Urology, Institute of Urology (Laboratory of Reconstructive Urology), West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China.
Aim: This study aimed to analyze the clinical efficacy and safety of autologous fascial pubovaginal sling (AFPVS) surgery in treating recurrent stress urinary incontinence (SUI) following the failure of mid-urethral sling procedures.
Methods: A retrospective analysis was conducted on the clinical data of SUI patients who underwent AFPVS at our hospital between 2008 June and 2024 June following the failure of mid-urethral sling procedures. The analysis included basic information, surgical parameters, and postoperative complications.
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