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Wieacker-Wolff syndrome with hyperinsulinemic hypoglycemia successfully treated using diazoxide: A case report.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, The University of Tokyo, Tokyo, Japan.
Wieacker-Wolff syndrome (WRWF) is an X-linked genetic disorder characterized by neuromusculoskeletal abnormalities caused by loss-of-function variants of the gene. Here, we report the case of a male infant with WRWF manifesting as multiple joint contractures and congenital anomalies at birth. He underwent gastrostomy to treat the gastroesophageal reflux disease, which caused mixed apnea and transient bradycardia.
View Article and Find Full Text PDFChronic cough management: Practical guidelines and PICO-based evidence for screening and investigation.
Asian Pac J Allergy Immunol
December 2024
Department of Clinical Epidemiology and Biostatistics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, T hailand.
Chronic cough is a common clinical condition requiring comprehensive assessment. This review employs a symptom-focused approach, prioritizing the presenting symptom of "chronic cough" to mirror real-world clinical practice. Ten key questions regarding the investigations in the uncertain areas were systematically addressed based on the PICO framework and applying the GRADE system for evidence synthesis to provide the strength of recommendation and quality of evidence for key questions.
View Article and Find Full Text PDFGenetic Links Between Gastrointestinal Disorders and Kidney Stone Disease: Insights from Genome-Wide Cross-Trait Analysis.
Kidney360
January 2025
Department of Urology, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, China.
Background: Epidemiological associations between kidney stone disease (KSD) and gastrointestinal disorders have been reported, and intestinal homeostasis plays a critical role in stone formation. However, the underlying intrinsic link is not adequately understood. This study aims to investigate the genetic associations between these two types of diseases.
View Article and Find Full Text PDFCausal relationships between depression, emotional changes, and hiatal hernia: A Mendelian randomization analysis.
Medicine (Baltimore)
December 2024
The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, China.
Hiatal hernia (HH) is a common gastrointestinal disorder characterized by the displacement of abdominal contents, particularly the stomach, into the thoracic cavity. This condition is frequently associated with gastroesophageal reflux disease (GERD) and can lead to various symptoms, including chronic cough and respiratory issues. Despite its prevalence, the mechanisms linking psychological factors to HH are not well understood.
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