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Serum Vitamin D in Children with Hemophilia A and Its Association with Joint Health and Quality of Life.
Hematol Rep
November 2024
Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef 62521, Egypt.
: Hemophilia A is an X-linked recessive illness produced by a deficiency of coagulation factor VIII. This study aimed to evaluate serum vitamin D in hemophilic pediatric patients and its correlation with joint health and quality of life. : This case-control study was performed on ninety children under the age of 18 years old and separated into two groups: study group of 45 children with hemophilia A and control group of 45 healthy children at an outpatient pediatric hematology clinic at the Beni-Suef University hospitals.
View Article and Find Full Text PDFTwo Cases of Menkes Disease With Similar Intracranial Arterial Tortuosity on Brain Magnetic Resonance Imaging.
Cureus
November 2024
Department of Radiology, Kyorin University, Faculty of Medicine, Tokyo, JPN.
Menkes disease is an X-linked recessive genetically inherited metabolic disease caused by an ATP7A gene abnormality that gives rise to impaired copper absorption. Copper deficiency causes symptoms such as characteristic abnormalities in the hair and vascular disorders. Brain MRI findings include a high-signal intensity in the temporal lobe white matter on T2-weighted images and delayed myelination.
View Article and Find Full Text PDFGlycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Orphanet J Rare Dis
December 2024
Assistant Professor of Cellular and Molecular Medicine, Shiraz Transplant Research Center, Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz, Iran.
Glycogen storage disorders (GSD) GSD-IX are characterized by deficiencies in muscular and/or hepatic phosphorylase enzymes. GSD type IX za is an X-linked disorder, while IXb and IXc are autosomal recessive disorders resulting from pathogenic variants in the genes encoding the Phosphorylase b Kinase regulatory subunit alpha (PHKA), beta (PHKB), and gamma (PHKG), respectively. Despite progress in understanding these diseases, there are still unclear questions regarding their clinical manifestations, genetic variations, and the relationship between genotype and phenotype.
View Article and Find Full Text PDFA rare homozygous variant causes adult-onset diabetes.
BMJ Open Diabetes Res Care
December 2024
Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.
Introduction: Maturity-onset diabetes of the young (MODY) and neonatal diabetes mellitus (NDM) are the most prevalent causes of monogenic diabetes. MODY is an autosomal dominant condition with onset in childhood and young adulthood, while NDM is defined with diabetes onset within 6 months of age and can be caused by dominant, recessive, X-linked genes or by chromosomal abnormalities. Here, we describe a rare case of monogenic diabetes in a patient who is homozygous for an gene variant.
View Article and Find Full Text PDFTreatment of giant fecalith colonic obstruction in a patient with Duchenne muscular dystrophy using endoscopic injection of hydrogen peroxide: a case report and literature review.
Front Med (Lausanne)
December 2024
Department of Hepatobiliary Surgery, First People's Hospital of Xiaoshan District, Hangzhou, Zhejiang, China.
Introduction: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder primarily affecting cardiac and skeletal muscles, with gastrointestinal obstruction being an infrequent complication.
Case Report: We present a 17-year-old boy with DMD (G-to-T transversion at c.4150 in the gene encoding dystrophin protein) who developed severe colonic obstruction due to fecal impaction.
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