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Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.
Orphanet J Rare Dis
January 2025
Department of Pediatrics, Guangdong Provincial People's Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.
Background: Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment.
Methods: A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022.
Immune responses in children with secondary infection of mycoplasma pneumoniae after COVID-19: focus on eosinophils and IgE.
BMC Infect Dis
January 2025
Luoyang Research Center for Inheritance and Innovation of Chinese Historical Civilization, Luoyang Institute of Science and Technology School of Marxism (LIT), No. 90 Wangcheng Avenue, Luolong District, Luoyang City, Henan Province, China.
Background: The COVID-19 (SARS-CoV-2) epidemic has posed a major challenge to global public health, especially in children. Some children may experience secondary infection with Mycoplasma pneumoniae after SARS-CoV-2 infection, which has attracted widespread attention. Studies have shown that eosinophils play an important role in respiratory tract infections and are involved in regulating immune responses and inflammatory processes.
View Article and Find Full Text PDFComprehensive management and oral rehabilitation of amelogenesis imperfecta: a multidisciplinary treatment approach.
BMJ Case Rep
January 2025
Department of Periodontology, King George's Medical University, Lucknow, Uttar Pradesh, India.
Amelogenesis imperfecta (AI) is a genetic disorder that affects both primary and permanent teeth. It primarily manifests as developmental disorders of enamel. The condition occurs independently of other systemic disorders and is caused by mutations in genes responsible for enamel formation, inherited in autosomal dominant, autosomal recessive or X-linked patterns.
View Article and Find Full Text PDFMigraine and ergot use increase plasma pentraxin 3 levels: an Egyptian study.
Neurol Res
January 2025
Neurology Department, Faculty of Medicine, Cairo University, Giza, Cairo, Egypt.
Background: Endothelial dysfunction and inflammation are linked to migraine, which may contribute to atherogenesis and increase the risk of ischemia. In migraineurs, preclinical vascular involvement manifested as compromised structural characteristics of vessel wall has not received enough attention or evaluation.
Objectives: To measure plasma pentraxin 3 as an indicator of endothelial dysfunction in migraine in comparison to controls and to examine its correlation with clinical characteristics, headache severity, and brain magnetic resonance imaging findings.
Novel compound heterozygous CYP17A1 mutations identified in a family with two siblings affected by 17α-hydroxylase/17,20-lyase deficiency.
Steroids
January 2025
Department of Endocrinology, Sir Run Run Hospital, Nanjing Medical University, Nanjing, Jiangsu, China. Electronic address:
Background: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), caused by mutations in the CYP17A1 gene. It typically manifests clinically as variable degree of hypertension, hypokalemia, and disorders of sexual development (DSD), which can include abnormal sexual differentiation in males and sexual infantilism in females. Over 100 mutations in CYP17A1 have been identified, with most cases involving missense mutations or small deletions.
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