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Comparative analysis of gut microbiota in metabolic syndrome and obese children from Southeastern China.
Front Microbiol
December 2024
Department of Pediatrics, Ningde Municipal Hospital of Ningde Normal University, Ningde, China.
The prevalence of childhood obesity is rising globally, with some obese children progressing to develop metabolic syndrome (MS). However, the specific differences between these groups remain unclear. To investigate the differences in gut microbiota, we conducted physiological and biochemical assessments, alongside 16S rRNA sequencing, in a cohort of 32 children from Southeastern China, which included 4 normal-weight children, 5 with mild obesity, 9 with moderate obesity, 9 with severe obesity, and 5 with metabolic syndrome.
View Article and Find Full Text PDFCase Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the gene.
Front Genet
December 2024
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Background: Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population.
View Article and Find Full Text PDFPortal Hypertension Unmasked-Cavernous Transformation of the Portal Vein Following Portal Vein Thrombosis in a 9-Year-Old Female: A Case Report.
Clin Case Rep
January 2025
Teaching Assistant at General Surgery Department Alzaiem Alazhari Unversity Khartoum Sudan.
This case demonstrates the complex dynamics of cavernous transformation of the portal vein and portal vein thrombus due to umbilical cord infection in a child and its consequences, namely portal hypertension. This abnormal process has to be understood for proper treatment and stresses the importance of a thorough assessment of such patients.
View Article and Find Full Text PDFBackground: Alport syndrome (AS) is a multifaceted condition that primarily affects the basement membranes of the kidneys, ears, and eyes. AS is considered the second most common cause of hereditary renal failure, exhibiting varied clinical manifestations across different lifespans. The aim of this study is to investigate the clinical features and genetic profile of AS and to elucidate the genotype-phenotype correlation of AS.
View Article and Find Full Text PDFAn overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic.
Front Pediatr
December 2024
Paediatrics and Paediatric Respirology, National Heart and Lung Institute, Faculty of Medicine, Imperial College London, London, United Kingdom.
Ataxia-telangiectasia (A-T) is an ultrarare autosomal recessive disorder and occurs in all racial and ethnic backgrounds. Clinically, children and young people with A-T are affected by sinopulmonary infections, neurological deterioration with concomitant bulbar dysfunction, increased sensitivity to ionizing radiation, immunodeficiency, a decline in lung function, chronic liver disease, endocrine abnormalities, cutaneous and deep-organ granulomatosis, and early death. Pulmonary complications become more frequent in the second decade of life and are a leading cause of death in individuals with A-T.
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