GNAS mutations should be considered in patients with obesity, ectopic ossifications, and thyroid-stimulating hormone resistance presented in early infancy.
Diagnosis and Approach of Pseudohypoparathyroidism Type 1A and Related Disorders During Long Term Follow-Up: a Case Report
Source : https://www.degruyter.com/document/doi/10.1515/jpem-2023-0454/html
Objectives Pseudohypoparathyroidism type 1A (PHP1A) encompasses the association of resistance to multiple hormones, features of Albright hereditary osteodystrophy and decreased Gsα activity. Little is known about the early signs of...
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Orthopedic Manifestations in Children With Prader-Willi Syndrome
Source : https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-024-04603-7
Prader-Willi syndrome (PWS) is a rare genetic disease often associated with bone problems, mainly scoliosis and hip dysplasia (HD). This study aimed to analyze the clinical characteristics of orthopedic deformities...
The median age of scoliosis was 4.5 years, and the prevalence of scoliosis increased rapidly at the age of 5 years and adolescence.
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A traditional Atlantic dietary intervention significantly reduced the incidence of metabolic syndrome. There was no statistically significant difference in the reduction in dietary carbon footprint emissions in the intervention group compared with the control group.
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Cognitive function, inflammatory biomarkers, comorbidities, physical activity, and depressive symptoms were still improved 2 years after bariatric surgery.
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Chronic Kidney Disease on the Background of Bardet-Biedl Syndrome: a Case Report and Review of Literature
An 18-year-old male presented to the emergency department with chief complaints of fever, cough, vomiting, and decreased urine output for 7 days. Parents complained that the child had a delay...
The management of chronic kidney disease in the background of Bardet-Biedl syndrome poses unique challenges due to the complex multisystem involvement of this genetic disorder.
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