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| http://dx.doi.org/10.1136/bcr-2022-253799 | DOI Listing |
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Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case.
Clin Dysmorphol
December 2024
Department of Pediatric Genetics.
Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.
View Article and Find Full Text PDFInsights into pituitary stalk interruption syndrome: 2 cases that illuminate the condition.
Radiol Case Rep
March 2025
Pediatric Radiology Department, Children's Hospital, University Mohammed V of Rabat, Rabat, Morocco.
Pituitary stalk interruption syndrome (PSIS) is a congenital anatomical defect that leads to pituitary insufficiency, The symptoms are diverse, often leading to diagnostic delays or even misdiagnosis. MRI plays a crucial role in establishing an accurate diagnosis by revealing a characteristic radiological triad: a thin or absent pituitary stalk, an ectopic or missing posterior pituitary gland, and anterior pituitary hypoplasia. We herein describe 2 cases: 1 involving a 9-year-old boy and the other an 11-year-old girl, both diagnosed with PSIS.
View Article and Find Full Text PDFPAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.
Epilepsia Open
January 2025
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Protein-activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21-activated kinases (PAKs) family of Ras-signaling serine/threonine kinases. Pathogenic variants in the X-linked gene PAK3 have been described in patients with neurodevelopmental syndromes.
View Article and Find Full Text PDFShort-acting growth hormone supplementation for bone age and growth rate in children with idiopathic short stature: a meta-analysis.
BMC Pediatr
January 2025
Department of Child Health, West China Second University Hospital, Sichuan University, No.20, Section 3, Renmin South Road, Wuhou District, Chengdu City, 610041, Sichuan Province, China.
Objective: To explore the effect of short-acting growth hormone (GH) supplementation on bone age and growth rate of children with idiopathic short stature.
Methods: The authoritative databases such as PubMed, Medline, and Web of Science were extensively searched through the systematic and comprehensive literature retrieval strategy to compile the clinical research data on the treatment of idiopathic short stature with short-acting GH. The study will be strictly screened to ensure that all enrolled research subjects are patients with idiopathic short stature, and the intervention method is defined as short-acting GH replacement therapy, and a reasonable control group is set, such as placebo treatment, to ensure the scientificity and comparability of research results.
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