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Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.
BMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
View Article and Find Full Text PDFEfficacy and Safety of Proactive Therapy with 2% Crisaborole Ointment in Children with Mild-to-Moderate Atopic Dermatitis: A Randomized Controlled Study.
Paediatr Drugs
January 2025
Department of Dermatology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The effectiveness of crisaborole for proactive treatment of atopic dermatitis (AD) is not well established.
Objectives: This study aims to investigate the efficacy and safety of a proactive treatment strategy with 2% crisaborole ointment for managing mild-to-moderate AD in children.
Patients And Methods: In this 16-week randomized-controlled trial, children aged 2-17 years with mild-to-moderate AD were enrolled.
Transdiagnostic Predictors of Health-Related Quality of Life in Children with Autism and Epilepsy: A Cross-Sectional Study.
J Clin Med
January 2025
Owerko Centre at the Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.
: Our understanding of the transdiagnostic factors that influence health-related quality of life (HRQOL) in individuals with neurodivergent conditions is very sparse and highly siloed by diagnosis labels. Research on transdiagnostic predictors of HRQOL across neurodevelopmental conditions is needed to enable care models that address shared needs of neurodivergent individuals beyond diagnostic boundaries. Our objective was to identify transdiagnostic factors associated with HRQOL in children with autism, epilepsy, or comorbid autism/epilepsy.
View Article and Find Full Text PDFDisco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.
Mov Disord
January 2025
British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.
Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.
Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
Eur J Pediatr
January 2025
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Unlabelled: Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files.
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