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Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.
Genet Med
December 2024
Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.
Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.
Evaluation of Photoaging and Sun Protection Behavior in Children With Xeroderma Pigmentosum, Group C: A Prospective Analysis.
Pediatr Dermatol
December 2024
Department of Dermatology and Venereology and Ophthalmology, All India Institute of Medical Sciences, New Delhi, India.
Thirteen children with xeroderma pigmentosum variant C were evaluated using the Dermoscopic Photoaging Assessment Scale (DPAS), the Glogau scale, and the Sun Protection Behavior Scale (SPBS). Most patients exhibited signs of epidermal photoaging, with pigmentary and vascular changes and poor sun protection behavior (mean SPBS score: 18.92 ± 5.
View Article and Find Full Text PDFThe Chronic Headache Self-Efficacy Scale: Development and assessment of measurement properties.
Headache
December 2024
Department of Physical Therapy, University of Florida, Gainesville, Florida, USA.
Objective: To develop and assess the psychometrics of the Chronic Headache Self-Efficacy Scale (CHASE).
Background: Existing scales assess self-efficacy in coping strategies and management of symptoms and triggers but do not measure other important self-efficacy domains, such as performing daily activities and socializing in patients with chronic daily headache (CDH).
Methods: The study had two phases: (i) Development of the 14-item CHASE, with items derived from patients with CDH and a multidisciplinary healthcare team; (ii) longitudinal observational study for psychometric evaluation.
Evaluation of the hematological parameters, inflammatory biomarkers, and thyroid hormones in hypothyroidism patients.
BMC Res Notes
December 2024
Department of Immunology, Faculty of Medicine, Kazerun Branch, Islamic Azad University, Kazerun, Iran.
Aim: Hypothyroidism is created by disruption of thyroid hormone production, which can destroy the emotional, relational, social, and working life of patients if left untreated. Hypothyroidism has multiple etiologies. We evaluated the relationship of hematological parameters and inflammatory biomarkers with thyroid hormones to find the potential use of these items in patients screening and prognosis.
View Article and Find Full Text PDFAssociation between fundamental movement skills and accelerometer-measured physical activity in orphan children with severe intellectual disabilities.
BMC Pediatr
December 2024
School of Physical Education, Shanghai University of Sport, 399 Changhai Road, Shanghai, 200438, P. R. China.
Background: Children with intellectual disabilities (ID) typically exhibit low levels of physical activity (PA) and delayed motor skills. Understanding the motor skill factors that influence PA participation in this population is essential for designing effective interventions. The purpose of this study was to examine the association between fundamental motor skills (FMS) and objectively measured PA among orphan children with severe ID residing in welfare institutions.
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