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Using Multiple Anthropomorphic Measures to Estimate Height in Muscular Dystrophies and Its Impact on Lung Function.
Pediatr Pulmonol
January 2025
Texas Children's Hospital, Houston, Texas, USA.
Background: An accurate height estimate is important for assessing pulmonary function, and body mass index. If a patient cannot stand, an accurate standing height cannot be directly measured. Knee-heel length, arm span, ulnar length, and tibial length have been studied in otherwise healthy populations as single measurements for height estimation.
View Article and Find Full Text PDFHardy-Rand-Rittler colour vision testing in cone and cone-rod dystrophies: correlation with structural and functional outcome measures.
Eye (Lond)
January 2025
Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Purpose: To determine how Hardy-Rand-Rittler (HRR) colour vision testing correlates with visual functional and structural assessments in Cone and Cone-Rod Dystrophy.
Methods: Thirty-four Cone and 69 Cone-Rod Dystrophy patients diagnosed by electroretinography (ERG) at the Save Sight Institute in Sydney were included in a retrospective analysis. Each patient's HRR colour vision test scores were compared with markers of cone and rod system function including visual acuity (VA), ERG responses, changes on Spectral Domain Optical Coherence Tomography (OCT) and Fundus Autofluorescence.
Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study.
Ophthalmol Sci
November 2024
Faculty of Medicine, Dentistry and Health Sciences, Department of Optometry and Vision Sciences, University of Melbourne, Parkville, Australia.
Purpose: Emerging clinical trials for inherited retinal disease (IRD) require an understanding of long-term progression. This longitudinal study investigated the genetic diagnosis and change in retinal structure and function over 10 years in rod-cone dystrophies (RCDs).
Design: Longitudinal observational follow-up study.
Demographic Profile and Clinical Characteristics of Fuchs Endothelial Corneal Dystrophy in Thai Patients: A Retrospective Cohort in a Tertiary Referral Center.
Clin Ophthalmol
January 2025
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University Bangkok, Bangkok, Thailand.
Purpose: To describe the demographic profile, clinical characteristics, and treatment trends of Fuchs endothelial corneal dystrophy (FECD) in Thai patients, reflecting the evolving landscape of corneal transplantation in this region.
Patients And Methods: This retrospective cohort study included 900 patients (1,743 eyes) diagnosed with FECD at a tertiary referral center in Thailand between January 2017 and June 2023. Demographic, clinical, and surgical data were analyzed, focusing on best-corrected visual acuity (BCVA), central corneal thickness (CCT), endothelial cell density (ECD), surgical interventions, and graft survival rate.
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