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Visual and Orthoptic Development After DSAEK for CHED in Children Younger than 8 years: Case Series and Literature Review.
Cornea
January 2025
Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; and.
Purpose: Congenital hereditary endothelial dystrophy (CHED) impairs the sensitive phase of visual development. We examined results of Descemet stripping automated endothelial keratoplasty (DSAEK) for CHED regarding the critical period for amblyogenic factors.
Methods: Retrospective analysis of 11 eyes of 6 consecutive patients with CHED younger than 8 years treated with DSAEK and a PubMed-based literature search on management and optimal timing of the intervention.
Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity.
Clin Cosmet Investig Dermatol
January 2025
Lugansk state medical University, Department of Pathology, Rivne, Ukraine.
Introduction: Marie-Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by a specific pattern of hair loss. Initially described in 1925 by Marie-Unna in a German family spanning over seven generations, MUHH represents a previously unidentified form of congenital hypotrichosis. It typically presents as sparse hair at birth with a coarse texture, followed by regrowth during childhood then, finally, gradual hair loss at puberty, resembling pattern of androgenetic alopecia.
View Article and Find Full Text PDFCopy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study.
Stroke
January 2025
Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany (M.F., S.B., S.M., K.W., M.E., A.M., U.D., C.S.).
Background: Contrary to the common belief, the most commonly used laboratory C57BL/6J mouse inbred strain presents a distinctive genetic and phenotypic variability, and for several traits, the genotype-phenotype link remains still unknown. Recently, we characterized the most important stroke survival factor such as brain collateral plasticity in 2 brain ischemia C57BL/6J mouse models (bilateral common carotid artery stenosis and middle cerebral artery occlusion) and observed a Mendelian-like fashion of inheritance of the posterior communicating artery (PcomA) patency. Interestingly, a copy number variant (CNV) spanning locus was reported to segregate in an analogous Mendelian-like pattern in the C57BL/6J colonies of the Jackson Laboratory.
View Article and Find Full Text PDFGenotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.
Genes (Basel)
January 2025
Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.
Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.
View Article and Find Full Text PDFAssessment of Developmental Prosopagnosia in an Individual with Tourette Syndrome and Attention Deficit Hyperactivity Disorder: A Case Report.
Brain Sci
January 2025
Department of Neurohabilitation, Oslo University Hospital, 0424 Oslo, Norway.
Background/objectives: Prosopagnosia is the inability to recognize people by their faces. Developmental prosopagnosia is the hereditary or congenital variant of the condition. The aim of this study was to demonstrate the assessment of developmental prosopagnosia in a clinical context, using a combination of commercially available clinical assessment tools and experimental tools described in the research literature.
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