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The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China.
Ann Med
December 2025
Department of Neurology, Peking University First Hospital, China.
Objective: Whereas a few studies have evaluated vestibular involvement in Fabry disease (FD), the relationship between vestibular/oculomotor abnormalities and disease-specific biomarkers remain unclear. Therefore, we seek to evaluate these quantitatively and analyze their relationship with disease phenotype and biomarkers in FD.
Methods: This cohort study enrolled 37 Chinese FD patients registered in our center.
Acute lymphoblastic leukemia (ALL) is a malignant condition of lymphoid progenitor cells that primarily affects the pediatric population, but also adults. The 5-year survival rate is 90% in children and approximately 40% in adults, with survival increasing through the use of peripheral stem cell allotransplantation (SCT). The relapse rate after stem cell transplantation (SCT) in adult acute lymphoblastic leukemia (ALL) patients ranges from 35% to 45%, making relapse a major cause of death in this population.
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 PDFHigh clinical burden of classical homocystinuria in the United States: a retrospective analysis.
Orphanet J Rare Dis
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Travere Therapeutics, Inc., San Diego, CA, USA.
Background: Classical homocystinuria (HCU) is a rare genetic metabolic disorder resulting in elevated homocysteine and methionine levels. The clinical characteristics and associated complications of HCU are well documented. However, there is limited published research on the clinical burden of patients with HCU, especially stratified by total homocysteine (tHcy) levels.
View Article and Find Full Text PDFSystematic dissection of pleiotropic loci and critical regulons in excitatory neurons and microglia relevant to neuropsychiatric and ocular diseases.
Transl Psychiatry
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Oujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Advancements in single-cell multimodal techniques have greatly enhanced our understanding of disease-relevant loci identified through genome-wide association studies (GWASs). To investigate the biological connections between the eye and brain, we integrated bulk and single-cell multiomic profiles with GWAS summary statistics for eight neuropsychiatric and five ocular diseases. Our analysis uncovered five latent factors explaining 61.
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