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Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).
Pediatr Rheumatol Online J
January 2025
Laboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Background: Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.
Case And Methods: A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS.
Real sounds influence postural stability in people with vestibular loss but not in healthy controls.
PLoS One
January 2025
Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.
Objective: What we hear may influence postural control, particularly in people with vestibular hypofunction. Would hearing a moving subway destabilize people similarly to seeing the train move? We investigated how people with unilateral vestibular hypofunction and healthy controls incorporated broadband and real-recorded sounds with visual load for balance in an immersive contextual scene.
Design: Participants stood on foam placed on a force-platform, wore the HTC Vive headset, and observed an immersive subway environment.
Lateral olivocochlear neurons modulate cochlear responses to noise exposure.
Proc Natl Acad Sci U S A
January 2025
Department of Neurobiology, Harvard Medical School, Boston, MA 02115.
The sense of hearing originates in the cochlea, which detects sounds across dynamic sensory environments. Like other peripheral organs, the cochlea is subjected to environmental insults, including loud, damage-inducing sounds. In response to internal and external stimuli, the central nervous system directly modulates cochlear function through olivocochlear neurons (OCNs), which are located in the brainstem and innervate the cochlear sensory epithelium.
View Article and Find Full Text PDFA novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.
Hum Mol Genet
January 2025
Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University, No. 83 Fenyang Road, Xuhui District, Shanghai 200031, China.
Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by congenital sensorineural hearing loss, blue iris, and abnormal pigmentation of the hair and skin. WS2 is genetically heterogeneous, often resulting from pathogenic mutations in SOX10 gene. We identified a novel heterozygous frameshift mutation in SOX10 (NM_006941.
View Article and Find Full Text PDFVestibular function in children with neurodevelopmental disorders: A neglected sense?
Clin Neurophysiol
January 2025
Ghent University, Department of Rehabilitation Sciences, Corneel Heymanslaan 10 9000 Ghent, Belgium; Ghent University Hospital, Department of Otorhinolaryngology, Corneel Heymanslaan 10 9000 Ghent, Belgium.
Objective: The study aimed to explore the vestibular function in children with neurodevelopmental disorders (NDDs).
Methods: Twenty-eight participants with a NDD (6 girls, 22 boys; 6-13 years; 9;3 ± 2;4 years) were enrolled in this pilot study. Sixteen participants had a single NDD (Autism Spectrum Disorder: n = 7, Developmental Coordination Disorder: n = 3; Attention Deficit/Hyperactivity Disorder: n = 6), the remaining 12 had comorbid NDDs.
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