Association between Metabolic Syndrome Components and Sudden Sensorineural Hearing Loss
, 2023 A. Laras, Ray Wagiu Basrowi
openalex +2 more sources
Clinical Endocrinology, Volume 104, Issue 2, Page 92-102, February 2026.ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri +6 more
wiley +1 more source
Profound Cognitive Impairment as a Salient Feature of Multiple Sclerosis: A Case Report
Clinical and Experimental Neuroimmunology, Volume 17, Issue 1, February 2026.ABSTRACT Background Cognitive impairment affects up to two‐thirds of patients with multiple sclerosis (MS); however, profound global deficits, defined as a full‐scale IQ below 70, are uncommon and rarely constitute the primary symptom. Case Presentation We describe a 27‐year‐old woman with severe multidomain cognitive impairment due to MS ...
Shota Ito +3 more
wiley +1 more source
A case of Langerhans cell histiocytosis localized in the temporal bone, which presented as sudden sensorineural hearing loss: A case report and review of the literature. [PDF]
SAGE Open Med Case RepDavoodi F +5 more
europepmc +1 more source
Prolonged Use of Pancuronium Bromide and Sensorineural Hearing Loss in Childhood Survivors of Congenital Diaphragmatic Hernia [PDF]
, 1999 Po‐Yin Cheung +6 more
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Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort
European Journal of Neurology, Volume 33, Issue 2, February 2026.In this study, we clinically characterized a Swedish cohort with biallelic RFC1 expansions by retrospectively enrolling 30 patients from a tertiary center and analyzing their clinical, genetic, and detailed phenotypic features. Our results suggest a Swedish founder effect in the Norrbotten region and indicate that RFC1‐spectrum disorder should be ...
Victor Alm +12 more
wiley +1 more source
Distal Renal Tubular Acidosis With Sensorineural Deafness in a Saudi Female: A Case Report of an ATP6V1B1 Mutation in a Consanguineous Family. [PDF]
CureusAlrasheed A +3 more
europepmc +1 more source
INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 49-57, January 2026.ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source