Results 151 to 160 of about 55,425 (230)

Sensorineural hearing loss in anti-interleukin-1 treated CAPS patients: risk factors and real-life barriers-an observational study. [PDF]

open access: yesRheumatology (Oxford)
Satirer Ö   +5 more
europepmc   +1 more source

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

open access: yesJournal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng   +9 more
wiley   +1 more source

Bortezomib-Induced Sensorineural Hearing Loss May Be Reversible with Intratympanic Dexamethasone. [PDF]

open access: yesHematol Rep
Peláez Casillas N   +4 more
europepmc   +1 more source

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Diane Margoses   +19 more
wiley   +1 more source

Statin Use and Reduced Risk of Sudden Sensorineural Hearing Loss in Type 2 Diabetes [PDF]

open access: bronze
Tongyun Li   +5 more
openalex   +1 more source

CDG due to Defective Membrane Transporters: Update

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source

Betaherpesvirus Incidence in Saliva Samples From Patients With Hematological Neoplasms: Frequency, Clinic and Diagnostic Insights

open access: yesJournal of Medical Virology, Volume 98, Issue 1, January 2026.
ABSTRACT Hematological neoplasms (HN) are disorders originating in blood cells that hold significant epidemiological importance. Treatments available for these conditions can induce immunosuppression, and it increases the risk of viral infections and reactivations, mainly by Human betaherpesviruses (HCMV, HHV‐6, and HHV‐7).
Ana Carolina Silva Guimarães   +9 more
wiley   +1 more source

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