Results 181 to 190 of about 55,610 (296)

Correction: Cochlear implantation for tinnitus in adults with bilateral hearing loss: protocol of a randomised controlled trial. [PDF]

BMJ Open, 2022
europepmc   +1 more source

Prevention of microglial activation and postoperative cognitive deficits by positive allosteric modulation of α5‐GABAA receptors

British Journal of Pharmacology, EarlyView.
Background and Purpose Long‐lasting cognitive deficits after surgery in aged individuals, referred to as perioperative neurocognitive disorder (NCD), are a significant public health concern. Such postoperative cognitive deficits are dependent on the presence of microglia in the brain, which, when activated, trigger neuroinflammation.
Jinrui Lyu, Rajasekar Nagarajan, Dishary Sharmin, Prithu Mondal, Maltesh Kambali, Muxiao Wang, Jinyan Zhou, Makoto Inoue, James M. Cook, Uwe Rudolph   +9 more
wiley   +1 more source

Cochlear Implantation Benefits for Patients with Trauma-Induced Bilateral Hearing Loss: A Retrospective Analysis. [PDF]

Med Sci Monit
Skarżyński PH, Kołodziejak A, Czaplicka E, Czajka N, Ratuszniak A, Porowski M, Skarżyński H.   +6 more
europepmc   +1 more source

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy

Clinical Genetics, EarlyView.
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk, Aleš Maver, Martina Jarc Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar Habjan, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin Jerman, Rok Romih, Marko Hawlina, Borut Peterlin   +13 more
wiley   +1 more source

Personalizing Cochlear Implant Care in Single-Sided Deafness: A Distinct Paradigm from Bilateral Hearing Loss. [PDF]

J Pers Med
Lin EY, Younan SM, Barrett KC, Jiam NT.
europepmc   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Otosyphilis and Malignant Syphilis in a Human Immunodeficiency Virus-Infected Patient: A Case of Bilateral Hearing Loss with Complete Recovery Following Ceftriaxone Therapy - Case Report. [PDF]

Infect Drug Resist
Achdiat PA, Natasya RA, Sutedja EK, Firdaus CP, Sabila AA, Maharani RH.   +5 more
europepmc   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, EarlyView.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in <i>FAM83G</i>. [PDF]

Front Med (Lausanne)
Mora-Gómez M, Feito M, Gallego-Zazo N, Maseda-Pedrero R, Sobral-Costas TG, Miranda-Alcaraz L, Vásquez-Amell V, Rodríguez-Canó M, Parra A, Cazalla M, Arias P, Silván C, Jiménez-Estrada JA, Ruiz-Pérez VL, Nevado J, Lapunzina P, Tenorio-Castano J.   +16 more
europepmc   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source