Results 61 to 70 of about 14,533,186 (382)

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin, Haocheng Yang, Feng Liu, Sihao Lin, Junru Hu, Jian Wang, Yulan Gou   +6 more
wiley   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Covid-19 Lockdown Affects Hearing Disability and Handicap in Diverse Ways: A Rapid Online Survey Study

Ear and Hearing, 2020
Supplemental Digital Content is available in the text. Objectives: The aim of this study was to explore the perceived effects of coronavirus disease 2019 (Covid-19) social distancing restrictions and safety measures on people with hearing loss.
G. Naylor, Louise Burke, Jack A. Holman
semanticscholar   +1 more source

Correlação entre os limiares das curvas de crescimento das EOAPD e tons puros Correlation between DPOAE I/O functions and pure-tone thresholds

Brazilian Journal of Otorhinolaryngology, 2011
Diversos estudos foram realizados com o objetivo de correlacionar limiares audiométricos e medidas de emissões otoacústicas - produtos de distorção (EOA-PD).
Ualace de Paula Campos, Renata Mota Mamede Carvallo   +1 more
doaj   +1 more source

A European perspective on auditory processing disorder-current knowledge and future research focus [PDF]

, 2017
Current notions of \u201chearing impairment,\u201d as reflected in clinical audiological practice, do not acknowledge the needs of individuals who have normal hearing pure tone sensitivity but who experience auditory processing difficulties in everyday ...
Bamiou, Doris-Eva, Barajas, Jose, Brechmann, Andr\ue3\ua9, Callimachou, Marina, Deggouj, Na\ue3\uafma, Demanez, Laurent, Grech, Helen, Hedjever, Mladen, Iliadou, Vasiliki, Kiese-Himmel, Christiane, Konukseven, Ozlem, Kuske, Sandra, Martins, Jorge Humberto, Mattsson, Tone Stokkereit, Nickisch, Andreas, Pedersen, Ellen Raben, Ptok, Martin, Santarelli, Rosamaria, Sirimanna, Tony, Sliwinska-Kowalska, Mariola, Thai-Van, Hung, Veraguth, Dorothy, Veuillet, Evelyne   +22 more
core   +7 more sources

The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma, Ilo Leppik, Thomas Henry, Thaddeus Walczak, Sima Patel, Robert McGovern   +5 more
wiley   +1 more source

Interaction between audiology and genetics in the study of a family: the complexity of molecular diagnosis and genetic counseling

Brazilian Journal of Otorhinolaryngology, 2008
Summary: Hearing loss is a multifaceted condition with many etiologies, among which genetic mutation is. Therefore, it is important to connect audiological investigation to etiological diagnosis.
Flavia Maria Rodrigues Hoffmann, Patrícia Fernandes Rodrigues, Teresa Maria Momensohn dos Santos, Edi Lucia Sartorato, Andréa Trevas Maciel-Guerra, Carla Gentile Matas, Vanessa Cristine Sousa de Moraes   +6 more
doaj   +1 more source

Feasibility and Reliability of Health-Related Physical Fitness Tests in Children and Adolescents with Hearing Impairment [PDF]

, 2023
Jiafu Huang, Jianmei Yang, Justin A. Haegele, Lijuan Wang, Sitong Chen, Chunxiao Li   +5 more
openalex   +1 more source

Evaluation of hearing and cochlear function by audiometric testing in patients with hyperemesis gravidarum [PDF]

, 2015
INTRODUCTION: The aim of this study was to investigate cochlear functions in patients with hyperemesis gravidarum (HG).METHODS: Twenty-nine HG patients (58 ears) and 31 healthy control subjects (62 ears) were included.
Demirtas, Ömer, Genç, Selahattin, Kale, Ahmet, Selçuk, Adin, Terzi, Hasan, Yavuz, Arzu   +5 more
core   +2 more sources

LOXHD1 and RHOB Expression by Monocytes Predicts Progressive Systemic Sclerosis associated Interstitial Lung Disease

Arthritis Care &Research, Accepted Article.
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla, Robert Lafyatis, Kevin F Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J Kass   +13 more
wiley   +1 more source