Results 71 to 80 of about 2,067,463 (390)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

RISIKO GANGGUAN PENDENGARAN PADA NEONATUS HIPERBILIRUBINEMIA [PDF]

, 2010
Background. The prevalence of hearing impairment on the Indonesian population according to 2007 WHO data is estimated at 4.2 %, and one of the cause is neonatal hyperbilirubinemia.
Susanto, Susanto
core  

DFNA5: hearing impairment exon instead of hearing impairment gene? [PDF]

Journal of Medical Genetics, 2004
Three mutations in the DFNA5 gene have been described in three families with autosomal dominant non-syndromic hearing impairment. Although these mutations are different at the genomic DNA level, they all lead to skipping of exon 8 at the mRNA level. We hypothesise that hearing impairment associated with DFNA5 is caused by a highly unusual mechanism, in
Van Laer, Lut, Vrijens, Karen, Thys, S., Van Tendeloo, Vigor, Smith, R.J.H., Van Bockstaele, Dirk, Timmermans, Jean-Pierre, Van Camp, Guy   +7 more
openaire   +4 more sources

Bilateral versus Unilateral Training With Rhythmic Auditory Cueing in Stroke Rehabilitation: Effects on Upper Limb Function and Interhemispheric Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Stroke is a leading cause of long‐term disability in adults, with upper limb hemiparesis being a common impairment. Traditional training is mostly aimed at paralyzed limbs, but the effect of bilateral training is still unclear.
Fangfang Qian, Yanhong Dai, Guoqiang Zheng, Qi Zhong, Jianliang Lu, Luying Hu, Youhua He, Zhuoming Chen   +7 more
wiley   +1 more source

Audio-vestibular symptoms in systemic autoimmune diseases [PDF]

, 2018
Immune-mediated inner ear disease can be primary, when the autoimmune response is against the inner ear, or secondary. The latter is characterized by the involvement of the ear in the presence of systemic autoimmune conditions. Sensorineural hearing loss
Adelchi, Croce, D'AGUANNO, VITTORIO, DE VINCENTIIS, Marco, DE VIRGILIO, ARMANDO, DI STADIO, Arianna, GRECO, Antonio, LONGO, Lucia, RALLI, MASSIMO   +7 more
core   +1 more source

Prevalence of anxiety disorders and symptoms in people with hearing impairment: a systematic review

Social Psychiatry and Psychiatric Epidemiology, 2018
PurposeAnxiety disorders are common. Prevalence is likely to be raised in people with hearing impairment, who experience higher rates of associated risk factors. We conducted, to our knowledge, the first systematic review of the prevalence and correlates
Natalie Shoham, G. Lewis, G. Favarato, C. Cooper   +3 more
semanticscholar   +1 more source

Comparison of Self-Determination Ability and its Components in Individuals with Hearing Impairment, Visual Impairment and without Impairment [PDF]

پژوهشنامه روانشناسی مثبت, 2016
The aim of the research was comparison of self-determination ability and its components in individuals with hearing or visual impairment, and without impairment.
s Shojaee, A. A. Hossein Khanzadeh, S. Z Seyyed Noori, s Sharifi   +3 more
doaj   +1 more source

Understanding Contributors of Resilience in Youth With Childhood‐Onset Systemic Lupus Erythematosus Through a Socioecological Lens: A Mixed‐Methods Study

Arthritis Care &Research, EarlyView.
Objective This study aimed to identify themes contributing to resilience in childhood‐onset systemic lupus erythematosus (cSLE), distinguish between profiles of resilience, and examine how they relate to underlying themes and patient characteristics. Methods We conducted a mixed‐methods study of 21 patients with cSLE aged 11 to 19 years at a Canadian ...
Isabella Zaffino, Louise Boulard, Joanna Law, Asha Jeyanathan, Lawrence Ng, Sandra Williams‐Reid, Kiah Reid, Angela Cortes, Eugene Cortes, Ashley Danguecan, Deborah M. Levy, Linda T. Hiraki, Andrea M. Knight   +12 more
wiley   +1 more source

Prevalence of hearing loss and hearing impairment among small and medium enterprise workers in Selangor, Malaysia [PDF]

, 2017
Factories and Machinery (Noise Exposure) Regulation 1989 has always demanded employer to protect workers from noise exposure ≥85 dB. However, noise induced hearing loss (NIHL) has been the highest notifiable occupational health issue among Malaysian ...
Anita A.R.,, Haslinda A.,, Hayati K.S.,, Lim, C.S., Sam, W.Y.   +4 more
core   +1 more source

Ageism in Rheumatology: The Health Care Professional's Perspective

Arthritis Care &Research, EarlyView.
Objective Ageism (age‐based stereotypes, prejudice, or discrimination) is prevalent and linked to prolonged disability and reduced lifespan in older adults. Little is known about ageism within rheumatology. This study explores the health care professional's (HCP) perception of the care of older adults and how ageist attitudes or perspectives may impact
Aaron P. Smith, Pooja M. Achanta, Jiha Lee, Namrata Singh, Una E. Makris   +4 more
wiley   +1 more source