Results 51 to 60 of about 2,924,879 (281)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Sudden Sensorineural Hearing Loss Following Wasp Sting and Successful Treatment With Intratympanic Steroids

Clinical Medicine Insights: Case Reports, 2019
Objective: A sting by a Vespula vulgaris (wasp) should be considered as a cause of sudden sensorineural hearing loss. Although the mechanism of this cause is not well understood, management approach is similar to idiopathic sudden sensorineural hearing ...
Anwuli Anyah, Michael Visconti, James Spoto   +2 more
doaj   +1 more source

Associations Between Antidiabetic Pharmacotherapy and Hearing Thresholds in Adult Hearing-Impaired Patients With Type 2 Diabetes. [PDF]

Pharmacol Res Perspect
ABSTRACT Type 2 diabetes mellitus (T2DM) has increasingly been identified as a risk factor for sensorineural hearing loss, whereas the association between different antidiabetic therapies and hearing thresholds remains poorly characterized. This retrospective observational study evaluated 240 patients with T2DM and 105 normoglycemic controls who ...
Martines F, Salvago P, Vaccaro F, Vaccaro D, Malta G, Plescia F, Cascioferro S, Lavanco G, Plescia F.   +8 more
europepmc   +2 more sources

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Bone-anchored hearing aids for people with bilateral hearing impairment: a systematic review [PDF]

, 2011
BACKGROUND: Bone-anchored hearing aids (BAHAs) are indicated for people with conductive or mixed hearing loss who can benefit from amplification of sound.
Sheehan, P.Z., Clegg, A.J., Colquitt, J.L., Mitchell, T.E., T.E. Mitchell, A.J. Clegg, P.Z. Sheehan, D.M. Baguley, Loveman, E., D.W. Proops, P. Harris, J. Jones, Harris, P., Welch, K., K. Welch, J.L. Colquitt, Jones, J., Baguley, D.M., Proops, D.W., E. Loveman   +19 more
core   +1 more source

Recovery of sensorineural hearing loss in congenital hypothyroidism

B-ENT, 2017
Recovery of sensorineural hearing loss in congenital hypothyroidism. Introduction: Congenital hypothyroidism (CH) may generate serious neurologic complications in children.
A. Grandjean, T. Van Becelaere, D. Beckers, P. Eloy, J.P. Van Damme, P. Garin, C. Gilain   +6 more
doaj   +2 more sources

Behçet disease: do individual symptomatology or certain drug intake reflect the severity of sensory neural hearing loss?

Egyptian Rheumatology and Rehabilitation
Background Behçet disease is a relapsing, chronic, systemic inflammatory illness characterized by mucocutaneous, articular, neurological, urogenital, vascular, intestinal, and pulmonary symptoms in addition to recurrent aphthous stomatitis, genital ...
Dina Osman, Mervat Bahiri, Noha Hassan, Yumn Elsabbagh   +3 more
doaj   +1 more source

Screening of Connexin 26 in Nonsyndromic Hearing Loss

International Archives of Otorhinolaryngology, 2015
Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11–22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important.
Danielle Moreira, Daniela da Silva, Priscila Lopez, Jair Cortez Mantovani   +3 more
doaj   +1 more source

Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss

Frontiers in Neurology, 2020
Hearing loss not only has a significant impact on the quality of life of patients and society, but its correlation with cognitive decline in an aging population will also increase the risk of incident dementia. While current management of hearing loss is
Vincent Van Rompaey, Vincent Van Rompaey
doaj   +1 more source