Results 51 to 60 of about 47,990 (266)

Risk factors for sensorineural hearing loss in children

Payesh, 2002
Objective: To determine Risk factors for sensorineural hearing loss in children. Material & methods: The association of selected  risk factors with sensorineural hearing loss was assessed in a case- control study of 396 children aged under 6 years from ...
Sadighi J, Majlesi F
doaj  

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

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

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Transient otoacustic emissions with tone pip in individuals with sensorineural hearing loss Emissões otoacústicas transitórias com estímulo tone pip em indivíduos portadores de perda auditiva neurossensorial

Brazilian Journal of Otorhinolaryngology, 2011
Otoacoustic Emissions are generated by the cochlea in response to sound stimuli. They can be generated by clicks or specific frequency stimuli, such as tone pips. This is a quick and objective test with several applications. OBJECTIVE: To investigate the
Thays Bueno Takeda, Daniela Gil
doaj   +1 more source

Role of acamprosate in sensorineural tinnitus

Indian Journal of Pharmacology, 2012
Acamprosate with dual mechanism of action as glutamate antagonist and GABA agonist can be a potential target to decrease the severity of sensorineural tinnitus.(1)To study the effectiveness of acamprosate in providing subjective relief and objective improvement in patients having tinnitus of sensorineural origin.
Sharma, Dinesh Kumar, Kaur, Sharanjit, Singh, Jatinder, Kaur, Inderpal   +3 more
openaire   +3 more sources

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

The Treatment of Idiopathic Sudden Sensorineural Hearing Loss Using Phle-botomy: A Prospective, Randomized, Double-Blind Clinical Trial

Acta Medica Iranica, 2009
This randomized clinical trial aimed to assess the efficacy of phlebotomy on improvement of hearing loss. 71 patients with sudden sensorineural hearing loss were enrolled in this randomized clinical trial study. They were divided into two groups: group A
Fatholah Behnoud, Mohammad Taghi Goodarzi   +1 more
doaj  

Cognitive Function in Acquired Bilateral Vestibulopathy: A Cross-Sectional Study on Cognition, Hearing, and Vestibular Loss

Frontiers in Neuroscience, 2019
BackgroundSeveral studies have demonstrated cognitive deficits in patients with bilateral vestibulopathy (BVP). So far, little attention has been paid to the hearing status of vestibular patients when evaluating their cognition.
Bieke Dobbels, Bieke Dobbels, Griet Mertens, Griet Mertens, Annick Gilles, Annick Gilles, Annes Claes, Annes Claes, Julie Moyaert, Raymond van de Berg, Raymond van de Berg, Paul Van de Heyning, Paul Van de Heyning, Olivier Vanderveken, Olivier Vanderveken, Vincent Van Rompaey, Vincent Van Rompaey   +16 more
doaj   +1 more source

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