Results 61 to 70 of about 75,406 (285)

Essential of audiology: screening and postscreening [PDF]

, 2014
Newborn hearing screening is a type of screening test for the early detection of hearing loss. It can recognize with good accuracy newborns affected by hearing impairment allowing an early diagnosis and intervention and avoiding cognitive and ...
Cocuzza, S, La Mattina, E, Martinelli, S, MARTINES, Enrico, MARTINES, Francesco, MUCIA, Marianna, SALVAGO, Pietro   +6 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Prevalence Of Sensorineural Hearing Loss Among Stroke

Liaquat Medical Research Journal
This study was designed to determine the prevalence of sensorineural hearing loss among stroke patients. A cross-sectional analytical study was conducted. Medicine department of HMC Peshawar and lady reading hospital (LRH) in Peshawar.
Zarafshan Ahsan, Muhammad Sikander Ghayas Khan, Ayesha Badar, Malik Muhammad Qasim, Ultamish Munir, Hadia Sultan, Tayyaba Usman   +6 more
doaj   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

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

Sensorineural Hearing Loss Due to Pegylated Interferon Alfa/Ribavirin Therapy: A Case Report

Viral Hepatitis Journal, 2012
The effect of interferon alpha in chronic viral hepatitis and common side effects are well known, but hearing loss have been rarely reported. A 66-year-old woman was administered peg- interferon alpha-2a (180 mcg, one times a week) and ribavirin(1200 mg ...
Tuğba SARI, Süda TEKİN KORUK, Alaaddin ZİREK   +2 more
doaj   +1 more source

Neonatal hearing screening in high-risk patients with otoacoustic emissions: evaluation of results [PDF]

, 2015
Resumen Objetivo: evaluar la efectividad del programa de tamizaje auditivo del Homic en pacientes de alto riesgo de hipoacusia neurosensorial, el cual está basado en la realización de otoemisiones acústicas Diseño: estudio de cohorte retrospectiva, en ...
Diaz Patiño, Diana Patricia, Gonzalez Marin, Nestor, Ordoñez Ordoñez, Leonardo, Paredes, Dunia, Ramirez, Claudia, Rodriguez, Silvia Raquel, Silva Rueda, Ricardo   +6 more
core  

Risk factors for sensorineural hearing loss among high-risk infants in Golestan province, Iran in 2010 - 2011 [PDF]

, 2015
Background: Hearing impairment, as one of the most common birth defects, is a hidden disability with negative impacts on speech and cognitive development. Objectives: The aim of this study was to assess the prevalence of sensorineural hearing loss (SNHL)
Alaee, E., Fouladinejad, M., Sirati, M., Taziki, M.H.   +3 more
core   +2 more sources

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source