Results 61 to 70 of about 92,850 (294)

Universal newborn hearing screening in the Lazio region, Italy [PDF]

, 2018
Background: The introduction of Universal Newborn Hearing Screening (UNHS) programs has drastically contributed to the early diagnosis of hearing loss in children, allowing prompt intervention with significant results on speech and language development ...
Cammeresi, Maria Gloria, Conti, Guido, Frezza, Simonetta, Giannantonio, Sara, Greco, Antonio, Marsella, Pasquale, Orlando, Maria Patrizia, Picciotti, Pasqualina Maria, Ralli, Massimo, Russo, Francesca Yoshie, Scorpecci, Alessandro, Turchetta, Rosaria   +11 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Prevalence of unilateral hearing loss among kindergarteners aged 3-6 years in Hamadan city, 2012

پژوهان, 2012
Introduction: Unilateral hearing loss has devastating effects on sound localization, speech understanding in adverse listening conditions, academic achievement, behavior and learning of Hearing impaired children.
Atta Heidari, Ayub Valadbeigi
doaj  

Age at diagnosis of paediatric unilateral and bilateral permanent hearing loss in Eastern Switzerland: a retrospective cohort study

Swiss Medical Weekly
STUDY AIM: Undiagnosed and therefore untreated permanent paediatric hearing loss can have a detrimental impact on a child’s speech, language, social and educational development, and quality of life.
Samuel P. Hofmann, Sandro J. Stoeckli, Jochen Rosenfeld   +2 more
doaj   +1 more source

Predicting speech perception outcomes following cochlear implantation in adults with unilateral deafness or highly asymmetric hearing loss [PDF]

, 2016
Unilateral deafness and highly-asymmetric hearing loss can impair listening abilities in everyday situations, create substantial audiological handicap, and reduce overall quality of life.
Kitterick, Pádraig T., Lucas, Laura
core   +2 more sources

Unilateral Hearing Loss

Logopedija
Jednostrano oštećenje sluha zadire u brojne aspekte čovjekova života. Cilj je ovoga preglednoga rada pobliže opisati problematiku navedenoga oštećenja i istaknuti ulogu logopeda u rehabilitacijskom procesu. Jednostrano oštećenje sluha može biti prisutno u svim razdobljima života - od novorođenačke do treće životne dobi.
Ivana Šimić, Ivona Todorić, Sandra Sinković, Nina Obradović, Lana Ožvald, Magdalena Šparica   +5 more
openaire   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Neurologic Deficits Including Auditory Loss and Recovery of Function in Horses with Temporohyoid Osteoarthropathy. [PDF]

, 2015
BackgroundAuditory loss is a common deficit in horses with temporohyoid osteoarthropathy (THO), however, recovery of function is unknown.Hypothesis/objectivesTo investigate neurologic function with emphasis in audition in horses with THO after treatment.
Aleman, M, Nieto, JE, Spriet, M, Williams, DC   +3 more
core   +2 more sources

Unilateral sensorineural hearing loss

Indian Journal of Otology, 2016
Background: This retrospective study was carried out to know the characteristics of patients suffering from unilateral sensorineural hearing loss (USNHL) (type and degree). Aims and Objectives: (1) To know the incidence of pure USNHL ...
Divyank Bansal, Saurabh Varshney, Manu Malhotra, Poonam Joshi, Narendra Kumar   +4 more
openaire   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source