Results 311 to 320 of about 66,196 (390)

The Diverse Genetic Landscape of Hearing Impairment in South African Families

Clinical Genetics, EarlyView.
South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M. Leal   +10 more
wiley   +1 more source

Mucormycosis and Hearing: A Hospital-Based Study. [PDF]

Int Arch Otorhinolaryngol
Jati M, Arora RD, Koutsu R, Nagarkar NM, Marandi R, Agrawal K.   +5 more
europepmc   +1 more source

Looking for central nervous system involvement in congenital cytomegalovirus infection : is lumbar puncture necessary? [PDF]

, 2011
Smets, Koenraad
core   +1 more source

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice

Clinical Genetics, EarlyView.
We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix, Patricia Dubot, Alexey V. Pshezhetsky, Philippe M. Campeau   +3 more
wiley   +1 more source

Diagnosis and management of bilateral and multiple semicircular canal dehiscence: a case report. [PDF]

Pan Afr Med J
Andaloussi TB, Bouqes M, Ouattassi N, Afellah M, Ridal M, Benmansour N, Zaki Z, Oudidi A, El Alami MNEA.   +8 more
europepmc   +1 more source

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome

Clinical Genetics, EarlyView.
Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato, Massimo Galli, Giacomo D'Angeli, Irene Bottillo, Luca Celli, Rosaria Turchetta, Andrea Colizza, Francesca Gianno, Biagio Palmisano, Francesca Romana Federici Stanganelli, Maria Rita Bianco, Daniela Messineo, Eugenia Allegra, Paola Grammatico, Mara Riminucci, Alessandro Corsi   +15 more
wiley   +1 more source

Feasibility of Stepwise Technology-Based Audiometry With Rapid Results (STARR) Protocol in Minnesota Elementary Schools. [PDF]

Otolaryngol Head Neck Surg
Sajjadi A, McBride M, Guettler K, Janasko S, House S, Bergsten C, Antwi N, Marker M, Todatry S, Rabusch S, Maher R, Roby B, Meyer AC, Redmann A, Chinnadurai S, Jayawardena ADL.   +15 more
europepmc   +1 more source

Defining the Terminology for Acute Ear Discharge in Children: Systematic Review and Expert Consensus Using the Nominal Group Technique

Clinical Otolaryngology, EarlyView.
ABSTRACT Background Acute otitis media (AOM) is one of the most frequent paediatric infections. In approximately 15% of children with AOM, the tympanic membrane perforates, leading to ear discharge. This subset of children is usually more unwell and may need different treatment than those without a perforation.
Elliot Heward, James Dempsey, Amy McGovarin, John Molloy, Mark Wilbourn, Eason Sivayoham, Merijam Kikic, Jaya R. Nichani, Iain A. Bruce   +8 more
wiley   +1 more source

Neurotologic Findings of Idiopathic Acute Unilateral Audiovestibulopathy. [PDF]

Eur J Neurol
Kim KT, Park A, Lee SU, Park E, Kim B, Kim JS.   +5 more
europepmc   +1 more source

Hearing Screening in Private Family Practice Medicine Using Tablet Applications. [PDF]

Ann Fam Med
El Mouahidine M, Génin A, Venail F, Puel JL, Ceccato JC.   +4 more
europepmc   +1 more source