Results 51 to 60 of about 92,090 (322)

Tuberculous Meningitis Presented with Bilateral Sensorineural Hearing Loss: Acute Deafness

Türk Nöroloji Dergisi, 2011
Tuberculous meningitis is the most severe manifestation of extrapulmonary tuberculosis with a high mortality and morbidity rates. It is usually presented with headache, fever, consciousness disturbances and convulsions. Eigth cranial nerve involvement is
Kürşad Çetin Akpınar, Hakan Doğru, Kemal Balcı   +2 more
doaj   +2 more sources

Perda auditiva neurossensorial súbita idiopática: evolução na presença de hipertensão arterial sistêmica, diabetes melito e dislipidemias Idiopathic sudden sensorineural hearing loss: evolution in the presence of hypertension, diabetes mellitus and dyslipidemias

Brazilian Journal of Otorhinolaryngology, 2010
Estudo retrospectivo com o objetivo de avaliar a interferência das doenças associadas na evolução e prognóstico da perda auditiva neurossensorial súbita idiopática. MATERIAL E MÉTODO: Estudo caso controle.
Jayson Nagaoka, Marcelo Ferreira dos Anjos, Thales Takeo Takata, Renan Moukbel Chaim, Flavia Barros, Norma de Oliveira Penido   +5 more
doaj   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome

International Archives of Otorhinolaryngology, 2013
Background Harboyan syndrome, defined as congenital corneal dystrophy associated with progressive sensorineural hearing loss, was first described by Harboyan in 1971.
Lauren Medeiros Paniagua, Maria Elza Kazumi Yamaguti Dorfman, Luiz Lavinsky, Pricila Sleifer   +3 more
doaj   +1 more source

Fluctuating Sensorineural Hearing Loss [PDF]

Audiology and Neurotology, 2019
<b><i>Background:</i></b> Several otologic conditions can present with fluctuating sensorineural hearing loss, including Ménière’s disease, autoimmune inner ear disease, and enlarged vestibular aqueduct. Although these 3 etiologies vary greatly, distinguishing between these conditions at initial presentation can be challenging ...
Hui Liu, Kunpeng Zhou, Xuemei Zhang, Kevin A. Peng   +3 more
openaire   +3 more sources

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Assessment of Hearing Defect in Oral Submucous Fibrosis: A Cross-Sectional Study

Journal of Orofacial Sciences
Introduction: This study was designed to assess the hearing defect in oral submucous fibrosis and compare the hearing defect in different stages of oral submucous fibrosis (OSMF) and also the hearing defect in the control group.
Garikapati Anoop, Nunsavathu Purnachandra Rao Naik, Yalamanchili Samata, Saranu Sethu Manjusha, Chennupati Tejaswi   +4 more
doaj   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen, Dayna Morel Swols, Guney Bademci, Mustafa Tekin   +3 more
wiley   +1 more source

RISIKO GANGGUAN PENDENGARAN PADA NEONATUS HIPERBILIRUBINEMIA [PDF]

, 2010
Background. The prevalence of hearing impairment on the Indonesian population according to 2007 WHO data is estimated at 4.2 %, and one of the cause is neonatal hyperbilirubinemia.
Susanto, Susanto
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