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| Xia,Hong; Huang,Xiangjun; Xu,Hongbo; Zhou,Yong-an; Gong,Lina; Yang,Zhijian; Lv,Jingyan; Deng,Hao. |
| Abstract Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous neurosensory disorder, usually characterized by congenital or prelingual hearing loss. We report a Han Chinese male, born to consanguineous parents, presenting with nonsyndromic sensorineural hearing loss, whose clinical phenotype was also consistent with auditory neuropathy spectrum disorder (ANSD). After exome sequencing, a gap junction protein beta 2 gene (GJB2) c.235delC variant in the homozygous state was detected in the patient. Both parents were heterozygous for this variant, as documented by Sanger sequencing. The known pathogenic GJB2 c.235delC variant was not detected in 200 healthy controls. It is predicted to be a disease-causing alteration by... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Auditory neuropathy spectrum disorder; Exome sequencing; Hearing loss; GJB2 gene; GJB2 c.235delC variant. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100048 |
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| Onsori,Habib. |
| Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. The first locus for nonsyndromic autosomal recessive HL is on chromosome 13q11-22. The two genes, GJB2 and GJB6, are closely located on chromosome and are known to be co-expressed in the embryonic cochlea. Deletion mutations involving GJB6 were associated with autosomal-recessive nonsyndromic hearing loss (ARNSHL) and in combination with a GJB2 mutation with digenic ARNSHL. The objective of this study was to screen for the del (GJB6-D13S1830) and del (GJB6-D13s1854) mutations in GJB6 gene in patients with ARNSHL from Iran, using multiplex PCR and direct sequencing methods. Agarose gel electrophoresis and DNA sequencing of amplified fragment of the PCR reaction... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hearing loss; GJB6; GJB2; Deletion Mutation; Iran. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132016000100311 |
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| Mendes-Corrêa,Maria Cassia Jacintho; Bittar,Roseli Saraiva Moreira; Salmito,Norma; Oiticica,Jeanne. |
| Sudden hearing loss is defined as a sensorineural hearing loss, equal to or greater than 30 dB, at three or more consecutive frequencies, which takes place within 72 hours. Both peginterferon and ribavirin are well-known to be associated with significant adverse effects, but sudden hearing loss is uncommon. We report a 65-year-old male patient who developed sudden-onset hearing loss during combination therapy with pegylated interferon-alpha and ribavirin for chronic hepatitis C. Peginterferon and ribavirin may cause sudden hearing loss that may not recover after discontinuation of therapy. Immediate treatment for all possible etiologies is essential, along with targeted investigations and early referral for an Ear, Nose and Throat specialist. Physicians... |
| Tipo: Info:eu-repo/semantics/report |
Palavras-chave: Hepatitis C; Chronic; Hearing loss; Sudden; Interferon-alpha. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702011000100017 |
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| Barboza Jr.,L.C.M.; Lezirovitz,K.; Zanatta,D.B.; Strauss,B.E.; Mingroni-Netto,R.C.; Oiticica,J.; Haddad,L.A.; Bento,R.F.. |
| In mammals, damage to sensory receptor cells (hair cells) of the inner ear results in permanent sensorineural hearing loss. Here, we investigated whether postnatal mouse inner ear progenitor/stem cells (mIESCs) are viable after transplantation into the basal turns of neomycin-injured guinea pig cochleas. We also examined the effects of mIESC transplantation on auditory functions. Eight adult female Cavia porcellus guinea pigs (250-350g) were deafened by intratympanic neomycin delivery. After 7 days, the animals were randomly divided in two groups. The study group (n=4) received transplantation of LacZ-positive mIESCs in culture medium into the scala tympani. The control group (n=4) received culture medium only. At 2 weeks after transplantation, functional... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cochlea; Hearing loss; Stem cells; Cell transplantation; Ototoxicity. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016000400603 |
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