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| Martins,Fábio Tadeu Arrojo; Ramos,Berenice Dias; Sartorato,Edi Lúcia. |
| Abstract HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family, from which the proband, his mother and his grandfather were diagnosed with bilateral sensorineural hearing loss. Molecular screening of the GJB2, GJB6 and MTRNR1 genes in the proband showed no alterations; however, whole exome sequencing detected a heterozygous mutation, c.1099C > T (p.Arg367*), in the GATA3 gene. Segregation analyses showed that the mother also had the mutation, but not the grandparents, hence indicating a different hearing impairment type for the grandfather. Paternity test of the mother of the proband confirmed that... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: HDR syndrome; Hypoparathyroidism; Deafness; Renal abnormalities; Whole exome sequencing. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500794 |
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| Palumbo,M.I.P.; Resende,L.A.L.; Mayhew,I.G.J.; Borges,A.S.. |
| The brain stem auditory-evoked potential (BAEP) is an electrophysiologic test that detects and records the electrical activity in the auditory system from cochlea to midbrain, generated after an acoustic stimulus applied to the external ear. The aim of this study is to obtain normative data for BAEP in Dalmatian dogs in order to apply this to the evaluation of deafness and other neurologic disorders. BAEP were recorded from 30 Dalmatian dogs for a normative Brazilian study. Mean latencies for waves I, III, and V were 1.14 (±0.09), 2.62 (±0.10), and 3.46 (±0.14) ms, respectively. Mean inter-peak latencies for I-III, III-V, and I-V intervals were 1.48 (±0.17), 0.84 (±0.12), and 2.31 (±0.18) ms, respectively. Unilateral abnormalities were found in 16.7% of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Dog; Deafness; Auditory evoked potential. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352014000200016 |
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| Gama,Juliana Almeida Nogueira da; Palumbo,Mariana Isa Poci; Olivo,Giovane; Outeda,Nadia Crosignani; Resende,Luiz Antônio de Lima; Borges,Alexandre Secorun. |
| ABSTRACT: The brainstem auditory evoked potential (BAEP) evaluates the integrity of the auditory pathways to the brainstem. The aim of this study was to evoke BAEPs in 21 clinically normal horses. The animals were sedated with detomidine hydrochloride (0.013mg.kg-1 BW). Earphones were inserted and rarefaction clicks at 90 dB and noise masking at 40 dB were used. After performing the test, the latencies of waves (I, II, III, IV, and V) and interpeaks(I-III, III-V, and I-V) were identified. The mean latencies of the waves were as follows: wave I, 2.4 ms; wave II, 2.24 ms; wave III, 3.61ms; wave IV, 4.61ms; and wave V, 5.49ms. The mean latencies of the interpeaks were as follows: I-III, 1.37ms; III-V, 1.88ms; and I-V, 3.26ms. This is the first study using... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Horses; Interpeaks; Latency; Deafness. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782016000400681 |
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