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1.
J Deaf Stud Deaf Educ ; 29(2): 258-264, 2024 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-38215790

RESUMO

This methodological study aimed to assess the validity and reliability of the Turkish version of the Evaluation of the Impact of Hearing Loss in Adults (ERSA) questionnaire for individuals with treated hearing loss. The study involved 200 participants, and both exploratory factor analysis and confirmatory factor analysis were used to examine structural validity. External validity was assessed by correlating ERSA scores with the Abbreviated Profile of Hearing Aid Benefit (APHAB). Internal consistency and test-retest reliability were evaluated using Cronbach's alpha and the intraclass correlation coefficient, respectively. The Turkish ERSA demonstrated strong psychometric properties, with significant correlations between APHAB and ERSA scores and excellent internal consistency and test-retest reliability. The findings suggest that the Turkish ERSA is a valid and reliable tool for evaluating the impact of hearing loss in individuals.


Assuntos
Surdez , Auxiliares de Audição , Perda Auditiva , Adulto , Humanos , Reprodutibilidade dos Testes , Psicometria , Inquéritos e Questionários
2.
Audiol Neurootol ; 28(1): 1-5, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36316006

RESUMO

INTRODUCTION: Benign paroxysmal positional vertigo (BPPV) is one of the most common causes of peripheral vertigo and can manifest in different forms. Multicanal BPPV is rare and difficult to treat. TRV Chair is a method that offers diagnosis and treatment at the same time. The aim was to analyze the outcomes of treatment of multicanal BPPV by means of TRV Chair and compare those results with manual maneuvers. METHODS: Forty-nine subjects aged 26-73 and diagnosed with multicanal BPPV were included. Appropriate maneuvers were performed on affected canals either by TRV Chair or manually. The number of maneuvers required by TRV Chair and manual maneuver were analyzed and compared. RESULTS: The mean number of maneuvers performed until the treatment was completed in manual treatment group was 2.57 ± 1.03, and in TRV group, it was 2.25 ± 1.16. No significant difference was observed between the number of maneuvers performed in either group until the end of the treatment (p > 0.05). DISCUSSION/CONCLUSIONS: Neither TRV Chair nor manual maneuvers were superior to the other in the treatment of multicanal BPPV cases.


Assuntos
Vertigem Posicional Paroxística Benigna , Posicionamento do Paciente , Humanos , Vertigem Posicional Paroxística Benigna/terapia , Vertigem Posicional Paroxística Benigna/diagnóstico , Posicionamento do Paciente/métodos , Resultado do Tratamento , Canais Semicirculares
3.
Folia Phoniatr Logop ; 2023 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-37797595

RESUMO

INTRODUCTION: Idioms are commonly used in everyday language to convey emotions figuratively. The ability to comprehend and use idioms that incorporate emotional elements is crucial for effective communication in daily life, particularly among people with aphasia (PwA). Despite the interest in understanding the process of emotion idiom comprehension in PwA, limited information is available in the literature. Therefore, this study aimed to investigate the process of emotion idiom comprehension in people with Wernice's aphasia (PwWA) and compare it with that of neurotypical individuals. METHODS: Sixty idioms were selected based on their syntactic and semantic features, and participants evaluated their imageability. Sixteen idioms were chosen for the study and two types of tasks were prepared: written idiom-picture matching and written idiom-written text matching. These tasks were administered to two groups: 11 PwWA and 11 neurotypical individuals. The results were analysed in terms of task performance, response type, syntactic and semantic features, and emotional content. RESULTS: The emotion idiom comprehension scores of PwWA group were significantly lower than those of the neurotypical participants. PwWA had greater difficulty with the written idiom-picture matching task and tended to rely on the literal meanings of the idioms. There were differences in the semantic features between the two groups. Among the emotional idioms, PwWA showed significant differences in the types of emotions they were able to comprehend. CONCLUSIONS: The findings of this study suggest that regardless of the syntactic content of idioms, PwWA's ability to comprehend emotion idioms is impaired, and they tend to interpret them more literally. This study provides a useful method for assessing emotional idiom comprehension in PwA.

4.
Metab Brain Dis ; 37(6): 2121-2132, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35488943

RESUMO

This study aimed to evaluate audiological findings among patients with glutaric aciduria type 1 (GA-1). We used a large test battery for the audiological evaluation of 17 individuals with GA-1 (the study group) and 20 healthy individuals (the control group). Conventional audiometry (0.125-8 kHz), distortion product otoacoustic emissions (DPOAEs) (1, 1.5, 2, 3, 4, 6, and 8 kHz), contralateral suppression of otoacoustic emissions, and auditory brainstem response (ABR) ( 30, 50, 70 and 90 dB nHL) were measured for all participants (n = 37). Mild sensorineural hearing loss was found in 77.47% (n = 13) of the patients with GA-1, and normal hearing thresholds were seen in 23.53% (n = 4). There were three asymptomatic patients at the time of diagnosis [two developed mild mental motor retardation (MMR) and one developed severe MMR during the follow-up], one with a normal hearing threshold and two with mild hearing loss), and 14 symptomatic patients (three with normal hearing thresholds and 11 with mild hearing loss). Seven of the symptomatic patients diagnosed following an encephalopathic crisis required intensive care and showed significantly worse hearing thresholds than those without symptoms [20.86 ± 4.47 vs. 15.44 ± 3.96 decibel hearing level (dB HL), p = 0.039*], while five had mild-to-moderate hearing loss. Acute encephalopathic crisis had a negative effect on hearing function in the symptomatic patients. The emission and contralateral suppression amplitude values of the study group were significantly lower compared to the control group (p < 0.05). The I-V interpeak latency and absolute latencies of ABR waves I, III, and V of the study group were observed to be significantly prolonged and morphologically distorted compared to those of the control group (p < 0.05). Five patients had MMR, and three had moderate MMR; all eight had mild-to-moderate hearing loss. In addition, of the eight patients with mild MMR, four had mild hearing loss. In particular, the morphological findings of ABR waves were significantly worse in the patients with severe and moderate MMR (p < 0.05). There was a significant correlation between a macrocephaly history (12 patients) and hearing loss (p = 0.041*). Magnetic resonance imaging findings were evaluated in all the 17 patients with GA-1, and typical fronto-temporal atrophy and sylvian fissure enlargement were observed. Our findings support that GA-1 is associated with auditory impairment, primarily in symptomatic patients. Adequate audiological test battery evaluation is essential in this context, particularly for symptomatic patients with a history of encephalopathic crises.


Assuntos
Perda Auditiva , Audição , Erros Inatos do Metabolismo dos Aminoácidos , Audiometria de Tons Puros/métodos , Limiar Auditivo/fisiologia , Encefalopatias Metabólicas , Glutaril-CoA Desidrogenase/deficiência , Audição/fisiologia , Perda Auditiva/diagnóstico , Humanos
5.
Proc Natl Acad Sci U S A ; 116(4): 1347-1352, 2019 01 22.
Artigo em Inglês | MEDLINE | ID: mdl-30610177

RESUMO

We have identified a GRAP variant (c.311A>T; p.Gln104Leu) cosegregating with autosomal recessive nonsyndromic deafness in two unrelated families. GRAP encodes a member of the highly conserved growth factor receptor-bound protein 2 (GRB2)/Sem-5/drk family of proteins, which are involved in Ras signaling; however, the function of the growth factor receptor-bound protein 2 (GRB2)-related adaptor protein (GRAP) in the auditory system is not known. Here, we show that, in mouse, Grap is expressed in the inner ear and the protein localizes to the neuronal fibers innervating cochlear and utricular auditory hair cells. Downstream of receptor kinase (drk), the Drosophila homolog of human GRAP, is expressed in Johnston's organ (JO), the fly hearing organ, and the loss of drk in JO causes scolopidium abnormalities. drk mutant flies present deficits in negative geotaxis behavior, which can be suppressed by human wild-type but not mutant GRAP. Furthermore, drk specifically colocalizes with synapsin at synapses, suggesting a potential role of such adaptor proteins in regulating actin cytoskeleton dynamics in the nervous system. Our findings establish a causative link between GRAP mutation and nonsyndromic deafness and suggest a function of GRAP/drk in hearing.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Proteína Adaptadora GRB2/metabolismo , Perda Auditiva Neurossensorial/metabolismo , Sequência de Aminoácidos , Animais , Proteínas de Transporte/metabolismo , Surdez/microbiologia , Drosophila/metabolismo , Feminino , Humanos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Ligação Proteica/fisiologia , Transdução de Sinais/fisiologia
6.
Am J Otolaryngol ; 43(5): 103521, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35691053

RESUMO

OBJECTIVE: It is aimed to determine the therapeutic role of transcutaneous electrical nerve stimulation (TENS) on chronic subjective tinnitus with a randomized and comparative analysis. METHOD: 46 individuals with normal hearing, chronic subjective tinnitus, aged 20-65; randomly divided into the study (TENS therapy) and tje control groups. The control group (n = 23) was informed only about tinnitus, while the study group (n = 23) received TENS therapy (20 sessions in 4 weeks). Before TENS therapy, tinnitus-related evaluations of all participants [tinnitus frequency, loudness, minimum masking level (MMS), residual inhibition (RI)] were made and Tinnitus Handicap Inventory (THI), Visual Analogue Scale (VAS), Short Form 36 (SF-36), and The Quality of Life Scale were applied to the participants. These evaluations and questionnaires were repeated after 4 weeks of the therapy. RESULTS: There was a significant decrease in the tinnitus severity after TENS therapy in the study group (p = 0.003). Moreover, it was found that VAS (loudness and annoyance), THI (functional, emotional and total score), SF-36 (physical function, physical role, pain, general health, vitality, emotional role and social function) values improved compared to before TENS therapy and the difference was significant (p < 0.05). There was no significant difference between the first and last evaluations of the control group (p > 0.05). CONCLUSION: TENS is an effective, practical and reliable therapy method in reducing severity, loudness, and annoyance of tinnitus, and increasing the quality of life in individuals with chronic subjective tinnitus.


Assuntos
Zumbido , Estimulação Elétrica Nervosa Transcutânea , Audiometria , Humanos , Qualidade de Vida , Estimulação Elétrica Nervosa Transcutânea/métodos , Resultado do Tratamento , Escala Visual Analógica
7.
Mod Rheumatol ; 32(6): 1094-1101, 2022 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-34850918

RESUMO

OBJECTIVES: The aim of the present study was to evaluate hearing loss in patients diagnosed with systemic sclerosis (SSc) and to investigate the relation between hearing loss, subtypes of the disease, its duration and clinical findings, and antibody positivity. METHODS: The study included 47 patients with SSc and 44 healthy controls. Audiometric, tympanometric, and otoacoustic emission measurements were applied to both groups. RESULTS: The evaluation of the participants medical history showed that among the patients with SSc, 19.1% experienced ear fullness, 27.7% experienced vertigo, and 36.2% experienced tinnitus. Hearing loss was detected in 23.4% of the patients with SSc. The corresponding result was 4.3% in the control group with a statistically significant difference (p = 0.001). Transient-evoked otoacoustic emission amplitude values were significantly lower in the patients' both ears with SSc than the control group (p < 0.005). Duration of disease was significantly longer, and diffusing capacity of the lungs for carbon monoxide values were significantly higher in the patients with SSc and sensorineural hearing loss. CONCLUSIONS: The present study found that the incidence of hearing loss was significantly higher in the study group than in the healthy control group. In addition to other organ involvements, cochlear involvement occurs in these patients, and further studies are required.


Assuntos
Perda Auditiva , Escleroderma Sistêmico , Audiometria/efeitos adversos , Monóxido de Carbono , Perda Auditiva/diagnóstico , Perda Auditiva/etiologia , Humanos , Emissões Otoacústicas Espontâneas/fisiologia , Escleroderma Sistêmico/complicações
8.
Hum Genet ; 138(10): 1071-1075, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31175426

RESUMO

While the importance of tight junctions in hearing is well established, the role of Claudin- 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9 in a consanguineous family from Turkey with autosomal recessive nonsyndromic hearing loss. Three affected members of the family had sensorineural hearing loss (SNHL) ranging from moderate to profound in severity. The variant is predicted to cause a frameshift and produce a truncated protein (p.Leu29ArgfsTer4) in this single-exon gene. It is absent in public databases as well as in over 1000 Turkish individuals, and co-segregates with SNHL in the family. Our in vitro studies demonstrate that the mutant protein does not localize to cell membrane as demonstrated for the wild-type protein. Mice-lacking Cldn9 have been shown to develop SNHL. We conclude that CLDN9 is essential for proper audition in humans and its disruption leads to SNHL in humans.


Assuntos
Claudinas/genética , Surdez/diagnóstico , Surdez/genética , Genes Recessivos , Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Claudinas/química , Claudinas/metabolismo , Biologia Computacional/métodos , Análise Mutacional de DNA , Feminino , Mutação da Fase de Leitura , Humanos , Mutação , Linhagem , Polimorfismo Genético , Transporte Proteico , Turquia , Sequenciamento Completo do Genoma
9.
Clin Genet ; 96(6): 575-578, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31432506

RESUMO

Auditory reception relies on the perception of mechanical stimuli by stereocilia and its conversion to electrochemical signal. Mechanosensory stereocilia are abundant in actin, which provides them with structural conformity necessary for perception of auditory stimuli. Out of three major classes of actin-bundling proteins, plastin 1 encoded by PLS1, is highly expressed in stereocilia and is necessary for their regular maintenance. A missense PLS1 variant associated with autosomal dominant hearing loss (HL) in a small family has recently been reported. Here, we present another PLS1 missense variant, c.805G > A (p.E269K), in a Turkish family with autosomal dominant non-syndromic HL confirming the causative role of PLS1 mutations in HL. We propose that HL due to the p.E269K variant is from the loss of a stable PLS1-ACTB interaction.


Assuntos
Genes Dominantes , Perda Auditiva/genética , Glicoproteínas de Membrana/genética , Proteínas dos Microfilamentos/genética , Mutação/genética , Sequência de Aminoácidos , Sequência de Bases , Família , Feminino , Humanos , Masculino , Glicoproteínas de Membrana/química , Proteínas dos Microfilamentos/química , Proteínas Mutantes/química , Linhagem , Turquia
10.
Proc Natl Acad Sci U S A ; 113(21): 5993-8, 2016 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-27162350

RESUMO

Hair cells of the inner ear, the mechanosensory receptors, convert sound waves into neural signals that are passed to the brain via the auditory nerve. Little is known about the molecular mechanisms that govern the development of hair cell-neuronal connections. We ascertained a family with autosomal recessive deafness associated with a common cavity inner ear malformation and auditory neuropathy. Via whole-exome sequencing, we identified a variant (c.2207G>C, p.R736T) in ROR1 (receptor tyrosine kinase-like orphan receptor 1), cosegregating with deafness in the family and absent in ethnicity-matched controls. ROR1 is a tyrosine kinase-like receptor localized at the plasma membrane. At the cellular level, the mutation prevents the protein from reaching the cellular membrane. In the presence of WNT5A, a known ROR1 ligand, the mutated ROR1 fails to activate NF-κB. Ror1 is expressed in the inner ear during development at embryonic and postnatal stages. We demonstrate that Ror1 mutant mice are severely deaf, with preserved otoacoustic emissions. Anatomically, mutant mice display malformed cochleae. Axons of spiral ganglion neurons show fasciculation defects. Type I neurons show impaired synapses with inner hair cells, and type II neurons display aberrant projections through the cochlear sensory epithelium. We conclude that Ror1 is crucial for spiral ganglion neurons to innervate auditory hair cells. Impairment of ROR1 function largely affects development of the inner ear and hearing in humans and mice.


Assuntos
Células Ciliadas Auditivas/metabolismo , Perda Auditiva Neurossensorial/metabolismo , Mutação , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase/metabolismo , Gânglio Espiral da Cóclea/metabolismo , Animais , Axônios/metabolismo , Axônios/patologia , Linhagem Celular , Células Ciliadas Auditivas/patologia , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/patologia , Humanos , Camundongos , Camundongos Mutantes , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase/genética , Gânglio Espiral da Cóclea/patologia , Proteína Wnt-5a/genética , Proteína Wnt-5a/metabolismo
11.
Proc Natl Acad Sci U S A ; 111(27): 9864-8, 2014 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-24958875

RESUMO

In a large consanguineous Turkish kindred with recessive nonsyndromic, prelingual, profound hearing loss, we identified in the gene FAM65B (MIM611410) a splice site mutation (c.102-1G>A) that perfectly cosegregates with the phenotype in the family. The mutation leads to exon skipping and deletion of 52-amino acid residues of a PX membrane localization domain. FAM65B is known to be involved in myotube formation and in regulation of cell adhesion, polarization, and migration. We show that wild-type Fam65b is expressed during embryonic and postnatal development stages in murine cochlea, and that the protein localizes to the plasma membranes of the stereocilia of inner and outer hair cells of the inner ear. The wild-type protein targets the plasma membrane, whereas the mutant protein accumulates in cytoplasmic inclusion bodies and does not reach the membrane. In zebrafish, knockdown of fam65b leads to significant reduction of numbers of saccular hair cells and neuromasts and to hearing loss. We conclude that FAM65B is a plasma membrane-associated protein of hair cell stereocilia that is essential for hearing.


Assuntos
Audição/fisiologia , Proteínas/fisiologia , Estereocílios/fisiologia , Animais , Moléculas de Adesão Celular , Modelos Animais de Doenças , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Técnicas de Silenciamento de Genes , Audição/genética , Perda Auditiva Neurossensorial/genética , Humanos , Masculino , Camundongos , Linhagem , Proteínas/genética , Proteínas/metabolismo , Splicing de RNA , Frações Subcelulares/metabolismo , Turquia , Peixe-Zebra
12.
Genet Med ; 18(4): 364-71, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26226137

RESUMO

PURPOSE: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES). METHODS: After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes. RESULTS: We detected ARNSD-causing variants in 90 (56%) families, 54% of which had not been previously reported. Identified mutations were located in 31 known ARNSD genes. The most common genes with mutations were MYO15A (13%), MYO7A (11%), SLC26A4 (10%), TMPRSS3 (9%), TMC1 (8%), ILDR1 (6%), and CDH23 (4%). Nine mutations were detected in multiple families with shared haplotypes, suggesting founder effects. CONCLUSION: We report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56% of the families. In the remaining families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.Genet Med 18 4, 364-371.


Assuntos
Surdez/diagnóstico , Surdez/genética , Exoma , Genes Recessivos , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Estudos de Coortes , Etnicidade/genética , Genótipo , Humanos , Mutação
13.
Am J Hum Genet ; 91(5): 872-82, 2012 11 02.
Artigo em Inglês | MEDLINE | ID: mdl-23122586

RESUMO

Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs(∗)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Arg183(∗)) and c.5238+5G>A, in a nonconsanguineous family with moderate nonsyndromic sensorineural hearing loss. OTOGL maps to the DFNB84 locus at 12q21.31 and encodes otogelin-like, which has structural similarities to the epithelial-secreted mucin protein family. We demonstrate that Otogl is expressed in the inner ear of vertebrates with a transcription level that is high in embryonic, lower in neonatal, and much lower in adult stages. Otogelin-like is localized to the acellular membranes of the cochlea and the vestibular system and to a variety of inner ear cells located underneath these membranes. Knocking down of otogl with morpholinos in zebrafish leads to sensorineural hearing loss and anatomical changes in the inner ear, supporting that otogelin-like is essential for normal inner ear function. We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss.


Assuntos
Perda Auditiva Neurossensorial/genética , Proteínas de Membrana/genética , Mutação , Adolescente , Animais , Pré-Escolar , Aberrações Cromossômicas , Cóclea/metabolismo , Cóclea/patologia , Exoma , Perfilação da Expressão Gênica , Técnicas de Silenciamento de Genes , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Mutação INDEL , Masculino , Camundongos , Polimorfismo de Nucleotídeo Único , Ratos , Peixe-Zebra
14.
J Voice ; 2024 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-38714439

RESUMO

OBJECTIVES: A comprehensive evaluation is necessary for voice-related complaints, as it can benefit both the patient and physician in busy clinical settings. This study aimed to examine the Turkish adaptation of the Glottal Function Index (GFI-T), which can be quickly administered. STUDY DESIGNS: Phase 1 methodological, phase 2 prospective cohort. METHODS: This study was conducted in two phases. Firstly, the GFI was translated into Turkish, and its content validity was examined. The GFI-T was administered to 40 participants with voice disorders (M=41.3, SD=10) in the study group and 40 participants without voice disorders (M=37.5, SD=11.3) in the control group. Then GFI-T was readministered 2weeks later. The collected data were used for structural and convergent validity [correlation with Turkish version of the Voice Handicap Index-10 (VHI-10)], internal consistency, and test-retest reliability analyses. Secondly, 24 participants with vocal nodules were recruited separately from the first phase and were randomly divided into three groups. The first group underwent lax-vox therapy+vocal hygiene, the second group underwent resonance therapy+vocal hygiene, and the third group was provided only with vocal hygiene recommendations. The discriminative ability and construct validity of the GFI-T were examined by comparing pre- and post-assessments. RESULTS: The results indicated that the content validity indexes were 0.98 in the experts and 0.99 in the participants. Confirmatory factor analysis of the scale confirmed that a single-factor structure and goodness-of-fit indices were suitable. The GFI-T correlated 0.92 with the Turkish version of the VHI-10. The internal consistency was 0.96, and the test-retest value was 0.99. Significant differences (P < 0.001) and correlations with the Turkish version of VHI-10 were found in intragroup comparisons. CONCLUSIONS: The GFI-T is a reliable and valid tool for the self-assessment of voice disorders. The adaptation of this study to the pediatric population is recommended.

15.
Int J Pediatr Otorhinolaryngol ; 177: 111864, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38237356

RESUMO

OBJECTIVE: In this study, it was aimed to compare parents of children with hearing impairment (with cochlear implant (CI) or hearing aid) and parents of children with normal hearing (NH) in terms of care burden, self-efficacy and psychological resilience levels. METHODS: The study participants were parents of children aged 3-12 years. Zarit Care Burden Scale (ZCBS), Parental Self-Efficacy Scale (PSES) and Brief Psychological Resilience Scale (BPRS) were administered to the parents. RESULTS: The mean BPRS score was statistically significantly higher for the NH group than for the hearing impairment groups. It was found that the mean ZCBS score was statistically significantly higher for CI group than for the other groups (p < 0.05). A statistically significant and positive correlation was found between the PSES and BPRS scores of the CI group. CONCLUSION: It is thought that the results of this study will contribute to the creation of case-specific intervention/rehabilitation programs.


Assuntos
Implante Coclear , Implantes Cocleares , Auxiliares de Audição , Perda Auditiva , Criança , Humanos , Perda Auditiva/psicologia , Implante Coclear/métodos , Pais
16.
Am J Hum Genet ; 86(5): 797-804, 2010 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-20451170

RESUMO

More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during the past decade, the majority of deafness genes are yet to be identified. In this study, we mapped a previously unknown autosomal-recessive nonsyndromic sensorineural hearing loss locus (DFNB91) to chromosome 6p25 in a consanguineous Turkish family. The degree of hearing loss was moderate to severe in affected individuals. We subsequently identified a nonsense mutation (p.E245X) in SERPINB6, which is located within the linkage interval for DFNB91 and encodes for an intracellular protease inhibitor. The p.E245X mutation cosegregated in the family as a completely penetrant autosomal-recessive trait and was absent in 300 Turkish controls. The mRNA expression of SERPINB6 was reduced and production of protein was absent in the peripheral leukocytes of homozygotes, suggesting that the hearing loss is due to loss of function of SERPINB6. We also demonstrated that SERPINB6 was expressed primarily in the inner ear hair cells. We propose that SERPINB6 plays an important role in the inner ear in the protection against leakage of lysosomal content during stress and that loss of this protection results in cell death and sensorineural hearing loss.


Assuntos
Códon sem Sentido , Perda Auditiva Neurossensorial/genética , Perda Auditiva/genética , Mutação , Serpinas/genética , Consanguinidade , Família , Hereditariedade , Homozigoto , Humanos
17.
Auris Nasus Larynx ; 50(1): 40-47, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35568580

RESUMO

OBJECTIVE: Subjective tinnitus is defined as the perception of irregular sound at different frequencies. Although the underlying cause of tinnitus is unclear, increased body weight is known to increase tinnitus symptoms. The present study aimed to determine the effects of dietary and physical activity interventions on tinnitus symptoms. METHODS: Sixty-three obese subjects with tinnitus aged 20 to 65 years were divided into diet + physical activity (P.A.) (n = 15), diet (n = 16), P.A. (n = 15), and control (n = 17) groups. Dietary records, anthropometric measurements, Tinnitus Handicap Inventory (THI), Beck Depression Inventory (BDI), Short-Form Health Survey (SF-36), and Visual Analogue Scale (VAS) of all individuals were recorded and compared at the baseline and at study completion. RESULTS: Body weight decreased in the diet + P.A. (-5.9 (3.5) kg), diet (-3.4 (0.9) kg), and P.A. (-2.0 (2.1) kg) groups compared to the baseline (p < 0.05). There was a more significant decrease in tinnitus frequency, tinnitus severity, and VAS scores in individuals with a weight loss of ≥ 5.0% than in those with < 5.0% (p < 0.05). A decrease of 1 kg/m2 in BMI decreased the BDI score by 0.485 units and the THI score by 0.523 units. Step counts were increased in the diet + P.A. (3562.3±739.9) and P.A. (3797.1 ± 1801.1) groups compared to baseline (p < 0.01). Each increase of 1000 steps increased the SF-36 score by 1.592 units and decreased the THI score by 0.750 units (p < 0.05). CONCLUSION: Dietary and physical activity interventions, alone or in combination, alleviated tinnitus symptoms and increased quality of life in individuals with tinnitus. Due to its contribution to obesity prevention and positive effects on tinnitus, organizing dietary and physical activity programs for obese individuals with tinnitus would improve these individuals' quality of life.


Assuntos
Zumbido , Humanos , Peso Corporal , Dieta , Exercício Físico , Obesidade/complicações , Qualidade de Vida , Zumbido/terapia , Zumbido/diagnóstico , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso
18.
Acta Otolaryngol ; 143(11-12): 965-970, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38197860

RESUMO

BACKGROUND: The increase in screen time and the decrease in physical- activity cause balance problems as well as many systemic handicaps. AIMS/OBJECTIVES: This study aimed to determine the effect of screen time on balance and the effect of headphone usage time on hearing. METHOD: Thirty-four individuals aged 6-16 years who applied to our clinic with complaints of dizziness and/or balance disorder were included in the study. Participants were divided into 2 groups according to their screen time: Group 1 (4-8 h/day) and Group2(>8 h/day). The other two groups are grouped according to headphone usage time as Group A (2-4 h/day) and Group B (>4hours/day). Pure-tone audiometry, extended high frequency-audiometry, Videonystagmography (VNG) and Computerized Dynamic Posturography (CDP) tests and Pediatric Berg Balance Scale and Visual Analogue Scale were applied to all individuals. CDP scores and pure tone hearing thresholds between groups were compared. RESULTS: A significant difference was observed between Group 1 and Group 2 according to the CDP test (visual, vestibular and composite scores), and according to the VAS-dizziness and PBS (p ≤ .05). Pure tone average and pure tone thresholds at high frequencies were compared between Group A and Group B according to headphone usage time. Pure tone thresholds of Group B were worse at high frequencies than Group A (p ≤ .05). CONCLUSIONS: It has been observed that prolonged screen time may cause balance impairment in children and prolonged use of headphones may affect high-frequency hearing thresholds.


Assuntos
Tontura , Tempo de Tela , Humanos , Criança , Tontura/diagnóstico , Tontura/etiologia , Audição , Vertigem , Audiometria de Tons Puros , Limiar Auditivo
19.
Otol Neurotol ; 44(8): e596-e601, 2023 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-37550882

RESUMO

OBJECTIVE: This study aims to investigate the effect of TRV chair on residual dizziness (RD) after idiopathic posterior semicircular canal benign paroxysmal positional vertigo (BPPV) successfully treated with canalith repositioning maneuver (CRM). STUDY DESIGN: Prospective case-control study. SETTING: Hospital. PATIENTS: Thirty-three patients with posterior canal BPPV were included in the study. These patients were divided into two identical groups. CRM was applied to the first group with a TRV chair (TRV group) and manually to the second group (manual group). INTERVENTIONS: Dizziness Handicap Inventory (DHI), Beck Anxiety Inventory (BAI), and video head impulse test were applied to the patients. Patients in both groups were asked to report the RD developed after successful CRM daily by visual analog scale (VAS). RESULTS: The TRV group's first-day RD rate was 94.1% with VAS, and the RD duration was 2.47 ± 1.77 (0-7) days. The manual group's first-day RD rate was 100%, and the RD duration was 3.38 ± 1.70 (1-7) days. There was no difference between the groups in terms of RD duration ( p > 0.05). Mean RD severity and severity in the first 3 days were lower in the TRV group compared with the manual group ( p < 0.05). There was no difference between the groups on other days ( p > 0.05). In addition, there was a positive correlation between RD and DHI and BPPV duration ( p < 0.05). CONCLUSION: RD is a multifactorial symptom associated with how the repositioning maneuver is performed, BPPV duration, and DHI. Performing the repositioning maneuver with the TRV chair can reduce the severity of RD.


Assuntos
Vertigem Posicional Paroxística Benigna , Tontura , Humanos , Vertigem Posicional Paroxística Benigna/terapia , Vertigem Posicional Paroxística Benigna/complicações , Tontura/terapia , Tontura/complicações , Estudos de Casos e Controles , Posicionamento do Paciente , Canais Semicirculares
20.
J Am Acad Audiol ; 2023 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-37989231

RESUMO

BACKGROUND: In literature, the cognitive performance results of normal hearing individuals with tinnitus are inconsistent. It also differs in the control of other factors that may affect cognition. PURPOSE: This study aimed to determine the differences in attention and memory performance between normal-hearing individuals with chronic subjective tinnitus and age-sex-education-matched healthy controls. STUDY SAMPLE: Normal-hearing individuals with subjective chronic tinnitus between 18-55 years of age, who have normal cognitive abilities [tinnitus group, n=30] and age-sex matched normal hearing individuals without tinnitus who have normal cognitive abilities [control group, n=30] were included in this study. DATA COLLECTION: The Montreal Cognitive Assessment Test (MoCA-TR) measured participants' general cognitive screening, and depressive symptoms were measured by Beck Depression Inventory (BDI). Tinnitus Handicap Inventory (THI) was used to determine the tinnitus handicap levels. Attention performance was evaluated with Stroop Test-TBAG Form, and short-term and working memory performances were evaluated with the Wechsler Adult Intelligence Scale-Revised (WAIS-R)-Digit Span Test. RESULTS: The tinnitus and control groups' depressive symptom scores were similar concerning the BDI (p=0.90). There was no statistically significant difference between both groups according to the completion time of the five sections of the Stroop Test, the number of errors and corrections of the Stroop 5 test, and the (WAIS-R)-Digit Span Test scores (p>0.05). CONCLUSIONS: In our study, the Stroop Test and Digit Span Test performances of individuals with tinnitus and normal hearing were similar to the control group. Despite previous studies claiming an effect of tinnitus on cognition, our contrary findings are discussed in the light of other demographic, audiological, and psychological measurement variables, especially hearing loss.

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