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1.
Indian J Otolaryngol Head Neck Surg ; 76(1): 508-513, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38440496

RESUMO

BACKGROUND: This study aims to evaluate speech production outcomes and auditory performance in children with post-meningitis deafness who were treated with cochlear implants. Additionally, the study assesses the impact of electrode insertion depth on surgical outcomes.". METHODS: We conducted a study on 66 pediatric patients with bilateral postmeningitis hearing loss who were being prepared for cochlear implantation at four tertiary referral academic institutions. The speech intelligibility rating (SIR) and categories of auditory performance (CAP) were evaluated after the first and second years following implantation. The patients were divided into two groups based on electrode insertion depth: one group had full electrode insertion (more than two-thirds), while the other had partial electrode insertion (less than two-thirds). We compared the SIR and CAP scores between the two groups to assess the impact of electrode insertion depth on outcomes. RESULTS: Before implantation, the median CAP score was one, but it improved significantly to six within two years after the procedure (P-value < 0.001). Similarly, the median SIR score before implantation was one, but it improved significantly to three within two years after surgery (P-value < 0.001). However, there was no significant difference between the partial and full electrode insertion groups in terms of CAP and SIR scores during the follow-up evaluations conducted after the first and second years. CONCLUSION: The study found that cochlear implantation significantly improved speech production skills and auditory performance in children with postmeningitis deafness. Importantly, the amount of electrode insertion at the time of implantation did not have a significant impact on the outcomes.

2.
Iran J Otorhinolaryngol ; 35(130): 247-253, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38090616

RESUMO

Introduction: The aim of this study was to investigate hearing outcome of stapes surgery, considering the post-operative air and bone conduction (AC&BC) changes, in a frequency specific approach. Materials and Methods: This was a retrospective cohort study. A total of 245 ears (231 patients), who underwent Stapedotomy at our tertiary referral center in a period of 5 years were enrolled in the study. Pure tone audiometry (PTA) was evaluated preoperatively and one month postoperatively. AC, BC, and Air-bone gap (ABG) were documented. Moreover, one-year post-op PTA was also recorded for more than a quarter of the cases. Results: Overall, significant improvements were observed in AC thresholds with a mean AC gain of 20.44±13.64 dB. At higher frequencies the results were poorer (AC gain of 27 dB at 250 Hz vs 7 dB at 8000 Hz). ABG significantly improved at all frequencies after one month. BC thresholds were typically better after surgery. However, there appears to be a worsening trend in BC thresholds at frequencies higher than 2000 Hz. In 68 patients with 1-year follow-up, BC thresholds were slightly worse (but not statistically significant) at most frequencies, in comparison to the one-month results. Conclusions: Stapes surgery significantly improves air and bone conduction hearing, particularly at lower frequencies. Nonetheless, there exists a potential for sensorineural hearing loss (SNHL) at high frequencies. However, the changes are insignificant and not within the speech frequencies. Therefore, patients are typically satisfied with the hearing outcome of the surgery.

3.
Eur Arch Otorhinolaryngol ; 280(12): 5319-5327, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37378728

RESUMO

OBJECTIVE: To determine the prognostic factors in the pediatric cochlear implant (CI) outcome. MATERIALS AND METHODS: This prospective cohort study was conducted on 289 pediatric cases with prelingual hearing loss who received cochlear implantation. Several possible salient factors have been recorded. Auditory and speech evaluations were performed before CI, as well as 6 and 12 months after surgery, using Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) tests. RESULTS: According to univariate analysis, age at the time of surgery was a statistically significant factor. Neurological problems in the child, history of newborn infectious diseases, history of hearing aid use, proper parental cooperation, and round window approach were all significantly related to better auditory or speech outcomes. On the other hand, good parental cooperation and age (for CAP) and good parental cooperation, age, history of infectious disease, and hearing aids use (for SIR) are the significant factors in the multivariate setting. CONCLUSION: As evidenced by the obtained results, age, background diseases, history of rehabilitation with hearing aids, and surgical details are essential factors to be taken into account in the case-selection process.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Percepção da Fala , Recém-Nascido , Criança , Humanos , Implante Coclear/métodos , Estudos Prospectivos , Prognóstico , Resultado do Tratamento , Surdez/cirurgia , Inteligibilidade da Fala
4.
Indian J Otolaryngol Head Neck Surg ; 75(Suppl 1): 568-573, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37206837

RESUMO

Sudden Sensory-Neural Hearing Loss (SSNHL) is one of the most important otologic emergency. Although adding intratympanic (IT) steroids to systematic steroid may be beneficial, the exact timing of the IT injections to provide the best response needs further investigations. To compare different protocols in treting sudden sensorineural hearing loss. We performed a clinical trial study on 120 patients from October 2021 to February 2022. All patients were prescribed 1 mg/Kg daily oral prednisolone. After randomization to three groups, the control group received standard twice a week IT steroid injections in 12 days (four total injections) while intervention groups 1 and 2 received once and twice a day IT injections for ten days. Audiometric study repeated 10-14 days after the last injection and assessed based on the Siegel criteria. We used the Chi-Square, Analysis of Variance (ANOVA), Kruskal-Wallis's tests where appropriate. The most clinical improvement was found in the standard treatment group, and group-2 had the greatest number of patients with no improvement; however, no overall significant difference was observed among the three groups (p-value: 0.066; Pearson Chi-Square). Less frequent IT injections in patients already on systemic steroids provide similar results to more frequent injections. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-023-03641-4.

5.
Int J Pediatr Otorhinolaryngol ; 167: 111495, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36868146

RESUMO

OBJECTIVES: Evidence suggests that Cochlear Implantation (CI) is a beneficial approach for auditory and speech skills improvement in children with severe to profound hearing loss. However, it remains controversial if implantation in children <12 months is safe and effective compared to older children. The present study aimed to determine whether children's ages affect surgical complications and auditory and speech development. METHODS: The current multicenter study enrolled 86 children who underwent CI surgery at <12 months of age (group A) and 362 children who underwent implantation between 12 and 24 months of age (group B). The Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores were determined pre-impanation, and "one-year" and "two-year" post-implantation. RESULTS: All children had full insertions of the electrode array. Four complications (overall rate: 4.65%; three minor) occurred in group A and 12 complications (overall rate: 4.41%; nine minor) occurred in group B. We found no statistically significant difference in the complication rates between the groups (p > 0.05). The mean SIR and CAP scores improved over time following CI activation in both groups. However, we did not find significant differences in CAP and SIR scores between the groups across different time points. CONCLUSION: Cochlear implantation in children younger than 12 months is a safe and efficient procedure, providing substantial auditory and speech benefits. Furthermore, rates and nature of minor and major complications in infants are similar to those of children undergoing the CI at an older age.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Percepção da Fala , Lactente , Criança , Humanos , Adolescente , Implante Coclear/efeitos adversos , Implante Coclear/métodos , Implantes Cocleares/efeitos adversos , Inteligibilidade da Fala/fisiologia , Percepção da Fala/fisiologia , Resultado do Tratamento , Surdez/cirurgia
6.
Indian J Otolaryngol Head Neck Surg ; 74(4): 582-587, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36514435

RESUMO

Aim: Otosclerosis is one of the common otologic diseases. The mechanism and the probable site of vestibular involvement are not yet fully understood. The present study aimed to perform a comprehensive vestibular evaluation in patients with otosclerosis, compared to the cases without otosclerosis. Materials and methods: patients underwent a comprehensive cochleovestibular evaluation, including audiometry, ocular and cervical vestibular evoked myogenic potential (o-VEMP and c-VEMP), video head impulse (vHIT) and caloric tests. The results were compared with those obtained from the non-otosclerosis control group. Results: A total of 61 individuals were included in the study who were divided into two groups of the case (50.82%) and control (49.18%). The results showed that there was a significant difference in the mean vHIT gain between the case and control groups (P < 0.05). However, the mean gain was still within the normal range. Besides, the patients with otosclerosis had significant bilateral or unilateral weaknesses according to caloric test results. Moreover, their o-VEMP and c-VEMP results were significantly abnormal as well (P < 0.05). Conclusion: Based on the results of the present study, the vestibular system even in asymptomatic cases, is affected by otosclerosis. Furthermore, it seems that the otolithic system has a higher chance of involvement, compared to the semicircular canals. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-022-03147-5.

7.
Otol Neurotol ; 43(8): 908-914, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-35970154

RESUMO

OBJECTIVE: This multicenter study aimed to evaluate the auditory and speech outcomes of cochlear implantation (CI) in deaf-blind patients compared with deaf-only patients. STUDY DESIGN: Retrospective cohort study. SETTING: Multiple cochlear implant centers. PATIENTS: The current study was conducted on 17 prelingual deaf-blind children and 12 postlingual deaf-blind adults who underwent CI surgery. As a control group, 17 prelingual deaf children and 12 postlingual deaf adults were selected. INTERVENTION: Cochlear implantation. MAIN OUTCOME MEASURES: Auditory and linguistic performances in children were assessed using the categories of auditory performance (CAP) and Speech Intelligibility Rating (SIR) scales, respectively. The word recognition score (WRS) was also used to measure speech perception ability in adults. The mean CAP, SIR, and WRS cores were compared between the deaf-only and deaf-blind groups before CI surgery and at "12 months" and "24 months" after device activation. Cohen's d was used for effect size estimation. RESULTS: We found no significant differences in the mean CAP and SIR scores between the deaf-blind and deaf-only children before the CI surgery. For both groups, SIR and CAP scores improved with increasing time after the device activation. The mean CAP scores in the deaf-only children were either equivalent or slightly higher than those of the deaf-blind children at "12 months post-CI" (3.94 ± 0.74 vs 3.24 ± 1.25; mean difference score, 0.706) and "24 months post-CI" (6.01 ± 0.79 vs 5.47 ± 1.06; mean difference score, 0.529) time intervals, but these differences were not statistically significant. The SIR scores in deaf-only implanted children were, on average, 0.870 scores greater than the deaf-blind children at "12 months post-CI" (2.94 ± 0.55 vs 2.07 ± 1.4; p = 0.01, d = 0.97) and, on average, 1.067 scores greater than deaf-blind children at "24 months post-CI" (4.35 ± 0.49 vs 3.29 ± 1.20; p = 0.002; d = 1.15) time intervals. We also found an improvement in WRS scores from the "preimplantation" to the "12-month post-CI" and "24-month post-CI" time intervals in both groups. Pairwise comparisons indicated that the mean WRS in the deaf-only adults was, on average, 10.61% better than deaf-blind implanted adults at "12 months post-CI" (62.33 ± 9.09% vs 51.71 ± 10.73%, p = 0.034, d = 1.06) and, on average, 15.81% better than deaf-blind adults at "24-months post-CI" (72.67 ± 8.66% vs 56.8 ± 9.78%, p = 0.002, d = 1.61) follow-ups. CONCLUSION: Cochlear implantation is a beneficial method for the rehabilitation of deaf-blind patients. Both deaf-blind and deaf-only implanted children revealed similar auditory performances. However, speech perception ability in deaf-blind patients was slightly lower than the deaf-only patients in both children and adults.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Percepção da Fala , Adulto , Criança , Implante Coclear/métodos , Surdez/reabilitação , Surdez/cirurgia , Humanos , Lactente , Estudos Retrospectivos , Inteligibilidade da Fala/fisiologia , Percepção da Fala/fisiologia , Resultado do Tratamento
8.
Orphanet J Rare Dis ; 17(1): 97, 2022 03 03.
Artigo em Inglês | MEDLINE | ID: mdl-35241111

RESUMO

BACKGROUND: Stickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a variety of genes cause STL, mainly inherited in an autosomal dominant fashion. Autosomal recessive STL is ultra-rare with only four families with biallelic COL9A3 variants reported to date. RESULTS: Here, we report three unrelated families clinically diagnosed with STL carrying different novel biallelic loss of function variants in COL9A3. Further, we have collected COL9A3 genotype-phenotype associations from the literature. CONCLUSION: Our report substantially expands the molecular genetics and clinical basis of autosomal recessive STL and provides an overview about allelic COL9A3 disorders.


Assuntos
Artrite , Colágeno Tipo IX , Doenças do Tecido Conjuntivo , Perda Auditiva Neurossensorial , Osteocondrodisplasias , Descolamento Retiniano , Artrite/diagnóstico , Artrite/genética , Colágeno Tipo IX/genética , Doenças do Tecido Conjuntivo/genética , Doenças do Tecido Conjuntivo/patologia , Genes Recessivos/genética , Perda Auditiva Neurossensorial/genética , Humanos , Mutação/genética , Osteocondrodisplasias/genética , Linhagem , Fenótipo , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/genética , Descolamento Retiniano/patologia
9.
Iran J Otorhinolaryngol ; 34(120): 9-16, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35145931

RESUMO

INTRODUCTION: Sudden sensorineural hearing loss (SSNHL) is a therapeutic challenge. There are several controversies regarding the management protocol of SSNHL. This study aimed to present the results of a novel treatment algorithm, which is a combination of systemic steroids and a tapering intratympanic (IT) dexamethasone regimen. MATERIALS AND METHODS: The past 10 years' medical records of idiopathic SSNHL cases in Ghaem and Emamreza hospital, Mashhad University of Medical Sciences were evaluated. Patients were assessed using standardized methods for pure-tone threshold audiometry. The management method of SSNHL treatment included oral steroids combined with IT administration of dexamethasone once a day for 7 days and continuing it on an alternate day and then weekly basis. Patients' recovery was assessed using Siegel's criteria. RESULTS: This study included a total of 248 cases of idiopathic sudden hearing loss, with a mean age of 40.63±16.19 years. In total, 105 (42.3%) and 143 (57.7%) patients were female and male, respectively. The most common associated symptoms included tinnitus (86.9%, n=205) followed by vertigo (52.1%, n=122). The final hearing outcome of patients showed that 39 (15.7%), 38(15.3%), 86 (34.7%), and 85 (34.3%) patients underwent a complete recovery, partial recovery, slight recovery, and no recovery, based on Siegel's criteria. CONCLUSIONS: The dose, interval, and duration of IT steroid treatment were not universally approved. The treatment method designed based on a tapering of IT steroid injection in combination with already known systemic administration of steroids can be a treatment option in SSNHL patients.

10.
Otolaryngol Head Neck Surg ; 166(1): 146-150, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-33755501

RESUMO

OBJECTIVES: Ménière's disease (MD) is a well-known inner ear disease; however, the etiopathogenesis is unknown. Several factors may be involved. Meanwhile, vitamin D is reported to have an important role in inner ear physiology. The aim of this study is to evaluate the relation between vitamin D deficiency and MD. STUDY DESIGN: This matched case-control study compared serum vitamin D levels between patients with definite MD and those without it. SETTING: The study was done between August 2018 and December 2019 at Ghaem University Hospital in Mashhad, Iran. METHODS: Twenty-eight patients with definite MD were matched with a group of 84 healthy individuals, regarding age, sex, body mass index, and occupation (indoor vs outdoor). The serum level of vitamin D (25-hydroxyvitamin D3) was measured in both groups. RESULTS: The mean ± SD vitamin D level was 18.9 ± 9.7 ng/mL in the case group and 25.2 ± 13.7 ng/mL in the control group (P = .027). There was a significant difference between the case and control groups according to the results of the conditional logistic regression model (P = .03; adjusted odds ratio, 0.96). In the MD group, 17 (60.7%) patients were vitamin D deficient, 6 (21.4%) insufficient, and only 5 (17.9%) sufficient. CONCLUSIONS: The results of this study show that serum vitamin D level in MD is significantly lower than that of the control group. However, the role of vitamin D supplementation in the management of MD needs further study. LEVEL OF EVIDENCE: 4.


Assuntos
Calcifediol/sangue , Doença de Meniere/sangue , Deficiência de Vitamina D/epidemiologia , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Razão de Chances , Deficiência de Vitamina D/diagnóstico
11.
Indian J Otolaryngol Head Neck Surg ; 74(Suppl 3): 4144-4149, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36742825

RESUMO

The goal of this study was to investigate the probable difference in auditory perception and speech intelligibility performance amongst cochlear implanted children who experienced hyperbilirubinemia or auditory neuropathy in comparison to the cochlear implanted children with unknown etiology for hearing loss. This case-control study was carried out on 106 cochlear implanted children with mean age of 32.36 ± 11.98 months who were purposively selected and allocated into four groups. Out of the total, 30 had no specific etiology for hearing loss, while the others had experienced auditory neuropathy or hyperbilirubinemia with/without blood exchange. The auditory perception and speech intelligibility performance of all the participants who had received auditory verbal therapy were assessed after 6 and 12 months of rehabilitation. Then, the data was analyzed, using the Statistical Package for Social Sciences-version 21(SPSS-21). Results indicated poor auditory perception and speech intelligibility performance of the cochlear implanted children with hyperbilirubinemia and blood exchange (P ≤ 0.05), while the participants in the control group with no specific etiology for hearing loss, the children with hyperbilirubinemia with no blood exchange, and those who suffered from auditory neuropathy performed better, respectively. Also, a significant correlation between auditory neuropathy and hyperbilirubinemia was observed. Despite lower improvement of auditory perception and speech intelligibility of the hearing impaired children who were experiencing moderate to severe degrees of hyperbilirubinemia or auditory neuropathy, cochlear implantation is highly recommended not only for children with unknown etiology for severe hearing loss but also for this group of hearing impaired children.

12.
Fetal Pediatr Pathol ; 40(2): 121-130, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31997689

RESUMO

BACKGROUND: Hearing loss (HL) is the most common sensory disorder in humans, which affects individuals in both inherited and acquired forms. MYO15A and MYO7A gene mutations have a significant role in the development of deafness. In this study, we assessed the prevalence of MYO15A and MYO7A mutations in one hundred non-relative deaf Iranians. Materials and methods: The existence of MYO15A and MYO7A mutations were assessed using the tetra-primer ARMS-PCR method, High Resolution Melting (HRM) and sequencing method. Results: A heterozygote missense mutation, p.V2135L (c.6403G > T) in the MYO15A gene, was found in a patient using the sequencing method. Conclusion: These results explain the negligible prevalence of selected mutations among Iranian patients. Identifying common mutations in patients of an ethnic group can reduce the financial costs and time needed for identifying the causes of deafness.


Assuntos
Surdez , Miosina VIIa/genética , Miosinas , Surdez/genética , Humanos , Irã (Geográfico) , Mutação , Miosinas/genética , Linhagem
13.
Cochlear Implants Int ; 21(5): 269-274, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32515300

RESUMO

Objective: The present study aimed to radiologically evaluate the visibility of round window during cochlear implantation by high-resolution computed tomography (HRCT) imaging of temporal bone. Study design: This was a cross-sectional descriptive analytic study. Methods: Two new radiologic measurements were evaluated on the presurgical HRCT of temporal bone, including (1) the angle between the line parallel to coronal axis that passes through the middle of the round window niche (RWN) and the line that connects the anterior portion of facial nerve (FN) to the middle of the RWN (RWN angle) and (2) the vertical distance between this coronal plane and the anterior portion of the FN, modified facial recess distance (MFRD). The measurements were then compared with the visibility of the round window (RW) during operation, as reported by the surgeon. Result: The present study compared the abovementioned CT scan findings of cochlear implanted children in visible (n = 21) and nearly invisible (n = 21) RW during surgery, as reported by the surgeon. The analysis revealed that both MFRD (P < 0.01) and RWN angle (P < 0.04) were significantly different between the two groups. Conclusion: the RWN angle and MFRD are fairly reliable predictors of round window visibility during cochlear implantation.


Assuntos
Implante Coclear , Janela da Cóclea/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Criança , Pré-Escolar , Estudos Transversais , Face/diagnóstico por imagem , Nervo Facial/diagnóstico por imagem , Feminino , Humanos , Lactente , Período Intraoperatório , Masculino , Valor Preditivo dos Testes , Período Pré-Operatório , Estudos Retrospectivos , Janela da Cóclea/cirurgia , Osso Temporal/diagnóstico por imagem
14.
Int J Pediatr Otorhinolaryngol ; 132: 109901, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32006863

RESUMO

OBJECTIVES: This multicenter study evaluated the auditory performance and speech production outcomes of cochlear implantation in children with inner ear anomaly and compared the outcomes of patients with different kinds of malformation. METHODS: Cochlear implantation was performed in 107 children with inner ear malformation at four tertiary academic centers. The categories of auditory performance (CAP) and speech intelligibility rating (SIR) scores were evaluated preoperatively and one year and two years postoperatively. RESULTS: Types of inner ear malformation and their frequencies were: incomplete partition type-I, 19 (17.8%) patients; incomplete partition type-II, 31 (29%), common cavity, 17 (15.9%), cochlear hypoplasia, 17 (15.9%), and isolated enlarged vestibular aqueduct (isolated EVA), 23 (21.5%) patients. EVA was the coexisting anomaly in 27(25.2%) subjects. The median CAP and SIR scores improved significantly during the first two years after cochlear implantation in all groups (p-values <0.001 and < 0.001, respectively). No significant difference was seen in CAP and SIR scores of children with different inner ear malformations (p-value = 0.147 and 0.570, respectively) or in patients with isolated EVA compared to coexisting EVA (p-value = 0.538 and 0.075, respectively). CONCLUSION: The median CAP and SIR scores two years after surgery were 5 (Understanding of common phrases without lip-reading) IQR: 4-6, and 3 (Connected speech is intelligible to a listener who concentrates and lip-reads within a known context) IQR: 3-4, respectively. Auditory performance and speech production were significantly improved in all inner ear malformation patient groups, and no significant difference was observed between the scores of patients with different types of anomaly.


Assuntos
Implante Coclear , Surdez/reabilitação , Orelha Interna/anormalidades , Inteligibilidade da Fala , Percepção da Fala , Percepção Auditiva , Criança , Pré-Escolar , Cóclea/anormalidades , Implantes Cocleares , Anormalidades Congênitas , Surdez/complicações , Feminino , Perda Auditiva Neurossensorial , Humanos , Lactente , Masculino , Estudos Retrospectivos , Aqueduto Vestibular/anormalidades
15.
Iran J Otorhinolaryngol ; 31(103): 115-118, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30989078

RESUMO

INTRODUCTION: Varicella-zoster virus may cause an infectious disease called Ramsay Hunt syndrome. The related symptoms include facial nerve palsy (FNP), otalgia, the vesicular eruptions of the auricle and external auditory canal, less common ocular movement disorder, facial hypoesthesia, myofascial pain, vestibular symptoms, hearing loss, dysphasia, vocal cord paralysis, as well as tongue paralysis due to cranial neuropathies. CASE REPORT: Herein, we presented the case of a 55-year-old man with left peripheral facial nerve palsy, profound hearing loss, and true vocal cord paralysis. The FNP recovered after 2 weeks and synkinesis totally improved after 4 weeks. CONCLUSION: Ramsay Hunt syndrome may present as cranial polyneuropathy; therefore, accurate history taking and physical examinations are necessary in this regard. The recovery rate of the vagus nerve is probably fair without polyneuropathy; however, it seems to be poor in cases suffering from polyneuropathy.

16.
BMC Med Genet ; 19(1): 81, 2018 05 18.
Artigo em Inglês | MEDLINE | ID: mdl-29776397

RESUMO

BACKGROUND: Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the S1PR2 gene have previously been linked to autosomal recessive hearing loss (DFNB68) in two Pakistani families. We describe a segregating novel homozygous c.323G>A, p.Arg108Gln pathogenic variant in S1PR2 that was identified in four affected individuals from a consanguineous five generation Iranian family. METHODS: Whole exome sequencing and bioinformatics analysis of 116 hearing loss-associated genes was performed in an affected individual from a five generation Iranian family. Segregation analysis and 3D protein modeling of the p.Arg108 exchange was performed. RESULTS: The two Pakistani families previously identified with S1PR2 pathogenic variants presented profound hearing loss that is also observed in the affected Iranian individuals described in the current study. Interestingly, we confirmed mixed hearing loss in one affected individual. 3D protein modeling suggests that the p.Arg108 position plays a key role in ligand receptor interaction, which is disturbed by the p.Arg108Gln change. CONCLUSION: In summary, we report the third overall mutation in S1PR2 and the first report outside the Pakistani population. Furthermore, we describe a novel variant that causes an amino acid exchange (p.Arg108Gln) in the same amino acid residue as one of the previously reported Pakistani families (p.Arg108Pro). This finding emphasizes the importance of the p.Arg108 amino acid in normal hearing and confirms and consolidates the role of S1PR2 in autosomal recessive hearing loss.


Assuntos
Substituição de Aminoácidos , Arginina/genética , Perda Auditiva/genética , Receptores de Lisoesfingolipídeo/genética , Adolescente , Consanguinidade , Feminino , Humanos , Irã (Geográfico) , Masculino , Modelos Moleculares , Linhagem , Ligação Proteica , Receptores de Lisoesfingolipídeo/química , Receptores de Lisoesfingolipídeo/metabolismo , Receptores de Esfingosina-1-Fosfato , Sequenciamento do Exoma/métodos
17.
Int J Pediatr Otorhinolaryngol ; 108: 12-16, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29605339

RESUMO

OBJECTIVES: To evaluate the auditory performance and speech production outcome in children with auditory neuropathy spectrum disorder (ANSD). The effect of age on the outcomes of the surgery at the time of implantation was also evaluated. METHODS: Cochlear implantation was performed in 136 children with bilateral severe-to- profound hearing loss due to ANSD, at four tertiary academic centers. The patients were divided into two groups based on the age at the time of implantation; Group I: Children ≤24 months, and Group II: subjects >24 months. The categories of auditory performance (CAP) and speech intelligibility rating (SIR) scores were evaluated after the first and second years of implantation. The differences between the CAP and SIR scores in the two groups were assessed. RESULTS: The median CAP scores improved significantly after the cochlear implantation in all the patients (p value < 0.001). The improvement in the CAP scores during the first year in Group II was greater than Group I (p value: 0.007), but the improvement in CAP scores tended to be significantly higher in patients who were implanted at ≤24 months (p value < 0.001). There was no significant difference between two groups in SIR scores at first-year and second-year follow-ups. The evaluation of the SIR improvement revealed significantly higher values for Group I during the second-year follow-up (p value: 0.003). CONCLUSION: The auditory performance and speech production skills of the children with ANSD improved significantly after cochlear implantation, and this improvement was affected by age at the time of implantation.


Assuntos
Implante Coclear/métodos , Perda Auditiva Bilateral/cirurgia , Perda Auditiva Central/cirurgia , Fatores Etários , Criança , Pré-Escolar , Implantes Cocleares , Feminino , Audição/fisiologia , Testes Auditivos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Inteligibilidade da Fala/fisiologia , Percepção da Fala/fisiologia , Medida da Produção da Fala , Resultado do Tratamento
18.
Curr Rheumatol Rev ; 14(1): 70-73, 2018 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-27804864

RESUMO

BACKGROUND: Sensorineural hearing loss (SNHL) and vestibular dysfunction have been described in various autoimmune disorders and systemic vasculitides. A high prevalence of SNHL is reported to occur in established rheumatologic diseases; however, immunologic and rheumatologic disorders make up a small proportion of patients with sudden sensorineural hearing loss (SSNHL). OBJECTIVES: This prospective study was carried out in order to determine the prevalence of rheumatologic and immunologic disorders in patients with SSNHL in Northeast Iran. METHODS: Patients with a diagnosis of SSNHL referred to our University Hospital were enrolled in this prospective study conducted over a period of 3 years. Immunology-rheumatology evaluations were performed in all patients, including detailed history, physical exams and laboratory tests such as erythrocyte sedimentation rate (ESR), antinuclear antibody (ANA), rheumatoid factor (RF), anti neutrophil cytoplasmic antibody (PR3, c-ANCA), perinuclear anti neutrophil cytoplasmic antibody (p-ANCA), antiphospholipid antibody, anti-cyclic citrullinated peptide (ACCP), and complement proteins C3 and C4. RESULTS: Eighty-three patients with a mean age of 42.04±16.94 years were admitted into the study. The female-to-male ratio was 47% to 53%. ANA was positive in one patient, RF in six, p-ANCA in two, ACCP in one, and antiphospholipid antibody was positive in three patients with low titers. No diagnosis of rheumatologic diseases was detected, except for one patient who was diagnosed with primary Sjögren's syndrome. Fewer than 5% all cases had specific positive immunologic tests. CONCLUSION: The low frequency of immunology-rheumatology positive tests and disorders in our patients with SSNHL indicates that it is not reasonable to routinely perform all related tests for every patient. Instead, clinical evaluations should be used to decide whether or not to conduct these tests.


Assuntos
Perda Auditiva Neurossensorial/complicações , Doenças do Sistema Imunitário/epidemiologia , Doenças Reumáticas/epidemiologia , Adulto , Idoso , Feminino , Perda Auditiva Súbita/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos
19.
Int J Pediatr Otorhinolaryngol ; 92: 103-107, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28012508

RESUMO

OBJECTIVE: Children with psychological disorders are prone to various unintentional injuries, one of the most common of which is foreign body inserting. In spite of the high incidence, the association is not studied yet. METHODS: This is a case control study in otorhinolaryngology and psychology departments, at a tertiary referral teaching hospital. One hundred five children (2-12 years old) who were referred for removal of foreign bodies in their ear or nose over a period of one year were selected for the study. Also, 155 children were selected and matched from the same community as the controls. Parents were given the standard strengths and difficulty questionnaire (SDQ) for psychological evaluation of their child. The total score and also the subscales for emotional symptoms, hyperactivity disorders, conduct problems, peer-relationship problemsand prosocialbehaviors were recorded and statistical analysis was performed. RESULTS: In the case group, 34 cases (%32.4) were suffering from foreign bodies in their ear, 70 cases (%66.7) in their nose, and just one case (%1) in both. Age and sex distributionin the two groups were comparable. There were significant differences of SDQ scores between the two groups in total score (p < 0.001), emotional symptoms (p < 0.001), hyperactivity disorders (p < 0.001), conduct problems (p < 0.001), and prosocial behaviors (p < 0.001). However peer-relationship problems showed no significant difference between the two groups (p = 0.161). CONCLUSION: Psychological problems are more common in children with foreign bodies than the controls. Thus physicians are recommended to consider referring these patients to the pediatric psychologist.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno da Conduta/epidemiologia , Orelha , Corpos Estranhos/epidemiologia , Nariz , Comportamento Problema , Comportamento Social , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Transtorno da Conduta/psicologia , Emoções , Feminino , Corpos Estranhos/psicologia , Humanos , Incidência , Relações Interpessoais , Irã (Geográfico)/epidemiologia , Masculino , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Otolaringologia , Pais , Grupo Associado , Inquéritos e Questionários
20.
Iran J Otorhinolaryngol ; 28(86): 189-95, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27429947

RESUMO

INTRODUCTION: Sudden sensorineural hearing-loss (SSNHL) patients constitute approximately 2-3% of referrals to ear, nose and throat (ENT) clinics. Several predisposing factors have been proposed for this condition; one of which is vascular disorders and perfusion compromise. In this research the atherosclerotic changes and their known risk factors are studied in SSNHL patients. MATERIALS AND METHODS: Thirty SSNHL patients and 30 controls were evaluated with regard to cardiovascular risks including history, heart examination, blood pressure, body mass index, waist circumference, electrocardiogram, blood sugar, triglycerides, cholesterol, high-sensitivity C-reactive protein (HSCRP); also, carotid artery color Doppler study was undertaken to measure intima media thickness(IMT). RESULTS: IMT and HSCRP showed an increased risk in the case group compared with the controls (P= 0.005 & P=0.001). However, waist circumference, history of smoking, fasting blood sugar, lipid profile, and electrocardiogram revealed no significant difference between the two groups. Interestingly, blood pressure and body mass index were higher in the controls in this study. CONCLUSION: Sudden sensorineural hearing loss may be associated with subclinical atherosclerosis.

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