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Background: One of the complications of sickle cell disease (SCD) is hearing loss. The purpose of the present study is to determine the prevalence of hearing loss in SCD. Materials and Methods: This is a descriptive-analytical cross-sectional study conducted on 100 patients with SCD in 2019-2020. All the patients underwent otololaryngological examination and audiometric tests to assess their hearing status. The type and severity of hearing loss were determined, the demographic information of the patients was recorded, and the data were analyzed using the SPSS software version 21, a Chi-square test, and the Kruskal-Wallis test. The P-values of < 0.05 were considered statistically significant. Results: The mean age of the patients was 17.6 ± 10.8 years. Of them, 60% were male. Hearing loss was diagnosed in 26 patients (26%), 16 of whom had sensorineural hearing loss (SNHL) and 10 had conductive hearing loss (CHL). In terms of the disease severity, 12, 10, 3 and 1 patients had mild, moderate, severe and profound hearing loss, respectively. The mean age of the patients with SNHL was significantly higher than the median age of the subjects with CHL (p-value = 0.043). Also, the patients with hearing loss had no statistically significant difference in terms of the variables of age, gender, unilateral or bilateral ear involvement and type of SCD (p-value = 0.069). Conclusion: This study revealed a hearing loss frequency of 26% among patients with SCD. Regular hearing assessment and timely treatment and rehabilitation measures are recommended for these patients. [ABSTRACT FROM AUTHOR]

Background and Aim: Hearing handicap, as one of the common health problems among older people, affects life activities. The Hearing Handicap Questionnaire (HHQ) is one of the scales that provide criteria for social withdrawal, participation restriction, and emotional distress. The present study aims to translate the HHQ into Persian and determine its psychometric properties. Methods: After translation into Persian, the content validity of the questionnaire was determined based on the Lawashe's method. Then, the Persian HHQ (P-HHQ) and the Persian Hearing Handicap Inventory for Elderly-Screening version (P-HHIE-S) were completed by 110 hearing-impaired seniors (49 females) over 60 years. The concurrent validity was determined by Spearman correlation test, and the discriminant validity was analyzed by Kruskal-Wallis test and independent t-test. The test-retest reliability was assessed in 47 subjects after two weeks by Spearman correlation test and paired t-test. Results: The P-HHQ had high face validity. The mean total score of P-HHQ was 1.89±1.05. It had a significant positive correlation with the score of P-HHIE-S (r=0.87) and pure tone average of the better ear (r=0.72). There was a significant difference between three groups of elderly with different degrees of hearing impairment (p<0.001). Cronbach's α values were in the range of 0.94-0.97. There was a strong correlation between test and retest scores of P-HHQ (r=0.97) which indicates a high test-retest reliability. Conclusion: The P-HHQ has acceptable validity and reliability and can be used as a suitable instrument to evaluate hearing handicap of the elderly in research studies and clinical settings. [ABSTRACT FROM AUTHOR]

Introduction: Childhood cancers are usually treated with chemotherapy and radiation. Therefore, understanding the late side effects of such treatments is important to improve the quality of life in childhood cancer survivors. The present study aimed to investigate the late complications of treatments in childhood cancer survivors. Methods: This study is a retrospective descriptive study. A total number of 93 cases were enrolled in this study. These cases had a history of childhood cancer documented in their medical records at the Shafa Hospital, Ahvaz, Iran. The age range was 5.9–21.3 years and included 62 males and 31 female patients. Results: Many of the patients at this hospital with childhood cancer had experienced chemotherapy side effects as well as late effects of cancer therapy. Hypothyroidism is a late complication of therapy in thoracic cancers and head/neck tumors with relative frequencies of 23.1% and 12.5%, respectively. Scoliosis was observed in the patients undergoing the ABVD + COPP and 8/1 regimens with relative frequencies of 4% and 50%, respectively. Lower growth percentiles were also late side effects of cancer therapy. The highest relative frequency of growth retardation was observed in the <5 age group (46.7%). Restrictive lung changes had an overall relative frequency of 6.5% in male patients with all types of tumors. Sensorineural hearing loss was observed in patients with leukemia and Hodgkin lymphoma with relative frequencies of 8.7% and 24.0, respectively. Conclusion: The occurrence of most side effects could be decreased through early diagnosis, dose adjustment of some drugs, and preventative measures. [ABSTRACT FROM AUTHOR]

Genetic analysis of non-syndromic hearing loss (NSHL) has been challenged due to marked clinical and genetic heterogeneity. Today, advanced next-generation sequencing (NGS) technologies, such as exome sequencing (ES), have drastically increased the efficacy of gene identification in heterogeneous Mendelian disorders. Here, we present the utility of ES and re-evaluate the phenotypic data for identifying candidate causal variants for previously unexplained progressive moderate to severe NSHL in an extended Iranian family. Using this method, we identified a known heterozygous nonsense variant in exon 26 of the DIAPH1 gene (MIM: 602121), which led to "Deafness, autosomal dominant 1, with or without thrombocytopenia; DFNA1" (MIM: 124900) in this large family in the absence of GJB2 disease-causing variants and also OtoSCOPE-negative results. To the best of our knowledge, this nonsense variant (NM_001079812.3):c.3610C > T (p.Arg1204Ter) is the first report of the DIAPH1 gene variant for autosomal dominant non-syndromic hearing loss (ADNSHL) in Iran. [ABSTRACT FROM AUTHOR]

Background Iron Deficiency Anemia (IDA) is the most common form of anemia. Understanding the relationship between IDA and hearing loss may provide new insights into managing hearing loss. Objective This study aimed to investigate the relationship between IDA and hearing loss in women aged 12-45 years referred to Amir Al-Momenin and Al-Zahra hospitals in Rasht City, Iran. Methods In this case-control study, 315 women aged 12-45 years with IDA and without IDA were included. Study groups were matched by age. The amount of hemoglobin (based on the last blood test in the past month) of the subjects was measured and recorded. IDA was considered when the hemoglobin level was less than 12 mg/dL. Audiometry was performed for all participants. Results In total, 169 individuals in the case group and 146 individuals in the control group participated in the study. The Mean±SD hemoglobin level in the case and control groups were 10.9±1.36 and 12.67±1.47 mg/dL, respectively. There were higher hearing thresholds in low and high frequencies among the case group than the controls (P=0.002 and P=0.032, respectively). Logistic regression analysis after age adjusting showed odds of abnormal Distortion Product Otoacoustic Emissions (DPOAE) in the frequencies of 750 Hz and 1000 Hz more than 2 times in women with IDA compared to controls (OR= 2.21, P= 0.006 and OR= 2.40, P= 0.020, respectively). Conclusion The study results showed a significant negative relationship between IDA and mean hearing threshold. Because of the high prevalence of IDA in women, this group may be at greater risk of hearing loss. [ABSTRACT FROM AUTHOR]

Background: The characteristics of Waardenburg syndrome (WS) as a scarce heritable disorder are sensorineural hearing loss and deficits of pigmentation in the skin, hair, and eye. Here, clinical features and detection of the mutation in the MITF gene of WS2 patients are reported in a sizable Iranian family. Methods: A man aged 28-years represented with symptoms of mild unilateral hearing loss (right ear), complete heterochromia iridis, premature graying prior to 30 years of age, and synophrys. In this research, there was a sizable family in Iran comprising three generations with seven WS patients and two healthy members. Whole exome sequencing was applied for proband for the identification of the candidate genetic mutations associated with the disease. The detected mutation in proband and investigated family members was validated by PCR-Sanger sequencing. Results: A novel heterozygous mutation, NM_198159.3:c.1026dup p.(Asn343Glufs*27), in exon 9 of the MITF gene co-segregated with WS2 in the affected family members. The variant was forecasted as a disease-causing variant by the Mutation Taster. According to the UniProt database, this variant has been located in basic helix-loop-helix (bHLH) domain of the protein with critical role in DNA binding. Conclusions: A frameshift was caused by a nucleotide insertion, c.1026dup, in exon 9 of the MITF gene. This mutation is able to induce an early termination, resulting in forming a truncated protein capable of affecting the normal function of the MITF protein. Helpful information is provided through an exactly described mutations involved in WS to clarify the molecular cause of clinical characteristics of WS and have a contribution to better genetic counseling of WS patients. [ABSTRACT FROM AUTHOR]

Introduction: Globally hearing impairment occurs in about 1 to 2 per 1000 live births. The etiology of severe sensorineural hearing loos (SNHL) is complex and multifactorial. Congenital inner ear abnormality is a major cause of hearing loss in children and cochlear implantation (CI) is a proper treatment in these children. Preoperative CT scan of the temporal bones are used to evaluate inner ear malformations in CI candidates. The frequency of internal ear malformations reported on temporal scan could varied from 20% to 30%. The aim of this study was to evaluate the frequency of inner ear malformations in CT scan of cochlear implant candidates . Methods: In a retrospective cross-sectional descriptive study, 201 infants (105 boys and 96 girls ) with the mean age of 20.5 ± 14.01 month with severe SNHL who are CI candidates were examined by temporal bone imaging with multislice CT from March 2014 to March 2015 in CI center of Tabriz University. Results : CT revealed abnormalities of the inner ear in 26 (13%) of infants that most of them with 10 (38.5%) was enlarged vestibular aqueduct (EVA). Also, 31 infants (15.4%) had abnormalities in outer, middle ear or in mastoid aeration. Conclusion: Temporal bone imaging with CT is an essential method and could be suggested as a proper first step for evaluating inner ear malformations in CI candidates. [ABSTRACT FROM AUTHOR]

Background: Osteopetrosis (OP) is a rare disease of the skeletal system that can be associated with complications such as bone fracture, nerve dysfunction and deafness due to increased bone density and reduced bone quality. In this regard and due to the challenge that it can cause for cochlear implantation (CI), in this study we aimed to report CI conducted on two patients with OP in Iran. The Case: Patients were two women diagnosed with OP and bilateral sensorineural hearing loss (SNHL) who underwent CI in the right ear. Preoperative PTA showed a hearing threshold decrease of more than 100 dB in both patients. A standard cochleostomy was performed in one patient and endoscopic surgery in the other patient through the external ear canal. One month after surgery, the hearing threshold improved by 60-90 dB in both patients. No facial nerve palsy or implant extrusion/migration was observed after surgery. Conclusion: Although technically challenging, CI seems to be a safe and effective method to improve the SNHL in patients with OP. The path for electrode insertion should be tailored to meet the conditions and anatomy of patients. [ABSTRACT FROM AUTHOR]

Objectives: One research aspect of stapes surgery is various materials that are used to seal the oval window. Several materials are used to seal the oval window, for example adipose tissue, perichondrium, vein graft, gelatin sponge (Gelfoam), blood clot and soft connective tissue. Up to now, there has been no randomised clinical trial that has evaluated the effects of different types of sealing material on hearing outcomes after stapedotomy. Hence, the present study aimed to find out which of these materials; fat or Gelfoam was associated with better hearing outcome, when used as a sealing material. Design: This prospective, double‐blind, randomised clinical trial was carried out on ears that had undergone stapedotomy. Setting: Dastgheib Hospital affiliated to Shiraz University of Medical Sciences, a referral otology centre in southern Iran. Participants: A total of 176 primary stapedotomies were analysed. Fat harvested from the ear lobule was used in 86 ears and Gelfoam in 90 ears. Main outcome measures: Preoperative and postoperative pure tone audiometric data and incidence of sensorineural hearing loss were evaluated. Results: Total of 90.7% of all ears in the fat group and 87.8% of ears in Gelfoam group achieved postoperative air‐bone gap (ABG) within 20 dB, and this difference was not significant. There was no case of sensorineural hearing loss (defined as 10 dB or more reduction in BC threshold) in both groups in mean frequencies of 0.5‐3 kHz. There were 9 cases of sensorineural hearing loss at 4 kHz in the fat group vs 4 in the Gelfoam group. The occurrence of sensorineural hearing loss in different frequencies was not significant between the two groups (P > 0.05). In addition, there was no case of dead ear in either group. Conclusions: We found similarity between hearing outcome in the Gelfoam and fat as sealing materials in stapedotomy. We believe that the first limitation of this study was the short‐term follow‐up in stapedotomy. The other issue is that one has to be cautious when using our result, which might not be applicable in larger fenestra stapedectomy. [ABSTRACT FROM AUTHOR]

Background: Sudden sensorineural hearing loss (SSNHL) causes the loss of hearing of 30 dB or greater on at least three contiguous frequencies. It is known to be a multifactorial disease which the exact cause is unknown, rendering it as an idiopathic disorder of patients. Aims/objectives: This study aims to shed further light on pathogenesis of this disease by studying the association between eNOS gene Glu298Asp polymorphism and VDR gene FokI polymorphism with SSNHL in Iranian population. Material and methods: This study involves a total of 77 cases and 100 controls, with patients inflicted with SSNHL categorized in case group and healthy subjects as control group. Genotyping of the VDR and eNOS genes was conducted by the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method. Results: Our results showed a statistically significant association between genotype frequencies of eNOS gene Glu298Asp polymorphism in case group compared to healthy individuals in the control group (p=.01). Also, TT genotype was significantly the most prevalent genotype in case group in comparison to control group (TT vs GT+GG, OR=3.5; 95% CI=1.18-11.79). On the other hand, analysis of VDR gene FokI polymorphism frequencies showed no statistically significant association with SSNHL. Conclusions and significance: Our findings showed a significant association between the eNOS gene Glu298Asp polymorphism and SSNHL in the Iranian population; and "TT" genotype might be considered as a risk factor for SSNHL. [ABSTRACT FROM AUTHOR]

Conclusion: There is a correlation between the AN/AD disorder and the saccular dysfunction in children with severe sensorineural hearing loss, which means that saccular dysfunction can be a concomitant sign of AN/AD. In conclusion, the term of audio-vestibular dys-synchrony (AVS) is a more suitable description for this condition. Objectives: Patients with auditory neuropathy/auditory dys-synchrony (AN/AD) characteristically demonstrate poor neural responses from the vestibulocochlear nerve and brainstem while displaying evidence of intact outer hair cells function. Therefore, the objective of this study is studying of the relationship of the saccular dysfunction with AN/AD disorder in children with sensorineural hearing loss. Methods: In this cross-sectional study, 100 children with bilateral severe-to-profound sensorineural hearing losses underwent audiologic tests and cervical vestibular-evoked myogenic potentials (cVEMPs) at the Audiology Department of Hamadan University of Medical Sciences (Hamadan, Iran). Results: Eleven children with bilateral severe sensorineural hearing loss were given to unilateral AN/AD disorder (11 ears), and two children (4 ears) had bilateral AN/AD (total = 13 children). The ears with AN/AD took the form of unrepeatable or absent waves of ABR and presence of OAEs. The statistical analysis of an independent t-test between AN/AD ears as compared to non-AN/AD ears of these 13 children showed that the mean latencies of p13 and the mean latencies of n23 and the mean peak-to-peak amplitude had significant differences. [ABSTRACT FROM AUTHOR]

Several lines of evidence suggest the role of the immune system in the pathogenesis of sudden sensorineural hearing loss (SSNHL). Macrophage migration inhibitory factor (MIF) mediates its role in various immune and inflammatory conditions by the regulation of immune reactions. Several studies have confirmed an association between MIF gene polymorphisms and susceptibility to various inflammatory and autoimmune disorders. The aim of this study was to explore the association between the MIF (-173 G/C) polymorphism (rs755622) and SSNHL in an Iranian population. In this case-control association study, SSNHL cases (n = 77) were included. Normal healthy subjects (n = 100) were also recruited from the same region. Genotyping for MIF (-173 G/C) polymorphism was carried out using the polymerase chain reaction-restriction fragment length polymorphism technique. The frequency of the MIF -173 C allele carriers (GC + CC genotype) was significantly elevated in SSNHL patients who responded to glucocorticoid treatment compared with the patients with no response to treatment. These results suggest that the MIF gene polymorphism is associated with a response to glucocorticoid treatment in patients with SSNHL. [ABSTRACT FROM AUTHOR]

GJB2 mutation analysis is used routinely as a first step in genetic testing for autosomal recessive non-syndromic sensorineural hearing loss. Although most GJB2 mutations can be detected by sequencing of the exon 2 of this gene, a prevalent splice mutation, c.−23+1G>A (IVS1+1G>A), is not usually included in the analyzed region. In this study, we have developed an ARMS-PCR strategy for detection of this mutation among Iranian deaf individuals. A total of 418 Iranian individuals with hearing loss consistent with autosomal recessive non-syndromic sensorineural hearing loss based on audiological test result, medical history, physical examination and pedigree of the family, were included in this study. c.35delG and c.−23+1G>A mutations were detected by using ARMS-PCR. Direct sequencing of the exon 2 of the GJB2 gene was performed for mutation analysis of the coding region of this gene. Among 418 investigated cases, a total of 81 patients (~19.4 %) with biallelic pathogenic mutations in the GJB2 gene and 13 cases with only one pathogenic mutant allele were identified. The total allele frequencies of the two most frequent mutations, c.35delG and c.−23+1G>A, among mutated alleles were found to be around 59 and 15.7 %, respectively. High frequency of the c.35delG and c.−23+1G>A mutations among Iranian deaf individuals shows the importance of developing rapid and cost-effective methods for primary mutation screening methods before performing direct sequencing. [ABSTRACT FROM AUTHOR]

Objective: The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region. The aim of this study was to determined frequency of sensory-neural hearing loss n major β- thalassemias transfusion dependent patients in south of Iran. Methods: A cross sectional study on 308 cases of major beta-thalassemia patients referring to Thalassemia Center of Shiraz University of Medical Sciences between 2006-2007 years. The diagnosis of β thalassemia major was based on clinical history, complete blood count and hemoglobine electrophoresis. Clinical data such as serum ferritin level, deferoxamine (DFO) dose, mean daily doses of DFO (mg/kg) and audiometric variables was recorded. Findings: Out of 308 cases 283 (96.5%) had normal hearing and 10 (3.5%) sensorineural hearing loss. There was no statically significant difference between two groups regarding mean age, weight, age at the first blood transfusion, age at the first DFO infusion. Conclusion: We found the lowest incidence of sensorineural hearing loss in a large population of patients suffered from major thalassemia who received DFO. We show that DFO is not ototoxic at a low dose. When considering all related literature, as a whole there has been much critical misrepresentation about DFO ototoxicity. [ABSTRACT FROM AUTHOR]

Abstract: Mutations in the GJB2 gene are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss (HL). A few mutations in GJB2 have also been reported to cause dominant nonsyndromic HL. Here we report a large inbred family including two individuals with nonsyndromic sensorineural hearing loss. A dominant GJB2 mutation, c.551G>A (p.R184Q), was detected in the proband, yet his parents were negative for the mutation. The second affected person had heterozygous c.35delG mutation, which was inherited from his father. Large deletions of the GJB6 gene were not detected in this family. This study highlights the importance of mutation analysis in all affected cases within a pedigree. [Copyright &y& Elsevier]

We report on a novel localization for a recessive form of deafness (DFNB), by linkage analysis in an Iranian consanguineous family. Affected individuals suffer from prelingual profound sensorineural hearing loss. Genome-wide analysis led to the characterization of a new locus, DFNB40, which maps to an ~9?Mb interval between markers D22S427 and D22S1144 at chromosome 22q11.21-12.1. Maximum lod score of 3.09 was obtained with D22S1174. Since the Bronx waltzer (bv) mouse mutant, characterized by waltzing behavior, deafness, and degeneration of cochlear inner hair cells, has been mapped to the syntenic region on murine chromosome 5, we suggest that DFNB40 and bv may result from orthologous gene defects.European Journal of Human Genetics (2003) 11, 816-818. doi:10.1038/sj.ejhg.5201045 [ABSTRACT FROM AUTHOR]