The association between healthy eating index-2015 with anthropometric, cardiometabolic and hepatic indices among patients with non-alcoholic fatty liver disease.

BACKGROUND: Obesity, cardiovascular diseases, and metabolic disorders are common problems among participants with non-alcoholic fatty liver disease (NAFLD). However, the association between these problems and the healthy eating index-2015 (HEI-2015) remains unknown. Although the HEI-2015 originated from American dietary guidelines, its comprehensive evaluation of diet quality provides valuable insights for various populations, including Iranians. Therefore, the objective of this study was to investigate the association between anthropometric, hepatic, and cardio-metabolic indices with HEI-2015 scores in participants with NAFLD. METHODS: We conducted a cross-sectional analysis of data from the Hoveyzeh Cohort Study, which included adults aged 35 to 70 years between 2016 and 2018. A total of 664 participant with NAFLD (452 females and 212 males) were included in the analysis. The HEI-2015 was assessed using the Food Frequency Questionnaire (FFQ). Various indices, including the body shape index (ABSI), atherogenic index of plasma (AIP), visceral adiposity index (VAI), lipid accumulation product (LAP), cardiometabolic index (CMI), lipoprotein combine index (LCI), AST/ALT ratio, ALD/NAFLD index, and hepatic steatosis index (HSI), were calculated. RESULTS: No significant differences were observed in anthropometric, cardio-metabolic, and hepatic indices across the quartiles of HEI-2015. However, among participants with NAFLD, men had significantly higher AIP and LCI levels, while women had significantly higher BMI, ABSI, VAI, LAP, and CMI levels. Additionally, women with NAFLD exhibited higher AST/ALT and HSI levels but lower ALD/NAFLD levels compared to men with NAFLD. Linear regression analysis among men with NAFLD revealed a significant negative correlation between HEI-2015 score and HSI in both the unadjusted model (ß=-0.131, SE = 0.058, p = 0.024) and the adjusted model for energy intake (ß=-0.129, SE = 0.058, p = 0.028). CONCLUSION: The present study demonstrated a correlation between lower HEI-2015 scores and an increased risk of steatosis in men with NAFLD. Moreover, our findings highlighted gender-related differences in NAFLD and cardio-metabolic disorders.

Sleep duration and Framingham´s cardiovascular risk score: results from the Hoveyzeh Cohort Study (HCS).

BACKGROUND: Cardiovascular diseases (CVDs) are the leading causes of global deaths. So, it is necessary to know the possible risk factors for each region. We aimed to assess the relationship between the risk of CVDs and sleep duration in the Iranian Arab population. METHODS: In this cross-sectional study, data from 8362 participants aged between 35 and 70 from the Hoveyzeh Cohort Study enrollment phase between 2016 and 2018 was analyzed. This study evaluated the association between ten-year CVD risk using the Framingham risk score and sleep duration. Self-reported sleep duration was categorized as short duration (equal to or less than 5 h), standard duration (6-8 h), or prolonged duration (equal to or greater than 9 h). Multivariable logistic regression to adjust for conventional CVD risks was used. RESULTS: Among the assessed participants, 4892 (58.50%) were female, and the mean age was 47.93 (9.01). The average sleep duration was 7.59 (1.56) hours. The low, intermediate-to-high, and high CVD risk individuals were 6461 (77.27%), 1185 (14.17%), and 716 (8.56%), respectively. There was a significant relationship between prolonged sleep duration and lower odds of intermediate-to-high CVD risk in males (OR 0.66, 95% CI: 0.49-0.87, P-value: 0.004). CONCLUSION: The results of our study showed that longer sleep duration has a protective association with the intermediate to high risk of cardiovascular diseases in males. However, long and short sleep durations have no significant relationship with females' risk of cardiovascular disease.

Impact of modifiable risk factors on prediction of 10-year cardiovascular disease utilizing framingham risk score in Southwest Iran.

BACKGROUND: This cohort study was conducted to examine the association between modifiable risk factors, including hypertension, smoking, physical activity, diabetes, cholesterol, and high-density lipoprotein with Framingham risk score in the prediction of 10-year-risk of cardiovascular diseases (CVD) between men and women in an Arab community of Southwest Iran, Hoveyzeh. MATERIALS AND METHODS: A total of 8,526 people aged 35-70 participated in this cohort study. Framingham was used to estimate the 10-year risk of CVD. Also, the linear regression models were used to assess the relationship between modifiable risk factors and the 10-year risk of CVD. Finally, the area under the receiver operating characteristic curve (AUC) was used to measure the ability of modifiable risk factors to predict the 10-year risk of CVD. RESULTS: Our results of linear regression models showed that hypertension, smoking, PA, diabetes, cholesterol, and HDL were independently associated with the CVD risk in men and women. Also, AUC analysis showed that hypertension and diabetes have the largest AUC in men 0.841; 0.778 and in women 0.776; 0.715, respectively. However, physical activity had the highest AUC just in women 0.717. CONCLUSION: Hypertension and diabetes in both gender and physical activity in women are the most important determinant for the prediction of CVD risk in Hoveyzeh. Our cohort study may be useful for adopting strategies to reduce CVD progression through lifestyle changes.

Association between oral contraceptives with lipid profile: results from Hoveyzeh cohort study (HCS).

BACKGROUND: Oral contraceptives (OCs) affect lipid metabolism, which can cause hyperlipidemia, a risk factor for cardiovascular diseases. The study was designed to evaluate the possible changes in lipid profile due to using OCs. METHODS: A cross-sectional study was conducted from April 2016 to August 2018 among women from the baseline phase Hoveyzeh cohort study (HCS). Sociodemographic data, anthropometric measurements, physical activity, and biochemical blood tests were measured for every participant. Multiple logistic regression was used to adjust the potential confounders. RESULTS: Among 2272 participants, 1549 women were OC users, and 723 women were non-user OCs. The mean lipid profile levels were higher in OC users than in non-user OCs. Odds of abnormal Total cholesterol (TC) in OC users were significantly higher than those of non-users OCs [OR = 1.29 (95% CI;1.05 to 1.58)]. Also, the Odds of abnormal low-density lipoprotein (LDL) in OC users was 12% higher than in non-user OCs. However, no significant relationship between abnormal LDL with Oral Contraceptive Pills (OCPs) was observed. CONCLUSIONS: The mean lipid profile was higher in OC users compared to non-user OCs. This finding highlights the need for public health strategies to prevent and detect hyperlipidemia in user OCs.

Socioeconomic status and metabolic syndrome in Southwest Iran: results from Hoveyzeh Cohort Study (HCS).

BACKGROUND: Socioeconomic status (SES) strongly predicts morbidity and premature mortality, especially for non-communicable diseases (NCDs). However, the effect of these factors on Metabolic Syndrome (MetS) is not clear yet. This study was conducted to assess the relationship between socioeconomic indicators and MetS. METHODS: In this prospective cohort study, 10,009 people aged 35-70 enrolled from May 2016 to August 2018. The MetS was defined according to The Standard National Cholesterol Education Program (NCEP)-adult treatment panel III (ATP III) or NCEP-ATP III criteria. Demographics and socioeconomic data were gathered face-to-face through trained interviews. Also, lab, anthropometrics, and blood pressure measurements were assayed for participants. Logistic regression was used to estimate the association between SES and MetS, adjusted for the potential confounding factors. RESULTS: The overall prevalence of MetS in the participants was 39.1%. The crude odds ratios were statistically significant for all the assessed variables (p < 0.05). After adjustment for age, sex, physical activity, smoking, and alcohol use as potential confounders, the results indicated significant direct independent associations between skill level (p = 0.006) and Townsend index (p = 0.002) with MetS. In contrast, no significant associations between educational level and wealth status with MetS. CONCLUSION: The results of our study showed that SES is related to MetS. Among the four assessed SES indicators, skilled levels and Townsend score are strongly associated with MetS. We recommend considering people's SES when interventional programs are planned and conducted on MetS in similar communities.

Prevalence of cardiovascular diseases and associated factors among adults from southwest Iran: Baseline data from Hoveyzeh Cohort Study.

BACKGROUND: Cardiovascular diseases (CVDs) were the number one cause of death in Iran. The main risk factors of CVDs include unhealthy lifestyles, insulin resistance, hypertension (HTN), and hyperlipidemia. Given that there are modifiable risk factors for CVDs, this cross-sectional study aimed to evaluate the prevalence of CVDs and their risk factors among adults. METHODS: The present cross-sectional study was conducted on 9828 adults 35-70 years (both sexes). The demographic data, lifestyle habits, anthropometric data, and clinical and biochemical parameters were collected from the baseline data of the Hoveyzeh Cohort Study. The odds ratio (OR) of CVDs was assessed by multivariable logistic regression. RESULTS: The prevalence of CVDs was higher in females than males (16.2 vs. 12.6, p ≤ 0.001). The prevalence of CVDs was related to age, gender, marital status, lifestyle, anthropometric measurements, cholesterol, high-density lipoprotein, HTN, and fasting plasma glucose (FPG) (p ≤ 0.05). The participants aged 65-70 y showed the highest odds of CVDs (OR: 3.97, 95% CI: (3.14, 5.01), (p ≤ 0.001)). Males (OR: 1.76, 95% CI: (1.51, 2.05), p ≤ 0.001), married status (OR: 1.63, 95% CI: (1.08, 2.47), p = 0.021), more using a mobile phone (OR: 1.26, 95% CI: (1.09, 1.46), p ≤ 0.002), and smoking cigarettes (OR: 1.44, 95% CI: (1.24, 1.68), p ≤ 0.001) associated with CVDs. Higher odds of CVDs were related to low physical activity (PA) (OR: 1.56, 95% CI: (1.34, 1.8), p ≤ 0.001), body mass index > 30 (OR: 1.68, 95% CI: (1.01, 2.8), p ≤ 0.047). Moreover, odds of CVDs were related to systolic blood pressure (SBP) ≥ 140 mm Hg (OR: 1.25, 95% CI: (1.04, 1.51), p = 0.017), FPG = 100-126 mg/dl (OR: 1.24, 95% CI: (1.07, 1.43), p = 0.003), and FPG > 126 mg/dl (OR: 1.71, 95% CI: (1.47, 1. 98), p ≤ 0.001). CONCLUSION: The present study showed the main risk factors of CVDs were older age, married status, using a mobile phone, low PA, smoking, obesity, and abnormal FPG and SBP. The lower odds of CVDs were found in the participants with normal cholesterol.

Seroprevalence of SARS-CoV-2 antibody among urban Iranian population: findings from the second large population-based cross-sectional study.

BACKGROUND: The first large serosurvey in Iran found a SARS-CoV-2 antibody seroprevalence of 17.1% among the general population in the first wave of the epidemic by April, 2020. The purpose of the current study was to assess the seroprevalence of COVID-19 infection among Iranian general population after the third wave of the disease. METHODS: This population-based cross-sectional study was conducted on 7411 individuals aged ≥10 years old in 16 cities across 15 provinces in Iran between January and March, 2021. We randomly sampled individuals registered in the Iranian electronic health record system based on their national identification numbers and invited them by telephone to a healthcare center for data collection. Presence of SARS-CoV-2-specific IgG and IgM antibodies was assessed using the SARS-CoV-2 ELISA kits. The participants were also asked about their recent COVID-19-related symptoms, including cough, fever, chills, sore throat, headache, dyspnea, diarrhea, anosmia, conjunctivitis, weakness, myalgia, arthralgia, altered level of consciousness, and chest pain. The seroprevalence was estimated after adjustment for population weighting and test performance. RESULTS: The overall population-weighted seroprevalence adjusted for test performance was 34.2% (95% CI 31.0-37.3), with an estimated 7,667,874 (95% CI 6,950,412-8,362,915) infected individuals from the 16 cities. The seroprevalence varied between the cities, from the highest estimate in Tabriz (39.2% [95% CI 33.0-45.5]) to the lowest estimate in Kerman (16.0% [95% CI 10.7-21.4]). In the 16 cities studied, 50.9% of the seropositive individuals did not report a history of symptoms suggestive of COVID-19, implying an estimation of 3,902,948 (95% CI 3,537,760-4,256,724) asymptomatic infected individuals. CONCLUSIONS: Nearly one in three individuals were exposed to SARS-CoV-2 in the studied cities by March 2021. The seroprevalence increased about two-fold between April, 2020, and March, 2021.

Socioeconomic inequalities in prevalence, awareness, treatment and control of hypertension: evidence from the PERSIAN cohort study.

BACKGROUND: Elevated blood pressure is associated with cardiovascular disease, stroke and chronic kidney disease. In this study, we examined the socioeconomic inequality and its related factors in prevalence, Awareness, Treatment and Control (ATC) of hypertension (HTN) in Iran. METHOD: The study used data from the recruitment phase of The Prospective Epidemiological Research Studies in IrAN (PERSIAN). A sample of 162,842 adults aged > = 35 years was analyzed. HTN was defined according to the Joint National Committee)JNC-7(. socioeconomic inequality was measured using concentration index (Cn) and curve. RESULTS: The mean age of participants was 49.38(SD = ± 9.14) years and 44.74% of the them were men. The prevalence of HTN in the total population was 22.3%(95% CI: 20.6%; 24.1%), and 18.8%(95% CI: 16.8%; 20.9%) and 25.2%(95% CI: 24.2%; 27.7%) in men and women, respectively. The percentage of awareness treatment and control among individuals with HTN were 77.5%(95% CI: 73.3%; 81.8%), 82.2%(95% CI: 70.2%; 81.6%) and 75.9%(95% CI: 70.2%; 81.6%), respectively. The Cn for prevalence of HTN was -0.084. Two factors, age (58.46%) and wealth (32.40%), contributed most to the socioeconomic inequality in the prevalence of HTN. CONCLUSION: The prevalence of HTN was higher among low-SES individuals, who also showed higher levels of awareness. However, treatment and control of HTN were more concentrated among those who had higher levels of SES, indicating that people at a higher risk of adverse event related to HTN (the low SES individuals) are not benefiting from the advantage of treatment and control of HTN. Such a gap between diagnosis (prevalence) and control (treatment and control) of HTN needs to be addressed by public health policymakers.

Auditory-Perceptual Evaluation of Vocal Characteristics in Patients with the New Coronavirus Disease 2019.

INTRODUCTION: Due to the upper and lower respiratory involvement in coronavirus disease 2019 (COVID-19), the voice quality of these patients is expected to be impaired. In this study, we aimed to conduct an auditory-perceptual evaluation of the vocal characteristics of patients with different severities of COVID-19. METHODS: One hundred two patients with mild, moderate, or severe COVID-19 as well as 30 healthy individuals were recruited to compare their respiratory/phonatory parameters. The Persian version of the CAPE-V and GRBAS scales, along with the maximum phonation time and s/z ratio values were used to evaluate the severity of respiratory/phonatory disorders during verbal tasks in the participants. RESULTS: Significant differences were found between the subgroups of patients and their healthy counterparts in all respiratory/phonatory parameters (p ≤ 0.03) except the s/z ratio (p = 0.81). CONCLUSIONS: Based on auditory-perceptual assessments, patients with COVID-19 showed dysphonia. The severity of dysphonia was significantly different among patients with different severities of COVID-19. Smoking can also play a significant role in vocal dysfunction in COVID-19 patients.

Cochlear implant failure following COVID 19: Report of two cases.

BACKGROUND: Hearing loss is a relatively newly reported symptom of novel strain of coronavirus (COVID-19). Cochlear implant is an effective therapeutic method for patients with severe to profound hearing loss. CASE REPORT: We describe two cochlear implanted children with the sole presenting symptom of a sudden speech perception problem. They not suspected to have COVID-19 until they showed respiratory symptoms on the first week of admission. CONCLUSION: The current report indicates the importance of COVID-19 screening in hearing impaired patients (including cochlear implanted recipients) presented with sudden or gradual deterioration of speech intelligibility during the pandemic.

The Comparison of Speech Intelligibility between the Cochlear Implanted and Normal-Hearing Children.

Background: Following the development of new hearing technologies, assessment of speech intelligibility in hearing-impaired children is of great interest. The main purpose of this study was to compare speech intelligibility and auditory perception abilities in children with normal-hearing (NH) and children with hearing aid (HA) and cochlear implant (CI). Methods: This analytic cross-sectional study consisted of 60 Persian-speaking children aged 5 to 7-years. Participants were classified into 3 groups of 20 people, including NH (mean age, 71.70±5.05 months), CI (mean age, 72.60±8.20 months), and HA (mean age, 71.45±10.56 months) children. The speech intelligibility rating (SIR) and categories of auditory performance (CAP) tests were conducted for all children to measure their speech intelligibility and auditory perception, respectively. A one-way analysis of variance (ANOVA) test was used to compare CAP and SIR scores among the 3 groups. Results: The mean SIR score in the NH children was significantly higher than the HA (p=0.002) and CI (p=0.009) groups. However, these differences between the HA and CI children were not significant (p=0.885). We found a significant difference between the CAP scores in the 3 groups (p=0.038). Furthermore, the post hoc analysis results indicated that the mean CAP scores in NH children were significantly higher than the HA and CI participants. Based on the results, the speech intelligibility and auditory performance abilities in NH children were significantly greater than the hearing-impaired (CI and HA) children. However, these abilities between HA and CI users were not significantly different. Conclusion: Based on the results, the early acoustical amplification on auditory and speech functions in children with hearing loss is of paramount importance.

The priority of audiological procedures during the COVID-19 pandemic.

Since the discovery of coronavirus disease 2019 (COVID-19), which started in Wuhan, China, the epidemic has not only swept through China but also spread throughout the world in spite of the concerted attempts from the governments to contain it. Thus, prevention and control of COVID-19 infection is very effective in ensuring the safety of medical specialists, health care workers, and patients. Audiology clinics are also crucial in the fight against the infection epidemic, as audiologists provide their diagnostic and rehabilitative services in an environment with different contaminated objects that come in either direct or indirect contact with multiple patients. The current article explains the importance of infection control in audiology and priority setting for audiologic evaluation in COVID-19 pandemic.

A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.

BACKGROUND AND AIMS: Hearing loss (HL) is the most common sensorineural disorder and one of the most common human defects. HL can be classified according to main criteria, including: the site (conductive, sensorineural and mixed), onset (pre-lingual and post-lingual), accompanying signs and symptoms (syndromic and non-syndromic), severity (mild, moderate, severe and profound) and mode of inheritance (Autosomal recessive, autosomal dominant, X-linked and mitochondrial). Autosomal recessive non-syndromic HL (ARNSHL) forms constitute a major share of the HL cases. In the present study, next-generation sequencing (NGS) was applied to investigate the underlying etiology of HL in a multiplex ARNSHL family from Khuzestan province, southwest Iran. METHODS: In this descriptive study, 20 multiplex ARNSHL families from Khuzestan province, southwest of Iran were recruited. After DNA extraction, genetic linkage analysis (GLA) was applied to screen for a panel of more prevalent loci. One family, which was not linked to these loci, was subjected to Otogenetics deafness Next Generation Sequencing (NGS) panel. RESULTS: NGS results showed a novel deletion-insertion variant (c.1555delinsAA) in the MARVELD2 gene. The variant which is a frameshift in the seventh exon of the MARVELD2 gene fulfills the criteria of being categorized as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guideline. CONCLUSION: NGS is very promising to identify the molecular etiology of highly heterogeneous diseases such as HL. MARVELD2 might be important in the etiology of HL in this region of Iran.

Influence of Cochlear Implantation on Balance Function in Pediatrics.

BACKGROUND AND OBJECTIVE: Patients with profound Sensorineural Hearing Loss (SNHL) are susceptible to vestibular disturbances following Cochlear Implant (CI) surgery. This study aimed to evaluate vestibular dysfunctions following unilateral CI in the congenitally deaf children. METHODS: This was a cross-sectional study conducted on 24 children (mean age: 10.56 ± 5.49 years old) who underwent unilateral CI and 24 age-matched controls (mean age: 11.13 ± 6.21 years old). Vestibular functions were assessed by Vestibular Evoked Myogenic Potential (VEMP) and Computerized Dynamic Posturography (CDP). The VEMP test was performed for otolith's function (especially saccule) evaluation. Sensory Organization Test (SOT) protocol of CDP was also utilized to differentiate the role of various sensory systems contributing to postural stability. In addition, total equilibrium score was calculated. The variables were comparatively assessed between the two groups. RESULTS: The mean p13-n23 amplitude in the CI users was significantly lower than the controls (p<0.05). However, the two groups showed no significant difference in cVEMP latency values (p>0.05). The SOT analysis revealed that 45.83% (11/24) of the CI subjects had some kind of sensory abnormalities: 7 cases (29.17%) vestibular, 2 cases (8.33%) visual, 2 cases (8.33%) vestibular and somatosensory involvements. Furthermore, total equilibrium score was significantly reduced in implanted group than the controls (p<0.001). At least, 70.59% (12/24) CI patients showed abnormal values in the CDP or cVEMP examinations. CONCLUSION: This study shows functional vestibular impairments in children who underwent CI. These patients showed significantly increased postural instability which was more evident in dynamic conditions. These findings provide the basis for better pre-operative counseling and postoperative vestibular rehabilitation to CI recipients.

Investigating the Effects of Vestibular Rehabilitation on Balance Function in Cochlear Implant Recipients.

BACKGROUND: Cochlear Implantation (CI) is an effective surgical approach to rehabilitate the severe to profound hearing-impaired patients. However, the insertion of CI electrodes into the cochlea may adversely affect vestibular receptors, resulting in vertigo or dizziness. The present study aimed to investigate the impacts of Vestibular Rehabilitation Therapy (VRT) exercises on dizziness symptoms of patients who underwent CI. METHODS: A total of 21 consecutive patients (age range: 28 to 61 years) with profound sensorineural hearing loss undergoing CI operation participated. The VRT therapy plan consisted of a habituation and adaptation exercises in combination with gait and balance exercises. The handicapping influences of dizziness was measured using a Dizziness Handicap Inventory (DHI) scale to measure the level of respondent's performance on physical, emotional, and functional dimensions. Visual Analogue Scale (VAS) was also conducted to assess the severity of dizziness symptoms. The DHI and VAS scales were conducted before VRT and at "oneweek", "two-week", and "four-week" following the last rehabilitation session. RESULTS: A repeated-measure analysis of variance demonstrated a significant decrement and a consequent improvement in DHI scores after vestibular exercises in all emotional, physical and functional domains (p < 0.001). We also found that the influence of implanted ear (p=0.076) and gender (p=0.094) variables on DHI scores were not statistically significant. The mean VAS score was 5.87 ± 2.27 at baseline stage and it reduced significantly during the course of the therapy (second week, 2.02 ±1.75, p < 0.001; and forth week, 1.51 ± 1.29, p < 0.001). CONCLUSION: The findings of this study showed that vestibular rehabilitation therapy has a positive impact on the symptoms of the patients who underwent CI surgery. These exercises lead to an improvement in balance and postural stability, and a reduction in the self-report measure of handicaps. These findings provide the basis for better pre-operative counseling and postoperative vestibular rehabilitation to CI recipients.

Cohort profile: The Hoveyzeh Cohort Study (HCS): A prospective population-based study on non-communicable diseases in an Arab community of Southwest Iran.

Background: The Hoveyzeh cohort study (HCS) is a population-based cohort study that conducted in Hoveyzeh County (South-west Iran). HCS focus on common chronic diseases, disorders and risk factors of NCDs in the Arab ethnicity. Methods: A total number of 10009 participants (35-70 years old) were recruited in this prospective cohort study from May 2016 to August 2018. The HCS data were gathered by trained interviewer through interviewer-administered questionnaires. Also anthropometric measurements, physical examinations, clinical assessments, ophthalmology evaluation, auditory examinations, respiratory and cardiovascular assessments was conducted by means of standard instruments. Biological samples including blood, urine, hair, and nail collected and stored in the biobank. Results: The overall participation rate was 82.7%. The prevalence of obesity was 27.4% in males and 47% in females. Cigarette smoking prevalence was 20.9% (40.6 % in men and 7.6 % in women). Prevalence of major non communicable diseases such as diabetes, hypertension, metabolic syndrome, cardiac ischemic, myocardial infarction and stroke was 22.2%, 26.4% 31.9 %, 13.6%, 1.85% and 1.6% respectively. Conclusion: Considering the high prevalence of obesity and smoking in the population of Hoveyzeh and since the important role of these risk factors in development of common non communicable diseases, this issue should be taken into consideration and the necessary interventions in this context must be considered to modify lifestyle. The HCS is the only comprehensive cohort in the region, enabling it to provide valuable evidence about NCDs for a wide geographical area covering millions of people in both Iran and Iraq.

Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing.

BACKGROUND AND OBJECTIVES: Hereditary hearing loss (HL) is known by a very high genetic heterogeneity, which makes a molecular diagnosis problematic. Next-generation sequencing (NGS) is a new strategy that can overcome this problem. METHOD: A comprehensive family history was obtained, and clinical evaluations and pedigree analysis were performed in the family with 3 affected members. After excluding mutations in the GJB2 and 7 other most common autosomal recessive nonsyndromic HL genes via Sanger sequencing and genetic linkage analysis in the family, we applied the Otogenetics deafness NGS panel in the proband of this family. RESULTS: NGS results showed a novel rare variant (c.7720C>T) in the MYO15A gene. This nonsense variant in the exon 40 of the MYO15A gene fulfills the criteria of being categorized as pathogenic according to the American College of Medical Genetics and Genomics guideline. CONCLUSIONS: New DNA sequencing technologies could lead to identification of the disease causing variants in highly heterogeneous disorders such as HL.

Ossicular chain defects in adults with chronic otitis media.

BACKGROUND AND OBJECTIVE: Chronic otitis media (COM) is a common condition characterized by the perforation of the tympanic membrane and inflammation of the mucosal lining the hollow space in the middle ear and airy spaces of the temporal bone for at least 2-6 week. This study was carried out to find out the status of the middle ear ossicles in patients with COM and to correlate their status with clinical parameters. METHODS: This retrospective clinical study was conducted on 107 COM patients (52 males and 55 females; age range: 18 to 75 years) submitted to surgery in the Otology Clinic at Imam Khomeini Hospital, Ahvaz Jundishapur University of Medical Sciences, Iran. Initially, a comprehensive case-history was obtained from patients and their hearing thresholds were recorded. Then, ossicles status and their junction condition were evaluated intraoperatively. RESULTS: The malleus was found intact in 70 (65.42%), absent in 10 (9.34), and eroded in 27 (25.24%) patients. Our results revealed that the incus was intact in 33 (30.84%), eroded in 55 (51.41%) and absent in 19 (17.75%) subjects. Stapes was found intact in 54 (50.46%) cases and eroded in 53 (49.54%) cases. The mean Pure Tone Average (PTA) and Air-Bone Gap (ABG) comparisons in "intact" and "discontinuous" ossicular chain groups was not significant (Independent sample t-test, p>0.05). CONCLUSION: Our results demonstrated that incus was the most susceptible middle ear ossicle to erosion in COM, whereas the malleus was the most resistant ossicle. Furthermore, ABG and PTA values cannot be considered as a potential preoperative predictor for ossicular chain status.

Perceptual organization of sequential stimuli in cochlear implant listeners: A temporal processing approach.

OBJECTIVE: Cochlear Implant (CI) users often suffer difficulties in perceiving speech in noisy environments that could be attributed to reduced Auditory Stream Segregation (ASS) ability. ASS is the process used to separate a complex sound into different perceptual streams. The evidence that CI listeners routinely experience stream segregation skill is limited and equivocal. The present study was aimed to investigate the effects of temporal cues on ASS performance in postlingually deaf listeners with CI. METHODS: Nineteen (age range: 28-64 years old) monaurally cochlear implanted listener participated in this study. They were presented with 30-s sequences of alternating stimuli in a repeating A-B-A-A-B-A…sequence, where "tone A" corresponds to a stimulus applied to electrode 11, and "tone B" to a stimulus on one of the other electrode. To investigate the effect of temporal cues on ASS, four different tone repetition times (TRTs) were utilized: 50, 100, 150, and 200 ms. Speech discrimination scores in noise were also recorded for every CI recipients. RESULTS: Only 6 (32%) CI users demonstrated ASS pattern similar to the normal hearing subjects, while the majority of the users (n=13) possessed poorer ASS skills. An analysis of variance showed a significant effect of electrode separation (p<0.001) and TRT (p=0.041), but there was no significant interaction between electrode separation and TRT variables. The best ASS performance was obtained when TRT was 200 ms, and there was no significant effect for other TRT conditions. Moderate, significant correlations between streaming and speech discrimination measurement in noise was also observed (r=0.62), with better stream segregation associated with better understanding of speech in noise. CONCLUSION: ASS is a contributing factor in the ability to perceive speech in background noise. The inability of some CI recipients to perform stream segregation may therefore contribute to their difficulties in noisy backgrounds. Furthermore, stream segregation ability is related to the tone repetition time between the sounds.

A National Iranian Cochlear Implant Registry (ICIR): cochlear implanted recipient observational study.

BACKGROUND AND OBJECTIVE: Patients who receive cochlear implants (CIs) constitutes a significant population in Iran. This population needs regular monitor on long-term outcomes, educational placement and quality of life. Currently, there is no national or regional registry on the long term outcomes of CI users in Iran. The present study aims to introduce the design and implementation of a national patient-outcomes registry on CI recipients for Iran. This Iranian CI registry (ICIR) provides an integrated framework for data collection and sharing, scientific communication and collaboration inCI research. METHODS: The national ICIR is a prospective patient-outcomes registry for patients who are implanted in one of Iranian centers. The registry is based on an integrated database that utilizes a secure web-based platform to collect response data from clinicians and patient's proxy via electronic case report forms (e-CRFs) at predefined intervals. The CI candidates are evaluated with a set of standardized and non-standardized questionnaires prior to initial device activation(as baseline variables) and at three-monthly interval follow-up intervals up to 24 months and annually thereafter. RESULTS: The software application of the ICIR registry is designed in a user-friendly graphical interface with different entry fields. The collected data are categorized into four subsets including personal information, clinical data, surgery data and commission results. The main parameters include audiometric performance of patient, device use, patient comorbidities, device use, quality of life and health-related utilities, across different types of CI devices from different manufacturers. CONCLUSION: The ICIR database could be used by the increasingly growing network of CI centers in Iran. Clinicians, academic and industrial researchers as well as healthcare policy makers could use this database to develop more effective CI devices and better management of the recipients as well as to develop national guidelines.