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.

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.

Pairwise alignment of nucleotide sequences using maximal exact matches.

BACKGROUND: Pairwise alignment of short DNA sequences with affine-gap scoring is a common processing step performed in a range of bioinformatics analyses. Dynamic programming (i.e. Smith-Waterman algorithm) is widely used for this purpose. Despite using data level parallelisation, pairwise alignment consumes much time. There are faster alignment algorithms but they suffer from the lack of accuracy. RESULTS: In this paper, we present MEM-Align, a fast semi-global alignment algorithm for short DNA sequences that allows for affine-gap scoring and exploit sequence similarity. In contrast to traditional alignment method (such as Smith-Waterman) where individual symbols are aligned, MEM-Align extracts Maximal Exact Matches (MEMs) using a bit-level parallel method and then looks for a subset of MEMs that forms the alignment using a novel dynamic programming method. MEM-Align tries to mimic alignment produced by Smith-Waterman. As a result, for 99.9% of input sequence pair, the computed alignment score is identical to the alignment score computed by Smith-Waterman. Yet MEM-Align is up to 14.5 times faster than the Smith-Waterman algorithm. Fast run-time is achieved by: (a) using a bit-level parallel method to extract MEMs; (b) processing MEMs rather than individual symbols; and, (c) applying heuristics. CONCLUSIONS: MEM-Align is a potential candidate to replace other pairwise alignment algorithms used in processes such as DNA read-mapping and Variant-Calling.

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.

Improved VCF normalization for accurate VCF comparison.

MOTIVATION: The Variant Call Format (VCF) is widely used to store data about genetic variation. Variant calling workflows detect potential variants in large numbers of short sequence reads generated by DNA sequencing and report them in VCF format. To evaluate the accuracy of variant callers, it is critical to correctly compare their output against a reference VCF file containing a gold standard set of variants. However, comparing VCF files is a complicated task as an individual genomic variant can be represented in several different ways and is therefore not necessarily reported in a unique way by different software. RESULTS: We introduce a VCF normalization method called Best Alignment Normalisation (BAN) that results in more accurate VCF file comparison. BAN applies all the variations in a VCF file to the reference genome to create a sample genome, and then recalls the variants by aligning this sample genome back with the reference genome. Since the purpose of BAN is to get an accurate result at the time of VCF comparison, we define a better normalization method as the one resulting in less disagreement between the outputs of different VCF comparators. AVAILABILITY AND IMPLEMENTATION: The BAN Linux bash script along with required software are publicly available on https://sites.google.com/site/banadf16. CONTACT: A.Bayat@unsw.edu.au. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Effects of Body Position on Cochlear Function in Infants: An Otoacoustic Emission Study.

Background: Otoacoustic Emission (OAE) is frequently recorded in various body positions for infants. However, little is available about whether these deviations will produce non-pathological effects on the clinical results. The current study assessed body position's effect on infants' inner ear function. Methods: Sixty normally hearing infants participated in an analytical cross-sectional study. Distortion-product OAEs (DPOAEs) were measured in the supine, side-lying, and upright positions. The DPOAE amplitude and signal-to-noise ratio (SNR) were recorded across the 1500 to 6000 Hz range. Results: The mean DPOAE amplitude and SNR values were significantly greater in the upright position than supine and side-lying positions (p < 0.05). These differences were more pronounced in the 3000 to 6000 Hz range. The effects of gender and ear asymmetry on DPOAEs were not statistically significant. Conclusion: Our findings suggested that the upright position could be regarded as the best position for assessing DPOAEs in infants.

PEPS: Polygenic Epistatic Phenotype Simulation.

Genetic data is limited and generating new datasets is often an expensive, time-consuming process, involving countless moving parts to genotype and phenotype individuals. While sharing data is beneficial for quality control and software development, privacy and security are of utmost importance. Generating synthetic data is a practical solution to mitigate the cost, time and sensitivities that hamper developers and researchers in producing and validating novel biotechnological solutions to data intensive problems. Existing methods focus on mutation frequencies at specific loci while ignoring epistatic interactions. Alternatively, programs that do consider epistasis are limited to two-way interactions or apply genomic constraints that make synthetic data generation arduous or computationally intensive. To solve this, we developed Polygenic Epistatic Phenotype Simulator (PEPS). Our tool is a probabilistic model that can generate synthetic phenotypes with a controllable level of complexity.

Cochlear Implantation Outcomes in Pediatrics with Inner Ear Malformations in a Tertiary Care Hospital in Ahvaz.

Cochlear implantation (CI) has been successful in individuals with sensorineural hearing loss (SNHL) over the last few years. This study assessed the auditory and speech performance results of pediatrics with inner ear malformations (IEMs) following cochlear implantation at the Ahvaz cochlear implantation center and compared the outcomes of various malformations. All pediatrics with IEMs undergoing CI were included in the study. This retrospective study was performed on pediatrics with congenital IEMs who underwent cochlear implantation in Ahvaz cochlear implantation center between 2014 and 2019. The Category of Auditory Performance (CAP) and the Speech Intelligibility Rating (SIR) scores are two of the most frequently administered tests. The CAP with ranging from 0 (displays no awareness of environmental sounds) to 7 (can use the telephone with a familiar talker), was used to measure the speech perception performance of the implanted children. Furthermore, SIR consists of five performance categories ranging from "prerecognizable words in spoken language" to "connected speech is intelligible to all listeners". Finally, the study included 22 patients. The evaluation of the CT-Scan revealed three types of inner ear malformation: Incomplete Partition (IP)-I in 2 (9.1%), IP-II in 12 (54.5%), and common cavity in 8 (36.4%) individuals. The results were shown that the median CAP score preoperative was 0.5 (interquartile range (IQR): 0-2) and postoperative was 3.5 (IQR: 3-7). There were statistically significant differences in CAP scores between preoperative and second-year follow-up postoperative (p value = 0.036). The results were shown that the median SIR score preoperative was 1 (IQR: 1-5) and postoperative was 2 (IQR: 1-5). There were statistically significant differences in SIR scores between preoperative and second-year follow-up postoperative (p value = 0.001). Following a thorough preoperative screening, patients with specific IEMs can be candidates for CI and not a contraindication. There were statistically significant differences in CAP and SIR scores between preoperative and second-year follow-up postoperative in the common cavity and IP-II groups.

Age-related changes in auditory temporal processing assessed using forward masking.

One of the main complaints of older adults is difficulty understanding speech in noise. For older adults with audiometric thresholds within the normal range this difficulty may partly reflect deficits in temporal processing. The purpose of this study was to evaluate the effect of age on the rate of recovery from forward masking. There were seven young participants (four females; mean age 26 years) and seven older participants (six females; mean age 62 years) with normal audiometric thresholds, designated YNH and ONH groups. Signal frequencies of 500, 1000, 2000, and 4000 Hz were used. The level of the 20-ms signal was fixed at 15 dB SL for each participant and frequency. The 200-ms masker was a band of noise centered at the signal frequency with a bandwidth equal to the center frequency. The masker level was varied to determine the masker-to-signal ratio (MSR) required for threshold for masker-signal intervals (MSIs) of 5, 10, 20, 30, and 50 ms. The MSRs were smaller for the ONH group than for the YNH group, perhaps indicating lower processing efficiency for the former. Importantly, there was a significant interaction between MSI and the group. The change in MSR with increasing MSI was greater for the YNH than for the ONH group, indicating poorer temporal resolution for the latter.

Relationship Between Vocal Fatigue Index and Acoustic Voice Scales in Patients With Coronavirus Infection.

OBJECTIVES: The voice quality of patients with Coronavirus Disease 2019 (COVID-19) seems to be affected due to lower and upper respiratory involvement. Patient-based voice assessment scales are important clinical measures to diagnose voice disorders and monitor treatment outcomes in COVID-19 patients. This study compared vocal fatigue between COVID-19 patients and those with normal voices. Furthermore, the relationship between vocal fatigue and acoustic voice parameters of COVID-19 patients was evaluated. METHODS: This cross-sectional study enrolled 30 laboratory-confirmed patients with COVID-19 (18 males and 12 females) and 30 healthy individuals with normal voices (14 males and 16 females) to compare their respiratory or phonatory parameters. The Persian versions of the Consensus Auditory Perceptual Evaluation of Voice (CAPE-V) and the vocal fatigue index (VFI) were conducted before and after reading the text. The Jitter, shimmer, maximum phonation time, and harmonic-to-noise ratio (HNR) were analyzed by Praat software based on the recorded voices of CAPE-V tasks. The acoustic assessment and VFI questionnaire results were compared between COVID-19 patients and the control group. RESULTS: There were significant differences between COVID-19 patients and their healthy counterparts in all VFI subscales (P < 0.001). Moreover, after reading the text, we found significant differences between the two groups regarding Jitter, shimmer, and HNR of /a/ and /i/ vowels (P < 0.05). Our findings also indicated a significant correlation between symptom improvement with rest and acoustic parameters in all tasks, except the Jitter of /a/ before reading the text. CONCLUSION: Patients with COVID-19 showed significantly more vocal fatigue than people with normal voices after reading the text. Moreover, there was a significant relationship between Jitter, shimmer, and HNR and the tiredness of voice and physical discomfort subscales of VFI.

Alterations in Diffusion Tensor Imaging-derived Indices of Auditory Pathway-related Fiber Tracts in Children With Sensorineural Hearing Loss.

Introduction: Hearing loss is the most common sensory-neurological defect in humans. The most common hearing impairment is sensorineural hearing loss (SNHL) caused by the inner ear and related nerves. Diffusion tensor imaging (DTI) is an advanced MRI technique that can provide valuable information about auditory neural pathways and their microstructural changes. The present study was designed to investigate the microstructural changes in auditory pathways-related fiber tracts in children with SNHL. Methods: Twenty-two children including 11 subjects with SNHL aged 1-4 years and 11 healthy children were examined as controls. Then, DTI-derived parameters, such as fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AxD), and radial diffusivity (RD), and volume of fiber tracts were extracted from the inferior longitudinal fasciculus, acoustic radiation, and uncinate fasciculus. Results: The results showed an increase in MD, RD, and AxD as well as a decrease in FA, volume, and diameter of auditory-pathway-related fiber tracts. Interestingly, there was an increase in the FA of acoustic radiation. Conclusion: White matter connections in the auditory canal decrease and AR integrity increases due to compensatory effects. These probably reflect atrophy or degradation as well as compensatory cross-modal reorganization in the absence of auditory input and the use of sign language. Highlights: Diffusion tensor imaging (DTI) plays an important role in preoperative planning.Anatomical knowledge of the auditory tract is essential for lacrimal drainage surgeries, such as cochlear implantation.DTI-based biomarkers for brain changes and allows us to better understand the pathophysiological changes of auditory tract.Microstructural changes in the fiber tracts associated with the auditory pathway can distinguish sensorineural hearing loss (SNHL) from healthy subjects. Plain Language Summary: Sensorineural hearing loss (SNHL) is the most common type and accounts for the majority of all hearing loss. SNHL is a congenital deficit and refers to any cause of hearing loss due to a pathology of the cochlea, auditory nerve, or central nervous system. One of the chief treatment planning is cochlear implant for these patients. So, it is necessary to evaluate the auditory system by imaging devices such as MRI (magnetic resonance imaging) before treatment. Diffusion tensor imaging tractography, or diffusion tensor imaging (DTI) tractography, is an MRI technique that measures the rate of water diffusion between cells to understand and create a map of the body's internal structures; it is most commonly used to provide imaging of the brain. The purpose of the present research was to assess the auditory system and its nerve routs in children before cochlear implant. This study showed that DT imaging is a novel approach for assessment of children with SNHL before and treatment.

Novel Alzheimer's disease genes and epistasis identified using machine learning GWAS platform.

Alzheimer's disease (AD) is a complex genetic disease, and variants identified through genome-wide association studies (GWAS) explain only part of its heritability. Epistasis has been proposed as a major contributor to this 'missing heritability', however, many current methods are limited to only modelling additive effects. We use VariantSpark, a machine learning approach to GWAS, and BitEpi, a tool for epistasis detection, to identify AD associated variants and interactions across two independent cohorts, ADNI and UK Biobank. By incorporating significant epistatic interactions, we captured 10.41% more phenotypic variance than logistic regression (LR). We validate the well-established AD loci, APOE, and identify two novel genome-wide significant AD associated loci in both cohorts, SH3BP4 and SASH1, which are also in significant epistatic interactions with APOE. We show that the SH3BP4 SNP has a modulating effect on the known pathogenic APOE SNP, demonstrating a possible protective mechanism against AD. SASH1 is involved in a triplet interaction with pathogenic APOE SNP and ACOT11, where the SASH1 SNP lowered the pathogenic interaction effect between ACOT11 and APOE. Finally, we demonstrate that VariantSpark detects disease associations with 80% fewer controls than LR, unlocking discoveries in well annotated but smaller cohorts.

Complications and outcomes of cochlear implantation in children younger than 12 months: A multicenter study.

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.