The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients

  Objective Whole exome sequencing (WES) is a new molecular diagnostic test, used in pediatric medicine, especially pediatric neurology. The diagnostic yield of WES is higher than conventional methods. Therefore, this study aimed to assess the diagnostic yield of WES in a pediatric neurology clinic and to report positive results. Materials & Methods This retrospective study was performed on patients, presenting to the pediatric neurology clinic of Ghaem Hospital in Mashhad, Iran, between March 2015 and March 2017, with various neurological disabilities and unrevealing workup before WES. The patients’ clinical features and molecular diagnoses based on the WES Results were reported in this study. The overall diagnostic yield of WES was 82.71% (67/81 patients). Two patients were excluded for the lack of data. Sixty-five patients with pathogenic or possibly pathogenic variants exhibited various abnormalities, including intellectual disability/developmental delay (n=44), seizure (n=27), developmental regression (n=11), myopathy (n=9), microcephaly (n=8), neuropathy (n=2), autism spectrumdisorder (n=2), and neuromuscular disease (n=2). Overall, 93.84% of the patients were born to consanguineous parents. Also, 62 patients had an autosomal recessive disorder, and three patients had an autosomaldominant disorder. Conclusion The present findings indicating the high diagnostic yield of WES, besides the important role of this test in determining the etiology of non-specific and atypical presentations of genetic disorders, support the use of WES in pediatric neurology practice

Development and psychometric evaluation of the Persian version of the Phoneme Recognition Test A central auditory processing measure

  Objectives The present study evaluating the psychometric properties of the Persian version of the Phoneme Recognition Test (P-PRT) in normal subjects and cochlear implant (CI) users. Material & Methods This study includes developing the Persian phoneme recognition test (PRT), determining its validity and reliability, and comparing the results of a control group versus CI users. The test reliability was examined through a test-retest with an approximately five-week interval. In the present survey, 363 subjects were investigated in three stages. The face validity evaluation stage was conducted on 40 subjects. The psychometric properties of the P-PRT were evaluated in 323 individuals (225 normal subjects and 98 CI users). The test-retest reliability was examined in all the 225 subjects in the control groupand 40 CI users. ResultsThe results confirmed the face validity of the P-PRT. No significant differences were observed between the two genders in terms of performance in the P-PRT. Significant differences were observed between the control and CI groups. Evaluating the test-retest reliability suggested perfect reliability (r>0.9) in both groups. Significant differences were observed in the P-PRT between the adults and the 7-year-old subjects compared to other age groups. Conclusion The P-PRT can be used as a valid and reliable test for clinically evaluating phoneme recognition abilities and monitoring the rehabilitation progres

Comparison of Auditory Localization Ability between Preschool Bilateral Hearing-Impaired Children and Normal Hearing Children

Background: Sound localization is a valuable skill whose maturation is influenced by auditory experience and is limited by bilateral sensorineural hearing loss. No study has assessed auditory localization in bilateral hearing-impaired children (BHIC) aged 5-6 years. The present study aimed to investigate the auditory localization skill in children with moderate-to-severe bilateral hearing loss and using hearing aids compared to their normally hearing peers.Methods: This cross-sectional study recruited 19 participants aged 5-6 years (60-72 months) with a mean age of 65.31± 3.83 months as the BHIC group and 21 participants aged 5-6 years with a mean age of 60.21±3.02 months as the normally hearing children (NHC) group. The localization ability of both groups was tested in 24 positions with 15-degree intervals by a speaker connected to a laptop and a calibrated speech stimulus named "test." A score of +0.5 for each 15 degrees of error on the right side of the position and -0.5 on the left side of the position were considered.Results: The results revealed a significant difference in the error rates between the two groups in four (out of 24) positions (p<0.05). Differences were not statistically significant in other positions.Conclusion: The BHIC had a defect in the localization skill in some situations. Therefore, localization test and localization training are recommended for these children

Correlation between Acoustic Parameters and Disease Severity and Duration in Patients with Multiple Sclerosis

Background: Since in multiple sclerosis (MS), changes in speech and voice quality often precede other signs and symptoms; early diagnosis of these changes is necessary. In this study, an acoustic examination of phonation subsystem was performed. Due to the progressive nature of multiple sclerosis, the aim of this study was to examine the correlation between acoustic parameters of voice quality and disease severity and duration. Methods: This descriptive-analytic study was performed on 43 patients with multiple sclerosis. The disease severity was detected by a neurologist based on the Expanded Disability Status Scale (EDSS) for each patient. Acoustic analysis was performed during the production of sustained vowel /a/ and accordingly, the maximum phonation time (MPT), perturbation of the frequency (jitter), perturbation of amplitude (shimmer), the maximum and minimum frequency, and the highest and lowest intensity were evaluated. All the acoustic analyses were performed using PRAAT software. Data were statistically analyzed using Spearman's correlation coefficient by SPSS version 21. Results: The lowest intensity showed a significant correlation with disease severity (P=0.00). Also, the highest and lowest intensity showed a significant correlation with disease duration (P=0.022 and P=0.002). Conclusion: One of the earlier symptoms of central nervous system impairment resulting from multiple sclerosis is changes in phonation subsystem and voice quality. These changes may appear at any clinical stages; however, the symptoms might get worse over time, with the progression of the disease. Therefore, immediate acoustic assessments and interventions can prevent more degradation of voice quality

Global, regional, and national burden of disorders affecting the nervous system, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021

BackgroundDisorders affecting the nervous system are diverse and include neurodevelopmental disorders, late-life neurodegeneration, and newly emergent conditions, such as cognitive impairment following COVID-19. Previous publications from the Global Burden of Disease, Injuries, and Risk Factor Study estimated the burden of 15 neurological conditions in 2015 and 2016, but these analyses did not include neurodevelopmental disorders, as defined by the International Classification of Diseases (ICD)-11, or a subset of cases of congenital, neonatal, and infectious conditions that cause neurological damage. Here, we estimate nervous system health loss caused by 37 unique conditions and their associated risk factors globally, regionally, and nationally from 1990 to 2021.MethodsWe estimated mortality, prevalence, years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life-years (DALYs), with corresponding 95% uncertainty intervals (UIs), by age and sex in 204 countries and territories, from 1990 to 2021. We included morbidity and deaths due to neurological conditions, for which health loss is directly due to damage to the CNS or peripheral nervous system. We also isolated neurological health loss from conditions for which nervous system morbidity is a consequence, but not the primary feature, including a subset of congenital conditions (ie, chromosomal anomalies and congenital birth defects), neonatal conditions (ie, jaundice, preterm birth, and sepsis), infectious diseases (ie, COVID-19, cystic echinococcosis, malaria, syphilis, and Zika virus disease), and diabetic neuropathy. By conducting a sequela-level analysis of the health outcomes for these conditions, only cases where nervous system damage occurred were included, and YLDs were recalculated to isolate the non-fatal burden directly attributable to nervous system health loss. A comorbidity correction was used to calculate total prevalence of all conditions that affect the nervous system combined.FindingsGlobally, the 37 conditions affecting the nervous system were collectively ranked as the leading group cause of DALYs in 2021 (443 million, 95% UI 378–521), affecting 3·40 billion (3·20–3·62) individuals (43·1%, 40·5–45·9 of the global population); global DALY counts attributed to these conditions increased by 18·2% (8·7–26·7) between 1990 and 2021. Age-standardised rates of deaths per 100 000 people attributed to these conditions decreased from 1990 to 2021 by 33·6% (27·6–38·8), and age-standardised rates of DALYs attributed to these conditions decreased by 27·0% (21·5–32·4). Age-standardised prevalence was almost stable, with a change of 1·5% (0·7–2·4). The ten conditions with the highest age-standardised DALYs in 2021 were stroke, neonatal encephalopathy, migraine, Alzheimer's disease and other dementias, diabetic neuropathy, meningitis, epilepsy, neurological complications due to preterm birth, autism spectrum disorder, and nervous system cancer.InterpretationAs the leading cause of overall disease burden in the world, with increasing global DALY counts, effective prevention, treatment, and rehabilitation strategies for disorders affecting the nervous system are needed

Investigation of student's satisfaction from the laptop desks using satisfaction questionnaire

Background: User satisfaction from a device is an especially term in the design world that covers broad concept of the design content. Objective: The aim of the present study was to design satisfaction questionnaire and survey of satisfaction of student's from the laptop desks. Methods: This analytical - descriptive study has conducted for survey student's satisfaction from the laptop desks in the male dormitories of Qazvin University of Medical Sciences in 2017. Fifty students (17 boys and 33 girls) were recruited by simple stratified random sampling. Based on scientific literature and point of view faculty member and student, 43 items of questionnaire were drafted and reliability and validity were evaluated and only 23 question confirmed. Data analyzed using Pearson correlation and Cronbach's alpha. The percentage of students' satisfaction was determined using cut-off point of questionnaire in receiver operating characteristic (ROC) curve. Findings: The results of Cronbach's alpha and correlation of questionnaire obtained 0.95 and 0.83 respectively. According to the ROC curve, cut-point of satisfaction questionnaire of the students from laptop desks obtained 64.5. Then, the percent of student satisfaction (boys and girls) from desk 1 and 2 were 47.1%, 66.7% and 11.8%, 42.4% respectively. Conclusion: One-third of students from desks were dissatisfied. So, the use of opinion ergonomics specialists and particularly users when designing is necessary for increase user's satisfaction from design of laptop desks

Plasmonic enhanced ultra-thin solar cell: A combined approach using fractal and nano-antenna structure to maximize absorption

In this study, a combined structure is proposed to develop ultra-thin silicon solar cells. This integrated structure consists of silver fractal-like nano-particles and leaky wave nanoantennas. The nano-cuboid pattern embedded inside anti-reflective coating benefits from different optical modes, such as surface plasmons and cavity modes, which trap more light and amplify the electric field in the upper region of the absorber layer. On the bottom side, the hybrid plasmonic mode in the structure of the optical nanoantenna makes it possible to focus and direct the incoming light on the bottom of the absorber layer and increase the optical pathlengths in the ultra-thin film solar cell. The nanoantenna behavior and three-dimensional finite-difference time-domain analysis show that photon absorptions improve significantly at long wavelength lightwaves through this proposed combined structure. The short circuit current enhancement of the solar cell under 1 sun standard illumination is obtained by a factor of 1.94 and 1.80 for TM and TE polarization of incident light, respectively. Due to the acceptable results for different incident angles and polarizations, ultra-thin thickness, and nano-cuboids synthesis feasibility, our structure has the potential to be applied in the design of miniaturized photovoltaic devices