The Psychometric Properties of the Arabic Version of the Anxiety and Preoccupation About Sleep Questionnaire (APSQ).

Background: Insomnia disorder is a common health condition; it has a role in increasing the possibility of developing other psychological disorders, including anxiety and depression. Anxiety and preoccupation with sleep are two examples of common cognitive factors that contribute to the development of chronic insomnia; thus, it is important to have a tool that assesses worry in insomnia. There is no comprehensive psychiatric measure to assess anxiety and preoccupation with sleep in Arabic. We conducted this study to translate, adapt, and validate the Arabic version of the Anxiety and Preoccupation about Sleep Questionnaire (APSQ), providing a reliable psychometric tool to assess concerns regarding sleep within Arabic-speaking communities. Methods: The translation process of the scale involved several steps, including forward and backward translation. A cross-sectional study was conducted using an online survey completed by 523 participants from various Arabic-speaking countries. Psychometric analysis was performed utilizing the R software, including internal consistency, test-retest reliability, and confirmatory factor analysis. In addition, convergent and divergent against the Athens insomnia scale (AIS) and general anxiety disorder (GAD) were conducted. Results: The Arabic-translated form of the APSQ expresses excellent internal consistency with a value of 0.91 for both Cronbach's α and McDonald's ω. The test-retest reliability of a subsample showed an excellent coefficient of 0.93 (p<0.01). A good fit of the APSQ was observed by CFI = 0.93, TLI = 0.91, SRMR = 0.05, and RMSEA = 0.1. Convergent and divergent against AIS and GAD showed statistically significant correlations of 0.85 (p<0.01) and 0.69 (p<0.01), respectively. Our sample showed a mean APSQ score of 31.28 ± 8.31, and the mean age was 23.62 ± 7.5. Conclusion: The Arabic APSQ is reliable and valid for measuring anxiety and preoccupation with sleep in Arabic countries. Using translated APSQ for clinical diagnosis and research is currently trustworthy.

Branched-Chain Amino Acids Supplementation and Post-Exercise Recovery: An Overview of Systematic Reviews.

Objective: This overview of systematic reviews (OoSRs) aimed, firstly, to systematically review, summarize, and appraise the findings of published systematic reviews with or without meta-analyses that investigate the effects of branched-chain amino acids (BCAA) on post-exercise recovery of muscle damage biomarkers, muscle soreness, and muscle performance. The secondary objective was to re-analyze and standardize the results of meta-analyses using the random-effects Hartung-Knapp-Sidik-Jonkman (HKSJ) method.Methods: The methodological quality of the reviews was assessed using A Measurement Tool to Assess Systematic Reviews 2.We searched on five databases (i.e., PubMed, Web of Science, Scopus, SPORTDiscus, ProQuest) for systematic reviews with or without meta-analyses that investigated the effects of BCAA supplementation on the post-exercise recovery of muscle damage biomarkers, muscle soreness, and muscle performance.Results: Eleven systematic reviews (seven with meta-analyses) of individual studies were included. Evidence suggests BCAA ingestion attenuates creatine kinase (CK) levels (medium effects) and muscle soreness (small effects) immediately post-exercise and accelerates their recovery process, with trivial-to-large effects for CK levels and small-to-large effects for muscle soreness. BCAA supplementation has no effect on lactate dehydrogenase, myoglobin, and muscle performance recovery. The re-analyses with HKSJ method using the original data reported a slight change in results significance, concluding the same evidence as the original results. The major flaws found in the analyzed reviews were the absence of justification for excluding studies, and the lack of provision of sources of funding for primary studies and sources of conflict of interest and/or funding description.Conclusions: BCAA supplementation is an effective method to reduce post-exercise muscle damage biomarkers, particularly CK levels, and muscle soreness, with no effect on muscle performance. Future systematic reviews with/without meta-analyses, with greater methodological rigor, are needed.

This is the first overview of systematic reviews investigating the impact of BCAA supplementation on muscle damage biomarkers, muscle soreness, and muscle performance post-exercise recovery.BCAA supplementation reduces creatine kinase levels and muscle soreness, especially when consuming a high dose of BCAA longitudinally.BCAA supplementation has no effect on muscle performance post-exercise recovery.

Genetics of Cardiac Tumours: A Narrative Review.

Cardiac tumours can occur in association with genetic syndromes. Rhabdomyomas have been reported in association with tuberous sclerosis, myxomas with Carney's complex, cardiac fibromas with Gorlin syndrome, and paragangliomas with multiple endocrine neoplasm syndrome. The presentation and prognosis of cardiac tumours associated with genetic syndromes differ compared with sporadic cases. Knowledge about the associated syndromes' genetic features and extracardiac manifestations is essential for the diagnosis, prognosis, and management of cardiac neoplasms. Moreover, identifying genetic mutations in benign and malignant cardiac tumours is needed to personalise management and improve treatment outcomes. Thus, this review discusses the genetic abnormalities associated with cardiac tumours, the current genetic screening recommendations, and the effect of those genetic mutations on the outcomes.

Impact of Nomophobia on Musculoskeletal Problems in the Upper Extremity among Adults: Implications for Occupational Therapy.

Nomophobia (NO MObile PHone Phobia) is a psychological condition in which people are anxious of being cut off from their mobile phones and been associated with adverse consequences to physical and psychosocial health. The objective of this study was to measure the impact of nomophobia on musculoskeletal problems in the upper extremity among adults. The Nomophobia scale (NMP-Q) was used to measure addiction to smartphone use among 5,087 Middle Eastern adults. A snowball sampling approach was used to recruit the participants between March and June 2021. Results showed that nomophobia was evident in 1,119 participants (22%) with a mean NMP-Q score of 114.1 (SD 11.1). A total of 3,396 upper extremity symptoms were reported among our participants. The binomial logistic regression showed that NMP-Q score is a significant predictor of symptoms to the thumb only (ß = 0.01, p = .026). This study has provided evidence of the negative physical consequences of addiction to smartphone use. Participants with thumb-related symptoms were more prone to sustain other concurrent upper extremity symptoms, probably due to their maladaptive habits of using the phone. Thus, it is important to increase awareness about the risks associated with the use of smartphones. Implications for occupational therapy are presented.

Quality of Life, Fatigue, and Physical Symptoms Post-COVID-19 Condition: A Cross-Sectional Comparative Study.

The magnitude of post-COVID-19 syndrome was not thoroughly investigated. This study evaluated the quality of life and persistence of fatigue and physical symptoms of individuals post-COVID-19 compared with noninfected controls. The study included 965 participants; 400 had previous COVID-19 disease and 565 controls without COVID-19. The questionnaire collected data on comorbidities, COVID-19 vaccination, general health questions, and physical symptoms, in addition to validated measures of quality of life (SF-36 scale), fatigue (fatigue severity scale, FSS), and dyspnea grade. COVID-19 participants complained more frequently of weakness, muscle pain, respiratory symptoms, voice disorders, imbalance, taste and smell loss, and menstrual problems compared to the controls. Joint symptoms, tingling, numbness, hypo/hypertension, sexual dysfunction, headache, bowel, urinary, cardiac, and visual symptoms did not differ between groups. Dyspnea grade II-IV did not differ significantly between groups (p = 0.116). COVID-19 patients scored lower on the SF-36 domains of role physical (p = 0.045), vitality (p < 0.001), reported health changes (p < 0.001), and mental-components summary (p = 0.014). FSS scores were significantly higher in COVID-19 participants (3 (1.8-4.3) vs. 2.6 (1.4-4); p < 0.001). COVID-19 effects could persist beyond the acute infection phase. These effects include changes in quality of life, fatigue, and persistence of physical symptoms.

Feasibility, and barriers to use escitalopram in functional gastrointestinal disorders.

Background and study aims: The feasibility and barriars of escitalopram use in patients with functional gastrointestinal disorders (FGIDs) are still debated. We aimed to evaluate the feasibility, safety and efficacy and barriars of escitalopram use in managing FGIDs in the Saudi population. Patients and Methods: We included 51 patients who received escitalopram for irritable bowel syndrome (n = 26), functional heartburn (n = 10), globus sensation (n = 10) or combined disorders (n = 5). We used an irritable bowel syndrome-severity scoring system IBS-SSS), GerdQ questionnaire and Glasgow Edinburg Throat Scale (GETS) to assess disease severity change before and after treatment. Results: The median age was 33 years (25th- 75th percentiles: 29-47), and 26 (50.98%) were males. Forty-one patients experienced side effects (80.39%), but most side effects were mild. The most common side effects were drowsiness/fatigue/dizziness (54.9%), xerostomia (23.53%), nausea/vomiting (21.57%) and weight gain (17.65%). IBS-SSS was 375 (255-430) and 90 (58-205) before and after treatment, respectively (p < 0.001). GerdQ score was 12 (10-13) before treatment and 7 (6-10) after treatment (p = 0.001). GETS score before treatment was 32.5 (21-46) and after treatment became 22 (13-31) (p = 0.002). Thirty-five patients refused to take the medications, and seven patients discontinued the medication. Possible causes of the poor compliance were fear of the medications and not being convinced of taking psychiatric medications for functional disorders (n = 15). Conclusion: Escitalopram could be a safe and effective treatment for functional gastrointestinal disorders. Targeting and managing factors leading to poor compliance could further improve the treatment outcome.

Cross-cultural comparison of mental illness stigma and help-seeking attitudes: a multinational population-based study from 16 Arab countries and 10,036 individuals.

BACKGROUND: There is evidence that culture deeply affects beliefs about mental illnesses' causes, treatment, and help-seeking. We aimed to explore and compare knowledge, attitudes toward mental illness and help-seeking, causal attributions, and help-seeking recommendations for mental illnesses across various Arab countries and investigate factors related to attitudes toward help-seeking. METHODS: We carried out a multinational cross-sectional study using online self-administered surveys in the Arabic language from June to November 2021 across 16 Arab countries among participants from the general public. RESULTS: More than one in four individuals exhibited stigmatizing attitudes towards mental illness (26.5%), had poor knowledge (31.7%), and hold negative attitudes toward help-seeking (28.0%). ANOVA tests revealed a significant difference between countries regarding attitudes (F = 194.8, p < .001), knowledge (F = 88.7, p < .001), and help-seeking attitudes (F = 32.4, p < .001). Three multivariate regression analysis models were performed for overall sample, as well as Palestinian and Sudanese samples that displayed the lowest and highest ATSPPH-SF scores, respectively. In the overall sample, being female, older, having higher knowledge and more positive attitudes toward mental illness, and endorsing biomedical and psychosocial causations were associated with more favorable help-seeking attitudes; whereas having a family psychiatric history and endorsing religious/supernatural causations were associated with more negative help-seeking attitudes. The same results have been found in the Palestinian sample, while only stigma dimensions helped predict help-seeking attitudes in Sudanese participants. CONCLUSION: Interventions aiming at improving help-seeking attitudes and behaviors and promoting early access to care need to be culturally tailored, and congruent with public beliefs about mental illnesses and their causations.

TSH-ß gene polymorphism in Saudi patients with thyroid cancer: A case-control study.

Background: The role of thyroid-stimulating hormone in the pathogenesis of thyroid cancer is not yet fully explored. This study aimed to evaluate the role of the TSH-ß polymorphism in thyroid cancer in a Saudi cohort. Methods: A prospective case-control study was conducted on 507 patients with differentiated thyroid carcinoma and compared them with 560 controls of Saudi origin. The association of two variants, the rs201857310, and rs7530810, in the TSH-ß gene with thyroid cancer risk as well as thyroxine dose, were evaluated. Results: The rs201857310_A > G [OR: 0.50 (95 % CI: 0.35-0.71); P < 0.0001] was strongly associated with thyroid cancer. The multivariable analysis adjusted the effect of possible confounders (age, sex, body mass index, and smoking). Multivariable analysis elucidated that the rs201857310 maintained its significant association with the disease [OR: 0.47 (95 % CI: 0.32-0.68); P < 0.0001]. There was no significant association between the other rs7530810 variant and the disease. There was no association between any of the variants and the thyroxine dose requirement (P = 0.79 and 0.73). Conclusions: Our findings indicate that the TSH-ß gene could have a role in the pathogenesis of differentiated thyroid carcinoma in the Saudi population.

The prevalence and severity of insomnia symptoms during COVID-19: A global systematic review and individual participant data meta-analysis.

INTRODUCTION: There have been no previous meta-analytic studies that have looked at the prevalence of insomnia symptoms in different COVID-19 groups using a single assessment instrument to evaluate insomnia symptoms while maintaining data homogeneity. The current review's associated goal is to undertake an individual participant data (IPD) analysis to further investigate past meta-analyses, a method that has been shown to be more robust than standard meta-analyses. MEETHODS: Only studies that used the Insomnia Severity Index (ISI) to assess insomnia are used in this analysis. The IPDMA was performed and registered in PROSPERO in compliance with the PRISMA IPD Statement (CRD42021275817). From November 2019 to August 2021, researchers explored seventeen databases and six preprint services for relevant studies. RESULTS: The pooled estimate of insomnia symptoms (subthreshold and clinically significant) was 52.57%. An estimated 16.66% of the population suffered from clinically significant insomnia, of which 13.75% suffered from moderate insomnia, and 2.50% suffered from severe insomnia. The different populations' grouping had no statistically significant differences in the prevalence of insomnia symptoms. Insomnia symptoms did not appear to be associated with age or sex. CONCLUSION: Our findings imply that the COVID-19 pandemic is linked to a significant rise in subthreshold insomnia symptoms, but not to moderate or severe insomnia. Educating people from all walks of life about the importance of sleep and the risk of acquiring insomnia symptoms during this or future pandemics should be a top concern.

Sleep dissatisfaction is a potential marker for nomophobia in adults.

INTRODUCTION: NOMOPHOBIA is a term used to describe an anxiety disorder in which people fear being disconnected from their mobile phones. Strong associations between nomophobia and insomnia have previously been documented. However, there is no clear explanation for this relationship between the two disorders. The present study was designed to first determine the diagnostic precision of the Insomnia Severity Index (ISI) various components in detecting or classifying nomophobia; and second, examine the diagnostic performance of the identified ISI components in classifying nomophobia. METHODS: From a previous study 549 participants completed demographic information, the Nomophobia Questionnaire (NMP-Q), and the ISI. The sample was divided into two parts so that each part represented the original sample, using a 40% (n = 209) allocation for sample 1 and 60% (n = 340) for sample 2. To determine common components between nomophobia and insomnia, an exploratory factor analysis was performed using sample 1 to determine the diagnostic precision of the ISI's various components in detecting or classifying nomophobia. A test of the ISI and a cut-off value (ISI-4 ≥2) was then conducted on Sample 2 to determine whether they would accurately identify significant nomophobia. RESULTS: Sleep dissatisfaction was a common component of insomnia and nomophobia. Sleep dissatisfaction had excellent diagnostic accuracy in detecting individuals with nomophobia (sensitivity 75.13%, specificity 100%, Youden' index 0.75, area under curve 0.88). CONCLUSION: Questioning patients sleep dissatisfaction may serve as a marker for both nomophobia and insomnia, both of which may demand more comprehensive evaluation.

Clinical, genetic, and functional characterization of the glycine receptor ß-subunit A455P variant in a family affected by hyperekplexia syndrome.

Hyperekplexia is a rare neurological disorder characterized by exaggerated startle responses affecting newborns with the hallmark characteristics of hypertonia, apnea, and noise or touch-induced nonepileptic seizures. The genetic causes of the disease can vary, and several associated genes and mutations have been reported to affect glycine receptors (GlyRs); however, the mechanistic links between GlyRs and hyperekplexia are not yet understood. Here, we describe a patient with hyperekplexia from a consanguineous family. Extensive genetic screening using exome sequencing coupled with autozygome analysis and iterative filtering supplemented by in silico prediction identified that the patient carries the homozygous missense mutation A455P in GLRB, which encodes the GlyR ß-subunit. To unravel the physiological and molecular effects of A455P on GlyRs, we used electrophysiology in a heterologous system as well as immunocytochemistry, confocal microscopy, and cellular biochemistry. We found a reduction in glycine-evoked currents in N2A cells expressing the mutation compared to WT cells. Western blot analysis also revealed a reduced amount of GlyR ß protein both in cell lysates and isolated membrane fractions. In line with the above observations, coimmunoprecipitation assays suggested that the GlyR α1-subunit retained coassembly with ßA455P to form membrane-bound heteromeric receptors. Finally, structural modeling showed that the A455P mutation affected the interaction between the GlyR ß-subunit transmembrane domain 4 and the other helices of the subunit. Taken together, our study identifies and validates a novel loss-of-function mutation in GlyRs whose pathogenicity is likely to cause hyperekplexia in the affected individual.

Camel milk composition by breed, season, publication year, and country: A global systematic review, meta-analysis, and meta-regression.

Camel milk consists of an essential macro/micronutrient for human nutrition in the arid and urban regions. This review study aimed to use meta-analysis statistical techniques for assessment and correction of publication bias, exploration of heterogeneity between studies, and detailed assessment of the effect of a comprehensive set of moderators including breed, season, country, year of publication, and the interaction between composition elements. This could provide a single synthesis of the camel milk composition to warrant strong generalizability of results, examine variability between available studies, and analyze differences in camel milk composition among different exposures. Such a finding will aid future researchers and health professionals in acquiring a more precise understanding of camel milk composition and drawing more clinical implications. Six searching databases and bibliographic were used including PubMed/MEDLINE, ScienceDirect, Springer, EBSCOhost, Scopus, and Web of Science from January 1980 to December 2021. The DerSimonian-Laird estimator was used to create the current random-effects meta-analysis. This systematic review and meta-analysis included a total of 7298 camel milk samples from 23 countries. This review comprises 79 studies published in the English language on or after 1980, including a subgroup of 117 analyses consisting of seasons, sub-breeds, and countries. The contents of macro/micronutrients in camel milk were identified as follows: protein, 3.17%; fat, 3.47%; lactose, 4.28%; ash, 0.78%; and total solids, 11.31%; calcium, 112.93 mg/100 g; iron, 0.45 mg/100 g; potassium, 116.13 mg/100 g; magnesium, 9.65 mg/100 g; sodium, 53.10 mg/100 g; zinc, 1.68 mg/100 g; vitamin C, 5.38 mg/100 g; vitamin A, 0.36 mg/100 g; vitamin B1 ,0.05 mg/100 g; vitamin B2 , 0.13 mg/100 g; vitamin B3 , 0.51 mg/100 g; vitamin B6 , 0.09 mg/100 g; and vitamin B12 , 0.0039 mg/100 g. Our meta-regression analysis found that fat and total solids were statistically significant moderators of protein; moreover, total solids content is a statistically significant moderator of fat. Discrepancies observed in camel milk profiles are dependent upon several factors, including number of included studies, number of samples, different analytical techniques, feeding patterns, camel's breeds, geographical locations, and seasonal variations.

Symptoms of Nomophobia, Psychological Aspects, Insomnia and Physical Activity: A Cross-Sectional Study of ESports Players in Saudi Arabia.

(1) Background: ESports is a new trend of sports, which has gained considerable popularity worldwide. There is a scarcity of evidence that focuses on the lifestyle of ESports players (eSP) particularly on symptoms of nomophobia, level of anxiety, sleep quality, food consumption and physical activity. (2) Objective: to determine the prevalence and relationship between symptoms of nomophobia, psychological aspects, insomnia and physical activity of eSP in Saudi Arabia. (3) Methods: A cross-sectional study was conducted between March and April 2021 using a convenient self-selection adult sample. A total of 893 (216 eSP vs. 677 non-eSP (NeSP)) participants aged over 18 years were included. All participants answered a seven-part validated questionnaire that included: (i) sociodemographic questions; (ii) a symptoms of nomophobia questionnaire; (iii) general anxiety disorder questions, (iv) an insomnia severity index, (v) an Internet addiction scale, (vi) the Yale food addiction scale 2.0 short form and (vii) an international physical activity questionnaire. (4) Results: Among the entire population, the prevalence of moderate to severe nomophobia, anxiety, insomnia, Internet addiction and low physical activity were 29.8%, 13.9%, 63.3%, 27% and 2.8%, respectively. The eSP and NeSP differed significantly in nomophobia scale, anxiety and insomnia values. Compared to NeSP, eSP had a higher level of severe nomophobia p = 0.003, a severe level of anxiety p = 0.025 and symptoms of insomnia p = 0.018. Except for food addiction and physical activity, a positive correlation was identified between symptoms of nomophobia, anxiety and insomnia among eSP. (5) Conclusion: This study reported high prevalence of nomophobia, anxiety and insomnia among eSP compared to NeSP.

Sleep disturbances during the COVID-19 pandemic: A systematic review, meta-analysis, and meta-regression.

This systematic review and meta-analysis evaluated the extent of sleep disturbances during the COVID-19 pandemic. Eleven databases and six preprint repositories were searched for the period from November 1, 2019, to July 15, 2021. The DerSimonian and Laird method was used to develop random-effect meta-analyses. Two hundred and fifty studies comprising 493,475 participants from 49 countries were included. During COVID-19, the estimated global prevalence of sleep disturbances was 40.49% [37.56; 43.48%]. Bayesian meta-analysis revealed an odds of 0.68 [0.59; 0.77] which translates to a rate of approximately 41%. This provides reassurance that the estimated rate using classical meta-analysis is robust. Six major populations were identified; the estimated prevalence of sleep problem was 52.39% [41.69; 62.88%] among patients infected with COVID-19, 45.96% [36.90; 55.30%] among children and adolescents, 42.47% [37.95; 47.12%] among healthcare workers, 41.50% [32.98; 50.56%] among special populations with healthcare needs, 41.16% [28.76; 54.79%] among university students, and 36.73% [32.32; 41.38%] among the general population. Sleep disturbances were higher during lockdown compared to no lockdown, 42.49% versus 37.97%. Four in every ten individuals reported a sleep problem during the COVID-19 pandemic. Patients infected with the disease, children, and adolescents appeared to be the most affected groups.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects. Exome sequencing was performed to identify underlying ITPA pathogenic variants. Brain MRI (magnetic resonance imaging) scans were systematically analyzed to delineate the neuroradiological spectrum. Survival curves according to the Kaplan-Meier method and log-rank test were used to investigate outcome predictors in different subgroups of patients. We identified 18 distinct ITPA pathogenic variants, including 14 novel variants, and two deletions. All subjects showed profound developmental delay, microcephaly, and refractory epilepsy followed by neurodevelopmental regression. Brain MRI revision revealed a recurrent pattern of delayed myelination and restricted diffusion of early myelinating structures. Congenital microcephaly and cardiac involvement were statistically significant novel clinical predictors of adverse outcomes. We refined the molecular, clinical, and neuroradiological characterization of ITPase deficiency, and identified new clinical predictors which may have a potentially important impact on diagnosis, counseling, and follow-up of affected individuals.

Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.

Background: SLC13A5 (solute carrier family 13, member 5) encodes sodium/citrate cotransporter, which mainly localizes in cellular plasma membranes in the frontal cortex, retina, and liver. Pathogenic variants of the gene cause an autosomal recessive syndrome known as "developmental and epileptic encephalopathy 25 with amelogenesis imperfecta." Results: Here, we have investigated six patients from three different consanguineous Saudi families. The affected individuals presented with neonatal seizures, developmental delay, and significant defects in tooth development. Some patients showed other clinical features such as muscle weakness, motor difficulties, intellectual disability, microcephaly, and speech problems in addition to additional abnormalities revealed by electroencephalography (EEGs) and magnetic resonance imaging (MRI). One of the MRI findings was related to cortical thickening in the frontal lobe. To diagnose and study the genetic defects of the patients, whole exome sequencing (WES) coupled with confirmatory Sanger sequencing was utilized. Iterative filtering identified two variants of SLC13A5, one of which is novel, in the families. Families 1 and 2 had the same insertion (a previously reported mutation), leading to a frameshift and premature stop codon. The third family had a novel splice site variant. Confirmatory Sanger sequencing corroborated WES results and indicated full segregation of the variants in the corresponding families. The patients' conditions were poorly controlled by multiple antiepileptics as they needed constant care. Conclusion: Considering that recessive mutations are common in the Arab population, SLC13A5 screening should be prioritized in future patients harboring similar symptoms including defects in molar development.

Genetics of ataxia telangiectasia in a highly consanguineous population.

Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late-first or early-second decade of life with mixed movement disorders. Biallelic mutations in ataxia telangiectasia mutated gene (ATM) cause AT phenotype, a disease not well documented in Saudi Arabia, a highly consanguineous society. We studied several Saudi AT patients, identified ATM variants, and investigated associated clinical features. We included 17 patients from 12 consanguineous families. All patients had comprehensive clinical and radiological assessment, and most were examined through whole-exome sequencing (WES). Selected individuals were analyzed using various genetic approaches. We identified five different ATM variants in our patients: three previously reported mutations, and two novel variants. Nearly all patients had classical AT presentation except for two patients with a milder phenotype. Among the three known variants, a deletion causing truncation (c.381delA resulting in p.(Val128Ter)) was identified in 13 patients. Two patients harboured the other two truncating variants, (c.9001_9002delAG resulting in p.Ser3001Phefs*6) and (c.9066delA resulting in p.Glu3023Alafs*10) and two patients had novel compound heterozygous variants (NM_000051.3:Paternal Allele:c.8762C > G;p.Thr2921Arg and Maternal Allele:c.1057T > C;p.Cys353Arg). We speculate that c.381delA is a founder mutation in our population. This study provides a genotype-phenotype relationship in a previously unstudied consanguineous population. Our findings contribute to improve local clinical care, therapy, and genetic counseling.

Gene Therapy Knowledge and Attitude Among Healthcare Professionals: A Cross-Sectional Study.

This study aimed to assess healthcare professionals' knowledge, attitudes, and concerns toward gene therapy in Saudi Arabia. We conducted an online cross-sectional survey via convenience sampling during the period from December 2018 to March 2019. A total of 419 (358 pharmacists and 61 physicians) responded to our questionnaire. Three hundred and nine (73.7%) were male, and the mean (±SD) age of 32.0 ± 7.7 years. The mean knowledge scores of all participants, pharmacists, and physicians were 3.8 ± 1.9, 3.8 ± 1.9, and 3.7 ± 1.9, respectively (P = 0.73). Higher knowledge score was associated with younger age (Coefficient: -0.03; P = 0.02), male (Coefficient: 0.57; P = 0.01), master's degree (Coefficient: 0.93; P = 0.003) and Ph.D. holders (Coefficient: 1.10; P = 0.01), and participants graduated from Canada (Coefficient: 2.10; P = 0.01).Moreover, about half of the respondents (55%) were concerned about gene therapy, and genetics training at college was considered the best gene therapy education method by 69.4%. Attitude score was not significantly associated with the profession (P = 0.88) but positively correlated with the knowledge score (rho= 0.4; P < 0.001). In conclusion, pharmacists and physicians showed limited knowledge with a positive attitude toward gene therapy. Therefore, educational programs on gene therapy need to be considered, focusing primarily on the safety, and social acceptance of such new therapeutic management.

Nomophobia is Associated with Insomnia but Not with Age, Sex, BMI, or Mobile Phone Screen Size in Young Adults.

PURPOSE: NOMOPHOBIA (NO MObile PHone PhoBIA) or problematic smartphone use is a psychological disorder in which people are afraid of being cut off from their mobile phones. Currently, there has been no direct assessment of mobile phone screen size in the home setting and its effect on nomophobia and related symptoms, such as insomnia. Thus, we investigated the association between nomophobia, insomnia, and mobile phone screen size in a young adult population in Bahrain. PATIENTS AND METHODS: Using a descriptive, cross-sectional design, we surveyed participants aged 18 to 35 between August and September 2020 using an online questionnaire. Participants completed demographic questions and questions about personal mobile phones, the Nomophobia Questionnaire (NMP-Q), and the Insomnia Severity Index (ISI). The mobile phone screen size was determined using an open-source online database. Crude and adjusted regression analyses were fitted to examine the associations between the study variables. RESULTS: A total of 549 individuals, 54% females, were included in the final analyses. One hundred and fourteen participants (21%) had severe nomophobia, and 81 (14%) had clinical insomnia. A strong positive pair-wise linear association was observed between NMP-Q and ISI ß 0.15, P = 0.001. Age, sex, BMI, and mobile phone screen size showed no association with the NMP-Q. CONCLUSION: Nomophobia is very prevalent in young adult men and women, and it is closely associated with insomnia, regardless of mobile phone screen size, suggesting that mobile phone screen size should not be used as a proxy for hazardous usage.

Genetic Insights into the Middle East Respiratory Syndrome Coronavirus Infection among Saudi People.

BACKGROUND: The Middle East respiratory syndrome coronavirus (MERS-CoV) was isolated for the first time in Saudi Arabia from a patient suffering from atypical pneumonia. The Saudi Genome database was built by King Abdulaziz Medical City via the next-generation sequencing of 7000 candidates. METHOD: A large list of point mutations were reported in the region of the dipeptidyl peptidase 4 (DPP4) gene. The DPP4 amino acid residues correlated to MERS-CoV entry and the site of activity of DPP4 inhibitors was investigated. We retrieved the SNPs (Single-Nucleotide Polymorphism) with a variation frequency of >0.05. RESULTS: SNP 2:162,890,175 and SNP 2:162,891,848 in the intronic region were located within 50 bp of amino acid residues responsible for MERS-CoV entry, amino acids 259-296 and 205-258, respectively. The variation frequency of SNP 2:162,890,175 was 2321 out of 2379 screened individuals. Moreover, mutation of SNP 2:162,891,848, which is located near amino acid residues E205 and E206 (crucial for the activity of DPP4 inhibitors), occurred in 76 out of 2379 screened individuals. CONCLUSIONS: Our study shows high variation frequency in the DPP4 region reported in the Saudi Genome database. The identified SNPs are of high significance for MERS-CoV infection in better understanding disease pathogenesis.