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  1. Al-Qattan H, Al-Omairah H, Al-Hashash K, Al-Mutairi F, Al-Mutairat M, Al-Ajmi M, et al.
    Front Neurol, 2021;12:620799.
    PMID: 33889122 DOI: 10.3389/fneur.2021.620799
    Background: Obstructive sleep apnea (OSA) affects a considerable proportion of adults globally and is associated with elevated morbidity and mortality. Given the lack of epidemiologic data on the burden of OSA in Kuwait, this study sought to estimate its prevalence, associated risk factors, and comorbid conditions among a working population in Kuwait. Methods: This was a cross-sectional study of a sample of working adults (n = 651) from public institutions in Kuwait. High/low risk for OSA was ascertained according to the Berlin Questionnaire criteria. Participants self-reported their coexisting health conditions. Associations were assessed using Poisson regression with robust variance estimation; adjusted prevalence ratios (aPRs) and 95% confidence intervals (CIs) were estimated. Results: Overall, 20.0% (130/651) of participants were classified as being at high risk for OSA, with more male than female subjects being at high risk (24.0% [56/233] vs. 17.7% [74/418], P = 0.053), though this difference did not gain statistical significance. Moreover, a high risk for OSA was more common among older and obese subjects. Factors associated with increased prevalence of a high risk for OSA included current smoking status (aPR = 1.58, 95% CI: 1.02-2.06), longer hours spent watching television (1.76, 1.10-2.81), and lower self-perceived physical health (2.11, 1.15-3.87). However, decreasing trends in the prevalence of high risk for OSA were observed with frequent engagement in vigorous physical activity and longer nightly sleep duration. Compared to those at a low risk for OSA, the subjects at high risk for OSA were more likely to have insomnia disorder (2.83, 1.81-4.41), diabetes (1.94, 1.15-3.27), hypertension (3.00, 1.75-5.16), and depression (4.47, 1.80-11.08). Conclusion: This study estimated that 1/5 of working adults in Kuwait were at high risk for OSA, and the prevalence varied according to personal characteristics and lifestyle factors. Also, a high risk for OSA classification was associated with multiple comorbid health conditions.
  2. Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, et al.
    Clin Genet, 2024 Jun;105(6):620-629.
    PMID: 38356149 DOI: 10.1111/cge.14492
    PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of individuals with available brain imaging include delays in myelination, wavy outline of the bodies of the lateral ventricles, and slight prominence of the bodies of the lateral ventricles. PPP1R21-related neurodevelopmental disorder is associated with a consistent phenotype and should be considered in highly consanguineous individuals presenting with developmental delay/intellectual disability along with coarse facial features.
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