A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes

BACKGROUND: Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome. METHODS: We did research on a family with two brothers showing Xq28 duplication syndrome using various molecular cytogenetic techniques such as multiplex ligation-dependent probe amplification and array-based genomic hybridization. RESULTS: The duplicated region had several genes including MECP2 and interleukin-1 receptor associated kinase 1 (IRAK1; MIM *300283). MECP2 and IRAK1 were associated with the neurological phenotypes in dose-sensitive and dose-critical manner. The brothers demonstrated severe intellectual disability, autistic features, generalized hypotonia, recurrent infections, epilepsy, choreiform movements such as hand-wringing movement, and moderate increased spasticity with the lower limbs. The X-inactivation test showed a complete skewed X inactivation pattern of mother. In this reason, the mother had the same loci duplication but showed significantly little neurological manifestation compared to the two sons. CONCLUSIONS: MECP2/IRAK1 duplication at Xq28 is inherited as an X-linked recessive trait and male-specific disorder associated with severe intellectual disability. We tried to analyze the information of the relationship between neuropsychiatric phenotype and the extent of duplication at Xq28 by comparing with previous reports. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12881-017-0394-7) contains supplementary material, which is available to authorized users

Global burden of asthma among children and adolescents with projections to 2050: a comprehensive review and forecasted modeling study

Understanding pediatric asthma is crucial to its effective diagnosis and intervention, as it may alleviate the adulthood disease burden. This epidemiological review describes the prevalence of asthma among individuals under 20 years of age by categorizing them into 3 age groups: 1–4, 5–9, and 10–19 years. Estimates were obtained from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021, which covered the prevalence of asthma from 1990 to 2021 across 21 GBD regions with 95% uncertainty intervals (UIs). We also projected the prevalence of pediatric asthma in 2050 by using a logistic regression predictive model from the existing literature and incorporating body mass index as a covariate with fixed coefficients over time. Overall, a continuous decline in asthma prevalence rates among children and adolescents was observed from 1990 to 2021, with higher rates in males and a peak prevalence rate in the 5–9 years group. Central Europe showed significantly increased prevalence rates compared to those of other regions. Our projection suggests that the prevalence rate of pediatric asthma will decline to approximately 2,608.05 per 100,000 population by 2050 (95% UI, 1,632.94–3,868.26), representing a 39.5% decrease from the 2021 figures. Despite these trends, asthma remains a substantial health burden for children and adolescents that may persist into adulthood. Therefore, proactive diagnosis and intervention are essential to mitigating the associated disease burden

Exploring the fear of clinical errors: associations with socio-demographic, professional, burnout, and mental health factors in healthcare workers – A nationwide cross-sectional study

BackgroundThe fear of clinical errors among healthcare workers (HCW) is an understudied aspect of patient safety. This study aims to describe this phenomenon among HCW and identify associated socio-demographic, professional, burnout and mental health factors.MethodsWe conducted a nationwide, online, cross-sectional study targeting HCW in France from May to June 2021. Recruitment was through social networks, professional networks, and email invitations. To assess the fear of making clinical errors, HCW were asked: “During your daily activities, how often are you afraid of making a professional error that could jeopardize patient safety?” Responses were collected on a 7-point Likert-type scale. HCW were categorized into “High Fear” for those who reported experiencing fear frequently (“once a week,” “a few times a week,” or “every day”), vs. “Low Fear” for less often. We used multivariate logistic regression to analyze associations between fear of clinical errors and various factors, including sociodemographic, professional, burnout, and mental health. Structural equation modeling was used to explore how this fear fits into a comprehensive theoretical framework.ResultsWe recruited a total of 10,325 HCW, of whom 25.9% reported “High Fear” (95% CI: 25.0–26.7%). Multivariate analysis revealed higher odds of “High Fear” among males, younger individuals, and those with less professional experience. High fear was more notable among physicians and nurses, and those working in critical care and surgery, on night shifts or with irregular schedules. Significant associations were found between “High Fear” and burnout, low professional support, major depressive disorder, and sleep disorders.ConclusionsFear of clinical errors is associated with factors that also influence patient safety, highlighting the importance of this experience. Incorporating this dimension into patient safety culture assessment could provide valuable insights and could inform ways to proactively enhance patient safety

Association between food insecurity and depressive symptoms among adolescents aged 12-15 years from 22 low- and middle-income countries

Food insecurity may be a risk factor for depression in adolescents. However, data on this topic from low- and middle-income countries (LMICs) are scarce, despite food insecurity being most common in LMICs. Therefore, we aimed to examine the association between food-insecurity and depressive symptoms among school-going adolescents from 22 LMICs. Cross-sectional data from the Global school-based Student Health Survey were analyzed. Self-report measures assessed past 12-month depressive symptoms and past 30-day food insecurity (hunger). Multivariable logistic regression and meta-analysis were conducted to assess associations. Data on 48,401 adolescents aged 12–15 years were analyzed [mean (SD) age 13.8 (0.9) years; 51.4 % females]. The prevalence of depressive symptoms was 29.3 %, and those of moderate and severe food insecurity were 45.0 and 6.3 %, respectively. After adjustment for potential confounders, compared to no food insecurity, the pooled OR (95 %CI) of moderate and severe food insecurity were 1.36 (1.30–1.42) and 1.81 (1.67–1.97), respectively. The level of between-country heterogeneity was low. Food insecurity was associated with significantly higher odds for depressive symptoms among adolescents in LMICs. Policies to address food insecurity may also help prevent depression in this population, pending future longitudinal research.</p

Association between humidifier disinfectant exposure during infancy and subsequent neuropsychiatric outcomes during childhood: a nation-wide cross-sectional study

Background The purpose was to determine the association between infant exposure to humidifier disinfectant (HD) with neuropsychiatric problems in pre-school children. Methods A total of 2,150 children (age 4–11 months) were enrolled in the Panel Study of Korean Children (PSKC) study. The Korean version of the Child Behavior Checklist (CBCL) was used for assessments of neuropsychiatric problems. 1,113 children who participated in all the first to third PSKC studies and answered a question about HD exposure were finally enrolled. Results There were 717 (64.5%) children in non-HD group who were not exposed to HD and 396 (35.5%) in HD group with former exposure to HD. Exposure to HD was associated with total neuropsychiatric problems (adjusted odds ratio, aOR = 1.54, 95% CI = 1.15–2.06), being emotionally reactive (aOR = 1.55, 95% CI = 1.00–2.39), having attention problems (aOR = 1.96, 95% CI = 1.10–3.47), having oppositional defiant problems (aOR = 1.70, 95% CI = 1.07–2.71), and having attention deficit/hyperactivity problems (aOR = 11.57, 95% CI = 1.03–2.38). The risks for neuropsychiatric problems were clearly increased in boy, firstborn, and secondary smoker. Conclusions Exposure to HD during early childhood had a potential association with subsequent behavioral abnormalities.This study was supported by a grant from the Seongnam Atopy Project of the Seongnam City Government, Republic of Korea

Association between sedentary behavior and dynapenic abdominal obesity among older adults from low- and middle-income countries

BACKGROUND: Sedentary behavior, or time spent sitting, may increase risk for dynapenic abdominal obesity (DAO), but there are currently no studies on this topic.AIMS: Therefore, we investigated the association between sedentary behaviour and DAO in a nationally representative sample of older adults from six low- and middle-income countries.METHODS: Cross-sectional data from the Study on Global AGEing and Adult Health were analysed. Dynapenia was defined as handgrip strength &lt; 26 kg for men and &lt; 16 kg for women. Abdominal obesity was defined as waist circumference of &gt; 88 cm (&gt; 80 cm for Asian countries) for women and &gt; 102 cm (&gt; 90 cm) for men. DAO was defined as having both dynapenia and abdominal obesity. Self-reported sedentary behavior was categorized as ≥ 8 h/day (high sedentary behaviour) or &lt; 8 h/day. Multivariable multinomial logistic regression was conducted.RESULTS: Data on 20,198 adults aged ≥ 60 years were analyzed [mean (SD) age 69.3 (13.1) years; 54.1% females]. In the overall sample, ≥ 8 h of sedentary behavior per day (vs. &lt;8 h) was significantly associated with 1.52 (95%CI = 1.11-2.07) times higher odds for DAO (vs. no dynapenia and no abdominal obesity), and this was particularly pronounced among males (OR = 2.27; 95%CI = 1.42-3.62). Highly sedentary behavior was not significantly associated with dynapenia alone or abdominal obesity alone.DISCUSSION: High sedentary behaviour may increase risk for DAO among older adults.CONCLUSIONS: Interventions to reduce sedentary behaviour may also lead to reduction of DAO and its adverse health outcomes, especially among males, pending future longitudinal research.</p