Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.

Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically

Milling plant and soil material in plastic tubes over-estimates carbon and under-estimates nitrogen concentrations

Peer reviewedPostprin

Nitrogen and phosphorus availability interact to modulate leaf trait scaling relationships across six plant functional types in a controlled-environment study

Nitrogen (N) and phosphorus (P) have key roles in leaf metabolism, resulting in a strong coupling of chemical composition traits to metabolic rates in field-based studies. However, in such studies, it is difficult to disentangle the effects of nutrient supply per se on trait-trait relationships. Our study assessed how high and low N (5 mM and 0.4 mM, respectively) and P (1 mM and 2 μM, respectively) supply in 37 species from six plant functional types (PTFs) affected photosynthesis (A) and respiration (R) (in darkness and light) in a controlled environment. Low P supply increased scaling exponents (slopes) of area-based log-log A-N or R-N relationships when N supply was not limiting, whereas there was no P effect under low N supply. By contrast, scaling exponents of A-P and R-P relationships were altered by P and N supply. Neither R : A nor light inhibition of leaf R was affected by nutrient supply. Light inhibition was 26% across nutrient treatments; herbaceous species exhibited a lower degree of light inhibition than woody species. Because N and P supply modulates leaf trait-trait relationships, the next generation of terrestrial biosphere models may need to consider how limitations in N and P availability affect trait-trait relationships when predicting carbon exchange

Developmental Defects of Enamel in Primary Teeth and Association with Early Life Course Events: A Study of 6--36 Month old Children in Manyara, Tanzania.

Children with low birth weight show an increased prevalence of developmental defects of enamel in the primary dentition that subsequently may predispose to early childhood caries (ECC).Focusing 6--36 months old, the purpose of this study was to assess the frequency of enamel defects in the primary dentition and identify influences of early life course factors; socio-demographics, birth weight, child's early illness episodes and mothers' perceived size of the child at birth, whilst controlling for more recent life course events in terms of current breastfeeding and oral hygiene. A cross-sectional study was conducted in the high fluoride area of Manyara, northern Tanzania including 1221 child-mother pairs who attended Reproductive and Child Health (RCH) clinics for immunization and/or growth monitoring. After the primary caregivers had completed face to face interviews at the health care facility, children underwent oral clinical examination whereby ECC and developmental defects of enamel were recorded using field criteria. All erupted teeth were examined and the enamel defects were assessed on buccal surfaces according to the modified DDE Index. The prevalence of enamel defects was 33.3%. Diffuse opacities were the most common defects identified (23.1%), followed by hypoplasia (7.6%) and demarcated opacities (5.0%). The most frequently affected teeth were the upper central incisors (29.0% - 30.5%), whereas lower central incisors (4.3% to 4.5%) were least frequently affected. Multiple logistic regression analysis, adjusting for confounding the factors revealed that having normal birth weight (equal or more than 2500 g) associated with lower odds of having enamel hypoplasia [OR 0.22 (95% CI 0.1-0.7)]. No statistically significant association occurred between birth weight and diffuse opacities, demarcated opacities or combined DDE. Children with the history of low birth weight were more likely than their normal birth weight counterparts to present with enamel hypoplasia. In view of the frequent occurrence of enamel defects and the fact that hypoplasia may constitute a risk factor for future ECC, enamel defects should be included as a dental health indicator in epidemiological studies of children in northern Tanzania

Randomized controlled trial of a good practice approach to treatment of childhood obesity in Malaysia: Malaysian childhood obesity treatment trial (MASCOT)

Context. Few randomized controlled trials (RCTs) of interventions for the treatment of childhood obesity have taken place outside the Western world. Aim. To test whether a good practice intervention for the treatment of childhood obesity would have a greater impact on weight status and other outcomes than a control condition in Kuala Lumpur, Malaysia. Methods. Assessor-blinded RCT of a treatment intervention in 107 obese 7- to 11-year olds. The intervention was relatively low intensity (8 hours contact over 26 weeks, group based), aiming to change child sedentary behavior, physical activity, and diet using behavior change counselling. Outcomes were measured at baseline and six months after the start of the intervention. Primary outcome was BMI z-score, other outcomes were weight change, health-related quality of life (Peds QL), objectively measured physical activity and sedentary behavior (Actigraph accelerometry over 5 days). Results. The intervention had no significant effect on BMI z score relative to control. Weight gain was reduced significantly in the intervention group compared to the control group (+1.5 kg vs. +3.5 kg, respectively, t-test p < 0.01). Changes in health-related quality of life and objectively measured physical activity and sedentary behavior favored the intervention group. Conclusions. Treatment was associated with reduced rate of weight gain, and improvements in physical activity and quality of life. More substantial benefits may require longer term and more intensive interventions which aim for more substantive lifestyle changes

Limited effect of patient and disease characteristics on compliance with hospital antimicrobial guidelines

Objective: Physicians frequently deviate from guidelines that promote prudent use of antimicrobials. We explored to what extent patient and disease characteristics were associated with compliance with guideline recommendations for three common infections. Methods: In a 1-year prospective observational study, 1,125 antimicrobial prescriptions were analysed for compliance with university hospital guidelines. Results: Compliance varied significantly between and within the groups of infections studied. Compliance was much higher for lower respiratory tract infections (LRTIs; 79%) than for sepsis (53%) and urinary tract infections (UTIs; 40%). Only predisposing illnesses and active malignancies were associated with more compliant prescribing, whereas alcohol/ intravenous drug abuse and serum creatinine levels > 130 mu mol/l were associated with less compliant prescribing. Availability of culture results had no impact on compliance with guidelines for sepsis but was associated with more compliance in UTIs and less in LRTIs. Narrowing initial broad-spectrum antimicrobial therapy to cultured pathogens was seldom practised. Most noncompliant prescribing concerned a too broad spectrum of activity when compared with guideline-recommended therapy. Conclusion: Patient characteristics had only a limited impact on compliant prescribing for a variety of reasons. Physicians seemed to practise defensive prescribing behaviour, favouring treatment success in current patients over loss of effectiveness due to resistance in future patients

Continuous-mode 448 kHz capacitive resistive monopolar radiofrequency induces greater deep blood flow changes compared to pulsed mode shortwave: a crossover study in healthy adults

This document is the Accepted Manuscript version of the following article: Binoy Kumaran, Anthony Herbland and Tim Watson, ‘Continuous-mode 448 kHz capacitive resistive monopolar radiofrequency induces greater deep blood flow changes compared to pulsed mode shortwave: a crossover study in healthy adults’, European Journal of Physiotheraphy, first published online 20 April 2017. The version of record is available online at doi: http://dx.doi.org/10.1080/21679169.2017.1316310. © 2017 Informa UK Limited, trading as Taylor & Francis Group.Aims: Radiofrequency-based electrophysical agents (EPAs) have been used in therapy practice over several decades (e.g. shortwave therapies). Currently, there is insufficient evidence supporting such EPAs operating below shortwave frequencies. This laboratory-based study investigated the deep physiological effects of 448 kHz capacitive resistive monopolar radiofrequency (CRMRF) and compared them to pulsed shortwave therapy (PSWT). Methods: In a randomized crossover study, 17 healthy volunteers initially received four treatment conditions: high, low and placebo dose conditions receiving 15-min CRMRF treatment and a control condition receiving no intervention. Fifteen participants additionally received high-dose PSWT as fifth condition, for comparison. Pre- and post-treatment measurements of deep blood flow and tissue extensibility were obtained using Doppler ultrasound and sonoelastography. Group data were compared using analysis of variance model. Statistical significance was set at p ≤ .05, 0.8 power, and 95% confidence interval. Results: Significant increases in volume and intensity of deep blood flow were obtained with CRMRF over placebo, control (p = .003) and PSWT (p < .001). No significant changes in blood flow velocity or tissue extensibility were noted for any condition. Conclusions: Deep blood flow changes with CRMRF were more pronounced than that with PSWT, placebo or control. Potential greater therapeutic benefits need to be confirmed with comparative clinical studies.Peer reviewe

The Mental Health Status of Secondary School Teachers amidst the COVID-19 Pandemic in Batanes

The well-being of teachers influences the well-being of the students in ways that influence the mental health trajectory of future generations. However, when the pandemic started, lockdowns and the closure of schools caused teachers to suffer stress because they needed to adapt policies to provide learning.  Thus, the changes in work methods have caused mental health issues among teachers. The study aimed to describe the anxiety, stress, and depression among secondary school teachers in Batanes. By considering the level of these mental health issues teachers are experiencing, institutions might be in a better position to put in place the relevant support structures that may be needed.  This study utilized a quantitative research approach and was conducted in all secondary schools in the province. The study was conducted among 73 secondary school teachers, 17 males and 56 females aged 23 to 59. A three-part survey questionnaire was used to gather data in the study – Consent Form, Demographic Profile, and Depression, Anxiety, and Stress Scale-21 (DASS-21). Results show that they experience moderate anxiety and a normal level of depression and stress. Teachers were significantly affected by the occupational stress during the suspension of face-to-face classes and the impacts associated with the pandemic