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Young people with 22q11.2 deletion syndrome (22q11.2DS) are at high risk for neurodevelopmental disorders. Sleep problems may play a role in this risk but their prevalence, nature and links to psychopathology and cognitive function remain undescribed in this population.
Sleep problems, psychopathology, developmental coordination and cognitive function were assessed in 140 young people with 22q11.2DS (mean age = 10.1, s.d. = 2.46) and 65 unaffected sibling controls (mean age = 10.8, s.d.SD = 2.26). Primary carers completed questionnaires screening for the children's developmental coordination and autism spectrum disorder.
Sleep problems were identified in 60% of young people with 22q11.2DS compared to 23% of sibling controls (OR 5.00, p < 0.001). Two patterns best-described sleep problems in 22q11.2DS: restless sleep and insomnia. Restless sleep was linked to increased ADHD symptoms (OR 1.16, p < 0.001) and impaired executive function (OR 0.975, p = 0.013). Both patterns were associated with elevated symptoms of anxiety disorder (restless sleep: OR 1.10, p = 0.006 and insomnia: OR 1.07, p = 0.045) and developmental coordination disorder (OR 0.968, p = 0.0023, and OR 0.955, p = 0.009). The insomnia pattern was also linked to elevated conduct disorder symptoms (OR 1.53, p = 0.020).
Clinicians and carers should be aware that sleep problems are common in 22q11.2DS and index psychiatric risk, cognitive deficits and motor coordination problems. Future studies should explore the physiology of sleep and the links with the neurodevelopment in these young people.
Despite children’s unique vulnerability, clinical guidance and resources are lacking around the use of radiation medical countermeasures (MCMs) available commercially and in the Strategic National Stockpile to support immediate dispensing to pediatric populations. To better understand the current capabilities and shortfalls, a literature review and gap analysis were performed.
A comprehensive review of the medical literature, Food and Drug Administration (FDA)-approved labeling, FDA summary reviews, medical references, and educational resources related to pediatric radiation MCMs was performed from May 2016 to February 2017.
Fifteen gaps related to the use of radiation MCMs in children were identified. The need to address these gaps was prioritized based upon the potential to decrease morbidity and mortality, improve clinical management, strengthen caregiver education, and increase the relevant evidence base.
Key gaps exist in information to support the safe and successful use of MCMs in children during radiation emergencies; failure to address these gaps could have negative consequences for families and communities. There is a clear need for pediatric-specific guidance to ensure clinicians can appropriately identify, triage, and treat children who have been exposed to radiation, and for resources to ensure accurate communication about the safety and utility of radiation MCMs for children. (Disaster Med Public Health Preparedness. 2019;13:639-646)
A parathyroid multidisciplinary team meeting was set up at East Sussex Healthcare Trust, from November 2014 to November 2015, in order to improve and streamline services for patients with parathyroid pathology.
Data were collected on all new referrals for hyperparathyroidism, and on the outcomes for each patient discussed at the meeting, including the number of operations and management outcomes. A survey was sent out to the members of the multidisciplinary team meeting to determine their perception of its effectiveness.
Seventy-nine new referrals were discussed throughout the year; 43 per cent were recommended for surgery, 41 per cent had a trial of conservative or medical management before re-discussion, and 16 per cent required further imaging. Ninety-two per cent of patients underwent an ultrasound, single-photon emission computed tomography/computed tomography or nuclear medicine (sestamibi) scan prior to the meeting. All ultrasound scans were performed by a consultant radiologist.
The multidisciplinary team meeting has been successful, with perceived benefits for patients, improved imaging evaluation and efficiency of referral pathways, leading to more appropriate patient management.
In addition to assessing rate and extent of gas production from fermenting forages in vitro with rumen micro-organisms, gas production methods (e.g. Theodorou et at, 1994) may be used also to study the degradation kinetics of forage dry matter and its fractions. As the substrate dry matter can be lost only through fermentation or solution, this removes the error inherent in the polyester bag method caused by fine particle losses from bags being deemed part of the ‘soluble’ fraction.
The pressure transducer technique (PTT) of Theodorou et al. (1994) was used to measure gas production from nine tropical forage samples (Table 1). Nine bottles were prepared from each of the forage samples. Two bottles of each forage were harvested after 8, 24 and 48 h of incubation and a further three bottles at 72 h, to determine dry matter (DM) and organic matter (OM) losses. The same nine forages were assessed using the polyester bag method (Mehrez and Ørskov, 1977) to obtain DM and OM disappearance after rumen incubations of 4, 8, 24, 48 and 72 h. The soluble fraction was determined by hand washing. The reproducibility of measured losses, at given times, was examined using concordance (rc) correlation (Lin, 1989) and mean square prediction error (MSPE, Bibby and Toutenberg, 1977). Also the simple exponential model was used to estimate the fractional rate of DM degradation (kd) and asymptote A (%) for each forage and the values obtained using PTT (kd,ptt) and in situ (kd,bag) compared using rc and MSPE.
Particle image velocimetry and filtered Rayleigh scattering experiments were performed over a range of Reynolds numbers to study the scaling and structure of a smooth, flat-plate turbulent boundary layer with a free stream Mach number of 7.5. The measurements indicate few, if any, dynamic differences due to Mach number. Mean and fluctuating streamwise velocities in the outer layer show strong similarity to incompressible flows at comparable Reynolds numbers when scaled according to van Driest and Morkovin. In addition, correlation lengths and structure angles based on velocity statistics were found to be less sensitive to compressibility than indicated by previous studies based on density fields or mass-weighted statistics, suggesting that the density and velocity fields obey different scaling. Finally, the boundary layer displays uniform momentum zones, with the number of these zones similar to incompressible boundary layers at comparable Reynolds numbers.
Depression and obesity are highly prevalent, and major impacts on public health frequently co-occur. Recently, we reported that having depression moderates the effect of the FTO gene, suggesting its implication in the association between depression and obesity.
To confirm these findings by investigating the FTO polymorphism rs9939609 in new cohorts, and subsequently in a meta-analysis.
The sample consists of 6902 individuals with depression and 6799 controls from three replication cohorts and two original discovery cohorts. Linear regression models were performed to test for association between rs9939609 and body mass index (BMI), and for the interaction between rs9939609 and depression status for an effect on BMI. Fixed and random effects meta-analyses were performed using METASOFT.
In the replication cohorts, we observed a significant interaction between FTO, BMI and depression with fixed effects meta-analysis (β=0.12, P = 2.7 × 10−4) and with the Han/Eskin random effects method (P = 1.4 × 10−7) but not with traditional random effects (β = 0.1, P = 0.35). When combined with the discovery cohorts, random effects meta-analysis also supports the interaction (β = 0.12, P = 0.027) being highly significant based on the Han/Eskin model (P = 6.9 × 10−8). On average, carriers of the risk allele who have depression have a 2.2% higher BMI for each risk allele, over and above the main effect of FTO.
This meta-analysis provides additional support for a significant interaction between FTO, depression and BMI, indicating that depression increases the effect of FTO on BMI. The findings provide a useful starting point in understanding the biological mechanism involved in the association between obesity and depression.
To achieve their conservation goals individuals, communities and organizations need to acquire a diversity of skills, knowledge and information (i.e. capacity). Despite current efforts to build and maintain appropriate levels of conservation capacity, it has been recognized that there will need to be a significant scaling-up of these activities in sub-Saharan Africa. This is because of the rapid increase in the number and extent of environmental problems in the region. We present a range of socio-economic contexts relevant to four key areas of African conservation capacity building: protected area management, community engagement, effective leadership, and professional e-learning. Under these core themes, 39 specific recommendations are presented. These were derived from multi-stakeholder workshop discussions at an international conference held in Nairobi, Kenya, in 2015. At the meeting 185 delegates (practitioners, scientists, community groups and government agencies) represented 105 organizations from 24 African nations and eight non-African nations. The 39 recommendations constituted six broad types of suggested action: (1) the development of new methods, (2) the provision of capacity building resources (e.g. information or data), (3) the communication of ideas or examples of successful initiatives, (4) the implementation of new research or gap analyses, (5) the establishment of new structures within and between organizations, and (6) the development of new partnerships. A number of cross-cutting issues also emerged from the discussions: the need for a greater sense of urgency in developing capacity building activities; the need to develop novel capacity building methodologies; and the need to move away from one-size-fits-all approaches.
Low birth weight is associated with increased risk of cardiovascular disease in adulthood. Intrauterine growth restriction (IUGR) hearts have fewer CMs in early postnatal life, which may impair postnatal cardiovascular function and hence, explain increased disease risk, but whether the cardiomyocyte deficit persists to adult life is unknown. We therefore studied the effects of experimentally induced placental restriction (PR) on cardiac outcomes in young adult sheep. Heart size, cardiomyocyte number, nuclearity and size were measured in control (n=5) and PR (n=5) male sheep at 1 year of age. PR lambs were 36% lighter at birth (P=0.007), had 38% faster neonatal relative growth rates (P=0.001) and had 21% lighter heart weights relative to body weight as adults (P=0.024) than control lambs. Cardiomyocyte number, nuclearity and size in the left ventricle did not differ between control and PR adults; hearts of both groups contained cardiomyocytes (CM) with between one and four nuclei. Overall, cardiomyocyte number in the adult left ventricle correlated positively with birth weight but not with adult weight. This study is the first to demonstrate that intrauterine growth directly influences the complement of CM in the adult heart. Cardiomyocyte size was not correlated with cardiomyocyte number or birth weight. Our results suggest that body weight at birth affects lifelong cardiac functional reserve. We hypothesise that decreased cardiomyocyte number of low birth weight individuals may impair their capacity to adapt to additional challenges such as obesity and ageing.
Objectives: To examine whether apolipoprotein e4 (APOE) status moderates the association of family environment with child functioning following early traumatic brain injury (TBI). Methods: Sixty-five children with moderate to severe TBI and 70 children with orthopedic injury (OI) completed assessments 6, 12, 18 months, and 3.5 and 6.8 years post injury. DNA was extracted from saliva samples and genotyped for APOE e4 status. Linear mixed models examined moderating effects of APOE e4 status on associations between two family environment factors (parenting style, home environment) and three child outcomes (executive functioning, behavioral adjustment, adaptive functioning). Results: Children with TBI who were carriers of the e4 allele showed poorer adaptive functioning relative to non-carriers with TBI and children with OI in the context of low authoritarianism. At high levels of authoritarianism, non-carriers with TBI showed the poorest adaptive functioning among groups. There were no main effects or interactions involving APOE and executive functioning or behavioral adjustment. Conclusions:The APOE e4 allele was detrimental for long-term adaptive functioning in the context of positive parenting, whereas in less optimal parenting contexts, being a non-carrier was detrimental. We provide preliminary evidence for an interaction of APOE e4 status and parenting style in predicting long-term outcomes following early TBI. (JINS, 2016, 22, 859–864)
The SUSI control system is a distributed real-time system currently consisting of 17 processors. A custom real-time operating system and network protocols ensure synchronous operation of servo loops across multiple processors.
Since the last General Assembly in Patras, Greece, we have held three meetings of the Working Group. The 10th Meeting was held in Mzkheta, the ancient capital of Georgia, USSR, hosted by their Academy of Sciences on April 3-7, 1984. All members except one, who was represented by a member of his Task Group, were present at the very productive meeting.
During past three years from 1982 to 1984 we saw the further progress in the planets and satellites research by the space and ground-based technique, in the analysis and interpretation of the observational data. Inspite of some decrease of the activity in the planetary spacecrafts launches during this period (except of two Soviet missions to Venus) many important scientific results were obtained from the continued reduction and analysis of the measurements which were performed by Mariner 10 (Mercury), Pioneer Venus, Venera 13 and 14, Viking (Mars), Pioneer 10 and 11, and Voyager 1 and 2.
The physical study of planets and satellites is probably one of the more active fields of research of the second half of this century. This is due to space exploration by spacecraft, but also to the use of modern detectors, of large ground-based telescopes, and of powerful computers by active researchers. Planetary research (or planetology) is a pluridisciplinary domain, which requires not only the competence of astronomers, but also of geophysicists, of mineralogists, of climatologists, of biologists, of chemists, of physicists, of “pure„ mathematicians, and many other scientists. Many results are at the boundary of those of other commissions such as the 15, 20, 7, 19, 33, 40, 44, 49 and 51 ones. The study of the main results obtained during this last triennum shows a perfect complementarity between space and ground-based observations. It should be arbitrary to separate space and ground-based scientists. The have the same goal and they study the same objects. Quite often, the same individuals use both techniques, depending on the most efficient one for the problem under study. It is remarkable to see that space data collected more than ten years ago are still analysed in connection with ground-based observations. The same remarks can apply for ground-based data. In addition to that, new theoretical models, new numerical simulations and new laboratory experiments have ben recently developed. They all contribute to a better understanding of planets and satellites physics.
Major depressive disorder (MDD) is a common and disabling condition with well-established heritability and environmental risk factors. Gene–environment interaction studies in MDD have typically investigated candidate genes, though the disorder is known to be highly polygenic. This study aims to test for interaction between polygenic risk and stressful life events (SLEs) or childhood trauma (CT) in the aetiology of MDD.
The RADIANT UK sample consists of 1605 MDD cases and 1064 controls with SLE data, and a subset of 240 cases and 272 controls with CT data. Polygenic risk scores (PRS) were constructed using results from a mega-analysis on MDD by the Psychiatric Genomics Consortium. PRS and environmental factors were tested for association with case/control status and for interaction between them.
PRS significantly predicted depression, explaining 1.1% of variance in phenotype (p = 1.9 × 10−6). SLEs and CT were also associated with MDD status (p = 2.19 × 10−4 and p = 5.12 × 10−20, respectively). No interactions were found between PRS and SLEs. Significant PRSxCT interactions were found (p = 0.002), but showed an inverse association with MDD status, as cases who experienced more severe CT tended to have a lower PRS than other cases or controls. This relationship between PRS and CT was not observed in independent replication samples.
CT is a strong risk factor for MDD but may have greater effect in individuals with lower genetic liability for the disorder. Including environmental risk along with genetics is important in studying the aetiology of MDD and PRS provide a useful approach to investigating gene–environment interactions in complex traits.
Information-processing biases may contribute to the intergenerational transmission of depression. There is growing evidence that children of depressed mothers exhibit attentional biases for sad faces. However, findings are mixed as to whether this bias reflects preferential attention toward, versus attentional avoidance of, sad faces, suggesting the presence of unmeasured moderators. To address these mixed findings, we focused on the potential moderating role of genes associated with hypothalamic–pituitary–adrenal axis reactivity. Participants included children (8–14 years old) of mothers with (n = 81) and without (n = 81) a history of depression. Eye movements were recorded while children passively viewed arrays of angry, happy, sad, and neutral faces. DNA was obtained from buccal cells. Children of depressed mothers exhibited more sustained attention to sad faces than did children of nondepressed mothers. However, it is important that this relation was moderated by children's genotype. Specifically, children of depressed mothers who carried reactive genotypes across the corticotropin-releasing hormone type 1 receptor (CHRH1) TAT haplotype and FK506 binding protein 5 (FKBP5) rs1360780 (but not the solute carrier family C6 member 4 [SLC6A4] of the serotonin transporter linked polymorphic region [5-HTTLPR]) exhibited less sustained attention to sad faces and more sustained attention to happy faces. These findings highlight the role played by specific genetic influences and suggest that previous mixed findings may have been due to genetic heterogeneity across the samples.
Anxiety disorders increase the risk of onset of several ageing-related somatic conditions, which might be the consequence of accelerated cellular ageing.
To examine the association between anxiety status and leukocyte telomere length (LTL) as an indicator of cellular ageing.
Data are from individuals with current (n = 1283) and remitted (n = 459) anxiety disorder, and controls (n = 582) with no psychiatric disorder from the Netherlands Study of Depression and Anxiety. We determined DSM-IV anxiety diagnoses and clinical characteristics by structured psychiatric interviews and self-report questionnaires; LTL was assessed using quantitative polymerase chain reaction and converted into base pairs (bp).
Patients in the current anxiety group (bp = 5431) had significantly shorter LTL compared with the control group (bp = 5506, P = 0.01) and the remitted anxiety group (bp = 5499, P = 0.03) in analyses adjusted for sociodemographics, health and lifestyle. The remitted anxiety group did not differ from the control group (P = 0.84), however, time since remission was positively related with LTL. Furthermore, anxiety severity scores were associated with LTL in the whole sample, in line with a dose–response association.
Patients with current – but not remitted – anxiety disorder had shorter telomere length, suggesting a process of accelerated cellular ageing, which in part may be reversible after remission.
Estimation of survival rates is important for developing and evaluating conservation options for large carnivores. However, telemetry studies for large carnivores are often characterized by small sample sizes that limit meaningful conclusions. We used data from 10 published and 8 unpublished studies of leopards Panthera pardus in southern Africa to estimate survival rates and investigate causes of leopard mortality. Mean survival rates were significantly lower in non-protected (0.55 ± SE 0.08) compared to protected areas (0.88 ± 0.03). Inside protected areas juveniles had significantly lower survival (0.39 ± 0.10) compared to subadults (0.86 ± 0.07) and adults (0.88 ± 0.04). There was a greater difference in cause of death between protected and non-protected areas for females compared to males, with people being the dominant cause of mortality outside protected areas for both females and males. We suggest there is cause for concern regarding the sustainability of leopard populations in South Africa, as high female mortality may have severe demographic effects and a large proportion of suitable leopard habitat lies in non-protected areas. However, because a large proportion of deaths outside protected areas were attributed to deliberate killing by people, we suggest that management interventions may have the potential to increase leopard survival dramatically. We therefore stress the urgency to initiate actions, such as conflict mitigation programmes, to increase leopard survival in non-protected areas.
In this study electrochemical and surface analysis were carried out in order to provide preliminary information to diagnose the state of conservation of two bronze bells from two Colonial religious building from San Francisco de Campeche City: The Cathedral of Nuestra Señora de la Purísima Concepción and the Ex-temple of San José. Small corroded bronze samples were retired from each bell and analyzed by using optical microscopy in order to observe the distribution of the oxides over metal surface. Complementary XRD analysis was used to identify crystalline phases formed as a consequence of bells interaction with the urban tropical environment of this city. Electrochemical techniques such as linear polarization resistance (Rp) and potentiodynamic curve (CP) were conducted “in situ” in order to evaluate the behavior of bell bronze patinas under the action of two artificial solutions that recreate typical electrolyte formed over corroded metal surfaces in urban environments.