Association Between Abnormal Fetal Head Growth and Autism Spectrum Disorder

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Comorbidity of fibromyalgia and psychiatric disorders

There are mounting data supporting comorbidity of fibromyalgia syndrome (FMS) and psychiatric conditions. These include depression, panic disorders, anxiety, and post-traumatic stress disorder (PTSD). The nature of the relationship between depression and FMS is not fully understood, and it was hypothesized that chronic pain causes depression, or vice versa, and that chronic pain syndromes are variants of depression. A link between PTSD symptoms and FMS has been reported, and both conditions share similar symptomatology and pathogenetic mechanisms. Assessment of comorbid psychiatric disorders in FMS patients has clinical implications because treatment in these patients should focus both on physical and emotional dimensions of dysfunction.     

Diurnal Fluctuations in HPA and Neuropeptide Y-ergic Systems Underlie Differences in Vulnerability to Traumatic Stress Responses at Different Zeitgeber Times

The hypothalamic–pituitary–adrenal (HPA) axis displays a characteristic circadian pattern of corticosterone release, with higher levels at the onset of the active phase and lower levels at the onset of the inactive phase. As corticosterone levels modify the response to stress and influence the susceptibility to and/or severity of stress-related sequelae, we examined the effects of an acute psychological trauma applied at different zeitgeber times (ZTs) on behavioral stress responses. Rats were exposed to stress either at the onset of the inactive-(light) phase (ZT=0) or at the onset of the active-(dark) phase (ZT=12). Their behavior in the elevated plus-maze and acoustic startle response paradigms were assessed 7 days post exposure for retrospective classification into behavioral response groups. Serum corticosterone levels and the dexamethasone suppression test were used to assess the stress response and feedback inhibition of the HPA axis. Immunoreactivity for neuropeptide Y (NPY) and NPY-Y1 receptor (Y1R) in the paraventricular (PVN) and arcuate (ARC) hypothalamic nuclei, hippocampus, and basolateral amygdala were measured. The behavioral effects of NPY/Y1R antagonist microinfused into the PVN 30 min before stress exposure during the inactive or active phase, respectively, were evaluated. PVN immunoreactivity for NPY and Y1R was measured 1 day after the behavioral tests. The time of day of the traumatic exposure markedly affected the pattern of the behavioral stress response and the prevalence of rats showing an extreme behavioral response. Rats exposed to the stressor at the onset of their inactive phase displayed a more traumatic behavioral response, faster post-exposure corticosterone decay, and a more pronounced stress-induced decline in NPY and Y1R expression in the PVN and arcuate hypothalamic nuclei. Blocking PVN Y1R before stress applied in the active phase, or administering NPY to the PVN before stress applied in the inactive phase, had a resounding behavioral effect. The time at which stress occurred significantly affected the behavioral stress response. Diurnal variations in HPA and NPY/Y1R significantly affect the behavioral response, conferring more resilience at the onset of the active phase and more vulnerability at the onset of the inactive phase, implying that NPY has a significant role in conferring resilience to stress-related psychopathology.     

Is there a relationship between executive functions and academic success in children with neurofibromatosis type 1?

The present study aimed to compare the executive function (EF) of children with neurofibromatosis type 1 (NF1) to those of typically developing children and to investigate whether those abilities could predict the child's academic success in terms of academic skills and enablers. Twenty-nine children with NF1 and 27 age-and-gender-matched controls (aged 8–16 years) were examined with two tests to measure EF in an ecologically valid manner: the Behavioural Assessment of the Dysexecutive Syndrome in Children (BADS-C) and the parent questionnaire for the Behavior Rating Inventory of Executive Function (BRIEF). In order to evaluate academic success we used the Academic Competence Evaluation Scales (ACES). The performance of the NF1 group was significantly lower on the Water and Key search subtest of the BADS-C and on four scales of the BRIEF: initiate; working memory; plan/organise and organisation of materials. Significant correlations and predictive models via regression analysis were generated for: BADS-C, BRIEF and ACES scores. Based on these findings, children with NF1 have executive dysfunction that partially accounts for their difficulties in academic achievements.     

Variable Phenotypes of Knockin Mice Carrying the M712T Gne Mutation

GNE myopathy is a recessive adult onset, slowly progressive distal and proximal myopathy, caused by mutations in the GNE gene. The most frequent mutation in GNE myopathy patients is the Middle Eastern founder mutation M712T. We have generated Gne ^M712T/M712T knockin mice. A high mortality rate in the first generation due to renal failure was recorded (as previously described). However, the following Gne ^M712T/M712T offspring generations could be classified into 3 phenotypic categories: severe, mild and without apparent phenotype. By further crossing between mice with no apparent phenotype, we were able to establish a colony of Gne ^M712T/M712T knockin mice with a high- and long-term survival rate, lacking any renal phenotype. These mice did not present any muscle phenotype (clinical or pathological) for up to 18 months. No correlation was found between the expression of any of the two mRNA Gne isoforms in muscle and the mouse genotype or phenotype. However, the expression of isoform 2 mRNA was significantly higher in the kidney of Gne ^M712T/M712T kidney affected mice compared with control. In contrast, the expression of UPR markers Bip, Chop and of the spliced form of XBP1, was upregulated in muscle of Gne ^M712T/M712T mice compared with controls, but was unchanged in the affected kidney. Thus, Gne defects can affect both muscle and kidney in mouse, but probably through different mechanisms.     

Trends and risk factors for mortality in elderly burns patients: A retrospective review

IntroductionThe elderly experience higher mortality rates and poorer outcomes compared to younger burn survivors with similar injuries.MethodsThis epidemiological study reviewed records of all admitted elderly burn patients collected from five burns facilities in Israel between 1997–2016. Collected data was limited to the population aged 20+, focused on the population aged 60+.ResultsMortality rates for elderly patients increased with TBSA and increases with age. Regression analyses demonstrated a decrease in mortality of 2.9% (p = 0.013) per 5 years, an overall decrease of 11.6% over the 20-year study period, with the decline more significant for older age groups. This decrease in mortality was much larger than that observed for all burns patients over this period. The most common cause of injury in the elderly population was fire, with mortality rate highest for this cause. There was no effect of gender on mortality rate. Mortality increased when smoke inhalation was present for TBSA<20%, with mortality unaffected by the presence of smoke inhalation for higher TBSA. The need for surgery correlates with high mortality rates.ConclusionThis study identified key factors that impact mortality and demonstrated a large decrease in mortality in the elderly patients over the study period.