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We report two cases of respiratory toxigenic Corynebacterium diphtheriae infection in fully vaccinated UK born adults following travel to Tunisia in October 2019. Both patients were successfully treated with antibiotics and neither received diphtheria antitoxin. Contact tracing was performed following a risk assessment but no additional cases were identified. This report highlights the importance of maintaining a high index of suspicion for re-emerging infections in patients with a history of travel to high-risk areas outside Europe.
Background: Heterozygous loss-of-function mutations in the synaptic scaffolding gene SHANK2 are strongly associated with autism spectrum disorder (ASD). However, their impact on the function of human neurons is unknown. Derivation of induced pluripotent stem cells (iPSC) from affected individuals permits generation of live neurons to answer this question. Methods: We generated iPSCs by reprogramming dermal fibroblasts of neurotypic and ASD-affected donors. To isolate the effect of SHANK2, we used CRISPR/Cas9 to knock out SHANK2 in control iPSCs and correct a heterozygous nonsense mutation in ASD-affected donor iPSCs. We then derived cortical neurons from SOX1+ neural precursor cells differentiated from these iPSCs. Using a novel assay that overcomes line-to-line variability, we compared neuronal morphology, total synapse number, and electrophysiological properties between SHANK2 mutants and controls. Results: Relative to controls, SHANK2 mutant neurons have increased dendrite complexity, dendrite length, total synapse number (1.5-2-fold), and spontaneous excitatory postsynaptic current (sEPSC) frequency (3-7.6-fold). Conclusions: ASD-associated heterozygous loss-of-function mutations in SHANK2 increase synaptic connectivity among human neurons by increasing synapse number and sEPSC frequency. This is partially supported by increased dendrite length and complexity, providing evidence that SHANK2 functions as a suppressor of dendrite branching during neurodevelopment.
We aimed to assess the maternal and family determinants of four anthropometric typologies at the household level in Colombia for the years 2000, 2005 and 2010.
We classified children <5 years old according to height-for-age Z-score (<−2) and BMI-for-age Z-score (>2) to assess stunting and overweight/obesity, respectively; mothers were categorized according to BMI to assess underweight (<18·5 kg/m2) and overweight/obesity (≥25·0 kg/m2). At the household level, we established four final anthropometric typologies: normal, underweight, overweight and dual-burden households. Separate polytomous logistic regression models for each of the surveyed years were developed to examine several maternal and familial determinants of the different anthropometric typologies.
National and sub-regional (urban and rural) representative samples from Colombia, South America.
Drawing on data from three waves of Colombia’s Demographic and Health Survey/Encuesta Nacional de Salud (DHS/ENDS), we examined individual and household information from mothers (18–49 years) and their children (birth–5 years).
Higher parity was associated with an increased likelihood of overweight and dual burden. Higher levels of maternal education were correlated with lower prevalence of overweight, underweight and dual burden of malnutrition in all data collection waves. In 2010, participation in nutrition programmes for children <5 years, being an indigenous household, food purchase decisions by the mother and food security classification were also associated with the four anthropometric typologies.
Results suggest that maternal and family correlates of certain anthropometric typologies at the household level may be used to better frame policies aimed at improving social conditions and nutrition outcomes.
In this study, we employed Multiple Internal Reflection Infrared Spectroscopy (MIR-IR) to characterize chemical bonding structures of boron doped hydrogenated amorphous silicon (a-Si:H(B)). This technique has been shown to provide over a hundred fold increase of detection sensitivity when compared with conventional FTIR. Our MIR-IR analyses reveal an interesting counter-balance relationship between boron-doping and hydrogen-dilution growth parameters in PECVD-grown a-Si:H. Specifically, an increase in the hydrogen dilution ratio (H2/SiH4) was found to cause the increase in the Si-H bonding and a decrease in the B-H and SiH2 bonding, as evidenced by the changes in corresponding IR absorption peaks. In addition, although a higher boron dopant gas concentration was seen to increase the BH and SiH2 bonding, it also resulted in the decrease of the most stable SiH bonding configuration. The new chemical bonding information of a-Si:H thin film was correlated with the various boron doping mechanisms proposed by theoretical calculations.
The cognitive profile of early onset Parkinson’s disease (EOPD) has not been clearly defined. Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers. EOPD probands and their first-degree relatives who did not have Parkinson’s disease (PD) were genotyped for mutations in the parkin gene and administered a comprehensive neuropsychological battery. Performance was compared between EOPD probands with (N = 43) and without (N = 52) parkin mutations. The same neuropsychological battery was administered to 217 first-degree relatives to assess neuropsychological function in individuals who carry parkin mutations but do not have PD. No significant differences in neuropsychological test performance were found between parkin carrier and noncarrier probands. Performance also did not differ between EOPD noncarriers and carrier subgroups (i.e., heterozygotes, compound heterozygotes/homozygotes). Similarly, no differences were found among unaffected family members across genotypes. Mean neuropsychological test performance was within normal range in all probands and relatives. Carriers of parkin mutations, whether or not they have PD, do not perform differently on neuropsychological measures as compared to noncarriers. The cognitive functioning of parkin carriers over time warrants further study. (JINS, 2011, 17, 1–10)