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    mutation associated with childhood focal epilepsy and acquired epileptic aphasia

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    electrophysiology. mutation on NMDAR function were evaluated by two-electrode voltage clamp current recordings and whole cell voltage clamp current recordings. mutation (Asp731Asn, GluN2A(D731N)) in a child with unexplained epilepsy and DD. The D731N mutation is located in a portion of the agonist-binding domain (ABD) in the GluN2A subunit, which is the binding pocket for agonist glutamate. This residue in the ABD is conserved among vertebrate species and all other NMDAR subunits, suggesting an important role in receptor function. The proband shows developmental delay as well as EEG-confirmed seizure activity. Functional analyses reveal that the GluN2A(D731N) mutation decreases glutamate potency by over 3,000-fold, reduces amplitude of current response, shortens synaptic-like response time course, and decreases channel open probability, while enhancing sensitivity to negative allosteric modulators, including extracellular proton and zinc inhibition. The combined effects reduce NMDAR function. gene in a patient with childhood focal epilepsy and acquired epileptic aphasia. The mutant decreases NMDAR activation suggesting NMDAR hypofunction may contribute to the epilepsy pathogenesis

    Trust in the health care professional and health outcome: A meta-analysis

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    To examine whether patients’ trust in the health care professional is associated with health outcomes.We searched 4 major electronic databases for studies that reported quantitative data on the association between trust in the health care professional and health outcome. We screened the full-texts of 400 publications and included 47 studies in our meta-analysis.We conducted random effects meta-analyses and meta-regressions and calculated correlation coefficients with corresponding 95% confidence intervals. Two interdependent researchers assessed the quality of the included studies using the Strengthening the Reporting of Observational Studies in Epidemiology guidelines.Overall, we found a small to moderate correlation between trust and health outcomes (r = 0.24, 95% CI: 0.19–0.29). Subgroup analyses revealed a moderate correlation between trust and self-rated subjective health outcomes (r = 0.30, 0.24–0.35). Correlations between trust and objective (r = -0.02, -0.08–0.03) as well as observer-rated outcomes (r = 0.10, -0.16–0.36) were non-significant. Exploratory analyses showed a large correlation between trust and patient satisfaction and somewhat smaller correlations with health behaviours, quality of life and symptom severity. Heterogeneity was small to moderate across the analyses.From a clinical perspective, patients reported more beneficial health behaviours, less symptoms and higher quality of life and to be more satisfied with treatment when they had higher trust in their health care professional. There was evidence for upward bias in the summarized results. Prospective studies are required to deepen our understanding of the complex interplay between trust and health outcomes

    Early computed tomography-based scores to predict decompressive hemicraniectomy after endovascular therapy in acute ischemic stroke

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    Identification of patients requiring decompressive hemicraniectomy (DH) after endovascular therapy (EVT) is crucial as clinical signs are not reliable and early DH has been shown to improve clinical outcome. The aim of our study was to identify imaging-based scores to predict the risk for space occupying ischemic stroke and DH.Prospectively derived data from patients with acute large artery occlusion within the anterior circulation and EVT was analyzed in this monocentric study. Predictive value of non-contrast cranial computed tomography (ncCT) and cerebral blood volume (CBV) Alberta Stroke Program Early CT score (ASPECTS) were investigated for DH using logistic regression models and Receiver Operating Characteristic Curve analysis.From 218 patients with EVT, DH was performed in 20 patients (9.2%). Baseline- (7 vs. 9; p = 0.009) and follow-up ncCT ASPECTS (1 vs. 7, p<0.001) as well as baseline CBV ASPECTS (5 vs. 7, p<0.001) were significantly lower in patients with DH. ncCT (baseline: OR 0.71, p = 0.018; follow-up: OR 0.32, p = <0.001) and CBV ASPECTS (OR 0.63, p = 0.008) predicted DH. Cut-off ncCT-ASPECTS on baseline was 7-, ncCT-ASPECTS on follow-up was 4- and CBV ASPECTS on baseline was 5 points.ASPECTS could be useful to early identify patients requiring DH after EVT for acute large vessel occlusion

    Association between tooth loss and cognitive decline: A 13-year longitudinal study of Chinese older adults

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    To examine the association between the number of teeth remaining and cognitive decline among Chinese older adults over a 13-year period.A large national longitudinal survey of Chinese older adultsThe Chinese Longitudinal Healthy Longevity Survey (CLHLS) (1998–2011).A total of 8,153 eligible participants aged 60+ interviewed in up to six waves.Cognitive function and teeth number were measured at each interview. Cognitive function was measured by the Mini-Mental Status Examination (MMSE). Number of natural teeth was self-reported. Individuals with severe cognitive impairment were excluded. Covariates included demographic characteristics, adult socioeconomic status characteristics, childhood socioeconomic status, health conditions, and health behaviors. Linear mixed models were applied in the analysis. < .001), suggesting that the participants who had more teeth showed a slower pace of cognitive decline over time than those with fewer teeth after controlling for other covariates.This study showed that tooth loss was associated with cognitive decline among Chinese older adults. Further studies are needed to examine the linkages between cognitive decline and oral health status using clinical examination data

    Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

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    Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM. severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology

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