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Retrospective observational study to determine diagnostic yield and utility of genetic testing in children with epilepsy attending the Epilepsy Clinic at Children’s Hospital, London, Ontario, Canada.
Children (birth–18 years) with epilepsy, who were seen in a 10-year period (January 1, 2008–March 31, 2018), were selected using defined inclusion criteria and by combining clinic datasets and laboratory records.
In total, 105 children (52.38% male and 47.61% female) with a variety of seizures were included in the analysis. Developmental delay was documented in the majority (83; 79.04%). Overall, a genetic diagnosis was established in 24 (22.85%) children. The diagnostic yield was highest for whole-exome sequencing (WES), at 35.71%. The yield from microarray was 8.33%. Yields of single-gene testing (18.60%) and targeted multigene panel testing (19.23%) were very similar. Several likely pathogenic and pathogenic variants not previously reported were identified and categorized using ACMG criteria. All diagnosed patients underwent a review of anti-seizure medication management and received counseling on natural history of their disease, possible complications, recurrence risks, and possibilities of preimplantation or prenatal genetic diagnosis.
Our study confirms the multiple benefits of detecting a genetic etiology in children with epilepsy. Similar yields in single versus multigene testing underscore the importance of accurate clinical phenotyping. Patients with epilepsy and their caregivers in Ontario would undoubtedly benefit from repatriation of multigene panels and WES to the province.
Salmonella is a leading cause of foodborne outbreaks in Taiwan. On 27 April 2018, a salmonellosis outbreak among customers of a restaurant was reported to the Taiwan CDC. We investigated the outbreak to identify infection sources and prevent further transmission. We interviewed ill customers and their dining companions. We conducted a case-control study to identify foods associated with the illness. Case-patients were those who had diarrhoea within 72 h after eating at the restaurant during 16–27 April 2018. Specimens, food samples and environmental samples were collected and tested for enteric pathogens. Salmonella isolates were analysed with pulse-field gel electrophoresis and whole-genome sequencing. We inspected the restaurant sanitation and reviewed kitchen surveillance camera recordings. We identified 47 case-patients, including one decedent. Compared with 44 controls, case-patients were more likely to have had a French toast sandwich (OR: 102.4; 95% CI: 18.7–952.3). Salmonella Enteritidis isolates from 16 case-patients shared an indistinguishable genotype. Camera recordings revealed eggshell contamination, long holding time at room temperature and use of leftovers during implicated food preparation. Recommendations for restaurant egg-containing food preparation are to use pasteurised egg products and ensure a high enough cooking temperature and long enough cooking time to prevent Salmonella contamination.
Individuals with bipolar disorder respond to affective symptoms with a range of coping behaviours, which may further maintain the symptoms.
To examine moment-to-moment dynamics between affective states and coping behaviours, and to evaluate the role of cognitive appraisals of internal states as moderators.
Forty-six individuals with bipolar disorder completed a clinical interview and an experience sampling assessment over 6 days. Time-lagged analyses were conducted by multilevel regression modelling.
A total of 1807 momentary entries were analysed. Negative affect predicted an increase in rumination at the subsequent time point (β = 0.21, s.e. = 0.08, P = 0.009, 95% CI 0.05–0.36), and vice versa (β = 0.03, s.e. = 0.01, P = 0.009, 95% CI 0.01–0.05). Positive affect predicted an increase in adaptive coping (β = 0.26, s.e. = 0.11, P = 0.018, 95% CI 0.04–0.47), and vice versa (β = 0.02, s.e. = 0.01, P = 0.019, 95% CI 0.00–0.03). Positive affect also predicted a decrease in rumination (β = −0.15, s.e. = 0.06, P = 0.014, 95% CI −0.26 to −0.03), and vice versa (β = −0.03, s.e. = 0.01, P = 0.016, 95% CI −0.06 to −0.01). Extreme cognitive appraisals predicted stronger associations between affective states and coping behaviours.
Feedback loops between affective states and coping behaviours were revealed in the daily life of individuals with bipolar disorder, which were moderated by extreme cognitive appraisals.
The Pain Catastrophizing Scale (PCS) measures three aspects of catastrophic cognitions about pain—rumination, magnification, and helplessness. To facilitate assessment and clinical application, we aimed to (a) develop a short version on the basis of its factorial structure and the items’ correlations with key pain-related outcomes, and (b) identify the threshold on the short form indicative of risk for depression.
Social centers for older people.
664 Chinese older adults with chronic pain.
Besides the PCS, pain intensity, pain disability, and depressive symptoms were assessed.
For the full scale, confirmatory factor analysis showed that the hypothesized 3-factor model fit the data moderately well. On the basis of the factor loadings, two items were selected from each of the three dimensions. An additional item significantly associated with pain disability and depressive symptoms, over and above these six items, was identified through regression analyses. A short-PCS composed of seven items was formed, which correlated at r=0.97 with the full scale. Subsequently, receiver operating characteristic (ROC) curves were plotted against clinically significant depressive symptoms, defined as a score of ≥12 on a 10-item version of the Center for Epidemiologic Studies-Depression Scale. This analysis showed a score of ≥7 to be the optimal cutoff for the short-PCS, with sensitivity = 81.6% and specificity = 78.3% when predicting clinically significant depressive symptoms.
The short-PCS may be used in lieu of the full scale and as a brief screen to identify individuals with serious catastrophizing.
A 5G new radio cellular system is characterized by three main usage scenarios of enhanced mobile broadband (eMBB), ultra-reliable and low latency communications (URLLC), and massive machine type communications, which require improved throughput, latency, and reliability compared with a 4G system. This overview paper discusses key characteristics of 5G channel coding schemes which are mainly designed for the eMBB scenario as well as for partial support of the URLLC scenario focusing on low latency. Two capacity-achieving channel coding schemes of low-density parity-check (LDPC) codes and polar codes have been adopted for 5G where the former is for user data and the latter is for control information. As a coding scheme for data, 5G LDPC codes are designed to support high throughput, a variable code rate and length and hybrid automatic repeat request in addition to good error correcting capability. 5G polar codes, as a coding scheme for control, are designed to perform well with short block length while addressing a latency issue of successive cancellation decoding.
Solid-state electrolytes can offer improved lithium-ion battery safety while potentially increasing the energy density by enabling alkali metal anodes. There have been significant research efforts to improve the ionic conductivity of solid-state electrolytes and the electrochemical performance of all-solid-state batteries; however, the root causes of their poor performance—interfacial reaction and subsequent impedance growth—are poorly understood. This is due to the dearth of effective characterization techniques for probing these buried interfaces. In situ and operando methodologies are currently under development for solid-state interfaces, and they offer the potential to describe the dynamic interfacial processes that serve as performance bottlenecks. This article highlights state-of-the-art solid–solid interface probing methodologies, describes practical limitations, and describes a future for dynamic interfacial characterization.
Ubiquinone is a lipid antioxidant, and a novel liquid ubiquinol (a hydro-soluble, reduced form of coenzyme Q10) supplement was recently developed. The purpose of this study was to examine the levels of glucose, lipids and antioxidant capacity of type 2 diabetes patients after liquid ubiquinol supplementation. This study was designed as a randomised, double-blind, placebo-controlled trial. In all, fifty participants were randomly assigned to a placebo (n 25) or liquid ubiquinol (100 mg/d, n 25) group, and the intervention lasted for 12 weeks. Plasma coenzyme Q10, glucose homoeostasis parameters, lipid profiles, oxidative stress and antioxidative enzyme activities were measured during the study. After 12 weeks of supplementation, glyco Hb (HbA1c) value was significantly decreased in the liquid ubiquinol group (P=0·03), and subjects in the liquid ubiquinol group had significantly lower anti-glycaemic medication effect scores (MES) compared with those in the placebo group (P=0·03). The catalase (P<0·01) and glutathione peroxidase (P=0·03) activities were increased significantly after supplementation. Plasma coenzyme Q10 was correlated with the insulin level (P=0·05), homoeostatic model assessment-insulin resistance (P=0·07), quantitative insulin sensitivity check index (P=0·03) and the anti-hyperglycaemic agents’ MES (P=0·03) after supplementation. Lipid profiles did not change after supplementation; however, the subjects in the placebo group had a significantly lower level of HDL-cholesterol after 12 weeks of intervention. In conclusion, oral intake of 100 mg/d liquid ubiquinol might benefit type 2 diabetes patients by increasing antioxidant enzyme activity levels, reducing HbA1c levels and maintaining HDL-cholesterol levels.
The sense of calling has emerged as a burgeoning research interest for the past decade due to its close connection to the meaningfulness of work. However, the effects of a sense of calling and how it functions in the workplace remain unclear. This study aims at enhancing the concept of calling and understanding its application in organizations. Therefore, a cross-level model was proposed according to data collected from 24 organizations in Taiwan. As a result, our study demonstrated that sense of calling is positively related to individual performance, and the supportive organizational climate also plays an important role in the relationship between sense of calling and contextual performance. Consequently, by incorporating factors at both the organizational and individual levels into the mechanism of calling, a valuable insight into and application of an individual’s sense of calling in the work context has been established, and management implications were also provided.
The safe operating area (SOA) of InGaP/GaAs heterojunction bipolar transistors has been studied using two-dimensional Technology Computer-Aided Design (TCAD) tool. Comprehensive physical models, including hydrodynamic transport-based impact ionization and self-heating models were implemented. The simulations for two DC modes (constant Ib and Vb modes) captured all the SOA features observed in measurements and some failure mechanisms were revealed for the first time by TCAD simulations. The simulated results are also in agreement with analytical modeling. The simulation not only gives us insight to the detailed failure mechanisms, but also provides guidance for the design of devices with better ruggedness and improved SOA performances.
Previous evidence has shown positive associations between post-traumatic
stress disorder (PTSD) and hypertension, dyslipidaemia and diabetes
mellitus, which are all risk factors for stroke, but the role of PTSD in
the subsequent development of stroke is still unknown.
To investigate the temporal association between PTSD and the development
Identified from the Taiwan National Health Insurance Research Database,
5217 individuals aged 18 years, with PTSD but with no history of stroke,
and 20 868 age- and gender-matched controls were enrolled between 2002
and 2009, and followed up until the end of 2011 to identify the
development of stroke.
Individuals with PTSD had an increased risk of developing any stroke
(hazard ratio (HR) 3.37, 95% CI 2.44–4.67) and ischaemic stroke (HR =
3.47, 95% CI 2.23–5.39) after adjusting for demographic data and medical
comorbidities. Sensitivity tests showed consistent findings (any stroke
HR = 3.02, 95% CI 2.13–4.28; ischaemic stroke HR = 2.89, 95% CI
1.79–4.66) after excluding the first year of observation.
Individuals with PTSD have an increased risk of developing any stroke and
ischaemic stroke. Further studies are required to investigate the
This study presents a numerical solution to the three-dimensional solute transport in heterogeneous media by using a layer-integrated approach. Omitting vertical spatial variation of soil and hydraulic properties within each layer, a three-dimensional solute transport can be simplified as a quasi-three-dimensional solute transport which couples a horizontal two-dimensional simulation and a vertical one-dimensional computation. The finite analytic numerical method was used to discretize the derived two-dimensional governing equation. A quadratic function was used to approximate the vertical one-dimensional concentration distribution in the layer to ensure the continuity of concentration and flux at the interface between the adjacent layers. By integration over each layer, a set of system of equations can be generated for a single column of vertical cells and solved numerically to give the vertical solute concentration profile. The solute concentration field was then obtained by solving all columns of vertical cells to achieve convergence with the iterative solution procedure. The proposed model was verified through examples from the published literatures including four verifications in terms of analytical and experimental cases. Comparison of simulation results indicates that the proposed model satisfies the solute concentration profiles obtained from experiments in time and space.
We report our effort to quantify atomic-scale chemical maps obtained by collecting energy-dispersive X-ray spectra (EDS) using scanning transmission electron microscopy (STEM) (STEM-EDS). With thin specimen conditions and localized EDS scattering potential, the X-ray counts from atomic columns can be properly counted by fitting Gaussian peaks at the atomic columns, and can then be used for site-by-site chemical quantification. The effects of specimen thickness and X-ray energy on the Gaussian peak width are investigated using SrTiO3 (STO) as a model specimen. The relationship between the peak width and spatial resolution of an EDS map is also studied. Furthermore, the method developed by this work is applied to study cation occupancy in a Sm-doped STO thin film and antiphase boundaries (APBs) present within the STO film. We find that Sm atoms occupy both Sr and Ti sites but preferably the Sr sites, and Sm atoms are relatively depleted at the APBs likely owing to the effect of strain.
Dye-sensitized solar cells (DSSC) may provide an economical alternative to the present p–n junction photovoltaic devices. Here the relation between chlorophyll purity and photovoltaic performance was examined. Also the commercial grade copper chlorophyll was examined. The performance under simulated sunlight and the quantum efficiency were measured. All samples had large short wavelength quantum efficiency however the high purity chlorophyll had larger quantum efficiency in the visible. The highest purity samples produced DSSC solar cells with the highest open circuit voltage and efficiency while the fill factor and the short circuit current were not strongly correlated with purity. The un-altered short circuit current suggests that chlorophyll attachment and charge transfer at the titanium oxide are not altered by impurities. However the results suggest that impurities (and/or copper in the commercial chlorophyll case) alter the photo-absorption and the electrolyte so as to either change the iodine chemical potential or decrease the diffusivity of iodine ions.
Dye type solar cells, especially those incorporating low cost dyes suffer from a very narrow photo-response wavelength range. Motivated by natural photosynthesis research, energy relay dyes (ERDs) appear to offer a possibility to broaden the dye-cell spectral response. In-turn photovoltaic cells can be an extremely sensitive tool for investigation of dye ERD photochemistry. Sensitive Chlorophyll based dye-type solar cells were prepared from purified natural Chlorophyll A. The importance of Chlorophyll purity is discussed as well as the use of purified Chlorophyll A in combination with ERD’s. . Results shed light on many interesting phenomenon including the nature of purified Chlorophyll A excitation and absorption. Importantly, it was found by this work that the ERD architecture when combined with a photosensitizer do not appear to having greater absorption in the infrared region of the spectrum than the ERD alone indicating a lack of cooperative absorption.
Phosphorylation of proteins on serine or threonine residues preceding proline is a key signalling mechanism in diverse physiological and pathological processes. Pin1 (peptidyl-prolyl cis–trans isomerase) is the only enzyme known that can isomerise specific Ser/Thr-Pro peptide bonds after phosphorylation and regulate their conformational changes with high efficiency. These Pin1-catalysed conformational changes can have profound effects on phosphorylation signalling by regulating a spectrum of target activities. Interestingly, Pin1 deregulation is implicated in a number of diseases, notably ageing and age-related diseases, including cancer and Alzheimer disease. Pin1 is overexpressed in most human cancers; it activates numerous oncogenes or growth enhancers and also inactivates a large number of tumour suppressors or growth inhibitors. By contrast, ablation of Pin1 prevents cancer, but eventually leads to premature ageing and neurodegeneration. Consistent with its neuroprotective role, Pin1 has been shown to be inactivated in neurons of patients with Alzheimer disease. Therefore, Pin1-mediated phosphorylation-dependent prolyl isomerisation represents a unique signalling mechanism that has a pivotal role in the development of human diseases, and might offer an attractive new diagnostic and therapeutic target.
Layers that enhance light scattering and Raman-scattering-based spectral modification for solar cell applications were investigated. Titanium-oxide based rear diffuse reflector were found to increase the long wavelength response of crystalline solar cells. Also particle within the Titanium-oxide produce a far greater Stokes and anti-Stokes shift when compared to bulk crystal counterparts. The anti-Stokes to Stokes shift ratio in these particle systems is also greater and increased with increasing probe or bias light intensity. When applied to solar cells these layers extend the red response and thereby increase the overall performance.
To examine the effect of taking an elective psychiatry and literature
course during the first year of medical school on performance in the
later mandatory general psychiatry curriculum. Class members were
surveyed for baseline characteristics at the time of their admission to
medical school. Following completion of their fourth year, average grades
in psychiatry were calculated and results compared for those who did and
those who did not take the course. Multiple regression analysis was used
to assess the effects of baseline characteristics that were significantly
different between the groups.
Students who took the course had statistically significant
(t = −3.34, P <0.001) higher
grades in fourth year psychiatry. They had lower admission interview
scores (t = −2.15, P <0.05) and
reported less academic stress (t = −9.55,
P <0.01) before taking the course.
Literature is an effective medium through which to teach medical students
psychiatry as it can lead to a greater understanding of the topic.