Genetic landscape of autism spectrum disorder in Vietnamese children

Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited. Here, we first conducted whole exome sequencing (WES) of 100 children with ASD and their unaffected parents. Our stringent analysis pipeline was able to detect 18 unique variants (8 de novo and 10 ×-linked, all validated), including 12 newly discovered variants. Interestingly, a notable number of X-linked variants were detected (56%), and all of them were found in affected males but not in affected females. We uncovered 17 genes from our ASD cohort in which CHD8, DYRK1A, GRIN2B, SCN2A, OFD1 and MDB5 have been previously identified as ASD risk genes, suggesting the universal aetiology of ASD for these genes. In addition, we identified six genes that have not been previously reported in any autism database: CHM, ENPP1, IGF1, LAS1L, SYP and TBX22. Gene ontology and phenotype-genotype analysis suggested that variants in IGF1, SYP and LAS1L could plausibly confer risk for ASD. Taken together, this study adds to the genetic heterogeneity of ASD and is the first report elucidating the genetic landscape of ASD in Vietnamese children

Women's perspectives on termination service delivery in Vietnam: a cross-sectional survey in three provinces.

OBJECTIVE: To explore the perspectives of abortion service users regarding termination methods and abortion service delivery in Vietnam. MATERIALS AND METHODS: Structured exit interviews were conducted between August and November 2011 with women who underwent termination of pregnancy at 62 public health facilities in Hanoi, Khanh Hoa, and Ho Chi Minh City in Vietnam. All women presenting for termination during the study period were recruited to participate in the study. Following their abortion, women were asked about their perspectives on abortion service delivery and attributes of medical abortion (MA) versus manual vacuum aspiration (MVA). Multiple logistic regression was used to assess the association between current method uptake and each attribute. RESULTS: A total of 1,233 women were included in the survey: 541 (43.9%) from Hanoi, 163 (13.2%) from Khanh Hoa, and 529 (42.9%) from Ho Chi Minh: 23.1% underwent MA; 78.9% reported that women should be given a choice between MA and MVA; and 77.6% thought that abortion services were accessible. Among the 48% who responded, 30.1% thought that MA should be made available at primary/secondary health care facilities. Among women who had previously undergone both methods, women who reported that MA "feels more natural" (like a menstrual regulation/period) were more likely to choose MA for their current abortion (odds ratio 2.15, 95% confidence interval 1.26-3.69). CONCLUSION: MA uptake is significantly lower than MVA uptake. Further insights to women's perceptions of MA in Vietnam could help improve abortion service delivery in the country

Attributes and perspectives of public providers related to provision of medical abortion at public health facilities in Vietnam: a cross-sectional study in three provinces.

BACKGROUND: The purpose of this study was to investigate attributes of public service providers associated with the provision of medical abortion in Vietnam. METHODS: We conducted a cross-sectional study via interviewer-administered questionnaire among abortion providers from public health facilities in Hanoi, Khanh Hoa, and Ho Chi Minh City in Vietnam between August 2011 and January 2012. We recruited abortion providers at all levels of Vietnam's public health service delivery system. Participants were questioned about their medical abortion provision practices and perspectives regarding abortion methods. RESULTS: A total of 905 providers from 62 health facilities were included, comprising 525 (58.0%) from Hanoi, 122 (13.5%) from Khanh Hoa, and 258 (28.5%) from Ho Chi Minh City. The majority of providers were female (96.7%), aged ≥25 years (94%), married (84.4%), and had at least one child (89%); 68.9% of providers offered only manual vacuum aspiration and 31.1% performed both medical abortion and manual vacuum aspiration. Those performing both methods included physicians (74.5%), midwives (21.7%), and nurses (3.9%). Unadjusted analyses showed that female providers (odds ratio 0.1; 95% confidence interval 0.01-0.30) and providers in rural settings (odds ratio 0.3; 95% confidence interval 0.08-0.79) were less likely to provide medical abortion than their counterparts. Obstetricians and gynecologists were more likely to provide medical abortion than providers with nursing/midwifery training (odds ratio 22.2; 95% confidence interval 3.81-129.41). The most frequently cited advantages of medical abortion for providers were that no surgical skills are required (61.7%) and client satisfaction is better (61.0%). CONCLUSION: Provision of medical abortion in Vietnam is lower than provision of manual vacuum aspiration. While the majority of abortion providers are female midwives in Vietnam, medical abortion provision is concentrated in urban settings among physicians. Individuals providing medical abortion found that the method yields high client satisfaction

Predictors of Successful Decannulation Using a Tracheostomy Retainer in Patients with Prolonged Weaning and Persisting Respiratory Failure

Background: For percutaneously tracheostomized patients with prolonged weaning and persisting respiratory failure, the adequate time point for safe decannulation and switch to noninvasive ventilation is an important clinical issue. Objectives: We aimed to evaluate the usefulness of a tracheostomy retainer (TR) and the predictors of successful decannulation. Methods: We studied 166 of 384 patients with prolonged weaning in whom a TR was inserted into a tracheostoma. Patients were analyzed with regard to successful decannulation and characterized by blood gas values, the duration of previous spontaneous breathing, Simplified Acute Physiology Score (SAPS) and laboratory parameters. Results: In 47 patients (28.3%) recannulation was necessary, mostly due to respiratory decompensation and aspiration. Overall, 80.6% of the patients could be liberated from a tracheostomy with the help of a TR. The need for recannulation was associated with a shorter duration of spontaneous breathing within the last 24/48 h (p < 0.01 each), lower arterial oxygen tension (p = 0.025), greater age (p = 0.025), and a higher creatinine level (p = 0.003) and SAPS (p < 0.001). The risk for recannulation was 9.5% when patients breathed spontaneously for 19-24 h within the 24 h prior to decannulation, but 75.0% when patients breathed for only 0-6 h without ventilatory support (p < 0.001). According to ROC analysis, the SAPS best predicted successful decannulation {[}AUC 0.725 (95% CI: 0.634-0.815), p < 0.001]. Recannulated patients had longer durations of intubation (p = 0.046), tracheostomy (p = 0.003) and hospital stay (p < 0.001). Conclusion: In percutaneously tracheostomized patients with prolonged weaning, the use of a TR seems to facilitate and improve the weaning process considerably. The duration of spontaneous breathing prior to decannulation, age and oxygenation describe the risk for recannulation in these patients. Copyright (c) 2012 S. Karger AG, Base

Efficient approach for maximizing lifespan in wireless sensor networks by using mobile sinks

Recently, sink mobility has been shown to be highly beneficial in improving network lifetime in wireless sensor networks (WSNs). Numerous studies have exploited mobile sinks (MSs) to collect sensed data in order to improve energy efficiency and reduce WSN operational costs. However, there have been few studies on the effectiveness of MS operation on WSN closed operating cycles. Therefore, it is important to investigate how data is collected and how to plan the trajectory of the MS in order to gather data in time, reduce energy consumption, and improve WSN network lifetime. In this study, we combine two methods, the cluster-head election algorithm and the MS trajectory optimization algorithm, to propose the optimal MS movement strategy. This study aims to provide a closed operating cycle for WSNs, by which the energy consumption and running time of a WSN is minimized during the cluster election and data gathering periods. Furthermore, our flexible MS movement scenarios achieve both a long network lifetime and an optimal MS schedule. The simulation results demonstrate that our proposed algorithm achieves better performance than other well-known algorithms

A mathematical model for breath gas analysis of volatile organic compounds with special emphasis on acetone

Recommended standardized procedures for determining exhaled lower respiratory nitric oxide and nasal nitric oxide have been developed by task forces of the European Respiratory Society and the American Thoracic Society. These recommendations have paved the way for the measurement of nitric oxide to become a diagnostic tool for specific clinical applications. It would be desirable to develop similar guidelines for the sampling of other trace gases in exhaled breath, especially volatile organic compounds (VOCs) which reflect ongoing metabolism. The concentrations of water-soluble, blood-borne substances in exhaled breath are influenced by: (i) breathing patterns affecting gas exchange in the conducting airways; (ii) the concentrations in the tracheo-bronchial lining fluid; (iii) the alveolar and systemic concentrations of the compound. The classical Farhi equation takes only the alveolar concentrations into account. Real-time measurements of acetone in end-tidal breath under an ergometer challenge show characteristics which cannot be explained within the Farhi setting. Here we develop a compartment model that reliably captures these profiles and is capable of relating breath to the systemic concentrations of acetone. By comparison with experimental data it is inferred that the major part of variability in breath acetone concentrations (e.g., in response to moderate exercise or altered breathing patterns) can be attributed to airway gas exchange, with minimal changes of the underlying blood and tissue concentrations. Moreover, it is deduced that measured end-tidal breath concentrations of acetone determined during resting conditions and free breathing will be rather poor indicators for endogenous levels. Particularly, the current formulation includes the classical Farhi and the Scheid series inhomogeneity model as special limiting cases.Comment: 38 page

Small but crucial : the novel small heat shock protein Hsp21 mediates stress adaptation and virulence in Candida albicans

Peer reviewedPublisher PD

Pleosporales

One hundred and five generic types of Pleosporales are described and illustrated. A brief introduction and detailed history with short notes on morphology, molecular phylogeny as well as a general conclusion of each genus are provided. For those genera where the type or a representative specimen is unavailable, a brief note is given. Altogether 174 genera of Pleosporales are treated. Phaeotrichaceae as well as Kriegeriella, Zeuctomorpha and Muroia are excluded from Pleosporales. Based on the multigene phylogenetic analysis, the suborder Massarineae is emended to accommodate five families, viz. Lentitheciaceae, Massarinaceae, Montagnulaceae, Morosphaeriaceae and Trematosphaeriaceae

Machine learning approaches for lateral strength estimation in squat shear walls:A comparative study and practical implications

This study investigated the influence of input parameters on the shear strength of RC squat walls using machine learning (ML) models and finite element method (FEM) analysis. The analyses were conducted on the largest currently available dataset of 639 squat RC walls with a height-to-length ratio of less than or equal to 2.0. The findings suggest that ensemble learning models, specifically XGBoost, CatBoost, GBRT, and RF, are effective in predicting the shear strength of RC short shear walls and using Bayesian Optimization for hyperparameter tuning improves their performance. The axial load had a greater influence on the shear strength than reinforcement ratio, and longitudinal reinforcement had a more significant impact compared to horizontal and vertical reinforcement. The performance of XGBoost model significantly outperforms traditional design models such as ACI 318-19, ASCE/SEI 43-05, and Wood 1990. Additionally, reducing the number of input features from 13 to 10, 8, or 6 still yields reliable predictions with high accuracy. The finding suggests that the use of XGBoost models provides not only comparable accuracy to FEM simulations with non-linear pushover analysis but also the first one can predict the lateral strength in the case of incomplete data which could not be done by FEM. A web application incorporating XGBoost model with various input features can provide valuable insights for predicting the lateral strength of squat shear walls in building structures.</p

Cytomolecular identification of individual wheat-wheat chromosome arm associations in wheat-rye hybrids

Chromosome pairing in the meiotic metaphase I of wheatrye hybrids has been characterized by sequential genomic and fluorescent in situ hybridization allowing not only the discrimination of wheat and rye chromosomes, but also the identification of the individual wheat and rye chromosome arms involved in the chromosome associations. The majority of associations (93.8%) were observed between the wheat chromosomes. The largest number of wheat-wheat chromosome associations (53%) was detected between the A and D genomes, while the frequency of B-D and A-B associations was significantly lower (32 and 8%, respectively). Among the A-D chromosome associations, pairing between the 3AL and 3DL arms was observed with the highest frequency, while the most frequent of all the chromosome associations (0.113/ cell) was found to be the 3DS-3BS. Differences in the pairing frequency of the individual chromosome arms of wheat-rye hybrids have been discussed in relation to the homoeologous relationships between the constituent genomes of hexaploid wheat