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

Nutritional status, dietary quality and eating disturbance issues among people with dementia in Vietnam: evidence of a cross-sectional study

\ua9 The Author(s) 2024.Background: Due to cognitive impairments, people with dementia (PWD) often have difficulties in eating and drinking. This study aimed to assess the nutritional status, dietary quality and eating disturbance issues among PWD in Vietnam. Methods: We conducted a cross-sectional study at the Vietnamese National Geriatric Hospital from April to December 2022. We used Mini-Mental State Exam (MMSE) to classify the severity levels of dementia. Mini Nutritional Assessment (MNA), 24-hour recall, eating disturbance questionnaires, and anthropometric indicators were used to evaluate the nutritional status, dietary quality, and eating disorders of study subjects. Results: Overall, among 63 study participants, 74.6 per cent of PWD were at risk of or having malnutrition. By dementia classification according to MMSE scale, people with moderate and severe dementia accounted for 53.3 per cent of those who met the recommended energy levels, compared to 42.4 per cent of people with mild dementia and normal people. In the above two groups, around three per cent of participants reached the recommended amount of fibre. Calcium (50–70%), vitamin A (80–90%), and D (90%) were found to be the most severe deficiency forms of minerals and vitamins in both male and female participants. The majority of participants (90.5%) had at least one form of eating disorders with the most frequent issue being appetite changes (76.2%) and swallowing issues (50.8%). Conclusions: PWD in our sample frequently experienced malnutrition, a lack of essential nutrients, difficulties swallowing, changes in eating habits and appetite. It is neccesary to early screen and assess nutritional status and swallowing disturbance in PWD, and instruct their caregivers to prepare nutritious meals for them

Utilization of services provided by village based ethnic minority midwives in mountainous villages of Vietnam

Introduction: Since 2011, the Vietnam’s Ministry of Health implemented the ethnic minority midwives (EMMs) scheme in order to increase the utilization of maternal health services by women from ethnic minorities and those living in hard-to-reach mountainous areas. This paper analyzes the utilization of antenatal, delivery, and postpartum care provided by EMMs and reports the key determinants of utilization of EMM services as perceived by service users. Methods: A structured questionnaire was administered in 2015 to all mothers (n=320) who gave birth to a live-born during a 1-year period in 31 villages which had EMM in two provinces, Dien Bien and Kon Tum. A multivariate logistic regression model was used to examine the association between all potential factors and the use of services provided by EMMs. Results: We found that EMMs provided more antenatal care and postnatal care as compared with delivery services, which corresponded to their job descriptions. The results also showed that utilization of antenatal care provided by EMMs was lower than that of postnatal care. The proportion of those who never heard about EMM was high (24%). Among the mothers who knew about EMM services, 33.4% had antenatal checkups, 20.1% were attended during home deliveries, and 57.3% had postnatal visits by an EMM. Key factors that determined the use of EMM services included knowledge of the location of EMM’s house, being aware about EMMs by health workers, trust in services provided by EMMs, and perception that many others mothers in a village also knew about EMM services. Conclusion: EMM seems to be an important mechanism to ensure assistance during home births and postnatal care for ethnic minority groups, who are often resistant to attend health facilities. Building trust and engaging with communities are the key facilitators to increase the utilization of services provided by EMMs. Communication campaigns to raise awareness about EMMs and to promote their services in the village, particularly by other health workers, represent an important strategy to further improve effectiveness of EMM scheme

A Model for the Prediction of Fiber Elasticity

A model is presented that enables the elastic properties of wood fibers to be estimated from the properties of its polymeric constituents, cellulose, hemicellulose, and lignin. The influence of the value of the axial stiffness of the cellulose crystal is demonstrated, its proper value being discussed in comparison with experimental data on fibers. The effects on fiber stiffness of the S2 fibril angle, the fibril angles of other layers, the crystallinity, and layer thicknesses are analyzed. The manner in which the effect of a variation in yield can be simulated by a change in shape factor of the reinforcing cellulose crystals is demonstrated, the cell wall thus being considered to be a discontinuous reinforced composite

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field

Mutations in the gyrA, parC, and mexR genes provide functional insights into the fluoroquinolone-resistant Pseudomonas aeruginosa isolated in Vietnam

Kinh Van Nguyen,1,2,* Trung Vu Nguyen,1,3,* Hang Thi Thuy Nguyen,4 Duyet Van Le1 1Clinical Laboratories, National Hospital for Tropical Diseases, 2Infectious Department, Hanoi Medical University, 3Microbiology Department, Hanoi Medical University, 4Department of Microbiology, National Geriatric Hospital, Hanoi, Vietnam *These authors contributed equally to this work Introduction: Pseudomonas aeruginosa has many mechanisms of resistance to fluoroquinolones. The main mechanism is to change the effect of two enzymes that open the DNA helix – the enzyme DNA gyrase (gyrA) and the topoisomerase IV (parC). In addition, mutations that render the MexAB-oprM pump (mexR) dysfunctional, leading to its overexpression, also enhance resistance to fluoroquinolones. In this study, we aim to detect point mutations of gyrA, parC, and mexR genes that are predicted to be associated with fluoroquinolone resistance in 141 fluoroquinolone-resistant clinical isolates of P. aeruginosa isolated in Vietnam during 2013–2016.Methods: We tested minimum inhibitory concentrations (MICs) of fluoroquinolone antibiotics in 141 clinical isolates of P. aeruginosa using the VITEK 2 Compact System, followed by PCR assay, to detect and clone the fluoroquinolone resistance-determining region (FRDR) of gyrA, parC, and mexR. Point mutations were analyzed through Sanger sequencing, and the correlation between genetic mutations and phenotypic resistance of 141 clinical isolates was undertaken.Results: Fluoroquinolone-resistant substitution mutations such as Ile for Thr83 and Met for Thr133 in gyrA, Leu for Ser87 in parC, and Val for Glu126 in the repressor of mexR were mainly detected. Comparative analytical data indicated that amino acid alterations within the gyrA and parC genes are highly associated with resistance to ciprofloxacin (CIP) and levofloxacin (LEV) in the isolates, whereas alterations in the efflux regulatory mexR gene are not highly consistent with resistance in these isolates. Moreover, fluoroquinolone-resistant clinical isolates of P. aeruginosa were mainly isolated from pus and sputum specimens.Conclusion: In clinical isolates of P. aeruginosa, a high correlation was observed between MICs of CIP and LEV and alterations in gyrA and parC genes. However, mutations occurring in mexR did not highly correlate with the antibiotic resistance of the bacterium. Keywords: fluoroquinolone-resistant Pseudomonas aeruginosa, fluoroquinolone resistance-determining region, FRDR, mutation, gyrA, parC, mex

Assessing the clinical utility of genetic profiling in fracture risk prediction: a decision curve analysis.

Using decision curve analysis on 2188 women and 1324 men, we found that an osteogenomic profile constructed from 62 genetic variants improved the clinical net benefit of fracture risk prediction over and above that of clinical risk factors and BMD.IntroductionGenetic profiling is a promising tool for assessing fracture risk. This study sought to use the decision curve analysis (DCA), a novel approach to determine the impact of genetic profiling on fracture risk prediction.MethodsThe study involved 2188 women and 1324 men, aged 60 years and above, who were followed for up to 23 years. Bone mineral density (BMD) and clinical risk factors were obtained at baseline. The incidence of fracture and mortality were recorded. A weighted individual genetic risk score (GRS) was constructed from 62 BMD-associated genetic variants. Four models were considered: CRF (clinical risk factors); CRF + GRS; Garvan model (GFRC) including CRF and femoral neck BMD; and GFRC + GRS. The DCA was used to evaluate the clinical net benefit of predictive models at a range of clinically reasonable risk thresholds.ResultsIn both women and men, the full model GFRC + GRS achieved the highest net benefits. For 10-year risk threshold > 18% for women and > 15% for men, the GRS provided net benefit above those of the CRF models. At 20% risk threshold, adding the GRS could help to avoid 1 additional treatment per 81 women or 1 per 24 men compared with the Garvan model. At lower risk thresholds, there was no significant difference between the four models.ConclusionsThe addition of genetic profiling into the clinical risk factors can improve the net clinical benefit at higher risk thresholds of fracture. Although the contribution of genetic profiling was modest in the presence of BMD + CRF, it appeared to be able to replace BMD for fracture prediction

Data Compensation with Gaussian Processes Regression: Application in Smart Building's Sensor Network

Data play an essential role in the optimal control of smart buildings' operation, especially in building energy-management for the target of nearly zero buildings. The building monitoring system is in charge of collecting and managing building data. However, device imperfections and failures of the monitoring system are likely to produce low-quality data, such as data loss and inconsistent data, which then seriously affect the control quality of the buildings. This paper proposes a new approach based on Gaussian process regression for data-quality monitoring and sensor network data compensation in smart buildings. The proposed method is proven to effectively detect and compensate for low-quality data thanks to the application of data analysis to the energy management monitoring system of a building model in Viet Nam. The research results provide a good opportunity to improve the efficiency of building energy-management systems and support the development of low-cost smart buildings