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

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

Using the WHO Self-Reporting Questionnaire-20 (SRQ-20) to Detect Symptoms of Common Mental Disorders among Pregnant Women in Vietnam: a Validation Study

Trang Thi Hanh Do,1 Quyen Thi Tu Bui,2 Bui Thi Thu Ha,3 Thi Minh Le,3 Vui Thi Le,3 Quynh-Chi Thai Nguyen,3 Kimberly Joyce Lakin,4 Tung Thanh Dang,5 Loi Van Bui,5 Thien Cong Le,5 An Thi Ha Tran,5 Hien Thi Thu Pham,5 Tuan Van Nguyen5 1Faculty of Environmental and Occupational Health, Hanoi University of Public Health, Hanoi, Vietnam; 2Faculty and Fundamental Sciences, Hanoi University of Public Health, Hanoi, Vietnam; 3Faculty of Social and Behavioral Sciences, Hanoi University of Public Health, Hanoi, Vietnam; 4Nossal Institute for Global Health, Melbourne School of Population and Global Health, Melbourne, Victoria, Australia; 5The National Institute of Mental Health, Bach Mai Hospital, Hanoi, VietnamCorrespondence: Quyen Thi Tu Bui, Department of Biostatistics, Faculty of Fundamental Sciences, Hanoi University of Public Health, 1A Duc Thang Street, Bac Tu Liem District, Hanoi, Vietnam, Tel +84 912 225 245, Fax +84 24 6266 2385, Email [email protected]: Detection of antenatal common mental disorders in low-resource settings like Vietnam is important and requires a reliable, valid and practical screening tool. Currently, there is no such tool validated for use among pregnant women in Vietnam. This study aims to assess the validity of the Vietnamese version of the 20-item Self Reporting Questionnaire (SRQ-20) by evaluating its reliability, factorial structure, and performance in detecting common mental disorder (CMD) symptoms, thereby identifying the optimum cut-off score for CMD screening among pregnant women in Vietnam.Participants and Methods: A total of 210 pregnant women from four rural communes participated in a face-to-face interview using the Vietnamese version of the SRQ-20, followed by a clinical diagnostic interview based on ICD-10 diagnostic criteria of CMDs. The reliability of the SRQ-20 was assessed by calculating the scale’s Cronbach’s alpha to measure internal consistency. Factor analyses were undertaken to examine the factor structure of the instrument. The Receiver Operating Characteristic (ROC) curve analysis was performed to assess the performance of the SRQ-20 against the clinical diagnosis and to identify the optimum cut-off score.Results: Internal consistency was good, with a Cronbach’s alpha of 0.87. Factor analyses resulted in a 4-factor solution. The area under the ROC curve (AUC) for detection of CMDs was 0.90. The optimum cut-off score of the SRQ-20 for detection of CMD symptoms among Vietnamese pregnant women was 5/6.Conclusion: The Vietnamese version of the SRQ-20 has the capacity to detect CMDs among pregnant women effectively and is recommended for use as a screening tool for CMDs in antenatal care settings in Vietnam.Keywords: SRQ-20, screening, common mental disorders, pregnant women, Vietna

Plans for nationwide serosurveillance network in Vietnam

In recent years, serosurveillance has gained momentum as a way of determining disease transmission and immunity in populations, particularly with respect to vaccine-preventable diseases. At the end of 2017, the Oxford University Clinical Research Unit and the National Institute of Hygiene and Epidemiology held a meeting in Vietnam with national policy makers, researchers, and international experts to discuss current seroepidemiologic projects in Vietnam and future needs and plans for nationwide serosurveillance. This report summarizes the meeting and the plans that were discussed to set up nationwide serosurveillance in Vietnam

Evaluation of the Luminex xTAG Respiratory Viral Panel FAST v2 assay for detection of multiple respiratory viral pathogens in nasal and throat swabs in Vietnam [version 1; referees: 2 approved]

Background: Acute respiratory infections (ARI) are among the leading causes of hospitalization in children ≤5 years old. Rapid diagnostics of viral pathogens is essential to avoid unnecessary antibiotic treatment, thereby slowing down antibiotic-resistance. We evaluated the diagnostic performance of the Luminex xTAG Respiratory Viral Panel FAST v2 against viral specific PCR as reference assays for ARI in Vietnam. Methods: Four hundred and forty two nose and throat swabs were collected in viral transport medium, and were tested with Luminex xTAG Respiratory Viral Panel FAST v2. Multiplex RT-PCR and single RT-PCR were used as references. Results: Overall, viral pathogens were detected in a total count of 270/294 (91.8%, 95% CI 88.1-94.7) by the Luminex among reference assays, whilst 112/6336 (1.8%, 95% CI, 1.4-2.1) of pathogens were detected by the Luminex, but not by reference assays. Frequency of pathogens detected by Luminex and reference assays was 379 and 292, respectively. The diagnostic yield was 66.7% (295/442, 95%CI 62.1-71.1%) for the Luminex assay and 54.1% (239/442, 95% CI, 49.3-58.8%) for reference assays. The Luminex kit had higher yields for all viruses except influenza B virus, respiratory syncytial virus, and human bocavirus. High agreements between both methods [mean (range): 0.91 (0.83-1.00)] were found for 10/15 viral agents. Conclusions: The Luminex assay is a high throughput multiplex platform for rapid detection of common viral pathogens causing ARI. Although the current high cost may prevent Luminex assays from being widely used, especially in limited resource settings where ARI are felt most, its introduction in clinical diagnostics may help reduce unnecessary use of antibiotic prescription