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

A Multidomain Intervention Program for Older People with Dementia: A Pilot Study

Background: Multidomain interventions have been shown to be effective in improving cognition, quality of life, reducing neuropsychiatric symptoms and delaying progression of functional impairment or disability in dementia patients. To investigate the multidomain intervention in other populations and diverse cultural and geographical settings, this pilot study will assess the feasibility of a multidomain intervention for older people with dementia in nursing homes in Vietnam. Methods: Participants will be randomized into two equal groups, to receive either a multidomain intervention (intervention group) or regular health advice (control group). The intervention will include physical, cognitive, and social interventions as well as management of metabolic and vascular risk factors. We will hypothesize that the multidomain intervention will be feasible in Vietnam, and participants who receive the intervention will show improvement in quality of life, behaviors, functional ability, cognitive function, sleep, and in reduction of falls, use of healthcare services, and death rate compared to those in the control group during the 6 months intervention period and after the 6 months extended follow-up. Discussion: This is the first study to evaluate the feasibility of a multidomain intervention program for older people with dementia in nursing homes in Vietnam. The results from the trial will inform clinicians and the public of the possibility of comprehensive treatment beyond simply drug treatments for dementia. This paves the way for further studies to evaluate the long-term effects of multidomain interventions in dementia patients. Furthermore, the research results will provide information on the effectiveness of multidomain interventions which will inform policy development on dementia. Trial Registration: The trial is registered with ClinicalTrials.gov identifier: NCT04948450 on 02/07/2021

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

Toxoplasmosis-associated IRIS involving the CNS: a case report with longitudinal analysis of T cell subsets

Background: HIV-infected patients may present an unforeseen clinical worsening after initiating antiretroviral therapy known as immune reconstitution inflammatory syndrome (IRIS). This syndrome is characterized by a heightened inflammatory response toward infectious or non-infectious triggers, and it may affect different organs. Diagnosis of IRIS involving the central nervous system (CNS-IRIS) is challenging due to heterogeneous manifestations, absence of biomarkers to identify this condition, risk of long-term sequelae and high mortality. Hence, a deeper knowledge of CNS-IRIS pathogenesis is needed. Case presentation: A 37-year-old man was diagnosed with AIDS and cerebral toxoplasmosis. Anti-toxoplasma treatment was initiated immediately, followed by active antiretroviral therapy (HAART) 1 month later. At 2 months of HAART, he presented with progressive hyposensitivity of the right lower limb associated with brain and dorsal spinal cord lesions, compatible with paradoxical toxoplasmosis-associated CNS-IRIS, a condition with very few reported cases. A stereotactic biopsy was planned but was postponed based on its inherent risks. Patient showed clinical improvement with no requirement of corticosteroid therapy. Routine laboratorial analysis was complemented with longitudinal evaluation of blood T cell subsets at 0, 1, 2, 3 and 6 months upon HAART initiation. A control group composed by 9 HIV-infected patients from the same hospital but with no IRIS was analysed for comparison. The CNS-IRIS patient showed lower percentage of memory CD4(+) T cells and higher percentage of activated CD4(+) T cells at HAART initiation. The percentage of memory CD4(+) T cells drastically increased at 1 month after HAART initiation and became higher in comparison to the control group until clinical recovery onset; the percentage of memory CD8(+) T cells was consistently lower throughout follow-up. Interestingly, the percentage of regulatory T cells (Treg) on the CNS-IRIS patient reached a minimum around 1 month before symptoms onset. Conclusion: Although both stereotactic biopsies and steroid therapy might be of use in CNS-IRIS cases and should be considered for these patients, they might be unnecessary to achieve clinical improvement as shown in this case. Immunological characterization of more CNS-IRIS cases is essential to shed some light on the pathogenesis of this condition.Portuguese Foundation for Science and Technology (FCT; PIC/IC/83313/2007) and co-financed by the Portuguese North Regional Operational Program (ON.2 - O Novo Norte) under the National Strategic Reference Framework (QREN) through the European Regional Development Fund (FEDER). A FCT fellowship was attributed to RRS (PD/BD/106047/2015; Inter-University Doctoral Program in Ageing and Chronic Disease) and to CN [SFRH/BPD/65380/2009; Programa Operacional Potencial Humano (POPH) through the Fundo Social Europeu (FSE)]info:eu-repo/semantics/publishedVersio

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

Health-related quality of life in elderly diabetic outpatients in Vietnam

Huong Thi Thu Nguyen,1,2 Mackenzie PI Moir,3 Thanh Xuan Nguyen,2,4 Anh Phuong Vu,5 Long Hoang Luong,2,4 Tam Ngoc Nguyen,1,2 Long Hoang Nguyen,6 Bach Xuan Tran,7,8 Tung Thanh Tran,9 Carl A Latkin,8 Melvyn WB Zhang,10 Roger CM Ho,11 Huyen Thanh Thi Vu1,2 1Department of Gerontology, Hanoi Medical University, Hanoi, Vietnam; 2National Geriatric Hospital, Hanoi, Vietnam; 3School of Public Health, University of Alberta, Edmonton, AB, Canada; 4Dinh Tien Hoang Institute of Medicine, Hanoi, Vietnam; 5Hanoi Medical University, Hanoi, Vietnam; 6School of Medicine and Pharmacy, Vietnam National University, Hanoi, Vietnam; 7Institute for Preventive Medicine and Public Health, Hanoi Medical University, Hanoi, Vietnam; 8Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA; 9Institute for Global Health Innovations, Duy Tan University, Da Nang, Vietnam; 10Biomedical Global Institute of Healthcare Research & Technology (BIGHEART), National University of Singapore, Singapore; 11Department of Psychological Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore Background: Health-related quality of life (HRQoL) is an important indicator for designing care and treatment services for patients with diabetes. This is especially true given its rapid increase among the elderly population in Vietnam. HRQoL data in elderly diabetic Vietnamese are currently limited. This study aimed to 1) measure the HRQoL of elderly patients with type 2 diabetes (T2DM) in Vietnam and 2) identify related factors and their relationship with HRQoL. Patients and methods: A cross-sectional study was conducted. We recruited 171 patients aged ≥60 years with T2DM at the Outpatient Department, National Geriatric Hospital from June to November 2015. Patients were asked to evaluate their health status using the EuroQol Five Dimensions Three Levels (EQ-5D-3L) and the Visual Analog Scale (VAS). Sociodemographic, diabetic treatment, and management characteristics were collected. Multivariate Tobit regression was used to determine which factors were associated with HRQoL, and the strength of this relationship. Results: Patients reported some problems in all areas of the EQ-5D: pain/discomfort (50.9%), mobility (33.3%), anxiety/depression (24.0%), usual activities (21.1%), and self-care (10.5%). The mean EQ-5D index score was 0.80 (SD=0.20), and the mean EQ-VAS was 57.5 (SD=14.4). Patients who were male, lived in an urban area, could afford treatment, were taking fewer medications, and monitored blood pressure often (1–4 times a week) had a higher EQ-5D index when compared to other groups. Meanwhile, a longer duration of diabetes and older age were negatively associated with the EQ-5D index. Patients with any comorbidity had lower VAS scores than their counterparts. Conclusion: The presence of diabetes and comorbidity were responsible for a significant decrease in HRQoL. Screening and identifying health problems, providing prompt treatment, and facilitating self-management among patients have the potential to increase diabetic patients’ HRQoL. Keywords: elder, quality of life, diabetes, Vietna