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Autism spectrum disorder (ASD) is a developmental disorder with a prevalence of around 1% children worldwide and characterized by patient behaviour (communication, social interaction, and personal development). Data on the efficacy of diagnostic tests using copy number variations (CNVs) in candidate genes in ASD is currently around 10% but it is overrepresented by patients of Caucasian background. We report here that the diagnostic success of de novo candidate CNVs in Vietnamese ASD patients is around 6%. We recruited one hundred trios (both parents and a child) where the child was clinically diagnosed with ASD while the parents were not affected. We performed genetic screening to exclude RETT syndrome and Fragile X syndrome and performed genome-wide DNA microarray (aCGH) on all probands and their parents to analyse for de novo CNVs. We detected 1708 non-redundant CNVs in 100 patients and 118 (7%) of them were de novo. Using the filter for known CNVs from the Simons Foundation Autism Research Initiative (SFARI) database, we identified six CNVs (one gain and five loss CNVs) in six patients (3 males and 3 females). Notably, 3 of our patients had a deletion involving the SHANK3 gene-which is the highest compared to previous reports. This is the first report of candidate CNVs in ASD patients from Vietnam and provides the framework for building a CNV based test as the first tier screening for clinical management.

Background Human cytochrome P450 (CYPs) genes are essential in metabolising drugs. Due to their high polymorphism, population-specific studies are of great interest. Aim This research examined the six CYP genes, including CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A5, and CYP4F2 in the Kinh Vietnamese (KHV) for population-scale precision medicine. Subjects and methods We processed data from a genomics database of 206 healthy and unrelated KHV individuals to calculate CYP allele frequencies. First, we compared the CYP genes of the KHV to six other populations retrieved from the 1000 Genomes Project. Second, we searched the PharmGBK database for drug-CYP interaction data to compile a drug dosage recommendation for the KHV. Results We observed the diverging trends in genetic variations of CYP2B6, CYP2D6, and CYP3A5 in the KHV. Regarding phenotypic drug responses in the KHV, CYP2C19 exhibited all metabolic phenotypes at a non-trivial frequency. In addition, CYP3A5 metabolised drugs at a lower rate compared to the other five CYPs. Conclusion This is the first large-scale study to investigate multiple CYP genes in the KHV for precision medicine from a public health perspective. Differences found in the distributions of metabolizers for the KHV suggest careful prescriptions for CYP2C19 and CYP3A5-metabolised drugs.

Vaccines are strongly recommended globally as an effective measure to prevent serious illness from and spread of COVID-19. Concerns about safety following vaccination continue to be the most common reason that people do not accept the vaccine. This retrospective study was carried out on 4341 people who received the first dose of ChAdOx1 nCoV-19, BBIBP-CorV, or mRNA-1273 vaccine at Jio Health Clinic in Ho Chi Minh City, Vietnam. Post-injection side effects were either reported by participants or actively collected by health care staff by means of telemedicine. Local side effects were reported by 35.5% of all individuals, with pain being the most common symptom (33.3%). Systemic side effects were reported by 44.2% of individuals, with fever (25.3%) and fatigue (21.4%) being the most common. Age ≤60 years, female gender, and ChAdOx1 nCoV-19 were significant independent risk factors for both local and systemic side effects, while a history of allergy was significant as a risk factor for local side effects. A total of 43 individuals (1.0%) reported concerning symptoms of rare severe complications, which were addressed and treated by physicians via Jio Health app.

A large amount of precious metals containing e-waste and wastewater is discharged into environment every day. Recovery of these metals can help not only protecting environment but also balancing their supply and demand. Supported liquid membrane with strip dispersion (SLMSD) is among the promising methods to recover metals from waste sources. Theoretically, simultaneous extraction and stripping using hydrophobic membrane would allow zero-waste as well as high metal concentration in receive phase. This research investigated the ability of recovering different metals such as indium, europium, yttrium using SLMSD. The investigation proved that SLMSD was able to remove more than 99.5 % metal ions from wastewater or leaching solution. High metal concentration was obtained by adjusting feed to strip volume ratio.

Solvent extraction is one of the most popular methods to recovery indium from wastewater. Multistage operation of conventional solvent extraction requires many extraction and stripping stages which leads to large foot print requirement and large amount of chemical usage. Supported liquid membrane with strip dispersion (SLMSD) allows simultaneous extraction and stripping which would lead to much more compact system as well as less solvent consumption. In this paper, the mass transfer rate of conventional solvent extraction (SX) and hollow fiber membrane contactor (SLMSD) were compared in different cases. Moreover, k.A values of SX and SLMSD in each case were also calculated (k is mass transfer coefficient and A is water – oil contact interfacial area). The results showed that mass transfer rate in SLMSD is slower than in solvent extraction due to smaller surface area of membrane contactor compared to interfacial area supplied by dispersion but the mass transfer coefficient is higher in SLMSD. The effect of oxalic acid – the co-occur inhibitor – is also investigated.

Abstract Biliary atresia (BA) is a progressive inflammation and fibrosis of the biliary tree characterized by the obstruction of bile flow, which results in liver failure, scarring and cirrhosis. This study aimed to explore the elusive aetiology of BA by conducting whole exome sequencing for 41 children with BA and their parents (35 trios, including 1 family with 2 BA-diagnosed children and 5 child-mother cases). We exclusively identified and validated a total of 28 variants (17 X-linked, 6 de novo and 5 homozygous) in 25 candidate genes from our BA cohort. These variants were among the 10% most deleterious and had a low minor allele frequency against the employed databases: Kinh Vietnamese (KHV), GnomAD and 1000 Genome Project. Interestingly, AMER1, INVS and OCRL variants were found in unrelated probands and were first reported in a BA cohort. Liver specimens and blood samples showed identical variants, suggesting that somatic variants were unlikely to occur during morphogenesis. Consistent with earlier attempts, this study implicated genetic heterogeneity and non-Mendelian inheritance of BA.

Chlorophyll-a concentration (Chl-a) is a crucial parameter for monitoring the water quality in coastal waters. The principal aim of this study is to evaluate the performance of existing Chl-a band ratio inversion models for estimating Chl-a from Sentinel2-MSI and Sentinel3-OLCI observation. This was performed using an extensive in situ Rrs-Chl-a dataset covering contrasted coastal waters (N = 1244, Chl-a (0.03–555.99) µg/L), which has been clustered into five optical water types (OWTs). Our results show that the blue/green inversion models are suitable to derive Chl-a over clear to medium turbid waters (OWTs 1, 2, and 3) while red/NIR models are adapted to retrieve Chl-a in turbid/high-Chl-a environments. As they exhibited the optimal performance considering these two groups of OWTs, MuBR (multiple band ratio) and NDCI (Normalized Difference Chlorophyll-a Index)-based models were merged using the probability values of the defined OWTs as the blending coefficients. Such a combination provides a reliable Chl-a prediction over the vast majority of the global coastal turbid waters (94%), as evidenced by a good performance on the validation dataset (e.g., MAPD = 21.64%). However, our study further illustrated that none of the evaluated algorithms yield satisfying Chl-a estimates in ultra-turbid waters, which are mainly associated with turbid river plumes (OWT 5). This finding highlights the limitation of multispectral ocean color observation in such optically extreme environments and also implies the interest to better explore hyperspectral Rrs information to predict Chl-a.

Artemisinin combination therapies (ACTs) are the WHO-recommended first-line therapies for uncomplicated Plasmodium falciparum malaria. The emergence and spread of artemisinin-resistant genotypes is a major global public health concern due to the increased rate of treatment failures that result. This is particularly germane for WHO designated 'high burden to high impact' (HBHI) countries, such as Burkina Faso, where there is increased emphasis on improving guidance, strategy, and coordination of local malaria response in an effort to reduce the prevalence of P. falciparum malaria. To explore how the increased adoption of ACTs may affect the HBHI malaria setting of Burkina Faso, we added spatial structure to a validated individual-based stochastic model of P. falciparum transmission and evaluated the long-term effects of increased ACT use. We explored how de novo emergence of artemisinin-resistant genotypes, such as pfkelch13 580Y, may occur under scenarios in which private-market drugs are eliminated or multiple first-line therapies (MFT) are deployed. We found that elimination of private market drugs would result in lower treatment failures rates (between 11.98% and 12.90%) when compared to the status quo (13.11%). However, scenarios incorporating MFT with equal deployment of artemether-lumefantrine (AL) and dihydroartemisinin-piperaquine (DHA-PPQ) may accelerate near-term drug resistance (580Y frequency ranging between 0.62 to 0.84 in model year 2038) and treatment failure rates (26.69% to 34.00% in 2038), due to early failure and substantially reduced treatment efficacy resulting from piperaquine-resistant genotypes. A rebalanced MFT approach (90% AL, 10% DHA-PPQ) results in approximately equal long-term outcomes to using AL alone but may be difficult to implement in practice.