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International audience; Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) uses systematic curation to distinguish ID/ASD genes that are appropriate for clinical testing (ie, with substantial evidence supporting their relationship to disease) from those that are not.Methods: Using the Clinical Genome Resource gene-disease validity curation framework, the ID/Autism GCEP classified genes frequently included on clinical ID/ASD testing panels as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relationship.Results: As of September 2021, 156 gene-disease pairs have been evaluated. Although most (75%) were determined to have definitive roles in NDDs, 22 (14%) genes evaluated had either Limited or Disputed evidence. Such genes are currently not recommended for use in clinical testing owing to the limited ability to assess the effect of identified variants.Conclusion: Our understanding of gene-disease relationships evolves over time; new relationships are discovered and previously-held conclusions may be questioned. Without periodic re-examination, inaccurate gene-disease claims may be perpetuated. The ID/Autism GCEP will continue to evaluate these claims to improve diagnosis and clinical care for NDDs.

Artemisinin combination therapies (ACTs) are highly effective at treating uncomplicatedPlasmodium falciparummalaria. However, the emergence of a novelpfkelch13R561H mutation in Rwanda, with associated delayed parasite clearance, suggests that drug policy interventions are needed to delay the fixation and slow the spread of this mutation. Using a spatial, stochastic, individual-based model calibrated and validated for the Rwanda’s malaria epidemiology, we evaluate seventeen strategies aimed at minimizing treatment failures and delaying the spread of R561H. The primary measures evaluated are projected treatment failures and R561H allele frequency over three, five, and ten years. Lengthening courses of treatment, deploying multiple first-line therapies, and custom rotation strategies all provide a benefit when compared to the status quo. The best intervention options, five years into the future, result in slower spread of R561H (0.16 allele frequency difference) and absolute treatment failure counts that are 44% lower than projected under the status quo.

This study is to design an integrated eco-agricultural system for waste treatment in the acidic soil areas in the Mekong Delta. The system is based on recycling all of the materials (from the inputs, outputs, and wastes) under conditions of acidic soil towards zero emissions and maintaining sustainability for farmers' livelihood. The system is demonstrated at Vo Van Tham's farm in Thanh An Commune, Thanh Hoa District, Long An Province. The cost investment is 80,000,000 VND, and the cost is 60,000,000 VND for operating per year. The results show that the proposed system has benefits for the environment, for example wastewater is collected and treated at is178 m3/day, reduce the emission of 756 tons CO2t/year. 50% the amount of pig manure (about 3 tons/day) is separated from pig shed discharges entering the biogas system. It also helps to increase household income (the expected income is about 160,000,000 VND/year, and the payback period is less than 1 year). In addition, solutions are used for alleviating soil acidity level, increase soil pH, and reducing aluminum toxicity in the area. This can help utilize difficult conditions of the acidic soil. Therefore, the proposed system can be applied widely for surrounding areas with similar livelihood activities, and natural conditions.

The purpose of this study is to reuse shrimp pond bottom sludge for industrial-scale organic fertilizer production, to reduce emissions from shrimp farming, and protect the environment. Sludge from the bottom of shrimp ponds is collected through channel settling with a filter net of 0.25 millimeters in size, rainwater is used to wash the salt content in the sludge of shrimp ponds. When the EC (Electrical Conductivity) of the sludge drops below 4 mS / cm, the sludge is mixed with dry straw at the rate of 1 ton of sludge with 250 kg of straw. The products of this rice straw and sludge mixing process are bio-fermented in two phases including anaerobic phase and aerobic phase. The results showed that the sludge-based fertilizers meet national technical regulation QCVN 01- 189: 2019/BNNPTNT. Of quality parameters, total organic carbon, macronutrients (N, P2O5, K2O), trace metals (Zn, Cu), and other heavy metals (Pb, Cd) are within the regulation limits. The paper also shows the potential of reusing shrimp pond bottom sludge for industrial-scale organic fertilizer production, with the possibility of utilizing nutrients contained in the sludge supplied to crops, especially reducing environmental pollution from intensive shrimp farming.

Supported liquid membrane with strip dispersion (SLMSD) is a promising process for metal recovery from e-waste or waste streams because of many advantages such as the ability to combine extraction and stripping into one single step and thus have non-equilibrium mass transfer characteristics and maximum driving force. This paper investigated the effect of important factors on SLMSD performance to recover indium from etching solution such as: pH of feed solution, extractant (Di-(2-ethylhexyl) phosphoric acid (D2EHPA)) concentration, oxalic acid concentration. It was found that 99.5 % In3+ was removed from feed solution in about 20 minutes with high concentration factor (4.5) under suitable conditions (pH 1; 0.6M Di-(2-ethylhexyl) phosphoric acid (D2EHPA), 2 wt% oxalic acid).

Cadastral maps are an important part of cadastral documents, they are legal component of land administration in local authorities. Traditionally, a cadastral map is established by using land surveying methods which can provide high accuracy as required. In recent years, the UAV devices are developed and can provide an accurately tool for cadastral mapping on arable lands. This paper presents an evaluation of UAV application in cadastral mapping in comparison with traditional surveying for arable land. The results show that using UAV images in the mapping of agricultural land can achieve ground accuracy of 1,7 cm and height accuracy of 0,6 cm; In addition, when comparing the average accuracy of the 30 plot vertices and the mean lengths from 29 pairs of edges between the newly created map from the UAV image data and the map provided by the Department of Natural Resources and Environment of Phu Tho province, respectively is: 0,181 m and: 0,051 m.

The aim of this study was to evaluate the safety and efficacy of autologous bone marrow mononuclear cell transplantation combined with educational intervention for children with autism spectrum disorder. An open‐label clinical trial was performed from July 2017 to August 2019 at Vinmec International Hospital, Hanoi, Vietnam. Thirty children who fulfilled the autism criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, and had Childhood Autism Rating Scale (CARS) scores >37 were selected. Bone marrow was harvested by anterior iliac crest puncture under general anesthesia. The volume collected was as follows: 8 mL/kg for patients under 10 kg (80 mL + [body weight in kg − 10] × 7 mL) for patients above 10 kg. Mononuclear cells were isolated with a Ficoll gradient and then infused intrathecally. The same procedure was repeated 6 months later. After the first transplantation, all patients underwent 8 weeks of educational intervention based on the Early Start Denver Model. There were no severe adverse events associated with transplantation. The severity of autism spectrum disorder (ASD) was significantly reduced, with the median CARS score decreasing from 50 (range 40‐55.5) to 46.5 (range 33.5‐53.5) (P

This paper analyzes the impact of base erosion and profit shifting (BEPS)on tax revenue in Southeast Asian countries for the period of 2012-2017. ASEAN countries are mostly developing countries with little experience dealing with the aggressive tax strategies of multinational corporations (MNEs). Accordingly, measuring the impact of BEPS on tax revenue in Southeast Asian countries is essential and urgent. Specifically, this paper measures BEPS by offshore index using the Offshore Investment Matrix approach proposed by UNCTAD (2015). According to this approach, 3.6% of inflow foreign direct investment in six Southeast Asian countries for the period of 2012-2017 originated from tax havens and specialpurpose tax countries. The empirical simulation shows that about $ 2.195 billion of the tax revenue of Southeast Asian countries in2017 is lost because of BEPS.

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.

Biliary atresia (BA) is a progressive inflammation and fibrosis of the biliary tree, characterized by the obstruction of bile flow led to liver failure, scarring and cirrhosis. This study aimed to explore the elusive etiology of BA by conducting whole exome sequencing (WES) for 41 children with BA and their parents (35 trios, including one family with two BA diagnosed children and five child-mother cases). We exclusively identified and validated a total of 28 variants (17 X-linked, six de novo and five homozygous) in 25 candidate genes from our BA cohort. These variants were among the 10% most deleterious and having a low minor allele frequency against three employed databases: Kinh Vietnamese (KHV), gnomad and 1000 Genome project. Interestingly, AMER1, INVS and OCRL variants were repeatedly found in unrelated probands, and were firstly reported in a BA cohort. Liver specimens and blood samples showed identical variants, suggesting that somatic mutations were unlikely to occur during the morphogenesis. In agreement with earlier attempts, this study implicated a genetical heterogeneity and non-Mendelian inheritance of BA.

Large scale human genome projects have created tremendous human genome databases for some well-studied populations. Vietnam has about 95 million people (the 14th largest country by population in the world) of which more than 86% are Kinh people. To date, genetic studies for Vietnamese people mostly rely on genetic information from other populations. Building a Vietnamese human genetic variation database is a must for properly interpreting Vietnamese genetic variants. To this end, we sequenced 105 whole genomes and 200 whole exomes of 305 unrelated Kinh Vietnamese (KHV) people. We also included 101 other previously published KHV genomes to build a Vietnamese human genetic variation database of 406 KHV people. The KHV database contains 24.81 million variants (22.47 million single nucleotide polymorphisms (SNPs) and 2.34 million indels) of which 0.71 million variants are novel. It includes more than 99.3% of variants with a frequency of >1% in the KHV population. Noticeably, the KHV database revealed 107 variants reported in the human genome mutation database as pathological mutations with a frequency above 1% in the KHV population. The KHV database (available at https://genomes.vn) would be beneficial for genetic studies and medical applications not only for the Vietnamese population but also for other closely related populations.

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.

Escherichia coli has been a robust host strain for much biological research, in particular, research in metabolic engineering, protein engineering, and heterologous gene expression. In this mini review, to understand bacterial hydrogen production by E. coli, the effect of glucose and glycerol metabolism on hydrogen production is compared, and the current approaches to enhance hydrogen production from glycerol as a substrate are reviewed. In addition, the argument from past to present on the functions of E. coli hydrogenases, hydrogenase 1, hydrogenase 2, hydrogenase 3, and hydrogenase 4 is summarized. Furthermore, based on the literature that the E. coli formate-hydrogen lyase is essential for bacterial hydrogen production via recombinant hydrogenases, research achievements from the past regarding heterologous production of hydrogenase are rethought.

Cyanobacteria are widely distributed in marine, aquatic, and terrestrial ecosystems, and play an important role in the global nitrogen cycle. In the present study, we examined the genome sequence of the thermophilic non-heterocystous N2-fixing cyanobacterium, Thermoleptolyngbya sp. O-77 (formerly known as Leptolyngbya sp. O-77) and characterized its nitrogenase activity. The genome of this cyanobacterial strain O-77 consists of a single chromosome containing a nitrogen fixation gene cluster. A phylogenetic analysis indicated that the NifH amino acid sequence from strain O-77 was clustered with those from a group of mesophilic species: the highest identity was found in Leptolyngbya sp. KIOST-1 (97.9% sequence identity). The nitrogenase activity of O-77 cells was dependent on illumination, whereas a high intensity of light of 40 μmol m-2 s-1 suppressed the effects of illumination.

This letter is a response to the commentary by Jonson & Do (Johnson and Do 2020) on our paper, entitled “A Vietnamese human genetic variation database” (Vinh et al. 2019). The commentators concerned about two issues: Firstly, the relation of Southeast Asian (SEA) and East Asian (EA) groups to African and European groups; Secondly, the history of migration and settlement in Southeast Asia. Our responses will clarify both concerns from the commentators.

Merosin deficient congenital muscular dystrophy type 1A (MDC1A) is caused by defects in the LAMA2 gene. Patients with MDC1A exhibit severe symptoms, including congenital hypotonia, delayed motor development and contractures. The present case report describes a Vietnamese male child with clinical manifestations of delayed motor development, limb-girdle muscular dystrophy, severe scoliosis and white matter abnormality in the brain. Whole exome sequencing (WES) was performed with subsequent validation using Sanger sequencing, and a de novo missense variant (NM_000426.3:c.1964T>C, p.Leu655Pro) and a splice site variant (NG_008678.1:c.3556-13T>A) in the LAMA2 gene of the proband was detected. The missense variant located in exon 14 and has not been reported previously, to the best of our knowledge; whereas the splice site variant has been previously reported to cause premature termination of transcription in patients with MDC1A. In silico tools predicted that the missense variant was damaging. Phenotype-genotype analysis suggested that this proband was associated with classical early onset MDC1A. The co-existence of a de novo and a heterozygous variant in the LAMA2 gene suggested that the de novo variant contributed to the autosomal recessive manner of the disease. Careful consideration of this event by clinical confirmation of parental carrier status may help to accurately determine the risk of occurrence of this disease in future offspring. Additionally, WES is recommended as a powerful tool to assist in identifying potentially causative variants for heterogeneous diseases such as MDC1A.

In this study, the approach of a sustainable livelihood framework following the guidance of the Department for International Development (DFID) is used to assess the livelihoods of people in rural areas of Tan Phuoc district, Tien Giang province. This is one of the acid sulphate soil areas of the Mekong Delta. Sustainable livelihood framework according to Department for International Development in the study will consider the assets of Tan Phuoc district people to ensure livelihoods including human capital, physical capital, financial capital, natural capital, and social capital. The results show that most of the capital for developing livelihoods of people in this area is poor (natural capital, human capital, social capital, financial capital), only physical capital is considered to meet the current development needs. They are the basis for proposing development orientations for Tan Phuoc district in the future, including socio-economic development, labor quality improvement and the number of professionally trained people. Besides, there are specific s upport policies for people and there are many sources of capital to help people access policies easily. To solve this problem, first of all, it is necessary to develop development plans of regions according to natural conditions, continue to improve the skills of local communities and provide specific support policies for livelihood activities. Attract many different sources of investment capital for the locality so that people can easily access, improve the income of local people in the future, especially need a population development strategy corresponding to the development conditions of the district. The analysis is based on aggregate collected data on the different types of livelihoods in the province, so they are of great overall value. However, this is also the basis for conducting detailed studies and investigations for further studies with the aim of having accurate information and correct assessment of the current livelihood status of each district and livelihood group.

The work studied a separation process scheme combining extraction and stripping with membrane oil–water separators. By using hydrophobic membrane modules as oil–water separators, the extractant–containing organic solution could move forward and backward between extraction and stripping vessels while the passage of aqueous solutions (feed and strip solutions) was prevented by membrane hydrophobicity. Therefore, the feed and strip solutions did not contact each other, but the ion-extractant complexes flowed from the extraction vessel to the stripping vessel to allow for extractant regeneration and the regenerated extractant then flowed back to the extraction vessel to enhance extraction efficiency. Compared to the supported liquid membrane process that used hydrophobic membranes as oil–water contactors, the present scheme used the dispersion of aqueous solution in organic solution to provide the major surface area for extraction and the need for membrane surface area could be reduced. The process was applied to recovery of indium from aqueous feed solution containing oxalic acid, which could form complex with indium ions and thus reduced the extraction efficiency. The results show that the studied process effectively enhanced the indium recovery efficiency: for 360 ml of 160 ppm indium aqueous solution (containing 2 wt% of oxalic acid), 99% removal of indium ions was accomplished in 30 min of operation, with 0.08 M of Di-(2-ethylhexyl) phosphoric acid (D2EHPA) in the organic solution, while 20 ppm of indium still remained in the feed using the traditional solvent extraction process with the same organic solution and D2EHPA concentration.

Glycerol is an inexpensive and abundant source for biofuel production on a large scale. Escherichia coli is a robust bacterium for producing hydrogen; however, its hydrogen productivity from glycerol is low. In this study, we conducted random transposon mutagenesis to identify uncharacterized genes whose inactivation is beneficial for hydrogen production from glycerol. Through screening, four mutant strains were found that are able to have from 1.3- to 1.6-fold higher hydrogen productivity (μmol H2/mg protein) than that of their parent strain (p < 0.05). These mutations were identified as aroM, gatZ, ycgR, and yfgI. The hydrogen yield (mol H2/mol glycerol consumed) of the aroM, gatZ, ycgR, and yfgI strains was 1.7-, 1.4-, 2.4-, and 2.1-fold higher than that of their parent strain, respectively. Moreover, a single disruption in these genes resulted in a faster cell growth and glycerol consumption under anaerobic conditions. In E. coli, AroM is predicted to be involved in the shikimate pathway, GatZ is tagatose-1,6-bisphosphate aldolase 2 which converts dihydroxyacetone phosphate to 1,6-biphosphate, and YcgR acts as a molecular brake limiting the swimming speed and ATP consumption. So far, the function of YfgI in general and in hydrogen production in particular remains unknown.

The kinetics of lignin methylsulfonation were studied in solution by using differential scanning calorimetry (DSC) techniques under an isothermal program, at 55, 65, 75 and 85°C, respectively. It was found that activation energy, Eα = 41.26 kJ/mol, and preexponential factor A was 1.85×103 s-1.