Case Report: A novel hemizygous missense variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.

A pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders. An abnormal E1-alpha protein originating from the gene with pathogenic variants is unable to communicate with E1-beta for the formation of the E1 enzyme, decreasing pyruvate dehydrogenase complex activity. In this study, we report a Vietnamese boy with lethargy, severe metabolic acidosis, increased serum lactate, hyperalaninemia, lactic acidosis, and globus pallidus lesions.

A consultation and work-up diagnosis protocol for a multicancer early detection test: a case series study.

The emergence of multicancer early detection (MCED) tests holds promise for improving early cancer detection and public health outcomes. However, positive MCED test results require confirmation through recommended cancer diagnostic imaging modalities. To address these challenges, we have developed a consultation and work-up protocol for definitive diagnostic results post MCED testing, named SPOT-MAS.

Draft genome sequencing of halotolerant bacterium sp. DM10 unravels plant growth-promoting potentials.

In this study, strain DM10 was isolated from mangrove roots and characterized as a halotolerant plant growth-promoting bacterium. Strain DM10 exhibited the ability to solubilize phosphate, produce siderophore, show 1-aminocyclopropane-1-carboxylic acid deaminase activity, and hydrolyze starch. The rice plants subjected to a treatment of NaCl (200 mM) and inoculated with strain DM10 showed an improvement in the shoot length, root length, and dried weight, when compared to those exposed solely to saline treatment.

Tomato Fruit Detection Using Modified Yolov5m Model with Convolutional Neural Networks.

The farming industry is facing the major challenge of intensive and inefficient harvesting labors. Thus, an efficient and automated fruit harvesting system is required. In this study, three object classification models based on Yolov5m integrated with BoTNet, ShuffleNet, and GhostNet convolutional neural networks (CNNs), respectively, are proposed for the automatic detection of tomato fruit.

Comparative analysis of microRNA expression profiles in shoot and root tissues of contrasting rice cultivars (Oryza sativa L.) with different salt stress tolerance.

Rice is the second-most important primary crop in the world and one of the most susceptible crops to salt stress. Soil salinization hinders seedling growth and decreases crop yield by inducing ionic and osmotic imbalances, photosynthesis disturbances, cell wall alterations, and gene expression inhibition. Plants have developed a range of defense mechanisms to adapt to salt stress.

Classification of Tomato Fruit Using Yolov5 and Convolutional Neural Network Models.

Four deep learning frameworks consisting of Yolov5m and Yolov5m combined with ResNet50, ResNet-101, and EfficientNet-B0, respectively, are proposed for classifying tomato fruit on the vine into three categories: ripe, immature, and damaged. For a training dataset consisting of 4500 images and a training process with 200 epochs, a batch size of 128, and an image size of 224 × 224 pixels, the prediction accuracy for ripe and immature tomatoes is found to be 100% when combining Yolo5m with ResNet-101. Meanwhile, the prediction accuracy for damaged tomatoes is 94% when using Yolo5m with the Efficient-B0 model.

Draft Genome Sequence of sp. Strain C7 Isolated from Seawater in Con Bung Coast, Vietnam.

sp. strain C7 was isolated from seawater collected on the Con Bung coast, Vietnam. Here, we report a draft genome sequence of strain C7 consisting of 4,057,300 bp with 59.

Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients.

The X-linked hyper IgM syndrome is a primary immunodeficiency disorder (PID) due to mutations in the CD40LG gene. Hyper IgM syndrome is characterized by the absence or decreased levels of IgG and IgA and normal or elevated IgM levels in serum. Affected patients become susceptible to infections such as pneumonia, diarrhea, and skin ulcer types.

Characterization of a thermophilic cytochrome P450 of the CYP203A subfamily from Binh Chau hot spring in Vietnam.

Cytochromes P450 (CYPs or P450s) comprise a superfamily of heme-containing monooxygenases that are involved in a variety of biological processes. CYPs have broad utilities in industry, but most exhibit low thermostability, limiting their use on an industrial scale. Highly thermostable enzymes can be obtained from thermophiles in geothermal areas, including hot springs, offshore oil-producing wells and volcanoes.

A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature.

Background: Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders. Overlapping features between liver GSDs are a major challenge in the clinical diagnosis of them. Genetic testing can provide an early and accurate diagnosis of patients suspected with GSDs.

Epidemiological Characteristics of Advanced Hepatocellular Carcinoma in the Northern Region of Vietnam.

Epidemiological characteristics of hepatocellular carcinoma (HCC) in Southern Vietnam has been well reported as in Globocan 2018 while data from the North has still not been fully presented. Therefore, we conducted this retrospective descriptive study on 198 advanced HCC patients treated at 3 major hospitals in Northern Vietnam to describe demographic features, HCC risk factors, and correlation among them in patients with advanced HCC. This information will lead to prevention efforts and provide information for allocating funds for treatment.

The Role of p.Ser1105Ser (in Gene) and p.Arg548Leu (in Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic?

: Congenital nephrotic syndrome (CNS), a genetic disease caused by mutations in genes on autosomes, usually occurs in the first three months after birth. A number of genetic mutations in genes, which encode for the components of the glomerular filtration barrier have been identified. We investigated mutations in , , , and genes that relate to the disease in Vietnamese patients.