Publications by authors named "Nguyen Ngoc Lan"

: This study aimed to assess the effectiveness of the COVID-19 vaccine on the outcomes of patients in three hospitals in Vietnam. : An observational study involved 3102 confirmed COVID-19 patients from Vietnam. Participants were classified into unvaccinated, partially vaccinated (one dose) (PV), fully vaccinated (two doses) (FV), and boosted (three doses) groups.

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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.

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: Cardiomyopathy, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), is a major cause of heart failure (HF) and a leading indication for heart transplantation. Of these patients, 20-50% have a genetic cause, so understanding the genetic basis of cardiomyopathy will provide knowledge about the pathogenesis of the disease for diagnosis, treatment, prevention, and genetic counseling for families. : This study collected nine patients from different Vietnamese families for genetic analysis at The Cardiovascular Center, E Hospital, Hanoi, Vietnam.

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: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH; OMIM 238970) is one of the rare urea cycle disorders. Ornithine carrier 1 deficiency causes HHH syndrome, characterized by failure of mitochondrial ornithine uptake, hyperammonemia, and accumulation of ornithine and lysine in the cytoplasm. The initial presentation and time of diagnosis in HHH highly varies.

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Article Synopsis
  • Skeletal dysplasias are a group of rare genetic disorders that disrupt the normal development of bones and cartilage, with over 770 documented cases.
  • A 13-month-old girl presented with jaundice and failure to thrive, leading to blood tests that showed abnormal levels of bilirubin and calcium, alongside irregular bone development.
  • Whole exome sequencing identified a specific mutation in the BAAT gene as the cause of her skeletal dysplasia, contributing important genetic insights for future clinical applications.
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We aimed to determine the role of cathepsin S (CTSS) in modulating oxidative stress-induced immune and inflammatory reactions and angiogenesis in age-related macular degeneration. Human retinal pigment epithelium cells line ARPE-19 (immature) were maintained and treated with HO. The expression of CTSS, inflammatory cytokines, and complement factors induced by oxidative stress was compared between cells incubated without (control) and with CTSS knockdown (using small interfering ribonucleic acid; siRNA).

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This study investigates the role of all-trans retinoic acid (ATRA) in modulating the expression of heat shock protein 90 (Hsp90) and its influence on the uptake and degradation of tau proteins in immortalized human microglia cells. We demonstrate that ATRA significantly upregulates Hsp90 expression in a concentration-dependent manner, enhancing both extracellular and intracellular Hsp90 levels. Our results show that ATRA-treated cells exhibit increased tau protein uptake via caveolae/raft-dependent endocytosis pathways.

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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.

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Rationale: Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden-Spatz syndrome, is a rare autosomal recessive disease associated with brain iron accumulation and characterized by progressive dystonia, dementia, and dysarthria symptoms. PKAN, caused by a defective pantothenate kinase 2 (PANK2) gene, is the most common neurodegeneration with a brain iron accumulation (NBIA) group. The "eye of the tiger" sign in the magnetic resonance imaging demonstrated a bilateral hyperintense signal in the basal ganglia region on T2-weighted images, which is a characteristic feature of the diagnosis.

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Background/aim: Although the expression of mucin 1(MUC1) and prostate stem cell antigen (PSCA) genes is correlated with gastric cancer development and progression, the utility of these two genes as biomarkers of gastric cancer prognosis still needs to be confirmed in clinical practice. This study aimed to develop a model predictive of gastric cancer that integrates several significant single nucleotide polymorphisms (SNPs) of MUC1 and PSCA genes, and some health-risk behavior factors in a Vietnamese population.

Patients And Methods: A total of 302 patients with primary gastric carcinoma and 304 healthy persons were included in a case-control study.

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Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient congenital muscular dystrophy (-MD), is an autosomal recessive disease caused by biallelic variants in the gene. In MDC1A, laminin- α2 chain expression is absent or significantly reduced, leading to some early-onset clinical symptoms including severe hypotonia, muscle weakness, skeletal deformity, non-ambulation, and respiratory insufficiency. Six patients from five unrelated Vietnamese families presenting with congenital muscular dystrophy were investigated.

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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.

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Multisystem inflammatory syndrome is associated with COVID-19 and can result in reduced food intake, increased muscle catabolism, and electrolyte imbalance. Therefore COVID-19 patients are at high risk of being malnourished and of refeeding syndrome. The present study aimed to determine the prevalence and correlates of malnutrition and refeeding syndrome (RS) among COVID-19 patients in Hanoi, Vietnam.

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Viet Nam has a coastline of 3200 km with thousands of islands providing diverse habitats for benthic harmful algal species including species of Gambierdiscus. Some of these species produce ciguatera toxins, which may accumulate in large carnivore fish potentially posing major threats to public health. This study reports five species of Gambierdiscus from Vietnamese waters, notably G.

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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.

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Article Synopsis
  • * A study involving 70 infants diagnosed with NDM at the Vietnam National Children's Hospital found that 78.5% had known mutations, with many experiencing diabetic complications but showing normal development after 5.5 years of insulin treatment.
  • * The research highlights that certain mutations are a common cause of permanent NDM and suggests that genetic screening for these mutations should be part of the diagnosis process for diabetic children in their first year of life.
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Chloroaluminate ionic liquid bound on magnetic nanoparticles (FeO@OSi[PrMIM]Cl·AlCl) was prepared and used as a heterogenous Lewis acidic catalyst for the Friedel-Crafts sulfonylation of aromatic compounds with sulfonyl chlorides or -toluenesulfonic anhydride. The catalyst's stability, efficiency, easy recovery, and high recyclability without considerable loss of catalytic capability after four recycles were evidence of its advantages. Furthermore, the stoichiometry, wide substrate scope, short reaction time, high yield of sulfones, and solvent-free reaction condition also made this procedure practical, ecofriendly, and economical.

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Rationale: Hepatobiliary diseases such as biliary atresia (BA), Wilson disease, and progressive familial intrahepatic cholestasis are common causes of morbidity and mortality in young children. Affected patients progress rapidly to end-stage cirrhosis and require liver transplantation or die. Mutations in many genes have been identified to play an important role in the pathogenesis of hepatobiliary diseases.

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Article Synopsis
  • Biliary atresia (BA) is a severe liver condition in infants that can be fatal if not treated quickly, and its cause remains unknown.
  • The study investigates the link between the p.Val444Ala variant in the ABCB11 gene and susceptibility to BA in Vietnamese patients, finding a significant association with the disease.
  • Results indicate that specific genotypes (CC and TC) are more common in BA patients than in healthy individuals, suggesting that the C allele increases the risk of developing BA.
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Background: Neonatal diabetes mellitus (NDM) is defined as insulin-requiring persistent hyperglycemia occurring within the first 6 months of life, which can result from mutations in at least 25 different genes. Activating heterozygous mutations in genes encoding either of the subunits of the ATP-sensitive K channel (K channel; or ) of the pancreatic beta cell are the most common cause of permanent NDM and the second most common cause of transient NDM. Patients with NDM caused by K channel mutations are sensitive to sulfonylurea (SU) treatment; therefore, their clinical management can be improved by replacing insulin with oral agents.

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Background: A few studies revealed that the polymorphisms of gene have a role and significance as a susceptible factor contributing to gastric cancer. To better understand the roles of two genotype polymorphisms of rs4072037 and rs2070803 in the development of gastric cancer in Vietnamese population, a multicenter, large-sample, case-control study was conducted to investigate the potential association of these single-nucleotide polymorphisms (SNPs) of gene with gastric cancer risk and to evaluate the combination factors in relation with these SNPs.

Methods: This case-control study included 302 gastric cancer patients and 304 controls at four national medical hospitals between 2016 and 2018.

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Chemical investigation of the leaves and stems of Dioscorea bulbifera resulted in isolation of 10 compounds, including three new norclerodane diterpenoids, diosbulbiferins A (1) and B (2) and diosbulbiferinoside A (3), and one new natural congener, diosbulbiferin C (4), along with one new tetrahydrophenanthrene, diosbulbinone (8). Their structures were elucidated by comprehensive analyses of spectroscopic methods, including NMR and mass spectra. The absolute configurations of compounds 1-3 and 8 were deduced by time-dependent density functional theory (TD-DFT) electronic circular dichroism (ECD) spectroscopic analyses.

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Background: Primordial dwarfism (PD) is a group of genetically heterogeneous disorders related to developmental disabilities occurring in the uterus and prolongs during all stages of life, resulting in short stature, facial deformities and abnormal brain.

Objective: To determine the exact cause of the disease in two Vietnamese patients priory diagnosed with PD by severe pre-and postnatal growth retardation with marked microcephaly and some bone abnormalities.

Methods: Whole-exome sequencing was performed for the two patients and mutations in genes related to PD were screened.

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The nitroxide spin label is the most widely used probe for electron paramagnetic resonance (EPR) spectroscopy studies of the structure and function of biomolecules. However, the role of surrounding environments in determining the dynamics of nitroxide spin labels in biological complex systems remains to be clarified. This study aims to characterize the dynamics and environmental structure of spin labels in the voltage-sensing domain (VSD) of a KvAP potassium channel by means of molecular dynamics (MD) studies.

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