Search Results (12)

Objectives: This study aims to describe the clinical features and genetic findings of nine Vietnamese patients with autosomal recessive bestrophinopathy. Methods: This retrospective and cross-sectional study included individuals diagnosed with autosomal recessive bestrophinopathy at the Eye Clinic, Vietnam National Geriatric Hospital between May 2024 and April 2025. The patients underwent a visual acuity assessment, retinal multimodal imaging, and molecular testing through BEST1 gene sequencing. Results: Nine patients from seven unrelated families were included. The mean age was 38.6 years (range: 14.1–79.6). Visual acuity ranged from 20/20 to 20/125. All patients showed vitelliform lesions, subretinal deposits, and both intraretinal and subretinal fluid. Other main features included diffuse macular hyperfluorescence and hyperopia. Less common clinical features encompassed glaucoma, retinoschisis, outer retinal thinning, serous retinal detachment, retinal thickening, and thinning of the retinal pigment epithelium. Compound heterozygous or homozygous variants were detected in all patients. Among the five identified BEST1 variants, the most frequent were p.(A195V) and p.(R200*). One novel variant, p.(K289*), was detected. Conclusions: The main clinical retinal features of nine Vietnamese patients with autosomal recessive bestrophinopathy included vitelliform lesions, subretinal deposits, retinal fluid, and diffuse macular hyperfluorescence. The most common variants were p.(A195V) and p.(R200*). Additionally, the identification of various compound heterozygotes and a novel BEST1 variant expands the mutation spectrum of the disease. Full article

Hypopituitarism is a condition characterized by the deficiency of several hormones produced by the pituitary gland. Genetic factors play an important role. Variants in the POU1F1 gene are associated with combined pituitary hormone deficiency 1 (CPHD1), which manifests as deficiencies in growth hormone (GH), thyroid-stimulating hormone (TSH), and prolactin (PRL). This study aimed to analyze the phenotype, genotype, treatment, and outcomes of Vietnamese patients with deficiency. Six patients from five unrelated families, initially diagnosed with hypopituitarism, were enrolled in this study. Data on physical characteristics, biochemical tests, treatment, outcomes, and follow-up were collected. Exome sequencing and Sanger sequencing were conducted to identify disease-causing variants in five probands and their families. All six patients exhibited anterior pituitary hypoplasia on brain magnetic resonance imaging and presented with TSH, GH, and PRL deficiencies. Exome sequencing identified three variants in the POU1F1 gene: c.428G>A p.(Arg143Gln), c.557T>G p.(Leu186Arg), and c.811C>T p.(Arg271Trp). The c.811C>T p.(Arg271Trp) variant was found in three patients, while c.557T>G p.(Leu186Arg) is a novel variant. Based on the ACMG classification, these variants were categorized as likely pathogenic or pathogenic variants. All patients were definitively diagnosed with CPHD1 caused by POU1F1 variants. All patients received levothyroxine and recombinant human growth hormone (rhGH) replacement therapy, leading to considerable growth. During the first year of treatment, all patients showed excellent growth response, with height increases ranging from 11 to 24 cm. After three years of treatment, two patients achieved normal height. One of the six patients developed scoliosis during treatment, which resolved after a one-year pause in rhGH therapy. Upon resuming treatment, no recurrence of scoliosis was observed. Our findings reveal the importance of early hormone testing and genetic analysis in improving the care and outcomes for patients with combined pituitary hormone deficiency. Full article

Background: Sitosterolemia is a rare autosomal recessive disorder characterized by diverse clinical manifestations ranging from asymptomatic cases to the development of xanthomas, hypercholesterolemia, premature atherosclerosis, or even sudden death during childhood. It results from homozygous or compound heterozygous pathogenic variants in the ABCG5 or ABCG8 genes. Prompt detection and intervention are essential to managing this condition and preventing severe outcomes. Methods: This study aims to retrospectively analyze the phenotype, genotype, treatment, and outcomes of 14 children—seven boys and seven girls—all of Vietnamese origin, diagnosed with sitosterolemia at the Vietnam National Children’s Hospital between March 2015 and July 2024. Results: The median ages at disease onset and diagnosis were 5.7 years (range: 1.5–17.9) and 7.2 years (range: 1.7–17.9), respectively. Xanthomas were observed in 85.7% of patients (12/14), arthralgia in 14.3% (2/14), and anemia in 7.1% (1/14), with no cases of thrombocytopenia. At diagnosis, all patients exhibited elevated total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C), with considerably higher levels in patients with xanthomas compared to those without. Mutations in the ABCG5 gene were identified in 71.4% (10/14) of the patients, while 28.6% (4/14) had mutations in the ABCG8 gene. Fourteen variants were detected, nine in ABCG5 and five in ABCG8, with five variants reported for the first time in sitosterolemia patients. Initial management for all patients involved dietary modifications. After three months, 10 patients with persistently elevated TC and LDL-C received ezetimibe or cholestyramine treatment. Among the eight patients who continued treatment for over three months, the median TC and LDL-C concentrations decreased by 54.9% and 67.3%, respectively. Conclusions: Among Vietnamese patients with sitosterolemia, variants in the ABCG5 gene were more prevalent than those in the ABCG8 gene. Patients showed a positive response to ezetimibe or cholestyramine treatment. Genetic testing is essential for establishing a diagnosis of sitosterolemia and guiding accurate management strategies. Full article

Background and Objectives: 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. Genetic analysis is critical for diagnosis. Materials and Methods: This study encompassed retrospective and prospective analyses of four unrelated Vietnamese children diagnosed with HHH syndrome. Results: The age of diagnosis ranged from 10 days to 46 months. All four cases demonstrated hyperornithinemia and prolonged prothrombin time. Three out of four cases presented with hyperammonemia, elevated transaminases, and uraciluria. No homocitrulline was detected in the urine. Only one case depicted oroticaciduria. Genetic analyses revealed three pathogenic variants in the SLC25A15 gene, with the c.535C>T (p.Arg179*) variant common in Vietnamese patients. The c.562_564del (p.Phe188del) and c.408del (p.Met137Cysfs*10) variants were detected in one case. The latter variant has yet to be reported in the literature on HHH patients. After intervention with a protein-restricted diet, ammonia-reducing therapy, and L-carnitine supplementation, hyperammonemia was not observed, and liver enzyme levels returned to normal. Conclusions: Our results highlighted the clinical and biochemical heterogeneity of HHH syndrome and posed that HHH syndrome should be considered when individuals have hyperammonemia, elevated transaminase, and decreased prothrombin time. Full article

Linezolid is an antibiotic of last resort for the treatment of infections caused by Gram-positive bacteria, including vancomycin-resistant enterococci. Enterococcus faecalis, a member of enterococci, is a significant pathogen in nosocomial infections. E. faecalis resistance to linezolid is frequently related to the presence of optrA, which is often co-carried with fex, phenicol exporter genes, and erm genes encoding macrolide resistance. Therefore, the common use of antibiotics in veterinary might promote the occurrence of optrA in livestock settings. This is a cross-sectional study aiming to investigate the prevalence of optrA positive E. faecalis (OPEfs) in 6 reservoirs in farms in Ha Nam province, Vietnam, and its associated factors and to explore genetic relationships of OPEfs isolates. Among 639 collected samples, the prevalence of OPEfs was highest in flies, 46.8% (51/109), followed by chickens 37.3% (72/193), dogs 33.3% (17/51), humans 18.7% (26/139), wastewater 16.4% (11/67) and pigs 11.3%, (14/80). The total feeding area and total livestock unit of the farm were associated with the presence of OPEfs in chickens, flies, and wastewater. Among 186 OPEfs strains, 86% were resistant to linezolid. The presence of optrA was also related to the resistant phenotype against linezolid and levofloxacin of E. faecalis isolates. Close genotypic relationships identified by Pulsed Field Gel Electrophoresis between OPEfs isolates recovered from flies and other reservoirs including chickens, pigs, dogs, and wastewater suggested the role of flies in the transmission of antibiotic-resistant pathogens. These results provided warnings of linezolid resistance although it is not used in livestock. Full article

Indigenous chicken breeds have both cultural significance and economic value since they possess unique genetic characteristics that enable them to adapt to the local environment and contribute to biodiversity, food security, and sustainable agriculture in Vietnam. To (Tò in Vietnamese) chicken, a Vietnamese indigenous chicken breed, is popularly raised in Thai Binh province; however, little known is about the genetic diversity of this breed. In this study, we sequenced the complete mitochondrial genome of To chicken for a better understanding of the diversity and origin of the breed. The results of sequencing showed that the mitochondrial genome of To chicken spans a total length of 16,784 base pairs and comprises one non-coding control region (known as the displacement-loop (D-loop) region), two ribosomal RNA genes, 13 protein-coding genes, and 22 transfer RNA genes. The phylogenetic tree analyses and estimated genetic distances based on 31 complete mitochondrial genome sequences indicated that To chicken has a close genetic distance with the Laotian native chicken breed, Lv’erwu breed in China, and Nicobari black and Kadaknath breeds in India. The result of the current study might be important for conservation, breeding, and further genetic studies of To chicken. Full article

(1) Background: The present study measures the fear of COVID-19 among hospital healthcare workers and identifies several factors associated with increasing fear of COVID-19. (2) Methods: A cross-sectional, hospital-based survey was conducted on healthcare workforce recruited from the National Hospital of Tropical Diseases from 1 October 2021 and 20 October 2021. We selected the participants who have been directly involved in diagnosing, treating, or providing nursing care to patients with COVID-19. The primary data was collected via sending the invitation directly to the participants, utilizing structured self-completed questionnaires. The seven-item fear of COVID-19 scale was used to measure the data. The responses of 208 hospital healthcare workers were included in the final analysis. (3) Results: Total score of COVID-19 fear was 19.62 (SD = 5.22). The COVID-19 fear score of 7 items ranged from 2.38 (SD = 0.83) to 3.21 (SD = 0.96). The lowest and highest scores were the item ‘My hands become clammy when I think about Corona’ and the item ‘I am most afraid of corona’ was the highest, respectively. Linear regression of the COVID-19 fear showed that the factors positively correlated with the fear of COVID-19 among hospital healthcare workers were: being influenced by the community (p = 0.001), feeling at very high risk of COVID-19 (p = 0.03), and experiencing traumatic stress with an academic event (p = 0.042). (4) Conclusions: Although these findings merit further elaboration, these preliminary findings suggest relatively great fear of the COVID-19 pandemic among Vietnamese hospital healthcare workers and that social and personal connections are necessary for maintaining the mental wellbeing. Full article

Aconitum carmichaelii Debx. is a herbal species that contains many precious bioactive substances, which are alkaloids, flavonoids, steroids, and glycosides. Flavonoids, which are major secondary compounds, play an important role in maintaining redox balance in the cells of the plant body. Many flavonoids have antibacterial, antioxidant, and anticancer properties. However, studies have mainly focused on aconitine, which is a highly toxic group A poison belonging to the alkaloid group, but with little mention of flavonoids. The flavonoids in A. carmichaelii are a group of substances with high content, concentrated in leaves and flowers, including quercetin and kaempferol. F3′5′H (Flavonoid 3′5′-hydroxylase) has been identified as the key enzyme involved in the final steps of flavonoid biosynthesis in plants in general and in A. carmichaelii specifically. This study offers the first report, and demonstrates that the overexpression of the F3′5′H gene from a herbal plant, A. carmichaelii, increases flavonoid content in genetically modified tobacco plants. The A. carmichaelii gene was transformed into tobacco leaf tissue to create transgenic tobacco plants. The AcF3′5′H gene was incorporated into the tobacco genome and was expressed in four transgenic tobacco lines (T₀1, T₀3, T₀5, and T₀14). The F3′5′H content increased from 20.33% to 32.00% compared with that in non-transformed plants (P < 0.001). Therefore, the flavonoid content of four transgenic tobacco lines increased compared to the WT, from 69.23% to 122.23% (P < 0.001). The results of the successful expression of the AcF3′5′H gene in model tobacco plants are the basis for using the AcF3′5′H gene for improving flavonoid content in other medicinal plants. Thus, the AcF3′5′H gene considered in this work could be a candidate for gene technology to enhance flavonoid accumulation in plants. Full article

To accelerate the reduction in tuberculosis (TB) incidence, it is necessary to optimize the use of innovative tools and approaches available within a local context. This study evaluated the use of an existing network of community health workers (CHW) for active case finding, in combination with mobile chest X-ray (CXR) screening events and the expansion of Xpert MTB/RIF testing eligibility, in order to reach people with TB who had been missed by the current system. A controlled intervention study was conducted from January 2018 to March 2019 in five intervention and four control districts of two low to medium TB burden cities in Viet Nam. CHWs screened and referred eligible persons for CXR to TB care facilities or mobile screening events in the community. The initial diagnostic test was Xpert MTB/RIF for persons with parenchymal abnormalities suggestive of TB on CXR or otherwise on smear microscopy. We analyzed the TB care cascade by calculating the yield and number needed to screen (NNS), estimated the impact on TB notifications and conducted a pre-/postintervention comparison of TB notification rates using controlled, interrupted time series (ITS) analyses. We screened 30,336 individuals in both cities to detect and treat 243 individuals with TB, 88.9% of whom completed treatment successfully. All forms of TB notifications rose by +18.3% (95% CI: +15.8%, +20.8%). The ITS detected a significant postintervention step-increase in the intervention area for all-form TB notification rates (IRR(β6) = 1.221 (95% CI: 1.011, 1.475); p = 0.038). The combined use of CHWs for active case findings and mobile CXR screening expanded the access to and uptake of Xpert MTB/RIF testing and resulted in a significant increase in TB notifications. This model could serve as a blueprint for expansion throughout Vietnam. Moreover, the results demonstrate the need to optimize the use of the best available tools and approaches in order to end TB. Full article

The rate of exposure to second-hand smoke (SHS) is relatively high in several countries, including Vietnam, and health issues related to SHS have worsened in recent years, especially for pregnant women and their infants. Enhancement of knowledge, attitude, and practice (KAP) scores of pregnant women in Vietnam could raise practical interventions to protect their health and reduce complications of SHS. A cross-sectional study of 432 pregnant women who came to the Obstetrics Department of Bach Mai Hospital, Hanoi, Vietnam for antenatal care was conducted in 2016 to collect information about their KAP related to SHS. Composite mean scores from survey questions assessing their KAP were calculated on a 10-point scale, finding mean scores of 4.19, 7.45, and 4.30, respectively. Higher scores indicated better knowledge, attitude, and practice. Generalized linear models identified that age, occupation, living place, and sources of information were associated with SHS-related KAP. Findings from this study indicate that suitable programs related to SHS should be implemented to improve and reinforce health literacy to both mothers and smokers to reduce the harmfulness of smoking on women and their infants’ health. Full article

The present study investigated the kinetics and formation of hydroxylated and chlorinated intermediates during electrochemical oxidation of salicylic acid (SA). A chloride (NaCl) and sulfate (Na₂SO₄) electrolyte were used, along with two different anode materials, boron doped diamond (BDD) and platinum (Pt). Bulk electrolysis of SA confirmed the formation of both hydroxylated and chlorinated intermediates. In line with the density functional theory (DFT) calculations performed in this study, 2,5- and 2,3-dihydroxybenzoic acid, 3- and 5- chlorosalicylic acid and 3,5-dichlorosalicylic acid were the dominating products. In the presence of a chloride electrolyte, the formation of chlorinated intermediates was the predominant oxidation mechanism on both BDD and Pt anodes. In the absence of a chloride electrolyte, hydroxylated intermediates prevailed on the Pt anode and suggested the formation of sulfonated SA intermediates on the BDD anode. Furthermore, direct oxidation at the anode surface only played a subordinate role. First order kinetic models successfully described the degradation of SA and the formation of the observed intermediates. Rate constants provided by the model showed that chlorination of SA can take place at up to more than 60 times faster rates than hydroxylation. In conclusion, the formation of chlorinated intermediates during electrochemical oxidation of the organic model pollutant SA is confirmed and found to be dominant in chloride containing waters. Full article

Introduction: Although e-health interventions are widely implemented as a supportive measure to smoking cessation, there is a lack of evidence in the feasibility of its application among Vietnamese youths, which is considered to be one of the most frequent internet using populations. This study assessed the quitting attempts among smokers and their preference and willingness to pay for smartphone-based cessation supporting applications in a sample of active internet users approached. Methods: A total of 1082 participants were recruited for the online-based survey from August to October 2015 in Vietnam. Information on sociodemographic characteristics, health information seeking behaviors on the internet, smoking status, quitting attempts and willingness to pay for smartphone-based cessation supporting applications were collected. Multivariate logistic regression was used to determine the associated factors with current smoking and willingness to pay for the smoking cessation application. Results: About 11% of participants were current smokers while 73.4% had attempted to quit smoking. Only 26.8% of the individuals indicated that they were willing to utilize a smartphone application to assist them in quitting. Participants who were male, had partners/spouse and lived at other places were more likely to smoke cigarette. Meanwhile, people who spent 50–70% of their online time to read health information were less likely to smoke. Results also show that living with family and never sharing health information on the internet were negatively associated with a participant’s willingness to pay for the smartphone application. Meanwhile, people who highly trusted health information were more likely to be willing to pay for the application. Conclusions: This prevalence of smoking and associated factors can provide potential indicators for creating several public health interventions in the new environment with the increasing development of information technology. This study implies that in order to expand the coverage of smoking cessation interventions, we recommend the integration of e-health interventions with clinical- or telephone-based conventional models by providing smartphone applications and information on the internet from reliable sources. Full article