Type 2 diabetes mellitus (T2DM) is a genetically influenced disease, but few studies have been performed to investigate the genetic basis of T2DM in Vietnamese subjects. Thus, the potential associations of KCNJ11 and ABCC8 single nucleotide polymorphisms (SNPs) with T2DM were investigated in a Kinh Vietnamese population. A cross-sectional study consisting of 404 subjects including 202 T2DM cases and 202 non-T2DM controls was designed to examine the potential associations of 4 KCNJ11 and ABCC8 SNPs (rs5219, rs2285676, rs1799859, and rs757110) with T2DM. Genotypes were identified based on restriction fragment length polymorphism and tetra-primer amplification refractory mutation system polymerase chain reaction. After statistically adjusting for age, sex, and BMI, rs5219 was found to be associated with an increased risk of T2DM under 2 inheritance models: codominant (OR = 2.15, 95% confidence intervals [CI] = 1.09–4.22) and recessive (OR = 2.08, 95%CI = 1.09–3.94). On the other hand, rs2285676, rs1799859, and rs757110 were not associated with an increased risk of T2DM. Haplotype analysis elucidated a strong linkage disequilibrium between the 3 SNPs, rs5219, rs2285676, and rs757110. The haplotype rs5219(A)/rs2285676(T)/rs757110(G) was associated with an increased risk of T2DM (OR = 1.42, 95%CI = 1.01–1.99). The results show that rs5219 is a lead candidate SNP associated with an increased risk of developing T2DM in the Kinh Vietnamese population. Further functional characterization is needed to uncover the mechanism underlying the potential genotype-phenotype associations.
Elevated blood pressure (BP) is a growing burden worldwide, leading to over 10 million deaths each year. May Measurement Month (MMM) is a global initiative to raise awareness of high BP and act as a temporary solution to the lack of screening programmes worldwide. We aimed to screen for hypertension and cardiovascular risk factors in people aged ≥18 years in the community, thereby defining the proportion of subjects with elevated BP and assess the awareness and the effectiveness of its treatment. An opportunistic cross-sectional survey of volunteers aged ≥18 years was carried out in May 2019. Blood pressure measurement, the definition of hypertension and statistical analysis followed the standard MMM protocol. From May 2019 to June 2019, through 10 cities/provinces in Vietnam, 25 887 individuals with mean age 48.7 (SD ±17.7) years were screened. After multiple imputations, 8758 (33.8%) had hypertension. Of individuals not receiving antihypertensive medication, 3025 (15.0%) were hypertensive. Of individuals receiving antihypertensive medication, 2800 (48.8%) had uncontrolled BP. Raised BP [systolic BP (SBP) ≥140 mmHg and/or diastolic BP (DBP) ≥90 mmHg] was also associated with additional risk factors including smoking, alcohol intake, previous hypertension in pregnancy, and obesity. May Measurement Month 2019 was the most extensive BP screening campaign ever undertaken in Vietnam. Undiagnosed and uncontrolled hypertension in Vietnam remains a substantial health problem. Local campaigns applying standardized methods such as MMM 2019 will be beneficial to screen for the significant number of individuals with raised BP and increase the awareness of hypertension.
Introduction: Obstructive Sleep Apnea Syndrome (OSAS) is the most common respiratory disorder during sleep. Many studies have shown an association between obstructive sleep apnea syndrome and stroke, and OSAS has not been adequately considered in Vietnam compared to the actual clinical dangers. This study aims to assess the prevalence and general characteristics of obstructive sleep apnea syndrome in patients with cerebral infarction and investigate the relationship between obstructive sleep apnea syndrome and the severity of cerebral infarction.Methods: Descriptive cross-sectional study. We identified 56 participants from August 2018 to July 2019. Subacute infarcts were identified by neuroradiologists. For each participant, vascular risk factors, medications, clinical symptoms, and neurological examination were abstracted from the medical record. Patients were taken for history and clinical examination. The patients were divided into two groups according to their AHI (Apnea-Hypopnea Index) (<5 and ≥5).Results: A total of 56 patients were registered for the study. The mean age is 67.70 ± 11.07. The proportion of men is 53.6%. AHI has a positive correlation with neck circumference (r = 0.4), BMI (r = 0.38), the Epworth Sleepiness Scale (r = 0.61), LDL cholesterol (r = 0.38), the Modified Rankin Scale (r = 0.49), NIHSS (National Institutes of Health Stroke Scale) (r = 0.53), and an inverse correlation with SpO2 (r = 0.61).Conclusion: Obstructive sleep apnea Syndrome is a factor in the prognosis of cerebral infarction as well as cardiovascular diseases such as hypertension. Thus, understanding the risk of stroke in people with sleep apnea is necessary and working with a doctor to diagnose and treat sleep apnea is important.
1 August 2020 in European Heart Journal Supplements
Vietnam in the Asia Pacific region has a high hypertension (HTN) prevalence. The May Measurement Month (MMM) program was enthusiastically responded to in Vietnam by launching and deploying it across the whole country from 2017. The aims of the MMM 2018 program in Vietnam were to screen at least 15 000 people aged 18 and over across the country; to inform participants of the risks associated with HTN; and thereby define the proportion of subjects with elevated blood pressure (BP) and assess the awareness and the effectiveness of its treatment. An opportunistic cross-sectional survey of volunteers aged ≥ 18 was carried out in May 2018. Blood pressure measurement, the definition of HTN, and statistical analysis followed the standard MMM protocol. From May 2018 to June 2018, through 10 cities/provinces in Vietnam, 17 332 individuals with mean age 47.0 ± 17.9 years were screened during MMM18. After multiple imputation, 5260 (30.3%) had HTN. Of individuals not receiving antihypertensive medication, 1956 (13.9%) were hypertensive. Of patients receiving antihypertensive medication, 1540 (46.6%) had uncontrolled BP. Those who had HTN also displayed many additional risk factors similarly to MMM 2017 including smoking, alcohol, overweight-obesity, and diabetes. In conclusion, MMM 2018 campaign is a continuation program of MMM 2017 that has promoted the strength of the BP screening survey in the community in Vietnam, which hopefully will influence on awareness of disease prevention in this century. The next steps of the program will have special innovations on how to reduce the frequency of focusing on variable risk factors to change the overall picture of HTN in Vietnam.
Purpose: Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of the RB1 gene. Early diagnosis and identification of carriers of heritable mutations in RB1 can improve disease outcome and management. In this study, we present the spectrum of mutations in the RB1 gene in Vietnamese patients with RB. Methods: Tumor RNA from 50 probands with RB, including 12 bilateral and 38 unilateral cases, was extracted. cDNA, after reverse transcription, was sequenced to identify the RNA mutation of the RB1 gene. At the genomic DNA level, mutational analysis of all RB1 exons, exon-intron boundaries, and the promoter region was conducted using PCR and direct sequencing. Multiplex ligation-dependent probe amplification (MLPA) analysis was performed for patients for whom the first two results were negative. For patients for whom either the sequencing or MLPA results were positive for a tumor mutation, patients' and their parents' blood DNA was analyzed to determine the germline mutation. Results: Forty-one different kinds of RB1 tumor mutations were identified in 41 probands (82.0%), including 11 of 12 bilateral cases (91.7%) and 30 of 38 unilateral cases (78.9%). The majority of the detected mutations were nonsense (15 different kinds), followed by frameshift (11 kinds), and splice site mutations (nine kinds). Each splice site mutation was confirmed to create a deletion of the corresponding exon with RNA sequencing. The single promoter mutation c.-197G>A was reported previously; however, both missense mutations identified in exon 6 (c.601G>C: p.A201P) and exon 22 (c.2264T>C: p.F755S) were novel. Gross deletions were detected with MLPA in three probands. The detection rate of germline mutations in bilateral and unilateral cases with mutations were 81.8% and 30.0%, respectively. Only one father out of the 20 parents tested was positive for a germline mutation. Conclusions: Mutations in the RB1 gene in Vietnamese patients were heterogeneous and highly prevalent with pathogenic truncated mutations. With advancement in therapeutics, early detection of RB is important for eye salvation.
Background and Aims: Metabolic‐associated fatty liver disease (MAFLD) emerged as a novel term replacing nonalcoholic fatty liver disease (NAFLD) in 2020. While most MAFLD patients are asymptomatic, long‐term hepatic fat accumulation may lead to liver fibrosis and cardiovascular disease (CVD). Nevertheless, the relationship between MAFLD and cardiovascular (CV) risk factors remains unclear. This study aimed to assess the 10‐year estimated CVD risk in individuals diagnosed with MAFLD.Methods: Between January 2022 and August 2023, this cross‐sectional study enrolled 139 MAFLD patients. We employed the systematic coronary risk evaluation 2 (SCORE2) and the systematic coronary risk evaluation 2–older persons (SCORE2‐OP) scoring systems to evaluate and categorize the 10‐year CV risk. Liver fibrosis was assessed using biochemical parameters (FIB‐4, AST/ALT, and APRI), and their correlation with CV risk was examined.Results: Most MAFLD patients were categorized as having high or very high CV risk based on the SCORE2 and SCORE2‐OP. Liver fibrosis, measured by the FIB‐4 score, significantly differed among the various CV risk groups. Moreover, FIB‐4 correlated positively with SCORE2 and SCORE2‐OP (r = 0.588, p < 0.001), indicating its substantial predictive ability for identifying individuals at very high CV risk (AUC = 0.765, 95% CI: 0.686–0.845, p < 0.001). A FIB‐4 score of 1.275 demonstrated 81% sensitivity and 64% specificity in predicting very high CV risk among MAFLD patients.Conclusion: Patients with MAFLD predominantly face high or very high CV risks, with elevated liver fibrosis associated with increased 10‐year estimated CVD risk. The FIB‐4 score exhibits promising predictive value for identifying MAFLD patients at very high risk of CV disease.