Search

Objectives To investigate whether the lactate dehydrogenase D (LDHD) gene deficiency causes juvenile-onset gout. Methods We used whole-exome sequencing for two families and a targeted gene-sequencing panel for an isolated patient. d-lactate dosages were analysed using ELISA. Results We demonstrated linkage of juvenile-onset gout to homozygous carriage of three rare distinct LDHD variants in three different ethnicities. In a Melanesian family, the variant was (NM_153486.3: c.206C>T; rs1035398551) and, as compared with non-homozygotes, homozygotes had higher hyperuricaemia (P = 0.02), lower fractional clearance of urate (P = 0.002), and higher levels of d-lactate in blood (P = 0.04) and urine (P = 0.06). In a second, Vietnamese, family, very severe juvenile-onset gout was linked to homozygote carriage of an undescribed LDHD variant (NM_153486.3: c.1363dupG) leading to a frameshift followed by a stop codon, p.(AlaGly432fsTer58). Finally, a Moroccan man, with early-onset and high d-lactaturia, whose family was unavailable for testing, was homozygous for another rare LDHD variant [NM_153486.3: c.752C>T, p.(Thr251Met)]. Conclusion Rare, damaging LDHD variants can cause autosomal recessive early-onset gout, the diagnosis of which can be suspected by measuring high d-lactate levels in the blood and/or urine.

Steven Truong,1,* Nam Quang Tran,2,3,* Phat Tung Ma,2,3 Chi Khanh Hoang,3 Bao Hoang Le,3 Thang Dinh,3 Luong Tran,3 Thang Viet Tran,2,3 Linh Hoang Gia Le,4 Hoang Anh Vu,4 Thao Phuong Mai,5 Minh Duc Do4 1Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA; 2Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam; 3Department of Endocrinology, University Medical Center, Ho Chi Minh City, Vietnam; 4Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam; 5Department of Physiology-Pathophysiology-Immunology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam*These authors contributed equally to this workCorrespondence: Minh Duc DoCenter for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, 217 Hong Bang, District 5, Ho Chi Minh City, 700000, Vietnam, Tel +84 932999989, Email ducminh@ump.edu.vnPurpose: Genetic factors play an important role in the development of type 2 diabetes mellitus (T2DM) and metabolic syndrome (MetS). However, few genetic association studies related to these disorders have been performed with Vietnamese subjects. In this study, the potential associations of ADIPOQ single nucleotide polymorphisms (SNPs) with T2DM and MetS in a Kinh Vietnamese population were investigated.Patients and Methods: A study with 768 subjects was conducted to examine the associations of four ADIPOQ SNPs (rs266729, rs1501299, rs3774261, and rs822393) primarily with T2DM and secondarily with MetS. The TaqMan SNP genotyping assay was used to determine genotypes from subjects’ DNA samples.Results: After statistical adjustment for age, sex, and body mass index, the ADIPOQ SNP rs266729 was found to be associated with increased risk of T2DM under multiple inheritance models: codominant (OR = 2.30, 95% CI = 1.16– 4.58), recessive (OR = 2.17, 95% CI = 1.11– 4.26), and log-additive (OR = 1.32, 95% CI = 1.02– 1.70). However, rs1501299, rs3774261, and rs822393 were not associated with risk for T2DM. Additionally, rs266729, rs3774261, and rs822393 were statistically associated with MetS, while rs1501299 was not. Haplotype analysis showed a strong linkage disequilibrium between the SNP pairs rs266729/rs822393 and rs1501299/rs3774261, and the haplotype rs266729(G)/rs822393(T) was not statistically associated with MetS.Conclusion: The results show that rs266729 is a lead candidate SNP associated with increased risk of developing T2DM and MetS in a Kinh Vietnamese population, while rs3774261 is associated with MetS only. Further functional characterization is needed to uncover the mechanism underlying the potential genotype–phenotype associations.Keywords: genetic association, Kinh Vietnamese, metabolic syndrome, type 2 diabetes mellitus

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.

International audience; We have previously shown that ultrasonography can detect hyperechogenic crystal deposits in the kidney medulla of patients with gout. In this cross-sectional study we investigated the frequency and clinical correlates of hyperechogenic kidney medulla in 502 consecutive primary consultants for gout (ACR/EULAR criteria) at the Vien Gut medical center in Ho Chi Minh City, Vietnam. None of these patients received urate-lowering drugs. Kidney medulla echogenicity on B-mode ultrasonography was compared to that of the kidney cortex. Overall, 36% patients showed a hyperechoic pattern of Malpighi pyramids. On univariate analysis, the pattern was significantly associated with age, estimated gout duration, steroid-dependency, clinical tophi, urate arthropathy, double contour thickness at the scanned joints, coronary heart disease, arterial hypertension, hyperuricemia, proteinuria, leukocyturia, and decreased estimated glomerular filtration rate. On multivariable analysis, the hyperechoic pattern was associated with estimated disease duration, clinical tophi, urate arthropathy, double contour thickness and decreased estimated glomerular filtration rate. No hyperechoic pattern was observed in 515 consecutive consultants without gout. Thus, hyperechoic kidney medulla was frequently demonstrated in Vietnamese patients with tophaceous gout and associated with features of tubulointerstitial nephritis. This finding revives the hypothesis of microcrystalline nephropathy of gout, predominantly seen in untreated gouty patients, which could be an important target for urate-lowering therapy.

Genetic factors play an important role in the development of type 2 diabetes mellitus (T2DM) and metabolic syndrome (MetS). However, few genetic association studies related to these disorders have been performed with Vietnamese subjects. In this study, the potential associations ofA study with 768 subjects was conducted to examine the associations of fourAfter statistical adjustment for age, sex, and body mass index, theThe results show that rs266729 is a lead candidate SNP associated with increased risk of developing T2DM and MetS in a Kinh Vietnamese population, while rs3774261 is associated with MetS only. Further functional characterization is needed to uncover the mechanism underlying the potential genotype-phenotype associations.

Truong S,Tran NQ,Ma PT, et al. Diabetes Metab Syndr Obes. 2022;15:307–319. The authors have advised that the funding statement on page 316 is incorrect. The text “This work was supported by the MIT UROP Program’s Peter J. Eloranta Research Fellowship and the National Foundation for Science & Technology Development (NAFOSTED), grant number 108.01-2019.319. We thank Christine Mendonca and the Joslin Diabetes Center DRC Core for their assistance in genotyping samples” should read “This research is funded by Vietnam National Foundation for Science and Technology Development (NAFOSTED) under grant number 108.01-2019.319 and the MIT UROP Program’s Peter J. Eloranta Research Fellowship. We thank Christine Mendonca and the Joslin Diabetes Center DRC Core for their assistance in genotyping samples”. Read the original article

Objective The aim of this study was to investigate risk factors for cutaneous adverse reactions (CARs) in Kinh Vietnamese. Methods All patients were prospectively recruited in Ho Chi Minh City. Presence of the HLA-B*58:01 allele was determined by real-time PCR-sequence-specific amplification by using the PG5801 Detection Kit (Pharmigene, Taipei). Patients with severe (SCARs) and mild (MCARs) CARs and controls were compared for differences in features prospectively collected, and odds ratios (ORs) with 95% confidence intervals (CIs) were estimated. Results On comparing 32 patients with SCARs and 395 tolerant controls, we identified eight strong risk factors: increased age (OR 15.1 [95% CI 5.8–40.1], P P P 150 mg (OR 316 [101–122], P P 2 (OR 100 [32–353], P P = 0.004), and HLA-B*58:01 carriage (OR 147 [45–746], P n = 74), risk factors were eGFR 2 (OR 4.9 [1.61–14.6], P = 0.006), history of allopurinol-induced skin reaction (OR 27 [2–3777], P = 0.01), and asymptomatic hyperuricemia (OR 27 [2–3777], P = 0.01). Conclusion This study confirmed 8 risk factors, including HLA-B*58:01, for SCARs and identified 3 risk factors for MCARs in Kinh Vietnamese. HLA-B*58:01 genotyping could guide the indication for allopurinol in Kinh Vietnamese patients with gout.

Development of landslide predictive models with strong prediction power has become a major focus of many researchers. This study describes the first application of the Hyperpipes (HP) algorithm for the development of the five novel ensemble models that combine the HP algorithm and the AdaBoost (AB), Bagging (B), Dagging, Decorate, and Real AdaBoost (RAB) ensemble techniques for mapping the spatial variability of landslide susceptibility in the Nam Dan commune, Ha Giang province, Vietnam. Information on 76 historical landslides and ten geo-environmental factors (slope degree, slope aspect, elevation, topographic wetness index, curvature, weathering crust, geology, river density, fault density, and distance from roads) were used for the construction of the training and validation datasets that are the prerequisites for building and testing the proposed models. Using different performance metrics (i.e., the area under the receiver operating characteristic curve (AUC), negative predictive value, positive predictive value, accuracy, sensitivity, specificity, root mean square error, and Kappa), we verified the proficiency of all five ensemble learning techniques in increasing the fitness and predictive powers of the base HP model. Based on the AUC values derived from the models, the ensemble ABHP model that yielded an AUC value of 0.922 was identified as the most efficient model for mapping the landslide susceptibility in the Nam Dan commune, followed by RABHP (AUC = 0.919), BHP (AUC = 0.909), Dagging-HP (AUC = 0.897), Decorate-HP (AUC = 0.865), and the single HP model (AUC = 0.856), respectively. The novel ensemble models proposed for the Nam Dan commune and the resultant susceptibility maps can aid land-use planners in the development of efficient mitigation strategies in response to destructive landslides. Validerad;2020;Nivå 2;2020-06-15 (alebob)

Pemphigus is a rare, devastating, bullous autoimmune disease that damages the skin and mucous membranes, and has high morbidity and mortality. Studies have shown associations of pemphigus vulgaris (PV) and pemphigus foliaceus (PF) with human leukocyte antigen (HLA) class II polymorphisms.This study examined the frequency of Major Histocompatibility Complex, Class II, DR Beta 1, a Protein Coding gene (HLA-DRB1) and Major Histocompatibility Complex, Class II, DQ Beta 1 (HLA-DQB1) alleles in Vietnamese PV and PF patients, and the association of these polymorphisms with pemphigus subtypes and disease severity.The study enrolled 31 unrelated Vietnamese who underwent HLA typing using Sanger sequencing.HLA-DRB1∗14:54 was the most frequent allele in both PV (20.5%) and PF (33.3%) patients. The percentage of HLA-DQB1∗03:02 was significantly higher in PF than PV patients, while the percentage of HLA-DQB1∗05:03 was approximately 10 times higher in PV patients. Pemphigus patients who have the HLA-DRB1∗04 alleles are more likely to have mild or moderate disease.The HLA-DRB1 and DQB1 alleles may influence susceptibility to pemphigus subtypes, with DQB1∗05:03 being specific for PV and DQB1∗03:02 for PF. Our findings suggest that the DRB1∗04 alleles are likely to be associated with mild and moderate disease.

Background Allopurinol (ALLO) exposes to mild (M) and severe (S) cutaneous adverse reactions (CARs). SCARS have been associated with HLA*B58 01 with various strength of across ethnicities. Little is known about ALLO tolerance in Vietnam (VN). Objectives The aim of this ongoing prospective study was to investigate risk factors, including HLA*B-58 01, for MCARs and SCARs in the predominant Kinh ethnicity of VN Methods All included patients were Kinh Vietnamese. SCARs were recruited at Ho Chi Minh City hospitals, MCARs from the same departments and from the Vien Gut clinic at HCMC (specialised in gout care), and tolerant gouty patients (no skin reaction after at least 3 months from the last increment in ALLO dose) at the Vien Gut clinic. Clinical data were prospectively collected and HLA*B-58 01 typing used the PG5801 DNA detection kit (Pharmigene-Taiwan). Fisher exact test for categorical variables and Kruskal/Wilkonson test for quantitative variables were used for statistics. Results 10 patients experienced a non-fatal SCAR. Toxic necrotic epidermolysis, Stevens-Johnson syndrome and mixed syndrome were diagnosed in 1, 8 and 1 patients respectively. 54 patients stopped ALLO because of MCAR.112 ALLO tolerant patients were recruited. Table 1 shows the main features of interest in the 3 groups. The Odds ratio of HLA*B-58 01 positive patients to develop SCARs was calculated at 171.2 (95% CI: 20; 7889) Conclusions HLA*B-58 01 was significantly associated with SCARs to ALLO in the VN Kinh population. Other known factors but not high ALLO dose were also associated. The only association with MCARs was lack of ALLO titration. Acknowledgements ART Viggo Disclosure of Interest None declared

The literature contains limited information on variations in the factors of safety (FOS) of riverbank stability associated with river water level (RWL) fluctuations. This paper analyses a case study on the portion of the Red River flowing through Hanoi using the finite element method and extending the mechanics of saturated and unsaturated soils to understand how the riverbank’s FOS varies with RWL fluctuations. The results show that hydrostatic force is one of the key parameters influencing the FOS when the soil’s hydraulic conductivity is less than 10 −6 m/s. However, the pore-water pressure and rate of RWL change are the key parameters influencing the FOS when the hydraulic conductivity is greater than 10 −6 m/s. The study also indicates that a surcharge of 50 kPa or higher significantly weakens the riverbank stability and influences the FOS when the RWL rises. The construction of residential or other structures without taking special protection measures within 50 m of the lateral riverbank should be avoided for safety reasons.

Landslides, as one of the major natural hazards, account each year for enormous property damage in terms of both direct and indirect costs. Mountain roads where probability of land sliding is the highest, causes hurdles not only in the traffic flow but generate various traffic problems in the form of congestion, high accidents rate and waste of time. This paper introduces an agent-based model for modeling and simulation of the effects of landslide on the circulation of transports on mountain roads. This model is applied to the National Road N°6 of Vietnam to visualize and analyze the effects of landslide on the road when it occurs. This model could help us to improve and optimally organize of landslide warning and rescue system on the road.