A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients

BackgroundPathogenic variants in the IGHMBP2 gene are associated with two distinct autosomal recessive neuromuscular disorders: spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320) and Charcot–Marie–Tooth type 2S (CMT2S; OMIM #616155). SMARD1 is a severe and fatal condition characterized by infantile-onset respiratory distress, diaphragmatic palsy, and distal muscular weakness, while CMT2S follows a milder clinical course, with slowly progressive distal muscle weakness and sensory loss, without manifestations of respiratory disorder.MethodsWhole-exome sequencing of the IGHMBP2 gene was performed for eight Vietnamese patients with IGHMBP2-related neuromuscular disorders including five patients with SMARD1 and the others with CMT2S.ResultsWe identified one novel IGHMBP2 variant c.1574T > C (p.Leu525Pro) in a SMARD1 patient. Besides that, two patients shared the same pathogenic variants (c.1235 + 3A > G/c.1334A > C) but presented completely different clinical courses: one with SMARD1 who deceased at 8 months of age, the other with CMT2S was alive at 3 years old without any respiratory distress.ConclusionThis study is the first to report IGHMBP-2-related neuromuscular disorders in Vietnam. A novel IGHMBP2 variant c.1574T > C (p.Leu525Pro) expressing SMARD1 phenotype was detected. The presence of three patients with the same genotype but distinct clinical outcomes suggested the interaction of variants and other factors including relating modified genes in the mechanism of various phenotypes

A Multicentre Molecular Analysis of Hepatitis B and Blood-Borne Virus Coinfections in Viet Nam

Hepatitis B (HBV) infection is endemic in Viet Nam, with up to 8.4 million individuals estimated to be chronically infected. We describe results of a large, multicentre seroepidemiological and molecular study of the prevalence of HBV infection and blood-borne viral coinfections in Viet Nam. Individuals with varying risk factors for infection (n = 8654) were recruited from five centres; Ha Noi, Hai Phong, Da Nang, Khanh Hoa and Can Tho. A mean prevalence rate of 10.7% was observed and levels of HBsAg were significantly higher in injecting drug users (IDUs) (17.4%, n = 174/1000) and dialysis patients (14.3%, n = 82/575) than in lower-risk groups (9.4%; p<0.001). Coinfection with HIV was seen in 28% of HBV-infected IDUs (n = 49/174) and 15.2% of commercial sex workers (CSWs; n = 15/99). HCV infection was present in 89.8% of the HBV-HIV coinfected IDUs (n = 44/49) and 40% of HBV-HIV coinfected CSWs (n = 16/40). Anti-HDV was detected in 10.7% (n = 34/318) of HBsAg positive individuals. Phylogenetic analysis of HBV S gene (n = 187) showed a predominance of genotype B4 (82.6%); genotypes C1 (14.6%), B2 (2.7%) and C5 (0.5%) were also identified. The precore mutation G1896A was identified in 35% of all specimens, and was more frequently observed in genotype B (41%) than genotype C (3%; p<0.0001). In the immunodominant ‘a’ region of the surface gene, point mutations were identified in 31% (n = 58/187) of sequences, and 2.2% (n = 4/187) and 5.3% (n = 10/187) specimens contained the major vaccine escape mutations G145A/R and P120L/Q/S/T, respectively. 368 HBsAg positive individuals were genotyped for the IL28B SNP rs12979860 and no significant association between the IL28B SNP and clearance of HBsAg, HBV viral load or HBeAg was observed. This study confirms the high prevalence of HBV infection in Viet Nam and also highlights the significant levels of blood-borne virus coinfections, which have important implications for hepatitis-related morbidity and development of effective management strategies

Combination of a Green and a Traditional Method for Estimating Relative and Absolute Ink Age: A Case Study of Ballpoint Pen Ink Dating in Vietnam

The dating of ink in questioned documents remains a significant challenge in forensic investigations in Vietnam and other countries. Many forensic examination methods have been usually applied to ensure the highest accuracy of the assessment results while maintaining high environment awareness. In this study, paper characteristics were physically tested to confirm source similarity, and the relative ink dating was established by high-performance thin-layer chromatography (HPTLC). Absolute ink dating by solvent and dye identification was performed by Raman spectrometry—a green technique, using a time-dependent degradation model for crystal violet and the comparison between 2-phenoxyethanol peak intensities. We found that the relative dating of the questioned document was 14 ± 3 months lesser than that of the reference samples, i.e., the absolute age of the questioned samples was estimated to be 24 ± 3 months. The combination of the conventional HPTLC method with the dynamic crystal violet degradation Raman model provides promising results for relative and absolute ink dating of ballpoint pens, which can be applied for documents written 1–15 years prior to the time of examination. The combination of the abovementioned methods demonstrated an acceptable error margin, affording highly practical applications in modern forensic science

Factors Determining the Removal Efficiency of Procion MX in Waters Using Titanate Nanotubes Catalyzed by UV Irradiation

The treatment of wastewater from the textile industry containing organic dyes faces many challenges since these compounds resist the biodegradation process in conventional treatment units. Among the physicochemical processes, photocatalysis is considered a facile, cheap, and environmental-friendly technology for treating persistent organic pollutants in waters at low concentrations. This study investigated several physicochemical factors determining the photocatalytic activity of titanate nanotubes (TNTs) to remove Procion MX 032 (PMX), an azo dye, in waters. Degradation of PMX by photocatalytic oxidation process at room temperature (30°C) was set up with the UV irradiation in the presence of different types of photocatalyst such as ST-01 (100% anatase), industrial TiO2, TNTs calcined at 120°C and 500°C. Effect of reaction time, catalyst amount, pH, light wavelength and intensity, and oxidants was investigated. Consequently, TNTs calcined at 500°C provided the highest removal efficiency. The photocatalytic oxidation of PMX by TNT calcined at 500°C was affected by pH variation, getting the highest removal at pH of 8, and inhibited with the presence of H2O2 and O2. Particularly, the PMX degradation using titanate nanotubes was optimized under the UV-A intensity of 100 W/m2. The dye was degraded by more than 95% at the TNTs concentration of 75 mg/L and pH 8.0 after 90 min. The results suggest that photocatalysis using TNTs can be a simple but efficient treatment method to remove PMX and potentially be applied for the treatment of wastewaters containing dyes

Sulfur and lead isotope geochemical characteristics of Pb-Zn deposits in the Khau Loc zone, northeastern Vietnam, and their significance

In northeastern Vietnam, the Khau Loc zone is considered to have high potential for lead-zinc mineralization. The lead isotope data for 18 galena samples and 18 ones of δ34S isotope data (including galena and pyrite samples) were collected from lead-zinc ore deposits in some areas in the Khau Loc zone, including Phia Dam, Khuoi Man, Ban Lin, Lung Dam, and Ta Pan. These were employed to investigate the sulfur and lead isotope geochemical characteristics of Pb-Zn deposits and their significance in this study. The samples were analyzed using the LA-ICP-MS to show that the Pb isotopic ratios of 206Pb/204Pb, 207Pb/204Pb, and 208Pb/204Pb in the galena samples range from 17.8908 to 18.6012, 15.5794 to 16.1025, 38.4420 to 39.2118, with the average values of 18.296, 15.749, and 38.812, respectively. The pyrite and galena samples had the δ34S isotope, ranging from 9.0 to 15.106. The sulfur isotope systematics implies that most of the lead-zinc ore formations originated from marine sedimentary evaporation deposits and magmatic intrusion-volcanic eruption sources rich in silica. The distribution of lead isotopic ratios had a well-defined cluster for each deposit, indicating the formation of lead-zinc deposits and lower crust and orogen trends. In addition, these findings of lead isotopic ratios and δ 34S isotopes proved that the Khau Loc zone is an activated structure with continuous growth in continental crust thickness during the early Proterozoic and Cenozoic periods. Furthermore, the study results also presented the evolution of material sources involved in the formation of lead-zinc ores in the Khau Loc zone

Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.

Hypovolemic shock (dengue shock syndrome (DSS)) is the most common life-threatening complication of dengue. We conducted a genome-wide association study of 2,008 pediatric cases treated for DSS and 2,018 controls from Vietnam. Replication of the most significantly associated markers was carried out in an independent Vietnamese sample of 1,737 cases and 2,934 controls. SNPs at two loci showed genome-wide significant association with DSS. We identified a susceptibility locus at MICB (major histocompatibility complex (MHC) class I polypeptide-related sequence B), which was within the broad MHC region on chromosome 6 but outside the class I and class II HLA loci (rs3132468, P(meta) = 4.41 × 10(-11), per-allele odds ratio (OR) = 1.34 (95% confidence interval: 1.23-1.46)). We identified associated variants within PLCE1 (phospholipase C, epsilon 1) on chromosome 10 (rs3765524, P(meta) = 3.08 × 10(-10), per-allele OR = 0.80 (95% confidence interval: 0.75-0.86)). We identify two loci associated with susceptibility to DSS in people with dengue, suggesting possible mechanisms for this severe complication of dengue