Accurate profiling of population‐specific recessive diseases is essential for the design of cost‐effective carrier screening programs. However, minority populations and ethnic groups, including ...Vietnamese, are still underrepresented in existing genetic studies. Here, we reported the first comprehensive study of recessive diseases in the Vietnamese population. Clinical exome sequencing data of 4503 disease‐associated genes obtained from a cohort of 985 Vietnamese individuals was analyzed to identify pathogenic variants, associated diseases and their carrier frequencies in the population. A total of 118 recessive diseases associated with 164 pathogenic or likely pathogenic variants were identified, among which 28 diseases had carrier frequencies of at least 1% (1 in 100 individuals). Three diseases were prevalent in the Vietnamese population with carrier frequencies of 2–12 times higher than in the world populations, including beta‐thalassemia (1 in 23), citrin deficiency (1 in 31), and phenylketonuria (1 in 40). Seven novel pathogenic and two likely pathogenic variants associated with nine recessive diseases were discovered. The comprehensive profile of recessive diseases identified in this study enables the design of cost‐effective carrier screening programs specific to the Vietnamese population.
Prevalent recessive diseases in Vietnam.
Abstract
Background
Pregnancy has major effects that make hematology parameters outside of normal reference ranges. Therefore, we conducted this study to establish reference intervals for Vietnamese ...pregnant women.
Methods
From June 2023 to Augst 2023, blood samples from 879 eligible pregnant women were run on DxH 900 hematology analyzer and ACL TOP 550 coagulation analyzer. The tested parameters are prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), white blood cell (WBC) and its differentials (neutrophils, lymphocytes, monocytes, eosinophils and basophils), red blood cell (RBC), hemoglobin (HGB), hematocrit (HCT), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), RBC distribution width (RDW), RBC distribution width standard deviation (RDW-SD), platelet count (PLT), mean platelet volume (MPV). A non-parametric method was used to establish the 2.5
th
and 97.5
th
percentile reference intervals.
Results
PT, APTT decrease but fibrinogen increases during pregnancy. Physiological adaptations of pregnancy result in a decrease in RBC count, but an increase in WBC count and no changes in platelet count. The reference intervals for PT (seconds), APTT (seconds), fibrinogen (mg/dL), in the first trimester were 10.30–12.88, 25.40–35.46, 280.28–559.00, in the second trimester were 9.80–11.66, 24.05–33.23, 347.75–593.35, in the third trimester were 9.60–11.40, 23.40–31.80, 330.28–628.56, respectively. The reference intervals for main hematology parameters which are WBC (× 10
9
/L), RBC (× 10
12
/L), HGB (g/dL), HCT (%), PLT (× 10
9
/L) in the first trimester were 6.33–15.24, 3.73–5.32, 10.33–13.95, 32.22–42.29, 169.66–413.88, in the second trimester were 6.99–15.55, 3.33–4.98, 9.71–13.17, 30.26–40.07, 172.34–372.19, in the third trimester were 6.22–14.14, 3.54–4.98, 9.80–13.97, 31.11–42.70, 151.30–417.14, respectively.
Conclusions
Most established referenced intervals from each trimester differ from other trimesters. These trimester-specific reference ranges for Vietnamese pregnant women will aid clinicians in entepreting parameters and help other laboratories adopt these ranges after validating.
Trial registration
This study is registered at
www.clinicaltrials.gov
as NCT05929326.
Mesopores and silanol nests are known two technological keys that essentially control the catalytic performance of ZSM-5 zeolite. However, designing and controlling them without using chemicals so ...that the produced ZSM-5 can have strongly enhanced catalytic properties and more importantly can be applied at industrial scale have still been a big challenge up to now. The present study employed the 10 MeV electron beam (EB) generated from an industrial linear accelerator to introduce both the O-vacancy rich mesopores and stable triad-silanol nests in ZSM-5. The structural modification of irradiated ZSM-5 samples was explored by using SEM and FTIR combined with positron annihilation spectroscopy (PAS) including positron annihilation lifetime (PAL), Doppler broadening (DB) of electron–positron annihilation energy and electron momentum distribution (EMD). Obtained results indicated that EB irradiation could recover the defective-crystal structure as well as intensively modify the structures of ZSM-5. In particular, the mechanism for the solid-state crystallization and the formation of the O-vacancy rich mesopores (maximum size of ∼4.5 nm) in ZSM-5 under the combined EB irradiation (10−110 kGy) and calcination (600 °C) was, for the first time, proposed. The mechanism for the formation of stable triad-silanol nests in the channels of irradiated and calcined ZSM-5 zeolites was also explored. The present study, therefore, opens a new research path of applying both EB irradiation and calcination to produce ZSM-5 with novel features for industrial catalytic application at large-production scale.
Zeolitic aluminophosphate, a three-dimensional microporous material, with an average pore size of 0.38 nm is good candidate for molecular sieve application in CO
gas separation. The separation of CO
.../CH
gas mixtures for precombustion processes is desirable from the standpoint of both environmental concerns and energy efficiency. This study concerns an environmentally friendly method to synthesize zeolitic aluminophosphate thin films on various configurations and low-cost kaolin porous substrates with high performance in the separation of CO
/CH
mixtures. The membranes are prepared by a gelless seed growth method that uses lower amounts of chemicals, forms no liquid gel, chemical waste, or byproducts and generates no washing water. The obtained membranes show very high selectivity for CO
with a CO
/CH
separation factor above 1000 in the separation of CO
/CH
gas mixtures.
Vietnamese Cordyceps militaris (C. militaris) has long been recognized as one of the most valuable traditional Chinese medicines. In this study, adenosine was extracted from Vietnamese C. militaris ...by ultrasound-assisted enzymatic extraction method (UAEE) using water as a solvent. Then, the effects of five single factors on adenosine content including pH, enzyme-to-material ratio, ultrasonic power, ultrasonic time, and ultrasonic temperature were determined. After that, three factors consisting of ultrasonic power, ultrasonic time, and ultrasonic temperature were chosen based on their effects on adenosine content. The simultaneous influence of these factors on the adenosine content was investigated by response surface method using central composite design. The adenosine content was evaluated by high-performance liquid chromatography method. Under the optimal conditions, the extract was evaluated for antioxidant and anticancer bioactivities. In addition, different extraction methods including aqueous extraction (AE), ultrasound-assisted extraction (UAE), and enzyme-assisted extraction (EAE) methods were carried out to compare with UAEE. As a result, it can be concluded that UAEE is a promising method for adenosine extraction and further studies regarding isolation and purification need to be conducted.
We performed a case-control investigation to identify risk factors for norovirus infections among children in Vietnam. Of samples from 1,419 children who had diarrhea and 609 who were asymptomatic, ...20.6% and 2.8%, respectively, were norovirus positive. Risk factors included residential crowding and symptomatic contacts, indicating person-to-person transmission of norovirus.
In recent years, smartphones have been integrated into rapid colorimetric sensors for heavy metal ions, but challenges persist in accuracy and efficiency. Our study introduces a novel approach to ...utilize biogenic gold nanoparticle (AuNP) sensors in conjunction with designing a lightbox with a color reference and machine learning for detection of Fe 3+ ions in water. AuNPs were synthesized using the aqueous extract of Eleutherine bulbosa leaf as reductants and stabilizing agents. Physicochemical analyses revealed diverse AuNP shapes and sizes with an average size of 19.8 nm, with a crystalline structure confirmed via SAED and XRD techniques. AuNPs exhibited high sensitivity and selectivity in detection of Fe 3+ ions through UV-vis spectroscopy and smartphones, relying on nanoparticle aggregation. To enhance image quality, we developed a lightbox and implemented a reference color value for standardization, significantly improving performance of machine learning algorithms. Our method achieved approximately 6.7% higher evaluation metrics ( R 2 = 0.8780) compared to non-normalized approaches ( R 2 = 0.8207). This work presented a promising tool for quantitative Fe 3+ ion analysis in water.
We analyzed 1,303 SARS-CoV-2 whole-genome sequences from Vietnam, and found the Alpha and Delta variants were responsible for a large nationwide outbreak of COVID-19 in 2021. The Delta variant was ...confined to the AY.57 lineage and caused >1.7 million infections and >32,000 deaths. Viral transmission was strongly affected by nonpharmaceutical interventions.
Background
Indirect cardiomyocyte damage-related hyperinflammatory response is one of the key mechanisms in COVID-19-induced fulminant myocarditis. In addition to the clinical benefit of using ...cytokines absorption hemofiltration, the effectiveness of instituting veno-arterial extracorporeal membrane oxygenation (VA-ECMO) support for cardiac compromise has been reported. However, current literature enunciates a paucity of available data on the effectiveness of these novel modalities.
Case Presentation
We reported a 9-year-old boy with recurrent COVID-19 infection-causing fulminant myocarditis, who was treated successfully by using novel modalities of
oXiris
®
hemofilter continuous venovenous hemofiltration (CVVH) and VA-ECMO. The patient made a full recovery without any sequelae.
Conclusion
We conclude that the novel highly-absorptive hemofilter CVVH and VA-ECMO may be effective treatment modalities in managing SARS-CoV-2-induced fulminant myocarditis. Our report highlights the need for further well-designed investigations to confirm this extrapolation.
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