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1.
Nanoscale ; 2024 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-38856654

RESUMO

Understanding water splitting in pH-neutral media has important implications for hydrogen production from seawater. Despite their significance, electrochemical water oxidation and reduction in neutral electrolytes still face great challenges. This study focuses on designing efficient electrocatalysts capable of promoting the oxygen evolution reaction (OER) in neutral media by incorporating high-valence elements into transition-metal hydroxides. The as-prepared and optimized two-dimensional Mo-Co(OH)2 nanosheets, which undergo operando transformation into oxyhydroxide active species, demonstrated an overpotential of 550 mV at 10 mA cm-2 with a Tafel slope of 110.1 mV dec-1 in 0.5 M KHCO3. In situ X-ray absorption spectroscopy revealed that the incorporation of high-valence elements facilitates the generation of CoOOH active sites at low potential and enhances electron transfer kinetics by altering the electronic environment of the Co center. This study offers new insights for developing more efficient OER electrocatalysts and provides fresh ideas for seawater utilization through the study of the reaction mechanism of the near-neutral-pH OER.

2.
J Phys Condens Matter ; 36(28)2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38574677

RESUMO

Our study delved into the detailed investigation of Cs2SnBr6double perovskites, focusing on their electrical properties, lattice dynamics, and stability. The direct bandgap for Cs2SnBr6was estimated to be at 2.93 eV. One external translational mode of the Cs+lattice withT2gsymmetry and three internal modes of the octahedral withA1g,Eg, andT2gsymmetries are defined by calculated lattice dynamics, experimental micro-Raman scattering. We show a correlation with first-principles calculations, validating using a band-structured electronic approach to understanding the behavior of charge carriers, and electron-phonon interactions in Cs2SnBr6. We propose that electron-vibration interactions result in self-trapped excitons (STEs) displaying significant Stokes shifts (0.508 eV) and broad-spectrum emission. Understanding the behavior of STEs is fundamental for their optoelectronic applications.

3.
Contemp Clin Trials Commun ; 38: 101261, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38298915

RESUMO

Under traditional circumstances, most clinical trials rely on in-person operations to identify, recruit, and enroll study participants and to complete study-related visits. During unusual circumstances, such as the COVID-19 pandemic, the typical clinical trial model is challenged and forced to explore alternative approaches to implementing study recruitment, participant enrollment, and data collection strategies. One such alternative is a direct-to-participant approach which leverages electronic resources and relevant technological devices (e.g., smart phones) available to researchers and patients. This approach functions under the assumption that a participant has access to a device that connects to the internet such as a smart phone, tablet, or computer. Researchers are then able to transition a typical paper-based, in-person model to an electronic-based, siteless, remote study. This article describes the challenges clinicians and researchers faced when implementing a direct-to-participant study approach during the COVID-19 pandemic. The lessons learned during this study of infant populations could help increase efficiency of future trials, specifically, by lessening the burden on participants and clinicians as well as streamlining the process for enrollment and data collection. While direct-to-adult participant recruitment is not a novel approach, our findings suggest that studies attempting to recruit the infant population may benefit from such a direct-to-participant approach.

4.
Biomimetics (Basel) ; 9(1)2024 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-38248609

RESUMO

Automated guided vehicles (AGVs) are vital for optimizing the transport of material in modern industry. AGVs have been widely used in production, logistics, transportation, and commerce, enhancing productivity, lowering labor costs, improving energy efficiency, and ensuring safety. However, path planning for AGVs in complex and dynamic environments remains challenging due to the computation of obstacle avoidance and efficient transport. This study proposes a novel approach that combines multi-objective particle swarm optimization (MOPSO) and the dynamic-window approach (DWA) to enhance AGV path planning. Optimal AGV trajectories considering energy consumption, travel time, and collision avoidance were used to model the multi-objective functions for dealing with the outcome-feasible optimal solution. Empirical findings and results demonstrate the approach's effectiveness and efficiency, highlighting its potential for improving AGV navigation in real-world scenarios.

5.
Urologia ; 91(1): 42-48, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37916769

RESUMO

OBJECTIVES: The aim of this study is to analyze the compositions of urinary stones and investigate their distributions in different ages, genders, seasons, and clinical features of Northern Vietnamese patients. METHODS: A total of 231 patients with urinary stones from Northern Vietnam were collected and analyzed composition from 1/2021-12/2022. For all patients, age, sex, stone location, stone side, urine pH, and hospitalized date (month) were collected. RESULTS: Kidney stones are more frequently found in men than women with the male: female urinary stones ratio in this study being 1.96:1. The highest stone prevalence appeared between 60 and 69 years old. The most common stone composition was calcium oxalate, followed by calcium phosphate, uric acid, struvite, and cysteine. Mix stones of CaOx and CaP were more prevalent than pure stones. Males submitted more CaOx, CaP, and UA stones, whereas females were susceptible to infectious stones. Stones were more frequently found on the left side of the upper urinary tract (51.9%) than on the right side (27.3%) and lower urinary tract (7.8%). Cultural tendency leads to a smaller number of stones during the Lunar new year (February), and Ghost month (August).


Assuntos
Cálculos Renais , Cálculos Urinários , Sistema Urinário , Urolitíase , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Idoso , Vietnã , Oxalato de Cálcio , Estações do Ano , Cálculos Renais/química
6.
Ann Hepatobiliary Pancreat Surg ; 28(1): 25-33, 2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38151252

RESUMO

Backgrounds/Aims: Parenchymal-sparing anatomical hepatectomy (Ps-AH) based on portal ramification of the right anterior section (RAS) is a new technique to avoid unnecessarily transecting too much liver parenchyma, especially in cases of major anatomical hepatectomy. Methods: We prospectively assessed 26 patients with primary hepatic malignancies having undergone major Ps-AH based on portal ramification of the RAS from August 2018 to August 2022 (48 months). The perioperative indications, clinical data, intra-operative index, pathological postoperative specimens, postoperative complications, and follow-up results were retrospectively evaluated. Results: Among the 26 patients analyzed, there was just one case that had intrahepatic cholangiocarcinoma The preoperative level of α-Fetoprotein was 25.2 ng/mL. All cases (100%) had Child-Pugh A liver function preoperatively. The ventral/dorsal RAS was preserved in 19 and 7 patients, respectively. The mean surgical margin was 6.2 mm. The mean surgical time was 228.5 minutes, while the mean blood loss was 255 mL. In pathology, 5 cases (19.2%) had microvascular invasion, and in the group of HCC patients, 92% of all cases had moderate or poor tumor differentiation. Six cases (23.1%) of postoperative complications were graded over III according to the Clavien-Dindo system, including in three patients resistant ascites or intra-abdominal abscess that required intervention. Conclusions: Parenchymal-sparing anatomical hepatectomy based on portal ramification of the RAS to achieve R0-resection was safe and effective, with favorable short-term outcomes. This technique can be used widely in clinical practice.

7.
Org Biomol Chem ; 21(42): 8494-8499, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37861427

RESUMO

A facile one-pot transformation of benzyl esters into esters, amides, and anhydrides is described. α,α-Dichlorodiphenylmethane and FeCl3 were employed as the chlorinating agent and catalyst respectively to convert benzyl esters into acid chloride intermediates, which directly reacted with alcohols, amines, and carboxylic acids. Various esters, amides, and anhydrides were readily obtained with high yields under mild conditions. This method is promising for the practical synthesis of esters, amides, and anhydrides from benzyl esters.

8.
RSC Adv ; 13(26): 18108-18121, 2023 Jun 09.
Artigo em Inglês | MEDLINE | ID: mdl-37323433

RESUMO

Tetrodotoxin (TTX) has been widely used in pharmacology, food poisoning analysis, therapeutic use, and neurobiology. In the last decades, the isolation and purification of TTX from natural sources (e.g., pufferfish) were mostly based on column chromatography. Recently, functional magnetic nanomaterials have been recognized as promising solid phases for the isolation and purification of bioactive compounds from aqueous matrices due to their effective adsorptive properties. Thus far, no studies have been reported on the utilization of magnetic nanomaterials for the purification of TTX from biological matrices. In this work, an effort has been made to synthesize Fe3O4@SiO2 and Fe3O4@SiO2-NH2 nanocomposites for the adsorption and recovery of TTX derivatives from a crude pufferfish viscera extract. The experimental data showed that Fe3O4@SiO2-NH2 displayed a higher affinity toward TTX derivatives than Fe3O4@SiO2, achieving maximal adsorption yields for 4epi-TTX, TTX, and Anh-TTX of 97.9, 99.6, and 93.8%, respectively, under the optimal conditions of contact time of 50 min, pH of 2, adsorbent dosage of 4 g L-1, initial adsorbate concentration of 1.92 mg L-1 4epi-TTX, 3.36 mg L-1 TTX and 1.44 mg L-1 Anh-TTX and temperature of 40 °C. Interestingly, desorption of 4epi-TTX, TTX, and Anh-TTX from Fe3O4@SiO2-NH2-TTX investigated at 50 °C was recorded to achieve the highest recovery yields of 96.5, 98.2, and 92.7% using 1% AA/ACN for 30 min reaction, respectively. Remarkably, Fe3O4@SiO2-NH2 can be regenerated up to three cycles with adsorptive performance remaining at nearly 90%, demonstrating a promising adsorbent for purifying TTX derivatives from pufferfish viscera extract and a potential replacement for resins used in column chromatography-based techniques.

9.
RSC Adv ; 13(21): 14412-14434, 2023 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-37180001

RESUMO

Sulfur dioxide-containing compounds such as sulfonyl fluorides, sulfonyl esters, and sulfonyl amides are important structural frameworks in many natural products, pharmaceuticals, and organic compounds. Thus, synthesis of these molecules is a very valuable research topic in organic chemistry. Various synthetic methods to introduce SO2 groups into the structure of organic compounds have been developed for the synthesis of biologically and pharmaceutically useful compounds. Recently, visible-light-driven reactions were carried out to create SO2-X (X = F, O, N) bonds, and their effective synthetic approaches were demonstrated. In this review, we summarized recent advances in visible-light-mediated synthetic strategies for generation of SO2-X (X = F, O, N) bonds for various synthetic applications along with proposed reaction mechanisms.

10.
ACS Appl Mater Interfaces ; 15(18): 22662-22671, 2023 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-37096961

RESUMO

In this work, we report for the first time a comprehensive operando investigation of the intricate correlation between dynamic phase evolution and glycerol electrooxidation reaction (GEOR) performance across three primary MnO2 crystallographic phases (α-, ß-, and γ-MnO2). The results showed that all three electrocatalysts exhibited comparable selectivity toward three-carbon products (∼90%), but γ-MnO2 exhibited superior performance, with a low onset potential of ∼1.45 VRHE, the highest current density of ∼1.9 mA cm-2 at 1.85 VRHE, and reasonable stability. Operando Raman spectroscopy revealed the potential-induced surface reconstruction of different MnO2 structures from which a correlation among the applied potential, electrocatalytic activity, and product distribution was identified. The higher the applied potential, the greater conversion from the original structure to δ-MnO2, resulting in lower C-C cleavage and higher 3C product selectivity. This study not only provides a systematic understanding of structure-controlled electrocatalytic activity for high selectivity toward 3C products of MnO2 but also contributes to the development of a non-noble and environmentally friendly catalyst for valorizing glycerol.

11.
Heliyon ; 9(2): e13487, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36816254

RESUMO

Content marketing is becoming an important trend in the tourism industry and is attracting the attention of many stakeholders. Previous studies have sporadically highlighted only some content marketing aspects, but none comprehensively described the topic. To fill this gap, this study adopts a comprehensive approach by combining two bibliometric co-citation and co-keyword analysis methods of 659 articles on content marketing in travel sectors. The co-citation results indicate that tourism content marketing research has been concentrated on the themes of (1) the impact of electronic word of mouth (eWOM) and word of mouth (WOM) on business performance; (2) the role of social media, user-generated content (UGC) and destination image formulation; (3) the impact of eWOM and UGC on the decision-making process; as well as (4) opportunities and challenges. Additionally, based on the co-keyword analysis, hot research topics are explored, including online review implementation; UGC implementation; communication and information search; customer behavior prediction model; the decision-making process; and issues related to user experience, quality, and management. Among these, UGC implementation is the most likely trend that researchers can develop in the future. In addition, the influence of other types of UGC (e.g., user-generated travel videos) is a promising avenue for future research. This study will help researchers understand the role and influence of tourism content marketing. Furthermore, tourism marketers can use content marketing to restore destination image and address last-minute booking issues after the COVID-19 pandemic.

12.
Healthcare (Basel) ; 11(2)2023 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-36673602

RESUMO

Background: Elevated levels of blood total homocysteine is one of the cardiovascular risk factors in hypertensive patients. Objectives: Determine the prevalence of hyperhomocysteinemia and its associated factors in newly diagnosed primary hypertension patients. Materials and methods: A cross-sectional descriptive study on 105 patients with newly diagnosed primary hypertension at Can Tho University of Medicine and Pharmacy Hospital from May 2017 to May 2018. Total homocysteine levels and related factors were collected at the study time. Results: The mean plasma total homocysteine level was 16.24 ± 4.49 µmol/L. There were 78 patients with elevated plasma total homocysteine levels ≥15 µmol/L, accounting for 74.3% of all patients. Being elderly, gender, hypertension stage, and diabetes were factors associated with hyperhomocysteinemia (p < 0.05). Total homocysteine levels were positively correlated with SBP, DBP, and age with r(SBP) = 0.696, r(DBP) = 0.585, and r(age) = 0.286. Conclusion: Research on the subpopulation of Vietnamese people shows that hyperhomocysteinemia is common in patients with newly diagnosed primary hypertension, and high blood total homocysteine levels are often related to age, sex, hypertension stage, and diabetes.

13.
Healthcare (Basel) ; 11(2)2023 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-36673621

RESUMO

Background: Galectin-3 is a biomarker that has been demonstrated to play a significant role in myocardial fibrosis and remodeling in the pathogenesis of heart failure. Furthermore, spironolactone has the ability to control galectin-3 levels in heart failure patients. Objectives: The aim of our study was to determine the factors associated with the increase in galectin-3 and the alteration of galectin-3 concentration in patients with heart failure with a reduced ejection fraction after 12 weeks of treatment with spironolactone. Materials and methods: A cross-sectional descriptive study was conducted on 122 patients with heart failure with a reduced ejection fraction. Those patients were nonusers of spironolactone and presented for examination or had been hospitalized at the Can Tho Cardiovascular Hospital in Vietnam. The demographic and cardiovascular risk factor details were obtained at baseline, and galectin-3 levels were measured at baseline and also 12 weeks after taking spironolactone 25 mg once daily vs. 50 mg once daily. Results: The median baseline galectin-3 was 54.82 ± 26.06. Galectin-3 levels were positively correlated with age, NT-proBNP, and negatively correlated between EF and galectin-3 levels (p < 0.05). After 12 weeks of treatment with spironolactone, the galectin-3 concentration decreased from 54.82 ± 26.06 to 44.20 ± 24.36 (p < 0.05). According to the subgroup analysis, the average concentration of galectin-3 decreased the most in the group of patients with grade 3 hypertension and NYHA class III heart failure. The 50 mg once-daily dose of spironolactone significantly improved galectin-3 concentrations compared with the 25 mg once-daily group, at 17.11 ± 20.81 (p < 0.05) (reduced 29.05%) and 3.46 ± 6.81 ng/mL (p < 0.05) (reduced 6.87%), respectively. Conclusion: Treatment with spironolactone played an essential role in reducing galectin-3 concentrations, especially spironolactone 50 mg once daily, which showed a significant effect on reducing galectin-3 compared with a 25 mg once-daily dose.

14.
Anal Chim Acta ; 1243: 340840, 2023 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-36697182

RESUMO

Herein, we report a novel approach for the design of a colorimetric aptasensor, relying on a Dye Salt Aggregation-based Colorimetric Oligonucleotide assay (DYSACO assay). This method is based on the use of an intercalating agent, Nile Blue (NB), whose aggregation capacities (and thus modification of its absorption spectrum) are drastically amplified by adding salts to the working solution. The presence of an aptamer could protect NB from such aggregation process due to its intercalation into double-stranded DNA and/or interaction with nucleobases. In response to the addition of the specific ligand, the competition between NB and the target for binding to the aptamer occurs, resulting in an increase in the dye salt aggregation and then in the blue-to-blank color change of the solution. The proof-of-principle was demonstrated by employing the anti-l-tyrosinamide aptamer and the assay was successfully applied to the trace enantiomer detection, allowing the detection of an enantiomeric impurity down to approximately 2% in a non-racemic sample. Through a reversed mechanism based on the increased capture of NB by DNA upon analyte binding, the sensing platform was further demonstrated for the Hg(II) detection. Water samples of different origin were spiked with Hg(II) analyte at final range concentrations comprised between (0.5-15 µM). An excellent overall recovery of 122 ± 14%; 105 ± 14%; 99 ± 9%; was respectively obtained from river, tap and mineral water, suggesting that the sensor can be used under real sample conditions. The assay was also shown to work for sensing the ochratoxin A and d-arginine vasopressin compounds, revealing its simplicity and generalizability potentialities.


Assuntos
Aptâmeros de Nucleotídeos , Técnicas Biossensoriais , Mercúrio , Nanopartículas Metálicas , Colorimetria/métodos , Nanopartículas Metálicas/química , Técnicas Biossensoriais/métodos , Ouro/química , Cloreto de Sódio , DNA/química , Peptídeos , Cloreto de Sódio na Dieta , Aptâmeros de Nucleotídeos/química
15.
IEEE Trans Pattern Anal Mach Intell ; 45(3): 3890-3903, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35622794

RESUMO

Robust model fitting is a core algorithm in several computer vision applications. Despite being studied for decades, solving this problem efficiently for datasets that are heavily contaminated by outliers is still challenging: due to the underlying computational complexity. A recent focus has been on learning-based algorithms. However, most of these approaches are supervised (which require a large amount of labelled training data). In this paper, we introduce a novel unsupervised learning framework: that learns to directly (without labelled data) solve robust model fitting. Moreover, unlike other learning-based methods, our work is agnostic to the underlying input features, and can be easily generalized to a wide variety of LP-type problems with quasi-convex residuals. We empirically show that our method outperforms existing (un)supervised learning approaches, and also achieves competitive results compared to traditional (non-learning-based) methods. Our approach is designed to try to maximise consensus (MaxCon), similar to the popular RANSAC. The basis of our approach, is to adopt a Reinforcement Learning framework. This requires designing appropriate reward functions, and state encodings. We provide a family of reward functions, tunable by choice of a parameter. We also investigate the application of different basic and enhanced Q-learning components.

16.
Nano Lett ; 22(24): 10147-10153, 2022 12 28.
Artigo em Inglês | MEDLINE | ID: mdl-36475760

RESUMO

The paper demonstrates the effect of the chemical conformation of the -COOH group on the transport characteristic including conductance, rectification, and length effect in molecular junctions (MJs) formed by self-assembled monolayers of carboxylic-terminated thiol molecules. For an alkyl chain shorter than C11, the transport mechanism was attributed to a direct off-resonant tunneling of a hole carrier, located at the Au-S interface, whereas a hopping mechanism was assigned to the alkyl chain longer than the C11 chain located at the -COOH group. The hopping mechanism may be operated by electron transport associated with the breaking of the -OH bonding likely driven by a voltage. Importantly, at the C11 alkyl chain, we observed that the transport carrier operating in MJs could change from a hole carrier into an electron carrier. The result strongly proves that the chemical conformation should be considered in analyzing molecular electronics and provides a basis for the rational design of molecular electronic devices.


Assuntos
Eletrônica , Compostos de Sulfidrila , Compostos de Sulfidrila/química , Conformação Molecular , Eletrodos
17.
PLoS One ; 17(11): e0276918, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36331910

RESUMO

BACKGROUND: Job satisfaction is one of the main factors creating and bringing about work motivation, productivity, and efficiency as well as decreasing job-hopping and job turnover. No previous studies have been conducted to assess job satisfaction for community pharmacists in Vietnam. OBJECTIVE: This research was conducted to develop and validate an instrument used to measure community pharmacists' job satisfaction in the context of the COVID-19 pandemic in Vietnam. METHODS AND RESULTS: A total of 351 pharmacists participated in this survey. Data were analyzed using R software version 4.2.0. The final instrument (VIJS) has 34 items divided into six factors which were determined via a parallel analysis (including physical working conditions, work nature, income and other benefits, management policies and managers, relationships with coworkers and customers, and learning and advancement opportunities). VIJS's internal consistency was excellent (Cronbach's alpha = 0.97, Omega total = 0.98, split-half reliability = 0.985, and composite reliability>0.8). Two-week test-retest reliability results (intraclass correlation coefficient for the overall instrument: 0.97, for six factors: 0.865-0.938) demonstrated the consistency of the VIJS when the same test was repeated on the same sample (62 pharmacists) at different points in time. The Confirmatory Factor Analysis was employed to assess the construct validity. The VIJS was a good fit to a six-factor model (Chisq/df = 2.352, Comparative Fit Index = 0.937, Tucker-Lewis Index = 0.929, Standardized Root Mean Square Residual = 0.042, and Root Mean Square Error of Approximation = 0.062). VIJS's good convergent and discriminant validity was demonstrated via Average Variance Extrated>0.5 and the Heterotrait-Monotrait ratio of correlations<0.85. CONCLUSIONS: The VIJS possesses good reliability and validity and can be used to measure community pharmacists' job satisfaction.


Assuntos
COVID-19 , Satisfação no Emprego , Humanos , Farmacêuticos , Reprodutibilidade dos Testes , COVID-19/epidemiologia , Vietnã/epidemiologia , Pandemias , Inquéritos e Questionários , Psicometria
18.
Pharmaceutics ; 14(11)2022 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-36432736

RESUMO

Translocator protein 18 kDa (TSPO) is a transmembrane protein in the mitochondrial membrane, which has been identified as a peripheral benzodiazepine receptor. TSPO is generally present at high concentrations in steroid-producing cells and plays an important role in steroid synthesis, apoptosis, and cell proliferation. In the central nervous system, TSPO expression is relatively modest under normal physiological circumstances. However, some pathological disorders can lead to changes in TSPO expression. Overexpression of TSPO is associated with several diseases, such as neurodegenerative diseases, neuroinflammation, brain injury, and cancers. TSPO has therefore become an effective biomarker of related diseases. Positron emission tomography (PET), a non-invasive molecular imaging technique used for the clinical diagnosis of numerous diseases, can detect diseases related to TSPO expression. Several radiolabeled TSPO ligands have been developed for PET. In this review, we describe recent advances in the development of TSPO ligands, and 18F-radiolabeled TSPO in particular, as PET tracers. This review covers pharmacokinetic studies, preclinical and clinical trials of 18F-labeled TSPO PET ligands, and the synthesis of TSPO ligands.

19.
RSC Adv ; 12(27): 17499-17504, 2022 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-35765441

RESUMO

Sulfonic ester is a chemical structure common to many organic molecules, including biologically active compounds. Herein, a visible-light-induced synthetic method to prepare aryl sulfonic ester from arylazo sulfones was developed. In the present study, a one-pot reaction was carried out using arylazo sulfones, DABSO (DABCO·(SO2)2), and alcohols in the presence of CuI as a coupling catalyst and HCl as an additive to yield sulfonic esters via multicomponent reaction. This synthetic method afforded a wide range of sulfonic esters with high yields under mild conditions.

20.
Mol Genet Genomic Med ; 10(7): e1959, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35502621

RESUMO

BACKGROUND: Several inherited metabolic diseases are underreported in Vietnam, namely glucose-6-phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pathogenic variants, no screening programme uses MPS to uncover the variant spectra of these diseases in the Vietnamese population. METHODS: Pregnant women (mean age of 32) from across Vietnam attending routine prenatal health checks agreed to participate and had their blood drawn. MPS was used to detect variants in their G6PD, PAH and GALT genes. RESULTS: Of 3259 women screened across Vietnam, 450 (13.8%) carried disease-associated variants for G6PD, PAH and GALT. The prevalence of carriers was 8.9% (291 of 3259) in G6PD and 4.6% (152 of 3259) in PKU, whilst GAL was low at 0.2% (7 of 3259). Two GALT variants, c.593 T > C and c.1034C > A, have rarely been reported. CONCLUSION: This study highlights the need for routine carrier screening, where women give blood whilst receiving routine prenatal care, in Vietnam. The use of MPS is suitable for screening multiple variants, allowing for identifying rare pathogenic variants. The data from our study will inform policymakers in constructing cost-effective genetic metabolic carrier screening programmes.


Assuntos
Galactosemias , Deficiência de Glucosefosfato Desidrogenase , Fenilcetonúrias , Adulto , Povo Asiático , Feminino , Galactosemias/genética , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Fenilcetonúrias/genética , Gravidez , Gestantes , Vietnã/epidemiologia
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