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1.
ACS Omega ; 9(18): 20467-20476, 2024 May 07.
Article in English | MEDLINE | ID: mdl-38737022

ABSTRACT

Molecular and dissociative hydrogen adsorption of transition metal (TM)-doped [Mo3S13]2- atomic clusters were investigated using density functional theory calculations. The introduced TM dopants form stable bonds with S atoms, preserving the geometric structure. The S-TM-S bridging bond emerges as the most stable configuration. The preferred adsorption sites were found to be influenced by various factors, such as the relative electronegativity, coordination number, and charge of the TM atom. Notably, the presence of these TM atoms remarkably improved the hydrogen adsorption activity. The dissociation of a single hydrogen molecule on TM[Mo3S13]2- clusters (TM = Sc, Cr, Mn, Fe, Co, and Ni) is thermodynamically and kinetically favorable compared to their bare counterparts. The extent of favorability monotonically depends on the TM impurity, with a maximum activation barrier energy ranging from 0.62 to 1.58 eV, lower than that of the bare cluster (1.69 eV). Findings provide insights for experimental research on hydrogen adsorption using TM-doped molybdenum sulfide nanoclusters, with potential applications in the field of hydrogen energy.

2.
Chem Biodivers ; : e202400053, 2024 Apr 22.
Article in English | MEDLINE | ID: mdl-38646830

ABSTRACT

Three new oleanane-type triterpene saponins, named camphanosides A-C (1-3), along with five known compounds, chikusetsusaponin IVa (4), spinasaponin A 28-O-glucoside (5), (-)-epicatechin (6), (-)-epicatechin 3-O-gallate (7), and (-)-epigallocatechin 3-O-gallate (8) were isolated from the leaves Camellia phanii Hakoda & Ninh. Their structures were established by 1D and 2D-NMR and mass spectral analysis and chemical methods. Moreover, compounds 1-5 were also evaluated for α-glucosidase inhibitory activity. Compounds 1-3 exhibited moderate α-glucosidase inhibitory activity with IC50 values of 230.7±18.0, 251.4±22.7, and 421.4±25.6 µM, respectively.

3.
Haemophilia ; 30(3): 609-616, 2024 May.
Article in English | MEDLINE | ID: mdl-38523289

ABSTRACT

BACKGROUND: The healthcare systems in Asia vary greatly due to the socio-economic and cultural diversities which impact haemophilia management. METHODS: An advisory board meeting was conducted with experts in haemophilia care from Asia to understand the heterogeneity in clinical practices and care provision in the region. FINDINGS: The overall prevalence of haemophilia in Asia ranges between 3 and 8.58/100,000 patients. Haemophilia A was more prevalent as compared to haemophilia B with a ratio of around 5:1. There is under-diagnosis in the region due to lack of diagnosis, registries and/or lack of appropriate facilities in suburban areas. Most patients are referred to the haematologists by their families or primary care physicians, while some are identified during bleeding episodes. Genetic testing faces obstacles like resource constraints, services available at limited centres and unwillingness of patients to participate. Prophylaxis is offered for people with haemophilia (PWH) with a severe bleeding phenotype. Recombinant factors are approved in most countries across the region and are the preferred therapy. The challenges highlighted for not receiving a high standard of care include patients' reluctance to use an intravenous treatment, poor patient compliance due to frequency of infusions, budget constraints and lack of funding, insurance, availability and accessibility of factor concentrates. Prevalence of neutralizing antibodies ranged from 5% to 20% in the region. Use of immune tolerance induction and bypassing agents to treat inhibitors depends on their cost and availability. CONCLUSION: Haemophilia care in Asia has evolved to a great extent. However, some challenges remain for which a strategic approach along with multi-stakeholder involvement are needed.


Subject(s)
Hemophilia A , Humans , Hemophilia A/therapy , Hemophilia A/epidemiology , Asia/epidemiology , Prevalence , Delivery of Health Care , Hemophilia B/therapy , Hemophilia B/epidemiology
4.
Chem Biodivers ; 21(3): e202302105, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38269614

ABSTRACT

Four previously undescribed compounds named phyllancosides A and B (1 and 2), and phyllancochines A and B (3 and 4) together with ten known compounds (5-14) were isolated from the aerial parts of Phyllanthus cochinchinensis Spreng. Their chemical structures were elucidated on the basis of comprehensive analysis of IR, HR-ESI-MS, 1D and 2D NMR spectra. The absolute configurations of 1 and 2 were determined by electronic circular dichroism (ECD) spectra. Compounds 3, 4, and 10 showed antimicrobial activity against E. faecalis, S. aureus, and B. cereus with the MIC values in range of 32-256 µg/mL. Compound 11 inhibited E. faecalis and B. cereus, and 7 inhibited S. aureus with the MIC values in range of 64-128 µg/mL. In addition, compounds 1, 3, 4, 8, and 9 showed significantly NO production inhibitory activity in LPS activated RAW 264.7 cells with IC50 values ranging from 36.57 to 56.34 µM.


Subject(s)
Anti-Infective Agents , Lipopolysaccharides , Animals , Mice , RAW 264.7 Cells , Molecular Structure , Lipopolysaccharides/pharmacology , Staphylococcus aureus , Nitric Oxide , Plant Components, Aerial/chemistry , Anti-Infective Agents/analysis
5.
RSC Adv ; 13(42): 29141-29151, 2023 Oct 04.
Article in English | MEDLINE | ID: mdl-37800131

ABSTRACT

In this study, the aerial parts of mature Vietnamese Euphorbia tithymaloides plants were put through cytotoxic, anti-diabetic, and phytocompositional evaluations. Specifically, four extracts (petroleum ether (PE), ethyl acetate (EA), methanol (Me), and aqueous (W)) were prepared by maceration at room temperature. All extracts, together with some isolated compounds, were investigated for cytotoxicity against some human normal and cancer cell lines (fibroblasts, HeLa, NCI-H460, HepG2, MCF-7, and Jurkat) using the standardized modified sulforhodamine B (SRB) assay. Additionally, the anti-diabetic activity of extracts and compounds was evaluated via their α-glucosidase inhibitory capacity. The obtained results indicated that Vietnamese E. tithymaloides extracts exhibited moderate cytotoxic activity, among which the PE extract possessed the highest values, on the NCI-H460 cell line. Second, the aqueous extract was revealed to possess very high α-glucosidase inhibitory activity (IC50 = 113.75 ± 14.02 µg ml-1). From the PE extract, three new jatrophane diterpenoids (named tithymal A, tithymal B, and tithymal C) and two known ones were isolated and structurally elucidated using NMR and MS spectroscopies. Noticeably, tithymal A exhibited significantly high inhibitory activity against α-glucosidase (IC50 = 10.71 ± 0.52 µg ml-1). These observations have significantly highlighted the medicinal potential of Vietnamese E. tithymaloides and expanded its scientific fascination.

6.
Chem Biodivers ; 20(9): e202300904, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37550247

ABSTRACT

A chemical investigation of K. heteroclite led to isolation of two new dibenzocyclooctadienes (1 and 2) together with 14 known compounds (3-16) by using multiple chromatographic techniques. New compounds (1 and 2) were obtained and identified by spectroscopic methods (HR-ESI-MS, 1D and 2D NMR, and ECD) as well as by comparison of their experimental data with those reported in the literatures. All the isolates were evaluated for their ability to modulate TNF-α production in lipopolysaccharide (LPS) stimulated RAW264.7 cells. Among them, compound 5 displayed the most inhibition against tumor necrosis factor (TNF)-α production with IC50 value of 6.16±0.14 µM. Whereas, compounds (1, 3, and 6) showed the significant inhibition (IC50 values ranging from 9.41 to 14.54 µM), and compounds (2, 4, 9, 10, 13, 15, and 16) exhibited moderate inhibition (IC50 values ranging from 19.27 to 40.64 µM) toward TNF-α production, respectively.


Subject(s)
Kadsura , Lignans , Kadsura/chemistry , Tumor Necrosis Factor-alpha , Lignans/pharmacology , Lignans/chemistry , Anti-Inflammatory Agents/pharmacology , Phenols , Molecular Structure
7.
Nanomaterials (Basel) ; 13(14)2023 Jul 23.
Article in English | MEDLINE | ID: mdl-37513150

ABSTRACT

Developing highly efficient and durable hydrogen evolution reaction (HER) electrocatalysts is crucial for addressing the energy and environmental challenges. Among the 2D-layered chalcogenides, MoSe2 possesses superior features for HER catalysis. The van der Waals attractions and high surface energy, however, stack the MoSe2 layers, resulting in a loss of edge active catalytic sites. In addition, MoSe2 suffers from low intrinsic conductivity and weak electrical contact with active sites. To overcome the issues, this work presents a novel approach, wherein the in situ incorporated diethylene glycol solvent into the interlayers of MoSe2 during synthesis when treated thermally in an inert atmosphere at 600 °C transformed into graphene (Gr). This widened the interlayer spacing of MoSe2, thereby exposing more HER active edge sites with high conductivity offered by the incorporated Gr. The resulting MoSe2-Gr composite exhibited a significantly enhanced HER catalytic activity compared to the pristine MoSe2 in an acidic medium and demonstrated a superior HER catalytic activity compared to the state-of-the-art Pt/C catalyst, particularly at a high current density beyond ca. 55 mA cm-2. Additionally, the MoSe2-Gr catalyst demonstrated long-term electrochemical stability during HER. This work, thus, presents a facile and novel approach for obtaining an efficient MoSe2 electrocatalyst applicable in green hydrogen production.

8.
Chem Biodivers ; 20(8): e202300853, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37409765

ABSTRACT

A chemical study of the methanol extract of the aerial parts of Achyranthes aspera led to the isolation of four new flavonoid C-glycosides (1-4) along with eight known analogs (5-12). Their structures were elucidated by a combination of spectroscopic data analysis, HR-ESI-MS, 1D and 2D NMR spectra. All the isolates were evaluated their NO production inhibitory activity in LPS-activated RAW264.7 cells. Compounds 2, 4, and 8-11 showed significant inhibition with IC50 values ranging from 25.06 to 45.25 µM, compared to that of the positive control compound, L-NMMA, IC50 value of 32.24 µM, whereas the remaining compounds were weak inhibitory activity with IC50 values over 100 µM. This is the first report of 7 from Amaranthaceae family, and 11 from the genus Achyranthes.


Subject(s)
Achyranthes , Flavonoids , Flavonoids/pharmacology , Flavonoids/chemistry , Achyranthes/chemistry , Nitric Oxide , Plant Extracts/pharmacology , Plant Extracts/chemistry , Glycosides/pharmacology , Glycosides/chemistry , Molecular Structure
9.
Nat Prod Res ; : 1-9, 2023 May 26.
Article in English | MEDLINE | ID: mdl-37234021

ABSTRACT

A phytochemical investigation of the methanolic extract of aerial parts of the Acanthus ilicifolius led to the isolation of two new lignan glycosides, acaniliciosides A and B (1 and 2), together with ten known compounds (3-12). The structures of isolated compounds were elucidated based on HR-ESI-MS, 1D and 2D NMR spectroscopic data. The absolute configurations of two new compounds were established by CD spectra. With the exception of compound 12, other compounds inhibited NO production in LPS activated RAW264.7 cells with IC50 values of 2.14-28.18 µM, as potent as that of the positive control of NG-monomethyl-L-arginine acetate (L-NMMA, IC50 of 32.50 µM). In addition, compounds 5-8 showed cytotoxic effects against SK-LU-1 and HepG2 cell lines with the IC50 values ranging from 16.48 to 76.40 µM compared to the positive control (ellipticine) with the IC50 values ranging from 1.23 to 1.46 µM.

10.
RSC Adv ; 13(16): 11171-11181, 2023 Apr 03.
Article in English | MEDLINE | ID: mdl-37056971

ABSTRACT

In this work, a new facile one-spot method has been designed to fabricate a magnetic recyclable Fe3O4/rice husk biochar photocatalyst (FBP) for the removal of Ciprofloxacin (CIP) in aqueous solution. This method combines ultrasonic-assisted impregnation and precipitation, which can overcome the difficulties of long-time reactions, complex procedures, and extreme condition requirements. The successful fabrication of the Fe3O4/biochar material has been proven by a series of material characterization techniques, including X-ray diffraction (XRD), Scanning Electron Microscopy (SEM), Raman, Fourier Transform Infrared Spectroscopy (FTIR), X-ray Photoelectron Spectroscopy (XPS), and vibrating sample magnetometer (VSM). Moreover, the as-product FBP exhibited the excellent ability of photodegrading CIP and the possibility of magnetic recovery from the aqueous solution, suggesting a potential solution for removing antibiotic pollutants in environmental remediation.

12.
Nat Prod Res ; : 1-10, 2023 Feb 01.
Article in English | MEDLINE | ID: mdl-36722288

ABSTRACT

Phytochemical study on the roots of Achyranthes bidentata Blume led to the isolation of sixteen compounds including three new ones (1-3). Their chemical structures were determined as oleanolic acid 28-O-ß-D-glucopyranoside-3-O-[ß-D-glucopyranosyl-(1→3)-ß-D-galactopyranoside) (1), methyl (8Z,11Z)-5,6,7-trihydroxytetradeca-8,11-dienoate (2), methyl (6E,11Z)-5,8,9-trihydroxytetradeca-6,11-dienoate (3), fulgidic acid (4), (9E,11E)-13-oxooctadeca-9,11-dienoic acid (5), (9Z,11E,15Z)-13-hydroxyoctadeca-9,11,15-trienoic acid (6), oleanolic acid 28-O-ß-D-glucopyranoside-3-O-α-L-rhamnopyranosyl-(1→4)-ß-D-glucuronopyranoside (7), oleanolic acid 28-O-ß-D-glucopyranoside-3-O-ß-D-glucopyranosyl-(1→2)-[α-L-rhamnopyranosyl-(1→3)]-ß-D-glucuronopyranoside (8), oleanolic acid 3-O-ß-D-glucopyranosyl-(1→2)-[α-L-rhamnopyranosyl-(1→3)]-ß-D-glucuronopyranoside (9), oleanolic acid 3-O-α-L-rhamnopyranosyl-(1→3)-ß-D-glucuronopyranoside (10), blumenol C glucoside (11), citroside A (12), 6S,9S-roseoside (13), ginsenoside Rg1 (14), 20-hydroxyecdysone (15), and benzyl α-L-rhamnopyranosyl-(1→6)]-ß-D-glucopyranoside (16) by spectroscopic analysis. Compounds 1, 7 and 11-16 inhibited NO production in LPS-activated RAW264.7 cells with IC50 values in the range from 28.03 to 54.23 µM (positive control, L-NMMA: IC50 = 35.52 µM). Compounds 14 and 15 showed anti α-glucosidase activity with IC50 values of 176.24 and 156.92 µM, respectively, compared with the positive control, acarbose, IC50 = 160.99 µM.

13.
Clin Exp Med ; 23(1): 157-161, 2023 Feb.
Article in English | MEDLINE | ID: mdl-34842998

ABSTRACT

The X-linked hyper IgM syndrome is a primary immunodeficiency disorder (PID) due to mutations in the CD40LG gene. Hyper IgM syndrome is characterized by the absence or decreased levels of IgG and IgA and normal or elevated IgM levels in serum. Affected patients become susceptible to infections such as pneumonia, diarrhea, and skin ulcer types. Hematopoietic stem cell transplantation is the only treatment currently available and ideally performed before the age of 10 years. Early, accurate diagnosis will contribute to the effective treatment for patients with hyper IgM. The patients from different Vietnamese families who have been diagnosed with hyper IgM at The Allergy, Immunology and Rheumatology Department, Vietnam National Hospital Pediatrics, were performed a genetic analysis using whole exome sequencing. The mutations were confirmed by the Sanger sequencing method in patients and their families. The influence of the mutations was predicted with the in silico analysis tools: PROVEAN, SIFT, PolyPhen-2, and MutationTaster. In this study, two novel mutations (p.Thr254fs and p.Leu138Phe) in the CD40LG gene were found in Vietnamese patients with X-linked hyper IgM syndrome. Our results contribute to the general understanding of the etiology of the disease and can help diagnose the different forms of PID.


Subject(s)
Hyper-IgM Immunodeficiency Syndrome, Type 1 , Child , Humans , Hyper-IgM Immunodeficiency Syndrome, Type 1/diagnosis , Hyper-IgM Immunodeficiency Syndrome, Type 1/genetics , Hyper-IgM Immunodeficiency Syndrome, Type 1/therapy , Southeast Asian People , Vietnam , CD40 Ligand/genetics , Mutation , Immunoglobulin M
14.
J Racial Ethn Health Disparities ; 10(5): 2136-2144, 2023 10.
Article in English | MEDLINE | ID: mdl-36006587

ABSTRACT

BACKGROUND: Thirty years ago, Vietnam was a poor low-income country; since then, it has accomplished remarkable achievements in socio-economic development, not least in its high rate of poverty reduction. But cultural stereotypes remain a root cause of inequality for women and girls, forming a barrier to accessing opportunities in education, health care, and in receiving equal treatment. METHODOLOGY: This paper used a variety of methods, including a literature review of cultural stereotypes and gender equality and a survey of gender equality for ethnic minorities covering 2894 households by IFGS in 2019. It analyzed the correlation between different variables, including gender, ethnicity, family type, parents' perception about opportunities for ethnic minority girls for schooling, health care, and equality of treatment. In addition, this article uses material from qualitative data collected from 15 in-depth interviews and life stories. RESULTS: Traditional gender stereotypes are a major obstacle to achieving gender equality for women and girls. Customs and cultural practices ground prejudices against women and girls in the perception of numerous ethnic minorities in Vietnam. Being perceived as the breadwinner for their family, ethnic women have to participate in the labor force, in addition to taking care of other family members. Furthermore, they lack opportunities to communicate outside their small community. Therefore, in some ethnic minorities, there is a high rate of girls experiencing child marriage, and early pregnancies are more likely; this significantly affects their development and results in negative consequences for nutrition and maternal and child health care. In addition, girls who have an early marriage to satisfy their parents' desire have to drop out of school and limit their social interactions. Different causes, such as limited awareness, attachment to traditional beliefs, and parents' prejudice (that schooling is prioritized for boys), have locked adolescent girls into a vicious circle of child marriage and school dropout. This is also the reason for the high illiteracy rate of ethnic minority women in Vietnam. CONCLUSIONS: Traditional stereotyped gender perceptions have become major barriers to the development of ethnic minority girls and women in Vietnam. Child marriage and teenage pregnancy stem from the notion that girls do not need to be educated, but should join the workforce as early as possible and take care of their families; the result is a wide range of negative consequences, including keeping girls away from school and social interaction. Ethnic minority women have a high rate of illiteracy and social communication constraints, leading to their poor access to health care services. The spiral of gender inequality toward ethnic minority girls and women in Vietnam is still ongoing as parents' perceptions have not changed. Ethnic minority girls and women continue to be marginalized by the barriers of gender stereotypes and traditional culture.


Subject(s)
Ethnic and Racial Minorities , Ethnicity , Pregnancy , Male , Child , Adolescent , Humans , Female , Gender Equity , Vietnam , Minority Groups
15.
J Asian Nat Prod Res ; 25(6): 603-609, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36069750

ABSTRACT

One new phenylpropanoid glycoside, tinosinen A (1) and 13 known compounds, tinosinen (2), citrusin B (3), picraquassioside C (4), erythro-guaiacylglycerol-ß-O-4'-coniferyl alcohol (5), erythro-guaiacylglycerol-8-O-4'-(sinapyl alcohol) ether (6), erythro-syringylglycerol-8-O-4'-(sinapyl alcohol) ether (7), seco-isolariciresinol 9-O-D-ß-glucopyranoside (8), tinosposide A (9), pinoresinol-4'-O-ß-D-glucopyranoside (10), syringaresinol-4'-O-ß-D-glucopyranoside (11), pinoresinol (12), syringaresinol (13), and lirioresino-ß-dimethyl ether (14) were isolated from the stems of Tinospora sinensis (Lour.) Merr. Their structures were established by detailed spectroscopic studies and comparisons with those reported in the literature. Compound 13 showed significant inhibitory NO production (IC50 value of 38.53 ± 1.90 µM) in RAW264.7 macrophages, LPS-stimulated. Compounds 3-7, 11, 12, and 14 inhibited NO production with IC50 values ranging from 38.53 to 99.07 µM.


Subject(s)
Tinospora , Tinospora/chemistry , Nitric Oxide , Ethers
16.
J Asian Nat Prod Res ; 25(5): 510-517, 2023 May.
Article in English | MEDLINE | ID: mdl-35876609

ABSTRACT

A new furostane saponin, ramosaponin (1), and four known furostane saponins, protodioscin (2), dehydrotomatoside (3), (25 R)-26-O-(ß-D-glucopyranosyl)-furost-5-ene-3ß,22α,26-triol 3-O-ß-D-glucopyranosyl-(1→4)-ß-D-galactopyranoside (4), and anguivioside A (5) were isolated from the methanol extract of Allium ramosum seeds. Their structures were identified based on spectroscopic evidence and comparison with those reported in the literature. All compounds were evaluated for reduction of lipid accumulation in HepG2 cell line. As a result, compound 1 showed significant lipid accumulation inhibitory activity with an IC50 value of 64.32 ± 3.87 µM.


Subject(s)
Allium , Saponins , Allium/chemistry , Saponins/pharmacology , Saponins/chemistry , Plant Extracts/chemistry , Seeds , Lipids , Molecular Structure
17.
Acta Inform Med ; 31(4): 249-253, 2023.
Article in English | MEDLINE | ID: mdl-38379689

ABSTRACT

Background: Depression is a widespread and incapacitating mental health disorder that impacts millions of people worldwide, playing a substantial role in the overall global health challenges. Depression has a big impact on a person's quality of life, cognitive and social functioning, risk of suicide, risk of heart disease and other illnesses, as well as death from all causes. Objective: It may be challenging to choose the best tools to screen for severe depression in patients with recurrent depression disorder (PRD) considering the diversity of psychological scales in Vietnam. The aim of this study was to evaluate diagnostic value for detect severe depression of four psychological scales including Hamilton Depression Rating Scale (HAM-D), Hamilton Anxiety Rating Scale (HAM-A), Beck Depression Inventory Scale (BECK), and Zung's Self-Rating Anxiety Scale (SAS) by genders and age groups among PRD in Vietnam. Methods: This study was conducted at National Institute of Mental Health, Bach Mai Hospital, Vietnam, from 2020 to 2021. There were 109 PRD evaluated with HAM-D, HAM-A, BECK, and SAS by qualified psychiatrists. By analysing Area Under the Curve (AUC) of Receiver Operating Characteristic (ROC) curve, we determined sensitivity, specificity and cut points of four above scales. Results: Among four scales, the BECK scale had the best diagnostic effect with the most optimal sensitivity and specificity (61.64% and 75%, respectively). We proposed the new cut-off of HAM-D, HAM-A, BECK, and SAS for detecting severe depression among PRD were 20, 34, 30, and 45, respectively. By genders, the cut points for the HAM-D, HAM-A, BECK, and SAS in males were 20, 27, 34, and 44, respectively, while those figure in females were 14, 34, 30, and 46, respectively. By age groups, adults had cut values for four above scales of 20, 34, 27, and 45, respectively, whereas those for the elderly were 16, 17, 35, and 44, respectively. Conclusion: We highly recommended that BECK is the most optimal method to screen severe depression in PRD in Vietnam. It is essential to utilize varied cut values of HAM-D, HAM-A, BECK, and SAS for different genders and age groups.

18.
ACS Omega ; 7(42): 37379-37387, 2022 Oct 25.
Article in English | MEDLINE | ID: mdl-36312417

ABSTRACT

Increasing interest has been paid for hydrogen adsorption on atomically controlled nanoalloys due to their potential applications in catalytic processes and energy storage. In this work, we investigate the interaction of H2 with small-sized Ag n Cr (n = 1-12) using density functional theory calculations. It is found that the cluster structures are preserved during the adsorption of H2 either molecularly or dissociatively. Ag3Cr-H2, Ag6Cr-H2, and Ag9Cr-H2 clusters are identified to be relatively more stable from computed binding energies and second-order energy difference. The dissociation of adsorbed H2 on Ag2Cr, Ag3Cr, Ag6Cr, and Ag7Cr clusters is favored both thermodynamically and kinetically. The dissociative adsorption is unlikely to occur because of a considerable energy barrier before reaching the final state for Ag4Cr or due to energetic preferences for n = 1, 5, and 8-12 species. Comprehensive analysis shows that the geometric structure of clusters, the relative electronegativity, and the coordination number of the Cr impurity play a decisive role in determining the preferred adsorption configuration.

19.
Mol Genet Metab Rep ; 31: 100861, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35782615

ABSTRACT

Background: Wilson disease (WD) is caused by mutations in the copper-transporting P-type adenosine triphosphatase encoded by the ATP7B gene. In this study, we screened and identified the ATP7B mutations among unrelated Vietnamese pediatric patients. Methods: One-hundred-thirteen pediatric patients with clinically diagnosed WD were recruited. DNA samples were extracted from peripheral blood. Mutations in the ATP7B gene were identified by Sanger sequencing. Results: Approximately 98% of the clinically diagnosed WD patients carried ATP7B mutations. A total of 35 different ATP7B variants were detected, including five novel mutations (L658P, L792P, T977K, IVS4 + 1G > A and IVS20 + 4A > G). Remarkably, this study revealed that S105* was the most prevalent variant (32.27%), followed by L1371P (9.09%), I1148T (7.27%), R778L (6.36%), T850I (5.45%), V176Sfs*28 and IVS14-2A > G (4.55%). Most ATP7B mutations were located in the exon 2 (37.73%), exon 16 (10.00%), exon 8 (9.55%), exon 20 (9.09%), exon 10 and exon 18 (5.45%), exon 14 (5.00%), exon 13 and intron 14 (4.55%). We developed a streamlined procedure to quickly characterize mutations in the ATP7B gene in the Vietnamese children, starting with sequencing exon 2 and subsequently to exons 8,10,13-16,18, and 20 to allow quick diagnosis of clinically suspected patients. Conclusion: The mutational spectrum and hotspots of ATP7B gene in the Vietnamese population were fairly different from other East Asian populations. A streamlined procedure was developed to screen exon 2 in ATP7B gene among suspected WD patients to reduce genetically diagnostic cost, to facilitate early detection and intervention in countries with limited resources.

20.
Clin Chim Acta ; 533: 114-121, 2022 Aug 01.
Article in English | MEDLINE | ID: mdl-35728702

ABSTRACT

BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder (PID) due to genetic defects in the NADPH oxidase of phagocytes. Affected patients become susceptible to infections such as pneumonia, diarrhea, and skin ulcer types. The patients require life-long treatment with prophylactic antibiotics, antifungals, or hematopoietic stem cell transplantation (HSCT) therapy. Early, accurate diagnosis will contribute to the life-prolonging of patients with CGD. This study's aim is to identify the mutation related to the disease. CASE PRESENTATION: Six patients from different Vietnamese families were collected for genetic analysis at Allergy, Immunology, and Rheumatology Department, Vietnam National Hospital Pediatrics. They were diagnosed with CGD by flow cytometry test with the conversion of dihydrorhodamine (DHR) 123 to rhodamine 123. METHODS: We performed whole exome sequencing (WES) as a tool for detecting novel mutations. The mutations were confirmed by the Sanger sequencing method in patients and their families. The influence of the mutations was predicted with the in silico analysis tools: PROVEAN, SIFT, PolyPhen 2, Mutation Taster, and MaxEntScan. RESULTS: In this study, five mutations were found in six unrelated patients with CGD from different Vietnamese families. Three novel pathogenic mutations were detected including one mutation (c.45+2 T>G) in the CYBB gene and two mutations (c.187_188insA and c.289G>C) in the NCF2 gene. CONCLUSIONS: Our results of CGD-related mutations contribute to the general understanding of the etiology of the disease and emphasize that WES sequencing can be used as a tool to help to diagnose carriers as well as assist in genetic counseling and prenatal screening.


Subject(s)
Granulomatous Disease, Chronic , Asian People , Child , Granulomatous Disease, Chronic/diagnosis , Granulomatous Disease, Chronic/genetics , Humans , Mutation , NADPH Oxidases/genetics , Vietnam
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