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This study aims to develop a new chitosan-biochar composite derived from agricultural waste for removing sulfamethoxazole (SMX) antibiotics in water. Biochar was prepared from orange peel (OB) and spent coffee grounds (SCB). To fabricate chitosan-biochar composites, chitosan and biochar were crosslinked with glutaraldehyde. Results showed that pH, adsorbent dosage, time, temperature, and initial concentrations have a significant impact on the SMX adsorption. The adsorption data was better described by Langmuir (with good regression) than Freundlich model. The highest adsorption capacity (Qmax) of SMX on OB, SCB, CTS-OB, and CTS-SCB were 3.49, 7.65, 7.24, and 14.73 mg/g, respectively. The Freundlich constant (KF) values for adsorption capacity were 1.66, 1.91, 2.57, and 5.57 (mg1-nLn/g), respectively, for OB, SCB, CTS-OB, and CTS-SCB. Ion exchange, π bonding, hydrogen bonding and pore filling, were proposed as dominant mechanisms of SMX removal process.
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Quitosana , Poluentes Químicos da Água , Antibacterianos , Sulfametoxazol , Água , Poluentes Químicos da Água/análise , Carvão Vegetal , Adsorção , CinéticaRESUMO
The study aimed to investigate differences in the prevalence of gynecological healthcare service utilization in 12 ethnic minority groups and associated socio-demographic correlates with gynecological healthcare service utilization in Vietnam. Based on the national survey on healthcare utilization among 6912 people in 12 ethnic minorities, 900 women aged 21-49 years were included in the final analysis. Prevalence of gynecological healthcare service utilization in 12 ethnic minority groups was measured, based on the question "Have you ever used any gynecological healthcare services?" Socio-demographic characteristics including region, ethnicity, age, marital status, literacy level, education level, languages spoken, occupation, religion, household economy status, using contraception, and distance to the nearest healthcare facility were examined. The association between gynecological healthcare service utilization and socio-demographic characteristics was assessed by using logistic regression. The results showed that the prevalence of gynecological healthcare service utilization was 62.0% (95% CI: 58.7-65.2%), which ranged from 36.5 (Mnong) to 87.7% (Bru Van Kieu). Bru Van Kieu women had significantly higher odds of gynecological healthcare service utilization (OR = 9.42, 95% CI = 3.71-23.91), compared to those in Khmer ethnicity. Besides, Ba Na, Cham Ninh Thuan, and Dao women also had significantly higher odds of gynecological healthcare service utilization (Ba Na: OR = 5.73, 95% CI = 2.15-15.26; Cham Ninh Thuan: OR = 4.24, 95% CI = 1.79-10.06; Dao: OR = 3.43, 95% CI = 1.49-7.90), compared to those in Khmer ethnicity. Getting married, being older, being not poor, and using contraception had significantly higher odds of using gynecological healthcare services. Health education specialists and healthcare workers should be aware of these issues so that they can provide appropriate gynecological healthcare services and ensure high coverage of routine gynecological exams in ethnic minority women in reproductive age.
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Minorias Étnicas e Raciais , Etnicidade , Humanos , Feminino , Grupos Minoritários , Vietnã/epidemiologia , Aceitação pelo Paciente de Cuidados de Saúde , Atenção à Saúde , Disparidades em Assistência à SaúdeRESUMO
Background: Vaccine hesitancy has become a prominent public health concern, particularly within the coronavirus disease 2019 (COVID-19) pandemic context. Worries about vaccine side effects are often cited as a reason for hesitancy, while media reporting about this topic plays an important role in influencing the public's perspectives about vaccines and vaccination. In Vietnam, during 2012-2013, there were several adverse events following immunization (AEFIs) of Quinvaxem- a pentavalent vaccine in the Expanded Immunization Program, which made big headlines in the media. Such incidences have contributed to changes in vaccination policies and influenced parents' concerns to date. This study explores the portrayal of Quinvaxem in Vietnam digital news during four periods marked by important events. Methods: We performed quantitative and qualitative analysis with a coding framework to identify main content focus, sentiments towards Quinvaxem, and emotional tones in these articles. Results: In total, we included 360 articles into analysis. The amount of news coverage about Quinvaxem increased after AEFIs happened, from 7 articles before AEFIs to 98 and 159 articles in the following periods when AEFIs and investigation into vaccine safety occurred. Most articles are neutral in titles (n=255/360) and content (n=215/360) towards Quinvaxem and do not convey emotional expressions (n=271/360). However, articles focusing on side effects contain negative sentiments and emotional expressions more frequently than articles of other contents while AEFIs details were conflicting across articles. Vaccine sentiments are provoked in the information about vaccine quality and safety, health authority, local delivery, and quoted vaccine opinions. Emotion-conveying elements in 89/360 articles included emotional wording and imagery and expressive punctuation. Conclusions: The heterogeneity of information in online news may reinforce uncertainty about vaccine safety and decrease vaccine intention. Our results have important implications for vaccine communication, given the current plan of the Vietnamese government to roll out COVID-19 vaccination to younger children.
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This study aims to establish the association of family support and nutrition and health education by health workers with the status of overweight and obesity among patients with type 2 diabetes mellitus (T2DM) receiving outpatient treatment at a hospital. This descriptive cross-sectional study was conducted on 280 outpatients with type 2 diabetes at Bach Mai hospital from December 2019 to September 2020 by using assessments of anthropometric parameters and examining dietary habits and family support, as well as nutrition and health education and counseling by health workers. The prevalence of overweight and obesity in patients with T2DM was 35.4% (51.2% in men and 22.2% in women; P < .05). Patients never or rarely supported by their families or counseled by health workers were more vulnerable to overweight and obesity than those who frequently received support and counseling (OR = 1.41 vs 2.06; P < .05). Family support and counseling from health workers play a crucial role in promoting and sustaining healthy dietary habits and proper physical exercise in diabetic patients, contributing to their lowered risk of overweight and obesity.
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Patient satisfaction has implications for resource distribution across primary, secondary, and tertiary care, as well as accessibility of quality services and equity of service delivery. This study assessed outpatient satisfaction with health services and explored the determinants at the individual and contextual levels in Vietnam. Data on 4372 outpatients were extracted from the Vietnam Health Facility Assessment survey 2015. Three levels of logistic regression were applied to examine the association between outpatient satisfaction and three types of explanatory variables. Outpatients satisfied with their community health center or district hospital accounted for relatively high proportions (85% and 73%, respectively). Patients' age, occupation, and individual characteristics were significant predictors of patient satisfaction, whereas provincial level factors were not significantly associated with the dependent variable. When individual-level characteristics were controlled, outpatients who had a longer waiting time for health services were less likely to report being satisfied. Interventions for improving outpatient satisfaction should pay attention to simplifying the health procedure at health facilities to reduce patients' waiting time and increase their examining time.
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BACKGROUND: Previous studies have observed lower utilization of maternal healthcare services by ethnic minority groups in Vietnam compared with the majority Kinh community. This study sought to assess the utilization of maternal healthcare service-associated factors within 12 ethnic minority groups. METHOD: The cross-sectional study enrolled 996 women from 12 ethnic minority groups in Vietnam in 2019. Women had pregnancy outcomes in the last 5 years. The two variables for maternal healthcare utilization were [1] a minimum of four antenatal contacts and [2] health facility-based delivery. We examined the association of individual characteristics of maternal healthcare services using multilevel modeling. Odds ratios (ORs) and 95% confidence intervals (CIs) were reported. RESULTS: This nationally representative study found that 34.1% of women from ethnic minority backgrounds had four or more antenatal contacts during pregnancy, ranging from 8.3% in Mong community to 80.2% in Cham An Giang. Most of the women (94.4%) delivered at health facilities. Factors independently correlated with having fewer than four antenatal contacts included being illiterate, early marriage, unemployment, religious affiliation, household economy, and distance to the nearest health facility. Factors significantly associated with home delivery were living in the most disadvantaged areas and having fewer than four antenatal contacts. CONCLUSION: Substantial inequity exists in antenatal coverage both within ethnic minority groups and between socio-economic groups. The low coverage of having at least four antenatal contacts and its' correlates with facility-based delivery suggests that the government should focus efforts on increasing the number of antenatal contacts for ethnic minority women.
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Etnicidade/estatística & dados numéricos , Serviços de Saúde Materna/estatística & dados numéricos , Grupos Minoritários/estatística & dados numéricos , Aceitação pelo Paciente de Cuidados de Saúde/etnologia , Adulto , Estudos Transversais , Feminino , Humanos , Gravidez , Cuidado Pré-Natal/estatística & dados numéricos , Fatores Socioeconômicos , Vietnã , Adulto JovemRESUMO
The aim of this study was to report the prevalence of self-reported non-communicable diseases among ethnic minority populations in Vietnam and related factors. A total of 5033 individuals aged 15 years and older who belonged to ethnic minority populations from 12 provinces in Vietnam completed a household survey. The overall prevalence of self-reported non-communicable diseases was 12.4% (95% CI: 11.5%-13.4%). Cardiovascular diseases were the most prevalent, followed by diabetes. Ethnicity was shown to have an independently significant correlation to having any non-communicable diseases. Older people, near-poor and non-poor people had significantly higher odds of having non-communicable diseases as compared to younger and poor people.
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BACKGROUND: Achieving access to clean water and basic sanitation remains as major challenges in Vietnam, especially for vulnerable groups such as minority people, despite all the progress made by the Millennium Development Goal number 7.C. OBJECTIVES: The study aimed to describe the access to improved water sources and sanitation of the ethnic minority people in Vietnam based on a national survey and to identify associated factors. METHODS: A cross-sectional study was conducted in 2019 with a sample size of 1385 ethnic minority households in 12 provinces in Vietnam. Multivariate logistic regression modeling was performed to examine the probability of having access to improved water sources and sanitation and sociodemographic status at a significance level of P < .05. RESULTS: The access to improved water sources and sanitation was unequal among the ethnic minority people in Vietnam, with the lowest access rate in the northern midland and mountainous and Central Highland areas and the highest access rate in the Mekong Delta region. Some sociodemographic variables that were likely to increase the ethnic minority people's access to improved water sources and/or sanitation included older age, female household heads, household heads with high educational levels, religious households, and households in not poor status. CONCLUSION AND RECOMMENDATIONS: The study suggested more emphasis on religion for improving the ethnic minority's access to improved water sources and sanitation. Besides, persons of poor and near-poor status and with low educational levels should be of focus in future water and sanitation intervention programs.
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Vietnam is facing a shortage of skilled Environmental health workforce. A Training Needs Assessment was conducted to develop a list of environmental health tasks, a list of core competencies and assess the need for a Master of Environmental Health training program in Vietnam. To answer these questions, a cross-sectional study was conducted in Vietnam in 2017, using both qualitative and quantitative methods. The qualitative study involved a desk review, 29 in-depth interviews, two consultative workshops, and two expert meetings. For the quantitative component, 298 environmental health staff working at different levels completed a structured postal questionnaire. Results showed that different sectors were implementing various environmental health tasks but that there was currently no training program focusing on environmental health in Vietnam. Thirteen core competencies for a Master of Environmental Health were recommended. An urgent need to develop training programs to help building environmental health competencies at the Masters degree level was uniformly expressed. This could be achieved by developing a Master of Public Health with an Environmental Health stream in the short-term and a Master of Environmental Health program in the long-term.
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OBJECTIVE: The study aims to explore the association between the adherence to dietary recommendations among type 2 diabetes mellitus (T2DM) patients with their fasting blood glucose levels. METHOD: This is a cross-sectional anthropometric and dietary study conducted on 169 T2DM patients receiving outpatient treatment at the Central Nursing and Rehabilitation Hospital in Thanh Hoa provincial hospital in Vietnam in 2018. RESULTS: The rate of patients who had good fasting glycemic control was still low (30.8%). Their diets were poor in energy and unbalanced; the contribution of carbohydrates to the total dietary intake was high (68.2%), and only 24.9% of patients consumed 4-6 meals/day. There was a statistically significant association between the dietary intake with carbohydrate dietary intake containing ≥60% carbohydrate and the number of meals per day (<4 meals) with their fasting blood glucose levels (OR = 4.964, p < 0.05 and OR = 16.508; p < 0.01, respectively). CONCLUSIONS AND RECOMMENDATIONS: Hospital staff are advised to combine treatment with dietary counseling to help patients controlling their weights and glycemic levels more efficient, thereby contributing to improving their treatment outcomes.
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Water hygiene, sanitation, and proper management of health care wastes at health care facilities are important in preventing infections and improving health and the environment. This article describes the access to safe water and sanitation facilities and the disposal of medical wastes at commune health centers (CHCs) in Vietnam. Data was extracted from the 2015 World Bank Vietnam District and Commune Health Facility Survey. Bivariate and multivariate logistic regression was applied to identify associations of CHCs' access to improved water and sanitation and their medical waste management. Overall, 72.76% CHCs had access to both improved water and sanitation facilities, and better access was found in the richest communes. Rural CHCs had higher prevalence of appropriate wastewater treatment. The majority of CHCs combusted medical solid wastes by specialized incinerations, contracted out with sanitation companies, or transported them to district health centers. However, the data was insufficient to give in-depth analysis and conclusion on water and sanitation conditions and the management of medical wastes at CHCs. More information should be collected for further analysis and conclusion.
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Eliminação de Resíduos de Serviços de Saúde/normas , Serviços de Saúde Rural/estatística & dados numéricos , Saneamento/normas , Abastecimento de Água/normas , Humanos , VietnãRESUMO
BACKGROUND: Overweight and obesity have short-term and long-term effects on children's physical and mental health. These conditions currently have a tendency to increase among Vietnamese school children. AIMS: This study aimed to assess the quality of life among 8-10 year-old children in Vietnam. METHODS: This cross-sectional study was conducted with a sample of 264 children aged 8-10 years (including 88 obese children and 176 normal-weight ones) at two primary schools in Hanoi, Vietnam, in 2018 and their mothers or fathers participated in this study. The Vietnamese version of the Pediatric Quality of Life Inventory (PedsQL) 4.0 generic score scales were used to collect information from children and their parents about the children's quality-of-life. Mean and standard deviation of PedsQL scores were calculated. Independent t-test was used to compare mean scores between normal-weight and obese children. RESULTS: Both child self reports and parent-proxy reports revealed that obese children had significantly lower scores for the total scales compared to normal weight children (80.7 versus 84.0; p < 0.05 for proxy reports and 77.6 vs 84.6; p < 0.001 for self reports). Total scale and subscale scores reported by parents were lower compared to those reported by children. Besides, 79% of normal weight children reported having PedsQL total scores in the highest quartile (≥75%), compared to 56.8 % of obese children (p = 0.01). Similarly, these proportions for parent-proxy reports were 79.5% and 65.9%, respectively (p < 0.05). Emotional scores were both found the lowest among the four subscales (71.6 for child self reports and 73.1 for parent-proxy reports). RECOMMENDATIONS: Interventions aimed to improve quality of life of overweight and obese children in Vietnam should not focus only on diet adjustment and physical exercise but need to address all dimensions of health-related quality of life, especially emotional, social and school functioning.
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INTRODUCTION: The Law on Tobacco Control and the Law on Advertisement prohibit the advertising of any tobacco product in Vietnam. Tobacco promotion and marketing are alsostrictly prohibited. However, the violation of tobacco adverting and promotion is still common in Vietnam. OBJECTIVES: This article aims at describing the exposure to tobacco advertising and promotion among the population aged 15+ years in Vietnam based on the data from the Global Adult Tobacco Survey 2015 from the view of the community, identifying any possible associations between the exposure to tobacco advertising and promotion and other individual factors, and discussing its possible public health implications. METHOD: A cross-sectional study with the nationwide scale. Secondary data from the Global Adult Tobacco Survey 2015 was explored and analyzed. Chi-square test and multivariate logistic regressions were applied in the data analysis. RESULTS: The most common type of adults' exposure to tobacco advertising and promotion was points of sale (8.6%); 9.8% adults exposure to one source of tobacco advertising and 4.0% of them exposed to one source of tobacco promotion. Around 13.3% of Vietnamese adults were exposed to tobacco advertisement, while 2.0% were exposed to tobacco promotion, 5.3% were exposed to both tobacco advertising and promotion, and 16.6% were exposed to tobacco advertising or promotion. Gender, educational level, age, occupation, marital status, socioeconomic status, location (urban, rural), and current smoking status were associated with the exposure to tobacco advertising, tobacco promotion, tobacco advertising and promotion, and tobacco advertising or promotion. CONCLUSION AND RECOMMENDATION: Although there are comprehensive bans on tobacco advertising and promotion in Vietnam, adults aged 15+ years still reported their exposure to tobacco advertising and promotion. There should be a strict enforcement of the ban on tobacco advertising and promotion in Vietnam.
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Publicidade/estatística & dados numéricos , Nicotiana , Fumar/epidemiologia , Adolescente , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Saúde Pública , Inquéritos e Questionários , Vietnã/epidemiologia , Adulto JovemRESUMO
OBJECTIVE: This article aims to describe the knowledge, attitude, frequency and level of consumption regarding non-alcoholic carbonated soft drinks (NCSD) among students from two high schools in Hanoi. MATERIALS AND METHODS: A cross-sectional survey including a semi-quantitative food frequency were conducted with 620 students from two high schools, one in the urban area and the other in the rural area of Hanoi city. RESULTS: Data on knowledge of health risk associated with the consumption of NCSD showed neagtive results (only 11.9% of the students were able to identify all the contents of NCSD correctly, and 2.7% knew all eight health risks due to consumption of NCSD). Besides, 31.4% of all students did not have the intention to quit NCSD despite being aware of health risks associated with the consumption of NCSD. Students who reported consuming NCSD within one month prior to the study constituted 83.1%, and those who consumed NCSD 1-2 times/week accounted for the highest proportion, being 21.3%. On average, each student consumed 2,094 ml NCSD within one month prior to the study. Suburban students and male students consumed more than urban and female ones, respectively (p < 0.01). RECOMMENDATIONS: Students should be equipped with information about NCSD related health risks and encouraged to consume less NCSD.
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Fathers have an important but often neglected role in the promotion of healthy breastfeeding practices in developing countries. A community-based education intervention was designed to mobilize fathers' support for early breastfeeding. This study aimed to evaluate an education intervention targeting fathers to increase the proportion of early breastfeeding initiation and to reduce prelacteal feeding. Quasi-experimental study design was used to compare intervention and control areas located in two non-adjacent rural districts that shared similar demographic and health service characteristics in northern Viet Nam. Fathers and expectant fathers with pregnant wives from 7 to 30 weeks gestational age were recruited. Fathers in the intervention area received breastfeeding education materials, counselling services at a commune health centre and household visits. They were also invited to participate in a breastfeeding promotion social event. After intervention, early breastfeeding initiation rate was 81.2% in the intervention area and 39.6% in the control area (P < 0.001). Babies in the intervention area were more likely to be breastfed within the first hour after birth [odds ratio (OR) 7.64, 95% confidence interval (CI) 4.81-12.12] and not to receive any prelacteal feeding (OR 4.43, 95% CI 2.88-6.82) compared with those in the control area. Fathers may positively influence the breastfeeding practices of mothers, and as a resource for early childcare, they can be mobilized in programmes aimed at improving the early initiation of breastfeeding.
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Aleitamento Materno/psicologia , Pai/psicologia , Promoção da Saúde , Mães/psicologia , Estudos de Casos e Controles , Aconselhamento , Características da Família , Feminino , Seguimentos , Educação em Saúde , Humanos , Lactente , Modelos Logísticos , Masculino , Gravidez , População Rural , Fatores Socioeconômicos , Inquéritos e Questionários , População Urbana , VietnãRESUMO
1,4-Dihydroxy-2-naphthoic acid was used as a substrate for a straightforward five-step synthesis of 3-substituted 1H-benzo[g]isochromene-5,10-diones, with a Michael addition of N-acylmethylpyridinium ylides across 2-hydroxymethyl-1,4-naphthoquinone and a subsequent acid-mediated dehydratation of intermediate hemiacetals as the key steps. The obtained benzo[g]isochromene-5,10-diones were subsequently deployed for further synthetic elaboration to produce new 3,4-dihydrobenzo[g]isochromene-5,10-diones and (3,4-dihydro-)4a,10a-epoxybenzo[g]isochromene-5,10-diones. All compounds were screened for their cytotoxic and antimicrobial effects, revealing an interesting cytotoxic activity of 1H-benzo[g]isochromene-5,10-diones against different cancer cell lines.
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Compostos de Epóxi/síntese química , Compostos de Epóxi/farmacologia , Naftoquinonas/síntese química , Naftoquinonas/farmacologia , Anti-Infecciosos/síntese química , Anti-Infecciosos/química , Anti-Infecciosos/farmacologia , Ácidos Carboxílicos/síntese química , Ácidos Carboxílicos/química , Ácidos Carboxílicos/farmacologia , Linhagem Celular Tumoral , Ensaios de Seleção de Medicamentos Antitumorais , Compostos de Epóxi/química , Humanos , Concentração Inibidora 50 , Estrutura Molecular , Naftalenos/síntese química , Naftalenos/química , Naftalenos/farmacologia , Naftoquinonas/química , Relação Estrutura-AtividadeRESUMO
PURPOSE: To identify differentially expressed genes in human keratoconus keratocyte by cDNA microarray. METHODS: Normal and keratoconic cornea were cultured for keratocytes. RNA was extracted. cDNA probe labeled with fluorescence dye was made from Poly A+ RNA, hybridized with microarray slide, containing 164 human apoptosis genes. Signal intensity was measured. Expression ratio between keratoconus and normal was determined using ImaGene Ver.3.0. Identified genes were further evaluated by RT-PCR and real-time PCR. RESULTS: Five over-expressed and four under-expressed genes were identified. Of these, differential expression of tumor necrosis factor alpha-induced protein 6 (TNFAIP6), human insulin-like growth factor binding protein 5 (IGFBP5), and IGFBP3 were verified and confirmed by RT-PCR. Real-time PCR showed TNFAIP6 increased by 3.3 folds, while IGFBP5, IGFBP3 decreased by 14 and 11 folds respectively. CONCLUSIONS: The identified genes could be important and deserve further investigation. Significant differential expression of TNFAIP6, IGFBP5, and IGFBP3 may indicate an important role of these genes in the mechanism underlying stromal thinning.
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Apoptose/genética , Substância Própria/citologia , Fibroblastos/metabolismo , Regulação da Expressão Gênica , Ceratocone/metabolismo , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Moléculas de Adesão Celular/genética , Células Cultivadas , Feminino , Perfilação da Expressão Gênica , Humanos , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/genética , Proteína 5 de Ligação a Fator de Crescimento Semelhante à Insulina/genética , Ceratocone/patologia , Masculino , Pessoa de Meia-Idade , RNA/isolamento & purificação , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
PURPOSE: Mutations of the human transforming growth factor beta-induced gene (TGFBI) were reported to cause granular (GCD) and Avellino (ACD) corneal dystrophy in various nationalities. In this study we examined the TGFBI gene in a Vietnamese population with GCD and ACD. METHODS: Eight unrelated Vietnamese families, including 20 affected and 24 unaffected individuals, were examined; 50 normal Vietnamese individuals were used as controls. Genomic DNA was extracted from peripheral blood leukocytes. The TGFBI gene was analyzed using the polymerase chain reaction and direct sequencing. The corneal button was studied. RESULTS: Slit-lamp examination revealed typical features of GCD in most cases. A few features of ACD and a patient with an atypical form of GCD were also seen. Histopathological analysis of a GCD cornea showed deposits that stained bright red with Masson trichrome. Sequencing revealed three distinct mutations: R555W in six families, R124H in one family, and D123H in another. CONCLUSIONS: R555W and R124H mutations were co-segregated with the disease phenotype and thus caused GCD and ACD, respectively, in the families studied. The R555W detected in six of the eight families indicates that the GCD phenotype may be the most common in Vietnamese individuals, unlike in other Asians (Japanese and Korean), where ACD is most common (>90%). The D123H mutation may cause an atypical variant of GCD.
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Distrofias Hereditárias da Córnea/genética , Proteínas da Matriz Extracelular/genética , Mutação de Sentido Incorreto , Adolescente , Adulto , Idoso , Distrofias Hereditárias da Córnea/etnologia , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Reação em Cadeia da Polimerase , Fator de Crescimento Transformador beta/genética , Vietnã/epidemiologiaRESUMO
PURPOSE: Mutations in a new carbohydrate sulfotransferase gene (CHST6) encoding corneal N-acetylglucosamine-6-sulfotransferase (C-GlcNac-6-ST) have been identified as the cause of macular corneal dystrophy (MCD) in various ethnicities. This study was conducted to examine the CHST6 gene in Vietnamese with MCD. METHODS: Nineteen unrelated families, including 35 patients and 38 unaffected relatives were examined clinically. Blood samples were collected. Fifty normal Vietnamese individuals served as control subjects. Genomic DNA was extracted from leukocytes. Analysis of the CHST6 gene was performed with polymerase chain reaction and direct sequencing. Corneal buttons were studied histopathologically. RESULTS: A slit lamp examination revealed clinical features of MCD with gray-white opacities and stromal haze between. On histopathology, corneal sections showed positive staining with colloidal iron. Sequencing of the CHST6 gene revealed six homozygous and three compound heterozygous mutations. The homozygous mutations, including L59P, V66L, R211Q, W232X, Y268C, and 1067-1068ins(GGCCGTG) were detected, respectively, in two, one, eight, one, one, and two families. Compound heterozygous mutations R211Q/Q82X, S51L/Y268C, and Y268C/1067-1068ins(GGCCGTG) were identified, each in one family. A single heterozygous change at codon 76 (GTG-->ATG) was detected in family L, resulting in a valine-to-methionine substitution (V76M). None of these mutations was detected in the control group. CONCLUSIONS: Mutations identified in the CHST6 gene cosegregated with the disease phenotype in all but one family studied and thus caused MCD. Among these, the R211Q detected in 9 of 19 families may be the most common mutation in Vietnamese. These data also indicate that significant allelic heterogeneity exists for MCD.
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Distrofias Hereditárias da Córnea/genética , Mutação de Sentido Incorreto , Sulfotransferases/genética , Adolescente , Adulto , Idoso , Córnea/enzimologia , Córnea/patologia , Distrofias Hereditárias da Córnea/etnologia , Distrofias Hereditárias da Córnea/patologia , Análise Mutacional de DNA , Feminino , Heterogeneidade Genética , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Reação em Cadeia da Polimerase , Análise de Sequência de DNA , Vietnã/epidemiologia , Carboidrato SulfotransferasesRESUMO
PURPOSE: To report the clinical and genetic findings of Vietnamese families affected with macular corneal dystrophy (MCD) in 2 generations. METHODS: Two families, including 7 patients and 3 unaffected members, were examined clinically. Blood samples were collected. Fifty normal Vietnamese individuals were used as controls. Genomic DNA was extracted from leukocytes. Analysis of the carbohydrate sulfotransferase (CHST6) gene was performed using polymerase chain reaction and direct sequencing. RESULTS: The typical form of MCD was recognized in family B, in which sequencing of CHST6 gene revealed an nt 1067-1068ins(GGCCGTG) mutation (frameshift after 125V) homozygously in MCD patients and heterozygously in the unaffected members. Family N also showed clinical features of MCD, moderate in the mother but severe in the affected son. Sequencing revealed a single heterozygous Arg211Gln in the mother, compound heterozygous Arg211Gln+ Gln82Stop in the affected son, and heterozygous Arg211Gln mutation in the unaffected members. The identified mutations in these pedigrees were excluded from normal controls. CONCLUSIONS: The novel frameshift and compound heterozygous mutations might be responsible for MCD in the families studied. The phenotypic variation between affected parents and offspring was unclear. In family N, severe MCD phenotype seen in the affected son may be due the fact that he had an early stop codon mutation (Gln82Stop).