Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome

Nguyen Thu Hien,Nguyen Duc Quan,Kim Lien Nguyen Thi,Thi Thanh Ngan Nguyen,Nguyen Thi Phuong Mai,Tran Ngoc Dung,Nguyen Huy Hoang 한국유전학회 2023 Genes & Genomics Vol.45 No.4

Background Androgens and androgen receptor (AR) are critical regulators of the masculinization process in male sexual development. The absence of a functioning AR results in the development of the androgen insensitivity syndrome (AIS), a rare disorder of sexual development (DSD) characterized by the external genitalia feminization, gynecomastia, and impaired spermatogenesis. Objective To determine the AR gene mutations associated with male DSD in four unrelated Vietnamese patients. Methods To detect the disease-causing mutations, whole exome sequencing (WES) was performed on four patients diagnosed with AIS. Sanger sequencing was then used for validation of the identified mutations. Finally, 12 web-based tools, three-dimensional protein modeling software, and the guidelines issued by the American College of Medical Genetics and Genomics were used to assess the potential pathogenicity of these mutations. Results Four distinct novel mutations, namely c.1834T > A (p.Cys612Ser), c.2122 C > G (p.Leu708Val), c.2630T > G (p.Phe877Cys), and c.2641 C > A (p.Leu881Met) in the AR gene, were identified in four AIS patients using WES. The in silico analysis results revealed that the Cys612, Leu708, Phe877, and Leu881 sites are important for an appropriate response to androgens of the AR, and mutation at these sites can have adverse effects on the AR functions, androgen–AR interaction, and AR signaling pathway. Conclusions WES and in silico analyses strongly suggested that four novel AR mutations are pathogenic and have led to the development of AIS in the four Vietnamese patients under consideration.

Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II

Thu Hien Nguyen,Ngoc‑Lan Nguyen,Chi Dung Vu,Can Thi Bich Ngoc,Ngoc Khanh Nguyen,Huy Hoang Nguyen 한국유전학회 2021 Genes & Genomics Vol.43 No.2

Background Primordial dwarfsm (PD) is a group of genetically heterogeneous disorders related to developmental disabilities occurring in the uterus and prolongs during all stages of life, resulting in short stature, facial deformities and abnormal brain. Objective To determine the exact cause of the disease in two Vietnamese patients priory diagnosed with PD by severe preand postnatal growth retardation with marked microcephaly and some bone abnormalities. Methods Whole-exome sequencing was performed for the two patients and mutations in genes related to PD were screened. Sanger sequencing was applied to examine the mutations in the patients of their families. Results Three novel mutations in the PCNT gene which have not been reported previously were identifed in the two patients. Of which, two frameshift mutations (p.Thr479Profs*6 and p.Glu2742Alafs*8) were detected in patient I and one stop-gained mutation (p.Gln1907*) was detected in the patient II. These mutations may result in a truncated PCNT protein, leading to an inactivated PACT domain corresponding to residue His3138–Trp3216 of PCNT protein. Therefore, the three mutations may cause a defciency of protein functional activity and result in the phenotypes of primordial dwarfsm in the two patients. Conclusions Clinical presentations in combination with genetic analyses supported an accurate diagnosis of the two patients with microcephalic osteodysplastic primordial dwarfsm type II (MOPD II). In addition, these results have important implications for prenatal genetic screening and genetic counseling for the families.

Whole-exome sequencing identifies two novel missense mutations (p.L111P and p.R3048C) of RYR3 in a Vietnamese patient with autism spectrum disorders

Thu Hien Nguyen,Thi Thanh Ngan Nguyen,Bac Viet Le,Ngoc Minh Thanh,Thi Kim Lien Nguyen,Van Hai Nong,Huy Hoang Nguyen 한국유전학회 2017 Genes & Genomics Vol.39 No.3

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders characterized by ritualistic- repetitive behaviors and impaired verbal and non-verbal communication. Boys are more likely to be diagnosed with ASD than girls. Genetics have been shown to play a key role in the etiology of autism. Many genes were found to be implicated in the inheritance of idiopathic autism. Analysis of mutation abnormalities associated with autism contributes significantly to the identification of autism candidate genes. Whole-exome sequencing has been shown as an application of the next generation sequencing technology used to determine the variations of all coding regions, or exons of the known genes. In the present study, we have found two novel heterozygous missense mutations (p.L111P and p.R3048C) on the RYR3 gene, which was located in the autism susceptibility region (15q14-q15) in a 9-year-old boy with ASD. Therefore, the sequence missense mutations provide the first suggestive link between a genetic abnormality in the RYR3 gene and a neurodevelopmental disorder.

The Impact of International Integration on the Inequality of Income between Rural and Urban Areas in Vietnam

NGUYEN, Thi Thanh Huyen,NGUYEN, Thi Thu Hien,NGUYEN, Thi Le Hang,NGUYEN, Van Cong Korea Distribution Science Association 2020 The Journal of Asian Finance, Economics and Busine Vol.7 No.3

The study examines the impact of international integration on Vietnam's rural and urban income inequalities using the regression model. The data used for this study is based on the results of the Vietnam Household Living Standards survey from 2008 to 2016 of the General Statistics Office. These surveys conducted nationwide with a sample size of 46,995 households in 3,133 communes/wards which were representative at national, regional, urban, rural and provincial levels. The level of international economic integration used in the study is the proportion of import and export turnover of GDP, the proportion of FDI and GDP by province. Due to the heterogeneity and unobservableness of the single observant in the data set, we selected the models of random and fixed effects. The research results show that during the economic integration process, the Export/GDP factor is negatively related to income inequality. The remaining factors (GDP per capita, FDI/GDP, Educational level of households, Percentage of internet users, Aggregation of foreign cash inflow and GDP of the province) are all positively related to income inequality. The findings help assess the impact of international integration on rural-urban income inequality, but also provides a concrete basis to help policymakers address income inequality in the integration process.

The Determinants of Environmental Information Disclosure in Vietnam Listed Companies

NGUYEN, Thi Le Hang,NGUYEN, Thi Thu Hien,NGUYEN, Thi Thanh Huyen,LE, Thi Hong Anh,NGUYEN, Van Cong Korea Distribution Science Association 2020 The Journal of Asian Finance, Economics and Busine Vol.7 No.2

Environmental pollution and climate change in Vietnam are now becoming a major concern. This situation is increasing the pressure on the companies to improve their social responsibility in production and business activities and disclose the environmental information to meet the requirements of stakeholders. This study investigates the internal and external factors of the company that affects the environmental information disclosure of listed companies on the Vietnam stock market as business sector, firm size, corporate manager perceptions, profitability, financial leverage, community pressure, pressures from stakeholders, government pressure influencing environmental information disclosure. Analytical data collected through the survey of 120 listed companies on the Ho Chi Minh City Stock Exchange (HOSE). By testing Cronbach's Alpha, exploratory factor analysis (EFA) and logistic regression analysis, the results of the study show that the level of environmental information disclosure of listed companies on the stock market in Vietnam depends heavily on government regulations, followed by the pressure from stakeholders, community pressure, views of business managers, companies size, business sector, and particularly profitability and financial leverage factors that have a negative relationship with environmental information disclosure.

Chemical constituents of the Annona glabra fruit and their cytotoxic activity.

Hien, Nguyen Thi Thu,Nhiem, Nguyen Xuan,Yen, Duong Thi Hai,Hang, Dan Thi Thuy,Tai, Bui Huu,Quang, Tran Hong,Tuan Anh, Hoang Le,Kiem, Phan Van,Minh, Chau Van,Kim, Eun-Ji,Kim, Seung Hyun,Kang, Hee Kyoun Swets Zeitlinger 2015 PHARMACEUTICAL BIOLOGY Vol.53 No.11

<P>Traditional Chinese medicines have attracted increasing interest as potential sources of novel drugs with a wide range of biological and pharmacological activities. Annona glabra Linn (Annonaceae) is used in traditional medicine as an anticancer drug. Phytochemical investigation of this plant led to the isolation of acetogenins, ent-kauranes, peptides, and alkaloids. In addition, compounds exhibited anticancer, anti-HIV-reserve, and antimalaria.</P>

When 5004 is Said “Five Thousand Zero Hundred Remainder Four”: The Influence of Language on Natural Number Transcoding; Cross-National Comparison

( Nguyen Hien Thi Thu ),( Gregoire Jacques ) 한국수학교육학회 2014 수학교육연구 Vol.18 No.2

The Vietnamese language has a specific property related to the zero in the name-number system. This study was conducted to examine the impact of linguistic differences and of the zero’s position in a number on a transcoding task (verbal number into Arabic number). Vietnamese children and French-speaking Belgian children, from grades 3 to 6, participated in the study. The success rate and the type of errors they made varied, depending on their grade and language. At Grade 4, Vietnamese childrenshowed performances equivalent to Grade 6 Belgian children. Our results confirmed the support provided by language to the understanding and performances in a transcoding task. Results also showed that a syntactic zero is easier to manipulate than a lexical zero for Vietnamese children. The relative influence of language and the source of errors are discussed.

Fabrication of hollow titania fibers by electro-spinning for photocatalytic degradation of organic dyes

Nguyen Thi Thu Hien,Nguyen Hoai Han,Cho Young-Sang 한국세라믹학회 2023 한국세라믹학회지 Vol.60 No.4

Nanostructured titania (TiO2) fibers such as nonporous, macroporous, hollow, and hollow macroporous fibers were successfully prepared by electrospinning using titanium diisopropoxide bis (acetylacetonate) (TDIP) as starting material. Hollow TiO2 fibers were fabricated using two syringe pumps and dual concentric nozzle to prepare hollow microstructure inside the fibrous materials. Oil was supplied to core of nozzle and polymeric mixture containing the titania precursor was injected into outer layer of nozzle. Then, oil from electro-spun fibers was removed by washing with organic solvent to obtain hollow microstructure. Macroporous hollow titania fibers could be also fabricated from spinning solution composed of the titania precursor and PS nanospheres as sacrificial templates. Thickness of fiber walls of macroporous hollow titania fibers became thinner from 425.5 to 353.5 nm, when flow rate of titania precursor solution was adjusted from 15 to 10 μL/min. SEM, XRD, and FT-IR analysis were employed to characterize morphologies, crystallinity, and compositions of the fibers, respectively. Photocatalytic removal of methylene blue under UV light illumination was performed using four different kinds of the titania fibers to compare their photocatalytic activity. Rate constant of the degradation reaction could be estimated from experimental data during photocatalytic degradation, assuming first-order kinetics. The rate constant of hollow titania fiber (0.0772 min−1) was estimated as the highest value among various kinds of the nanostructured fibers, showing the best photocatalytic ability for decomposition of organic dyes.

Screening of Vietnamese Medicinal Plants for Cytotoxic Activity

Nguyen Bich Thu,Trinh Nam Trung,Do Thi Ha,Nguyen Minh Khoi,Tran Viet Hung,Tran Thi Hien,Yim Namhui,배기환 한국생약학회 2010 Natural Product Sciences Vol.16 No.1

Thirty-two methanol extracts of thirty-one Vietnamese medicinal plants were evaluated for the cytotoxic activity against five human cancer cell lines, including A549, MCF-7, HT 1080, Huh-7, and HepG2. Of these, the nine extracts of Acanthopanax trifoliatus (4), Acanthopanax gracilistylus (5), Siegesbeckia orientalis (10), Betula alnoides (11), Passiflora edulis (18), Zanthoxylum simulans (leaf, 23), Adenosma caeruleum (26), Solanum verbascifolium (29), and Alpinia malaccensis (31), exhibited high potent cytotoxic activity showing a certain degree of selectivity against the different cell types, with IC50 values ranging from 2.1 to 3.8 mg/mL.

Applying Stochastic Fractal Search Algorithm (SFSA) in Ranking the Determinants of Undergraduates Employability: Evidence from Vietnam

DINH, Hien Thi Thu,CHU, Ngoc Nguyen Mong,TRAN, Van Hong,NGUYEN, Du Van,NGUYEN, Quyen Le Hoang Thuy To Korea Distribution Science Association 2020 The Journal of Asian Finance, Economics and Busine Vol.7 No.12

Employability has recently become the first target of the national higher education. Its model has been updated to catch the new trend of Industry 4.0. This paper aims at analyzing and ranking the determinants of undergraduate employability, focusing on business and economics majors in Ho Chi Minh City, Vietnam. In-depth interviews with content analysis have been primarily conducted to reach an agreement on a key group of factors: human capital, social capital, and identity. The Stochastic Fractal Search Algorithm (SFSA) is then applied to rank the sub-factors. Human capital is composed of three major elements: attitude, skill, and knowledge. Social capital is approached at both structural and cognitive aspects with three typical types: bonding, bridging, and linking. The analysis has confirmed the change of priority in employability determinants. Human capital is still a driver but the priority of attitude has been confirmed in the contemporary context. Then, social capital with the important order of linking, bridging, and bonding is emphasized. Skill, knowledge, and identity share the least weight in the model. It is noted that identity is newly proposed in the model but a certain role has been found. The findings are crucial for education strategies to enhance university graduate employability.