Publications by authors named "Nguyen Thi Mai Huong"

10 Publications

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Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure.

Medicine (Baltimore) 2022 Jan;101(2):e28547

Institute of Genome Research, Vietnam Academy of Science and Technology, 18 - Hoang Quoc Viet Str., Caugiay, Hanoi, Vietnam.

Rationale: Hepatobiliary diseases such as biliary atresia (BA), Wilson disease, and progressive familial intrahepatic cholestasis are common causes of morbidity and mortality in young children. Affected patients progress rapidly to end-stage cirrhosis and require liver transplantation or die. Mutations in many genes have been identified to play an important role in the pathogenesis of hepatobiliary diseases.

Patient Concerns And Diagnosis: In this study, we identified mutations in an 8-year-old girl who had severe liver failure. The patient was first diagnosed with BA at 2.5 months of age and has undergone Kasai surgery to connect the umbilical cord and jejunum. After that, the patient suddenly had unusual developments with symptoms of jaundice, acute liver failure with hemolysis. She was tested and diagnosed with Wilson disease.

Interventions And Outcomes: She was treated according to the regimen for a patient with Wilson disease but had abnormal progress leading to severe liver failure. Genetic analysis was performed by whole exome sequencing and Sanger sequencing methods. The genetic analysis revealed that the patient had a homozygous mutation (p.Gly17Glyfs77∗) in the KRT18 gene, a double heterozygous mutation (p.Ser105∗ and p.Pro992Leu) in the ATP7B gene, and a homozygous variant (p.Val444Ala) in the ABCB11 gene. In silico prediction of mutations indicated that these mutations are the cause of the severe liver failure in the patient.

Lesson: This is a rare clinical case of a BA patient combined with Wilson disease. Our results suggested that whole exome sequencing is an effective diagnostic tool and emphasizes the importance of early diagnosis and appropriate management to save lives and prevent serious complications in the patient.
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http://dx.doi.org/10.1097/MD.0000000000028547DOI Listing
January 2022

A multi-proxy approach to exploring Homo sapiens' arrival, environments and adaptations in Southeast Asia.

Sci Rep 2021 Oct 26;11(1):21080. Epub 2021 Oct 26.

UMR 7209 Archéozoologie, Archéobotanique: Sociétés, Pratiques, Environnements, Muséum National d'Histoire Naturelle, CNRS, Paris, France.

The capability of Pleistocene hominins to successfully adapt to different types of tropical forested environments has long been debated. In order to investigate environmental changes in Southeast Asia during a critical period for the turnover of hominin species, we analysed palaeoenvironmental proxies from five late Middle to Late Pleistocene faunas. Human teeth discoveries have been reported at Duoi U'Oi, Vietnam (70-60 ka) and Nam Lot, Laos (86-72 ka). However, the use of palaeoproteomics allowed us to discard the latter, and, to date, no human remains older than ~ 70 ka are documented in the area. Our findings indicate that tropical rainforests were highly sensitive to climatic changes over that period, with significant fluctuations of the canopy forests. Locally, large-bodied faunas were resilient to these fluctuations until the cooling period of the Marine Isotope Stage 4 (MIS 4; 74-59 ka) that transformed the overall biotope. Then, under strong selective pressures, populations with new phenotypic characteristics emerged while some other species disappeared. We argue that this climate-driven shift offered new foraging opportunities for hominins in a novel rainforest environment and was most likely a key factor in the settlement and dispersal of our species during MIS 4 in SE Asia.
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http://dx.doi.org/10.1038/s41598-021-99931-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8548499PMC
October 2021

Effects of microwave treatments and retrogradation on molecular crystalline structure and in vitro digestibility of debranched mung-bean starches.

Int J Biol Macromol 2021 Nov 14;190:904-910. Epub 2021 Sep 14.

Department of Food Technology, International University, Quarter 6, LinhTrung Ward, Thu Duc District, Ho Chi Minh City, Viet Nam; Vietnam National University in Ho Chi Minh City, Viet Nam. Electronic address:

The objective of this study was to investigate morphology, molecular crystalline structure, and digestibility of debranched mung bean starches with or without microwave treatment and retrogradation at different temperature. The mung bean starch was firstly debranched with pullulanase, and then the debranched starch containing 20% moisture content was treated by microwave irradiation for 3 min with or without further retrograded at +25, +4, or -18 °C for 24 h. All treated starches exhibited the B + V-type crystalline polymorph as determined by the XRD and the CNMR. The FT-IR results showed that the debranched starches had lower degree of order but higher degree of double helix than those of the native starch. The microwave treatment or further recrystallization of the debranched starch for more 24 h significantly improved crystalline structure of starch granules with higher degree of relative crystallinity, degree of order, and degree of double helices. The resistant starch content of the treated starch was in a range of 39.7-52.8%, significantly higher than that of the native starch (15.6%). As a result, the microwave-assisted debranched starch with further crystallization for 24 h was found to have highly ordered structure of granules, which highly resisted to the enzyme digestion.
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http://dx.doi.org/10.1016/j.ijbiomac.2021.09.032DOI Listing
November 2021

Physicochemical properties and in vitro digestibility of mung-bean starches varying amylose contents under citric acid and hydrothermal treatments.

Int J Biol Macromol 2020 Dec 20;164:651-658. Epub 2020 Jul 20.

Department of Food Technology, International University, Quarter 6, LinhTrung Ward, Thu Duc District, Ho Chi Minh City, Viet Nam; Vietnam National University, Ho Chi Minh City, Viet Nam. Electronic address:

In this study, starches of three mung bean cultivars (Vigna radiata) having different amylose contents were isolated and modified using a combination of citric acid and heat-moisture treatment (CA-HMT) or a combination of citric acid and annealing treatment (CA-ANN). Physicochemical properties and in vitro digestibility of native and treated mung bean starches were investigated. Resistant starch (RS) contents of the high-amylose, medium-amylose and low-amylose starches treated with CA-ANN were 41.1%, 35.7% and 27.1%, respectively, being higher than those treated with CA-HMT or native starches in the same variety. The CA-ANN did not affect the morphology and crystallinity of the starches. However, the starches treated by the CA-HMT were partly gelatinized and had higher degree of relative crystallinity as compared to the native starches. The DP¯s, swelling power, and viscosity of the treated starches were significantly lower than those of the native starches. The high-amylose mung bean starch was greatly affected by the treatments rather than medium- or low-amylose mung bean starch.
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http://dx.doi.org/10.1016/j.ijbiomac.2020.07.187DOI Listing
December 2020

Evidence for increased hominid diversity in the Early to Middle Pleistocene of Indonesia.

Nat Ecol Evol 2019 05 8;3(5):755-764. Epub 2019 Apr 8.

UMR 7194 CNRS, Muséum national d'histoire naturelle, Paris, France.

Since the first discovery of Pithecanthropus (Homo) erectus by E. Dubois at Trinil in 1891, over 200 hominid dentognathic remains have been collected from the Early to Middle Pleistocene deposits of Java, Indonesia, forming the largest palaeoanthropological collection in South East Asia. Most of these fossils are currently attributed to H. erectus. However, because of the substantial morphological and metric variation in the Indonesian assemblage, some robust specimens, such as the partial mandibles Sangiran 5 and Sangiran 6a, were formerly variably allocated to other taxa (Meganthropus palaeojavanicus, Pithecanthropus dubius, Pongo sp.). To resolve the taxonomic uncertainty surrounding these and other contentious Indonesian hominid specimens, we used occlusal fingerprint analysis (OFA) to reconstruct their chewing kinematics; we also used various morphometric approaches based on microtomography to examine the internal dental structures. Our results confirm the presence of Meganthropus as a Pleistocene Indonesian hominid distinct from Pongo, Gigantopithecus and Homo, and further reveal that Dubois's H. erectus paratype molars from 1891 are not hominin (human lineage), but instead are more likely to belong to Meganthropus.
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http://dx.doi.org/10.1038/s41559-019-0860-zDOI Listing
May 2019

The prehistoric peopling of Southeast Asia.

Science 2018 07;361(6397):88-92

Anthropological and Paleoenvironmental Department, Institute of Archaeology, Hanoi, Vietnam.

The human occupation history of Southeast Asia (SEA) remains heavily debated. Current evidence suggests that SEA was occupied by Hòabìnhian hunter-gatherers until ~4000 years ago, when farming economies developed and expanded, restricting foraging groups to remote habitats. Some argue that agricultural development was indigenous; others favor the "two-layer" hypothesis that posits a southward expansion of farmers giving rise to present-day Southeast Asian genetic diversity. By sequencing 26 ancient human genomes (25 from SEA, 1 Japanese Jōmon), we show that neither interpretation fits the complexity of Southeast Asian history: Both Hòabìnhian hunter-gatherers and East Asian farmers contributed to current Southeast Asian diversity, with further migrations affecting island SEA and Vietnam. Our results help resolve one of the long-standing controversies in Southeast Asian prehistory.
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http://dx.doi.org/10.1126/science.aat3628DOI Listing
July 2018

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.

BMC Med Genet 2018 06 18;19(1):104. Epub 2018 Jun 18.

Institute of Genome Research, Vietnam Academy of Science and Technology, 18 - Hoang Quoc Viet str., Caugiay, Hanoi, Vietnam.

Background: Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. The disease has an onset in a childhood and result in a significant neurological impairment or require lifelong treatment. Another serious consequence of the disease is the development of liver damage and acute liver failure leading to liver transplant. The disorder is caused by mutations in the ATP7B gene, encoding a P-type copper transporting ATPase.

Case Presentation: We performed genetic analysis of three unrelated patients from three different Vietnamese families. These patients had clinical features such as numbness of hands and feet, vomiting, insomnia, palsy, liver failure and Kayser-Fleischer (K-F) rings and were diagnosed with Wilson disease in the Human Genetics Department, Vietnam National Children's Hospital. The entire coding region and adjacent splice sites of ATP7B gene were amplified and sequenced by Sanger method. Sequencing data were analyzed and compared with the ATP7B gene sequence published in Ensembl (ENSG00000123191) by using BioEdit software to detect mutations.

Conclusions: In this study, five mutations in the ATP7B gene were found. Among of these, three mutations were novel: c.750_751insG (p.His251Alafs*19) in exon 2, c.2604delC (p.Pro868Profs*5) in exon 11, and c.3077 T > A (p.Phe1026Tyr) in exon 14. Our results of the mutations associated with Wilson disease might facilitate the development of effective treatment plans.
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http://dx.doi.org/10.1186/s12881-018-0619-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006946PMC
June 2018

Physicochemical characteristics and in vitro digestibility of potato and cassava starches under organic acid and heat-moisture treatments.

Int J Biol Macromol 2017 Feb 22;95:299-305. Epub 2016 Nov 22.

School of Biotechnology, International University, Vietnam National University, Quarter 6, Linh Trung Ward, Thu Duc District, HoChiMinh City, Vietnam.

A combination of acid (citric acid or lactic acid) and heat-moisture treatment was used to modify cassava and potato starches in this study. Changes in physicochemical properties and in vitro digestibility of the treated starches were investigated. The cassava starch contained 17.0% amylose and possessed A-type crystallinity, whereas the potato starch had 27.4% amylose and possessed B-type crystallinity. After acid and heat-moisture treatment, the crystalline structure of the cassava starch remained unchanged (A type), while the crystalline structure of the potato starch changed from B type to the C (B+A) type. The acid and heat-moisture treatment increased gelatinization temperature, peak and final viscosities of cassava starch but reduced peak and breakdown viscosities of the potato starch. After acid and heat-moisture treatment, rapid digestible starch contents of the treated cassava and potato starches were significantly reduced. However, resistant starch (RS) contents of the treated starches significantly increased as compared to the native starches. Citric acid was found to have high impact on formation of RS in starches. The RS contents of cassava and potato starches obtained under the citric acid and heat-moisture treatment were 40.2% and 39.0%, respectively, two times higher than those of the native starches.
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http://dx.doi.org/10.1016/j.ijbiomac.2016.11.074DOI Listing
February 2017

A short review of fecal indicator bacteria in tropical aquatic ecosystems: knowledge gaps and future directions.

Front Microbiol 2015 17;6:308. Epub 2015 Apr 17.

Institut de Recherche pour le Développement, Géosciences Environnement Toulouse, UMR 5563, Université Paul Sabatier Toulouse, France.

Given the high numbers of deaths and the debilitating nature of diseases caused by the use of unclean water it is imperative that we have an understanding of the factors that control the dispersion of water borne pathogens and their respective indicators. This is all the more important in developing countries where significant proportions of the population often have little or no access to clean drinking water supplies. Moreover, and notwithstanding the importance of these bacteria in terms of public health, at present little work exists on the persistence, transfer and proliferation of these pathogens and their respective indicator organisms, e.g., fecal indicator bacteria (FIB) such as Escherichia coli and fecal coliforms in humid tropical systems, such as are found in South East Asia or in the tropical regions of Africa. Both FIB and the waterborne pathogens they are supposed to indicate are particularly susceptible to shifts in water flow and quality and the predicted increases in rainfall and floods due to climate change will only exacerbate the problems of contamination. This will be furthermore compounded by the increasing urbanization and agricultural intensification that developing regions are experiencing. Therefore, recognizing and understanding the link between human activities, natural process and microbial functioning and their ultimate impacts on human health are prerequisites for reducing the risks to the exposed populations. Most of the existing work in tropical systems has been based on the application of temperate indicator organisms, models and mechanisms regardless of their applicability or appropriateness for tropical environments. Here, we present a short review on the factors that control FIB dynamics in temperate systems and discuss their applicability to tropical environments. We then highlight some of the knowledge gaps in order to stimulate future research in this field in the tropics.
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http://dx.doi.org/10.3389/fmicb.2015.00308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400915PMC
May 2015

Building postgraduate capacity in medical and public health research in Vietnam: an in-service training model.

Public Health 2005 Mar;119(3):174-83

Population Council, Vietnam.

In Vietnam, needs to update medical and public health research capacity, but advanced training in research methodology in universities is still very limited. The first university-certified research training course aimed at physicians was conducted in Ho Chi Minh City in 2000. This paper describes the processes, outcomes and lessons learned from the project, to enable the training course to be repeated to increase research capacity among health professionals in Vietnam and other developing countries. Based on needs assessment, the 9-month, part-time course offered advanced training in practical research skills, including epidemiology, biostatistics and qualitative research methods. Thirty-seven trainees (teaching staff, interns and clinicians) completed the course, which included four group research projects. With active support from university management, the course was rigorous and participation was excellent. Trainees's knowledge of research methodologies increased, and their self-evaluation of achievement of the training objectives was high. The total score of the epidemiology and biostatistics test improved from 56% (median) in the pre-course test to 83% in the post-course test. The group research project results were disseminated through a conference and publication in peer-reviewed journals. The course has since been repeated twice as a 1-month intensive course to accommodate trainees from distant regions. This type of rigorous in-service research training at universities and teaching hospitals in developing countries appears to be an effective, sustainable approach. It also holds promise for producing research data that are responsive to a country's own needs and which are likely to be applied in health policy and practice. Further evaluation of the impact and cost of such models is indicated.
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http://dx.doi.org/10.1016/j.puhe.2004.05.005DOI Listing
March 2005
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