Publications by authors named "Nguyen Thi Phuong Mai"

9 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

The role of p.Val444Ala variant in the ABCB11 gene and susceptibility to biliary atresia in Vietnamese patients.

Medicine (Baltimore) 2021 Nov;100(47):e28011

Institute of Genome Research, Vietnam Academy of Science and Technology, Vietnam.

Abstract: Biliary atresia (BA) is the most serious type of obstructive cholangiopathy that occurs in infants. BA can be the cause of death in children under 2 years if untreated early. However, the etiology of the disease is not known. BA is considered to be the result of the destruction of the bile duct system including the accumulation of bile acids. The bile salt export pump, a transporter protein encoded by the ABCB11 gene, plays the main role in the exportation and accumulation of bile acids. The p.Val444Ala variant in this gene is known to be associated with many cholestatic diseases. However, to date no study have been performed to evaluate the association of this variant with susceptibility to the risk of BA. In this study, we aimed to identify the frequency of p.Val444Ala variant and the risk of BA in Vietnamese patients.The polymerase chain reaction (PCR)- restriction fragment length polymorphism method was used to determine the frequency of alleles c.1331T>C (p.Val444Ala, rs2287622) in the ABCB11 gene in 266 Vietnamese patients with BA and 150 healthy people. The gene segment containing the variant was amplified by PCR with specific primers, after that the PCR products were cut by HaeIII restriction enzyme and analyzed on agarose gel to determine the genotypes. The frequency of alleles was assessed statistically to determine the association between these alleles and the risk of disease in patients.In our study, the frequency of alleles c.1331T>C (p.Val444Ala, rs2287622) in the ABCB11 gene was investigated the first time in the patients with BA. The results showed that CC and TC genotypes were significantly different between BA patients and healthy people (P < .01), and the C allele was associated with an increased risk of BA (odds ratio = 2.47; 95% confidence interval: 1.84-3.32; P < .01). The initial results of clinical, biochemical, and genetic analysis in our study suggested that the p.Val444Ala variant in the ABCB11 gene may be a susceptibility factor for the disease in Vietnamese patients with BA. These results provided new insights into the role of this ABCB11 variant in the pathogenesis of BA.
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http://dx.doi.org/10.1097/MD.0000000000028011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615439PMC
November 2021

Simulated Microgravity Induces the Proliferative Inhibition and Morphological Changes in Porcine Granulosa Cells.

Curr Issues Mol Biol 2021 Dec 10;43(3):2210-2219. Epub 2021 Dec 10.

Animal Biotechnology Department, Institute of Tropical Biology, Vietnam Academy of Science and Technology, Ho Chi Minh City 700000, Vietnam.

Astronauts are always faced with serious health problems during prolonged spaceflights. Previous studies have shown that weightlessness significantly affects the physiological function of female astronauts, including a change in reproductive hormones and ovarian cells, such as granulosa and theca cells. However, the effects of microgravity on these cells have not been well characterized, especially in granulosa cells. This study aimed to investigate the effects of simulated microgravity (SMG) on the proliferation and morphology of porcine granulosa cells (pGCs). pGC proliferation from the SMG group was inhibited, demonstrated by the reduced O.D. value and cell density in the WST-1 assay and cell number counting. SMG-induced pGCs exhibited an increased ratio of cells in the G0/G1 phase and a decreased ratio of cells in the S and G2/M phase. Western blot analysis indicated a down-regulation of cyclin D1, cyclin-dependent kinase 4 (cdk4), and cyclin-dependent kinase 6 (cdk6), leading to the prevention of the G1-S transition and inducing the arrest phase. pGCs under the SMG condition showed an increase in nuclear area. This caused a reduction in nuclear shape value in pGCs under the SMG condition. SMG-induced pGCs exhibited different morphologies, including fibroblast-like shape, rhomboid shape, and pebble-like shape. These results revealed that SMG inhibited proliferation and induced morphological changes in pGCs.
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http://dx.doi.org/10.3390/cimb43030155DOI Listing
December 2021

Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients.

Clin Exp Med 2021 Nov 29. Epub 2021 Nov 29.

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

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.
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http://dx.doi.org/10.1007/s10238-021-00774-0DOI Listing
November 2021

Evaluation of cytotoxicity and potential toxicity of the extract from cultivated Lindl.

J Toxicol Environ Health A 2021 12 12;84(24):987-1003. Epub 2021 Aug 12.

Department of Animal Biotechnology, Institute of Tropical Biology, Vietnam Academy of Science and Technology, Ho Chi Minh City, Vietnam.

Lind. () has promising anti-oxidant, hyperglycemic, hepatoprotective, and immunomodulatory activities as well as anti-tumor effects. However, the pharmacological actions of cultured plants remain to be determined. Therefore, the objective of the study was to assess cytotoxicity and potential toxicity of an extract derived from cultivated , termed as iARE. The total flavonoid content and predominant flavonoid compounds of extract were identified and quantitatively analyzed. cytotoxicity of iARE was examined using several cancer and normal cell lines. The apoptotic activity and expression of apoptosis-associated genes were also examined in MCF7 cells to determine the underlying mechanisms related to anti-proliferative effects. potential toxicity of iARE was assessed following acute and subchronic oral administration in Sprague Dawley rats. Quercetin, kaempferol, and isorhamnetin were three flavonoid components identified in iARE. The extract exerted cytotoxic effects on various cancer cells but not normal fibroblasts. Apoptosis in MCF7 cells was induced by iARE in a concentration-dependent manner associated with increased Bax/Bcl-2 ratio and reduced mitochondrial membrane potential ΔΨm, leading to release of cytochrome c, activation of caspase-3/7 and caspase-9, and cleavage of PARP. In the acute oral toxicity study, no mortality or toxicological signs were observed in rats at 1000 or 5000 mg/kg. In a subchronic oral toxicity study, iARE at a dosage of up to 1000 mg/kg produced no mortality or treatment-related adverse effects on general behavior, food intake, body weight, relative organ weights. No apparent marked changes in the histopathology of the liver and kidney were detected. Data demonstrated that iARE induced cytotoxic effects in cancer cells are associated with lackof toxicity. Thus, iARE was suggested to be considered as apotential therapeutic candidate for cancer treatment.
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http://dx.doi.org/10.1080/15287394.2021.1963363DOI Listing
December 2021

Impact of Covid-19 partial lockdown on PM, SO, NO, O, and trace elements in PM in Hanoi, Vietnam.

Environ Sci Pollut Res Int 2021 Apr 8. Epub 2021 Apr 8.

Department of Environmental Water Quality Analysis, Institute of Environmental Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Hanoi, Vietnam.

Covid-19 lockdowns have improved the ambient air quality across the world via reduced air pollutant levels. This article aims to investigate the effect of the partial lockdown on the main ambient air pollutants and their elemental concentrations bound to PM in Hanoi. In addition to the PM samples collected at three urban sites in Hanoi, the daily PM, NO, O, and SO levels were collected from the automatic ambient air quality monitoring station at Nguyen Van Cu street to analyze the pollution level before (March 10th-March 31st) and during the partial lockdown (April 1st-April 22nd) with "current" data obtained in 2020 and "historical" data obtained in 2014, 2016, and 2017. The results showed that NO, PM, O, and SO concentrations obtained from the automatic ambient air quality monitoring station were reduced by 75.8, 55.9, 21.4, and 60.7%, respectively, compared with historical data. Besides, the concentration of PM at sampling sites declined by 41.8% during the partial lockdown. Furthermore, there was a drastic negative relationship between the boundary layer height (BLH) and the daily mean PM in Hanoi. The concentrations of Cd, Se, As, Sr, Ba, Cu, Mn, Pb, K, Zn, Ca, Al, and Mg during the partial lockdown were lower than those before the partial lockdown. The results of enrichment factor (EF) values and principal component analysis (PCA) concluded that trace elements in PM before the partial lockdown were more affected by industrial activities than those during the partial lockdown.
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http://dx.doi.org/10.1007/s11356-021-13792-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8032319PMC
April 2021

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

A novel homozygous mutation IVS6+5G>T in CYP11B1 gene in a Vietnamese patient with 11β-hydroxylase deficiency.

Gene 2015 Jul 22;565(2):291-4. Epub 2015 Apr 22.

Institute of Genome Research, Vietnam Academy of Science and Technology, Vietnam. Electronic address:

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex. CAH cases arising from impaired 11β-hydroxylase are the second most common form. Mutations in the CYP11B1 gene are the cause of 11β-hydroxylase deficiency. This study was performed on a patient with congenital adrenal hyperplasia and with premature development such as enlarged penis, muscle development, high blood pressure, and bone age equivalent of 5 years old at 2 years of chronological age. Biochemical tests for steroids confirmed the diagnosis of CAH. We used PCR and sequencing to screen for mutations in CYP11B1 gene. Results showed that the patient has a novel homozygous mutation of guanine (G) to thymine (T) in intron 6 (IVS6+5G>T). The analysis of this mutation by MaxEntScan boundary software indicated that this mutant could affect the gene splicing during transcription.
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http://dx.doi.org/10.1016/j.gene.2015.04.052DOI Listing
July 2015

Identification of a Novel 5-HT2 Receptor CDNA in the Ovary tissues of Black Tiger Shrimp (Paneaus Monodon).

EJIFCC 2005 Oct 14;16(3):91-92. Epub 2005 Oct 14.

Haiphong Medical University, Vietnam; Chalermporn Ongvarrasopone.

The purpose of this experimental study is to isolate a 5-HT receptor from Penaeus monodon. The mRNA were isolated from ovary (stage III ) of the wild broad stock then reserve transcribed to cDNA by using Oligo (dT) primer and superscript III enzyme. The template was amplified by PCR technique, used Taq DNA polymerase and two degenerate primers 5-HT-TM2 and 5-HT-TM6, corresponding to the conserved amino acid sequences of invertebrate 5-HT receptors. After cloning, checking positive PCR product, and sequencing analysis revealed an opened frame of 404 acid nucleotides, which was high identity of acid amine coding, and coded for 133 acid amines of protein G. Those result and the 5-HT-TM2 primer expressed in that opened frame were evident presentation of 5-HT2 receptor in P. monodon.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001052PMC
October 2005
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