6 results on '"Punchalee Mungkalasut"'
Search Results
2. Effect of neonatal reticulocytosis on glucose 6-phosphate dehydrogenase (G6PD) activity and G6PD deficiency detection: a cross-sectional study
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Thanaporn Pimpakan, Punchalee Mungkalasut, Pornchinee Tansakul, Makamas Chanda, Watcharapong Jugnam-Ang, Supamas Charucharana, Poonlarp Cheepsunthorn, Suthat Fucharoen, Santi Punnahitananda, and Chalisa Louicharoen Cheepsunthorn
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G6PD deficiency ,Reticulocyte ,Quantitative method ,Automated UV enzymatic method ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Screening for G6PD deficiency in newborns can help prevent severe hemolysis, hyperbilirubinemia, and bilirubin encephalopathy, as recommended by the World Health Organization (WHO). It has been speculated that the presence of a high number of reticulocytes in newborns interferes with the diagnosis of G6PD deficiency since reticulocytes contain higher amounts of G6PD enzyme than mature erythrocytes. Therefore, the purposes of this study were to assess the effect of reticulocytosis in the determination of blood G6PD activity in Thai newborns by using a novel automated UV-based enzymatic assay and to validate the performance of this assay for the detection of G6PD deficiency in newborn samples. Methods The levels of reticulocytes and G6PD activity were measured in blood samples collected from 1,015 newborns. G6PD mutations were identified using TaqMan® SNP genotyping assay, PCR–restriction fragment length polymorphism (PCR–RFLP), and direct sequencing. The correlation between the levels of reticulocytes and G6PD activity was examined. The performance of the automated method was compared with that of the fluorescent spot test (FST) and the standard quantitative assay. Results The automated assay detected G6PD deficiency in 6.5% of the total newborn subjects compared to 5.3% and 6.1% by the FST and the standard method, respectively. The minor allele frequencies (MAFs) of G6PD Viangchan G871A , G6PD Mahidol G487A , and G6PD Union C1360T were 0.066, 0.005, and 0.005, respectively. The reticulocyte counts in newborns with G6PD deficiency were significantly higher than those in normal male newborns (p
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- 2022
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3. Haematological profile of malaria patients with G6PD and PKLR variants (erythrocytic enzymopathies): a cross-sectional study in Thailand
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Punchalee Mungkalasut, Patcharakorn Kiatamornrak, Watcharapong Jugnam-Ang, Srivicha Krudsood, Poonlarp Cheepsunthorn, and Chalisa Louicharoen Cheepsunthorn
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G6PD deficiency ,Pyruvate kinase ,Erythrocyte enzymopathy ,G6PD Mahidol ,Thailand ,Southeast Asian ,Arctic medicine. Tropical medicine ,RC955-962 ,Infectious and parasitic diseases ,RC109-216 - Abstract
Abstract Background Glucose 6-phosphate dehydrogenase (G6PD) and pyruvate kinase (PKLR) deficiencies are common causes of erythrocyte haemolysis in the presence of antimalarial drugs such as primaquine and tafenoquine. The present study aimed to elucidate such an association by thoroughly investigating the haematological indices in malaria patients with G6PD and PKLR R41Q variants. Methods Blood samples from 255 malaria patients from Thailand, Myanmar, Laos, and Cambodia were collected to determine haematological profile, G6PD enzyme activity and G6PD deficiency variants. The multivariate analysis was performed to investigate the association between anaemia and G6PD Mahidol G487A , the most common mutation in this study. Results The prevalence of G6PD deficiency was 11.1% (27/244) in males and 9.1% (1/11) in female. The MAFs of the G6PD Mahidol G487A and PKLR R41Q variants were 7.1% and 2.6%, respectively. Compared with patients with wildtype G6PD after controlling for haemoglobinopathies, G6PD-deficient patients with hemizygous and homozygous G6PD Mahidol G487A exhibited anaemia with low levels of haemoglobin (11.16 ± 2.65 g/dl, p = 0.041). These patients also exhibited high levels of reticulocytes (3.60%). The median value of G6PD activity before treatment (Day 0) was significantly lower than that of after treatment (Day 28) (5.51 ± 2.54 U/g Hb vs. 6.68 ± 2.45 U/g Hb; p
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- 2022
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4. Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population.
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Rebekah van Bruggen, Christian Gualtieri, Alexandra Iliescu, Chalisa Louicharoen Cheepsunthorn, Punchalee Mungkalasut, Jean-François Trape, David Modiano, Bienvenu Sodiomon Sirima, Pratap Singhasivanon, Mark Lathrop, Anavaj Sakuntabhai, Jean-François Bureau, and Philippe Gros
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Medicine ,Science - Abstract
Pyruvate kinase (PKLR) is a critical erythrocyte enzyme that is required for glycolysis and production of ATP. We have shown that Pklr deficiency in mice reduces the severity (reduced parasitemia, increased survival) of blood stage malaria induced by infection with Plasmodium chabaudi AS. Likewise, studies in human erythrocytes infected ex vivo with P. falciparum show that presence of host PK-deficiency alleles reduces infection phenotypes. We have characterized the genetic diversity of the PKLR gene, including haplotype structure and presence of rare coding variants in two populations from malaria endemic areas of Thailand and Senegal. We investigated the effect of PKLR genotypes on rich longitudinal datasets including haematological and malaria-associated phenotypes. A coding and possibly damaging variant (R41Q) was identified in the Thai population with a minor allele frequency of ~4.7%. Arginine 41 (R41) is highly conserved in the pyruvate kinase family and its substitution to Glutamine (R41Q) affects protein stability. Heterozygosity for R41Q is shown to be associated with a significant reduction in the number of attacks with Plasmodium falciparum, while correlating with an increased number of Plasmodium vivax infections. These results strongly suggest that PKLR protein variants may affect the frequency, and the intensity of malaria episodes induced by different Plasmodium parasites in humans living in areas of endemic malaria.
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- 2015
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5. An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on
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Suparak, Para, Punchalee, Mungkalasut, Makamas, Chanda, Issarang, Nuchprayoon, Srivicha, Krudsood, and Chalisa Louicharoen, Cheepsunthorn
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Alpha-thalassemia trait ,parasitic diseases ,HbE ,Original Article ,Southeast Asian ,Silent alpha-thalassemia ,Malaria - Abstract
Background The protective effect of α-thalassemia, a common hematological disorder in Southeast Asia, against Plasmodium falciparum malaria has been well established. However, there is much less understanding of the effect of α-thalassemia against P. vivax. Here, we aimed to investigate the proportion of α-thalassemia including the impact of α-thalassemia and HbE on the parasitemia of P. vivax in Southeast Asian malaria patients in Thailand. Methods A total of 210 malaria patients, admitted to the Hospital for Tropical Diseases, Thailand during 2011–2012, consisting of 159 Myanmeses, 13 Karens, 26 Thais, 3 Mons, 3 Laotians, and 6 Cambodians were recruited. Plasmodium spp. and parasite densities were determined. Group of deletion mutation (--SEA, −α3.7, −α4.2deletion) and substitution mutation (HbCS and HbE) were genotyped using multiplex gap-PCR and PCR-RFLP, respectively. Results In our malaria patients, 17/210 homozygous and 74/210 heterozygous −α3.7 deletion were found. Only 3/210 heterozygous −α4.2 and 2/210 heterozygous--SEA deletion were detected. HbE is frequently found with 6/210 homozygotes and 35/210 heterozygotes. The most common thalassemia allele frequencies in Myanmar population were −α3.7 deletion (0.282), followed by HbE (0.101), HbCS (0.013), −α4.2 deletion (0.009), and --SEA deletion (0.003). Only density of P. vivax in α-thalassemia trait patients (−α3.7/−α3.7, --SEA/αα, −α3.7/−α4.2) but not in silent α-thalassemia (−α3.7/αα, −α4.2/αα, ααCS/αα) were significantly higher compared with non-α-thalassemia patients (p=0.027). HbE did not affect P. vivax parasitemia. The density of P. falciparum significantly increased in heterozygous HbE patients (p=0.046). Conclusions Alpha-thalassemia trait is associated with high levels of P. vivax parasitemia in malaria patients in Southeast Asia.
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- 2018
6. Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population
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Christian O. Gualtieri, B S Sirima, Jean-François Trape, Alexandra Iliescu, Pratap Singhasivanon, Rebekah van Bruggen, Philippe Gros, David Modiano, Anavaj Sakuntabhai, Punchalee Mungkalasut, Chalisa Louicharoen Cheepsunthorn, Jean-François Bureau, Mark Lathrop, McGill University = Université McGill [Montréal, Canada], Chulalongkorn University [Bangkok], Paludologie afrotropicale, Institut de recherche pour le développement [Dakar, Sénégal] (IRD Hann Maristes), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Institut Pasteur, Fondation Cenci Bolognetti - Istituto Pasteur Italia, Fondazione Cenci Bolognetti, Réseau International des Instituts Pasteur (RIIP), Centre National de Recherche et de Formation sur le Paludisme [Ouagadougou, Burkina Faso] (CNRFP), Mahidol University [Bangkok], Génétique fonctionnelle des Maladies infectieuses - Functional Genetics of Infectious Diseases, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), This work was supported by research grants to PG from the Canadian Institutes for Health Research (MOP-119342) and funding to AS from the French Government’s Investissement d’Avenir program, Laboratoire d’Excellence 'Integrative Biology of Emerging Infectious Diseases' (grant No. ANR-10-LABX-62-IBEID)., ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], and Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)
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Erythrocytes ,Plasmodium vivax ,Gene Expression ,lcsh:Medicine ,Parasitemia ,Severity of Illness Index ,Plasmodium chabaudi ,Mice ,0302 clinical medicine ,Genotype ,Malaria, Falciparum ,lcsh:Science ,Mice, Knockout ,Genetics ,0303 health sciences ,Multidisciplinary ,Protein Stability ,Thailand ,Senegal ,3. Good health ,Phenotype ,030220 oncology & carcinogenesis ,malaria ,pyruvate kinase ,thai ,Disease Susceptibility ,Research Article ,Plasmodium falciparum ,Pyruvate Kinase ,Biology ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,parasitic diseases ,Malaria, Vivax ,medicine ,Animals ,Humans ,Amino Acid Sequence ,Allele ,030304 developmental biology ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,Base Sequence ,lcsh:R ,medicine.disease ,biology.organism_classification ,Malaria ,Amino Acid Substitution ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,lcsh:Q ,Sequence Alignment ,Pyruvate kinase - Abstract
International audience; Pyruvate kinase (PKLR) is a critical erythrocyte enzyme that is required for glycolysis and production of ATP. We have shown that Pklr deficiency in mice reduces the severity (reduced parasitemia, increased survival) of blood stage malaria induced by infection with Plasmodium chabaudi AS. Likewise, studies in human erythrocytes infected ex vivo with P. falciparum show that presence of host PK-deficiency alleles reduces infection phenotypes. We have characterized the genetic diversity of the PKLR gene, including haplotype structure and presence of rare coding variants in two populations from malaria endemic areas of Thailand and Senegal. We investigated the effect of PKLR genotypes on rich longitudinal datasets including haematological and malaria-associated phenotypes. A coding and possibly damaging variant (R41Q) was identified in the Thai population with a minor allele frequency of ~4.7%. Arginine 41 (R41) is highly conserved in the pyruvate kinase family and its substitution to Glutamine (R41Q) affects protein stability. Heterozygosity for R41Q is shown to be associated with a significant reduction in the number of attacks with Plasmodium falciparum, while correlating with an increased number of Plasmodium vivax infections. These results strongly suggest that PKLR protein variants may affect the frequency, and the intensity of malaria episodes induced by different Plasmodium parasites in humans living in areas of endemic malaria.
- Published
- 2015
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