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https://www.readbyqxmd.com/read/28322460/dapsone-induced-agranulocytosis-possible-involvement-of-low-activity-n-acetyltransferase-2
#1
Ines Potočnjak, Robert Likić, Iveta Šimić, Danica Juričić Nahal, Ivana Čegec, Lana Ganoci, Nada Božina
Dapsone-induced agranulocytosis is a rare but potentially fatal adverse drug reaction (ADR). A 45-year old male Caucasian patient developed agranulocytosis caused by dapsone (diamino-diphenyl sulfone) which he was prescribed for leukocytoclastic vasculitis. Patient's treatment consisted of termination of dapsone, antibiotic therapy, and granulocyte colony stimulating factor leading to prompt improvement of symptoms and normalization of laboratory blood values. Diagnostic evaluation revealed methemoglobinemia and excluded glucose-6-phosphate dehydrogenase (G6PD) deficiency...
March 21, 2017: Fundamental & Clinical Pharmacology
https://www.readbyqxmd.com/read/28318100/abrogation-of-red-blood-cell-g6pd-enzyme-activity-through-heat-treatment-development-of-survey-material-for-the-uk-neqas-g6pd-scheme
#2
D R Roper, B De la Salle, V Soni, K Fletcher, J A Green
INTRODUCTION: Participation in external quality assessment (EQA) is central to the maintenance of high-quality laboratory results in patient diagnosis and clinical trials. Laboratories in the TAF112582 DETECTIVE study (ClinicalTrials.gov identifier: NCT01376167) are enrolled in the United Kingdom National Quality Assessment Scheme (UK NEQAS) for glucose-6-phosphate dehydrogenase (G6PD) quantitative assay, which utilizes ovine (sheep) blood as a readily available source of apparently G6PD-deficient survey material...
March 20, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28297664/coupling-between-protein-stability-and-catalytic-activity-determines-pathogenicity-of-g6pd-variants
#3
Anna D Cunningham, Alexandre Colavin, Kerwyn Casey Huang, Daria Mochly-Rosen
G6PD deficiency, an enzymopathy affecting 7% of the world population, is caused by over 160 identified amino acid variants in glucose-6-phosphate dehydrogenase (G6PD). The clinical presentation of G6PD deficiency is diverse, likely due to the broad distribution of variants across the protein and the potential for multidimensional biochemical effects. In this study, we use bioinformatic and biochemical analyses to interpret the relationship between G6PD variants and their clinical phenotype. Using structural information and statistical analyses of known G6PD variants, we predict the molecular phenotype of five uncharacterized variants from a reference population database...
March 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/28279180/primaquine-thiazolidinones-block-malaria-transmission-and-development-of-the-liver-exoerythrocytic-forms
#4
Anna Caroline C Aguiar, Flávio Jr B Figueiredo, Patrícia D Neuenfeldt, Tony H Katsuragawa, Bruna B Drawanz, Wilson Cunico, Photini Sinnis, Fidel Zavala, Antoniana U Krettli
BACKGROUND: Primaquine is an anti-malarial used to prevent Plasmodium vivax relapses and malaria transmission. However, PQ metabolites cause haemolysis in patients deficient in the enzyme glucose-6-phosphate dehydrogenase (G6PD). Fifteen PQ-thiazolidinone derivatives, synthesized through one-post reactions from primaquine, arenealdehydes and mercaptoacetic acid, were evaluated in parallel in several biological assays, including ability to block malaria transmission to mosquitoes. RESULTS: All primaquine derivatives (PQ-TZs) exhibited lower cell toxicity than primaquine; none caused haemolysis to normal or G6PD-deficient human erythrocytes in vitro...
March 9, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28260773/assessment-of-variations-in-oxidative-stress-in-newborns-from-caesarian-and-normal-delivery-based-on-apgar-score
#5
M Sinharay, I Chakraborty, A Dasgupta, P Chakraborty
Fetal distress seems to be strongly related to fetal hypoxia, which is known to cause derangement of the balance between pro-oxidant and anti-oxidant factors by depleting the antioxidant reserve and increasing oxidative stress. Reduced Apgar score signify the fetal distress in postpartum period. The current study explores the severity of oxidative stress and nitrosative stress markers along with the antioxidant status in the cord blood of the newborns with low Apgar score (Group 1), fairly low Apgar score (Group 2) and normal Apgar score (Group 3) in both categories born by Cesarean section (CS) and Normal delivery (ND)...
January 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28258653/comparison-of-quantitative-and-qualitative-tests-for-glucose-6-phosphate-dehydrogenase-deficiency-in-the-neonatal-period
#6
F Keihanian, S Basirjafari, B Darbandi, A Saeidinia, M Jafroodi, R Sharafi, M Shakiba
INTRODUCTION: Considering the high prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among newborns, different screening methods have been established in various countries. In this study, we aimed to assess the prevalence of G6PD deficiency among newborns in Rasht, Iran, and compare G6PD activity in cord blood samples, using quantitative and qualitative tests. METHODS: This cross-sectional, prospective study was performed at five largest hospitals in Rasht, Guilan Province, Iran...
March 4, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28257891/combined-metabolic-and-transcriptional-profiling-identifies-pentose-phosphate-pathway-activation-by-hsp27-phosphorylation-during-cerebral-ischemia
#7
Taichiro Imahori, Kohkichi Hosoda, Tomoaki Nakai, Yusuke Yamamoto, Yasuhiro Irino, Masakazu Shinohara, Naoko Sato, Takashi Sasayama, Kazuhiro Tanaka, Hiroaki Nagashima, Masaaki Kohta, Eiji Kohmura
The metabolic pathophysiology underlying ischemic stroke remains poorly understood. To gain insight into these mechanisms, we performed a comparative metabolic and transcriptional analysis of the effects of cerebral ischemia on the metabolism of the cerebral cortex using middle cerebral artery occlusion (MCAO) rat model. Metabolic profiling by gas-chromatography/mass-spectrometry analysis showed clear separation between the ischemia and control group. The decreases of fructose 6-phosphate and ribulose 5-phosphate suggested enhancement of the pentose phosphate pathway (PPP) during cerebral ischemia (120-min MCAO) without reperfusion...
March 6, 2017: Neuroscience
https://www.readbyqxmd.com/read/28251317/crispr-cas9-mediated-gene-editing-in-human-zygotes-using-cas9-protein
#8
Lichun Tang, Yanting Zeng, Hongzi Du, Mengmeng Gong, Jin Peng, Buxi Zhang, Ming Lei, Fang Zhao, Weihua Wang, Xiaowei Li, Jianqiao Liu
Previous works using human tripronuclear zygotes suggested that the clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 system could be a tool in correcting disease-causing mutations. However, whether this system was applicable in normal human (dual pronuclear, 2PN) zygotes was unclear. Here we demonstrate that CRISPR/Cas9 is also effective as a gene-editing tool in human 2PN zygotes. By injection of Cas9 protein complexed with the appropriate sgRNAs and homology donors into one-cell human embryos, we demonstrated efficient homologous recombination-mediated correction of point mutations in HBB and G6PD...
March 1, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28224194/mycoepoxydiene-suppresses-hela-cell-growth-by-inhibiting-glycolysis-and-the-pentose-phosphate-pathway
#9
Kehua Jin, Li Li, Xihuan Sun, Qingyan Xu, Siyang Song, Yuemao Shen, Xianming Deng
Upregulation of glycolysis and the pentose phosphate pathway (PPP) is a major characteristic of the metabolic reprogramming of cancer and provides cancer cells with energy and vital metabolites to support their rapid proliferation. Targeting glycolysis and the PPP has emerged as a promising antitumor therapeutic strategy. Marine natural products are attractive sources for anticancer therapeutics, as evidenced by the antitumor drug Yondelis. Mycoepoxydiene (MED) is a natural product isolated from a marine fungus that has shown promising inhibitory efficacy against HeLa cells in vitro...
February 21, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28223188/next-generation-sequencing-unravels-homozygous-mutation-in-glucose-6-phosphate-isomerase-gpic-1040g-a-p-arg347his-causing-hemolysis-in-an-indian-infant
#10
Manu Jamwal, Anu Aggarwal, Anirban Das, Arindam Maitra, Prashant Sharma, Shekhar Krishnan, Neeraj Arora, Deepak Bansal, Reena Das
INTRODUCTION: Inherited anemias diagnostic workup requires a step-wise algorithm. Causal genes implicated in congenital hemolytic anemia are numerous, making a gene-by-gene approach by Sanger sequencing time consuming, expensive and labour intensive. Targeted resequencing can be of great use in explaining these cases. METHODOLOGY: Six months female presented with neonatal jaundice and negative family history. Clinical and laboratory evidences were suggestive of hemolytic anemia...
February 20, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28222982/ecotoxicological-assessment-of-cobalt-using-hydra-model-ros-oxidative-stress-dna-damage-cell-cycle-arrest-and-apoptosis-as-mechanisms-of-toxicity
#11
Mohammed Zeeshan, Anbazhagan Murugadas, Surendra Ghaskadbi, Babu Rajendran Ramaswamy, Mohammad Abdulkader Akbarsha
The mechanisms underlying cobalt toxicity in aquatic species in general and cnidarians in particular remain poorly understood. Herein we investigated cobalt toxicity in a Hydra model from morphological, histological, developmental, and molecular biological perspectives. Hydra, exposed to cobalt (0-60 mg/L), were altered in morphology, histology, and regeneration. Exposure to standardized sublethal doses of cobalt impaired feeding by affecting nematocytes, which in turn affected reproduction. At the cellular level, excessive ROS generation, as the principal mechanism of action, primarily occurred in the lysosomes, which was accompanied by the upregulation of expression of the antioxidant genes SOD, GST, GPx, and G6PD...
February 17, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28220806/on-the-long-term-stability-of-clines-in-some-metabolic-genes-in-drosophila-melanogaster
#12
Rodrigo Cogni, Kate Kuczynski, Spencer Koury, Erik Lavington, Emily L Behrman, Katherine R O'Brien, Paul S Schmidt, Walter F Eanes
Very little information exists for long-term changes in genetic variation in natural populations. Here we take the unique opportunity to compare a set of data for SNPs in 15 metabolic genes from eastern US collections of Drosophila melanogaster that span a large latitudinal range and represent two collections separated by 12 to 13 years. We also expand this to a 22-year interval for the Adh gene and approximately 30 years for the G6pd and Pgd genes. During these intervals, five genes showed a statistically significant change in average SNP allele frequency corrected for latitude...
February 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28214533/the-effect-and-mechanism-of-inhibiting-glucose-6-phosphate-dehydrogenase-activity-on-the-proliferation-of-plasmodium-falciparum
#13
Zhiqiang Zhang, Xiaodan Chen, Chengrui Jiang, Zishui Fang, Yi Feng, Weiying Jiang
We screened >40,000 patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency and found that the G6PD Kaiping allele was under the most positive selection for fighting against malaria in the Chinese population. However, the mechanism is unknown. The current study was designed to investigate the anti-malarial effect and mechanism of G6PD deficiency. Dehydroepiandrosterone (DHEA) was utilised for inhibiting the G6PD activity of erythrocytes. Giemsa staining of blood smears and quantitative real-time PCR were used for the detection and quantification of Plasmodium falciparum infection...
May 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28208930/precautionary-measures-for-successful-open-heart-surgery-in-g6pd-deficient-patient-a-case-report
#14
Rupesh Kumar
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is among the most common enzymatic disorders of red blood cells. Cardiac surgeries on this group of individuals are associated with an additional risk in terms of impaired oxygenation, prolonged ventilation and increased risk of haemolysis. These patients have a very low threshold for haemolysis due to oxidative stress. Many commonly used drugs also predispose the individual for haemolysis when they are subjected to surgery. Here we present a known case of G6PD deficient patient with symptoms of breathlessness for the last nine years who was taken for surgery with pre-planned precautionary measures to avoid unnecessary haemolysis...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28197721/glucose-6-phosphate-dehydrogenase-deficiency-and-risk-of-diabetes-a-systematic-review-and-meta-analysis
#15
Yin Key Lai, Nai Ming Lai, Shaun Wen Huey Lee
Emerging epidemiological evidence suggests that patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency may have a higher risk of developing diabetes. The aim of the review was to synthesise the evidence on the association between G6PD deficiency and diabetes. A systematic search on Medline, EMBASE, AMED and CENTRAL databases for studies published between January 1966 and September 2016 that assessed the association between G6PD deficiency and diabetes was conducted. This was supplemented by a review of the reference list of retrieved articles...
February 14, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28195434/a-patient-with-both-methemoglobinemia-and-g6pd-deficiency-a-therapeutic-conundrum
#16
N Scott Reading, José A Ruiz-Bonilla, Robert D Christensen, William Cáceres-Perkins, Josef T Prchal
No abstract text is available yet for this article.
February 13, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28185390/oxidative-stress-as-a-damage-mechanism-in-porcine-cumulus-oocyte-complexes-exposed-to-malathion-during-in-vitro-maturation
#17
Diana Flores, Verónica Souza, Miguel Betancourt, Mario Teteltitla, Humberto González-Márquez, Eduardo Casas, Edmundo Bonilla, Patricia Ramírez-Noguera, María Concepción Gutiérrez-Ruíz, Yvonne Ducolomb
Malathion is one of the most commonly used insecticides. Recent findings have demonstrated that it induces oxidative stress in somatic cells, but there are not enough studies that have demonstrated this effect in germ cells. Malathion impairs porcine oocyte viability and maturation, but studies have not shown how oxidative stress damages maturation and which biochemical mechanisms are affected in this process in cumulus-oocyte complexes (COCs). The aims of the present study were to determine the amount of oxidative stress produced by malathion in porcine COCs matured in vitro, to define how biochemical mechanisms affect this process, and determine whether trolox can attenuate oxidative damage...
February 10, 2017: Environmental Toxicology
https://www.readbyqxmd.com/read/28170391/haemolysis-in-g6pd-heterozygous-females-treated-with-primaquine-for-plasmodium-vivax-malaria-a-nested-cohort-in-a-trial-of-radical-curative-regimens
#18
Cindy S Chu, Germana Bancone, Kerryn A Moore, Htun Htun Win, Niramon Thitipanawan, Christina Po, Nongnud Chowwiwat, Rattanaporn Raksapraidee, Pornpimon Wilairisak, Aung Pyae Phyo, Lily Keereecharoen, Stéphane Proux, Prakaykaew Charunwatthana, François Nosten, Nicholas J White
BACKGROUND: Radical cure of Plasmodium vivax malaria with 8-aminoquinolines (primaquine or tafenoquine) is complicated by haemolysis in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. G6PD heterozygous females, because of individual variation in the pattern of X-chromosome inactivation (Lyonisation) in erythroid cells, may have low G6PD activity in the majority of their erythrocytes, yet are usually reported as G6PD "normal" by current phenotypic screening tests...
February 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28155819/modelling-primaquine-induced-haemolysis-in-g6pd-deficiency
#19
James Watson, Walter Rj Taylor, Didier Menard, Sim Kheng, Nicholas J White
Primaquine is the only drug available to prevent relapse in vivax malaria. The main adverse effect of primaquine is erythrocyte age and dose-dependent acute haemolytic anaemia in individuals with glucose-6-phosphate dehydrogenase deficiency (G6PDd). As testing for G6PDd is often unavailable, this limits the use of primaquine for radical cure. A compartmental model of the dynamics of red blood cell production and destruction was designed to characterise primaquine-induced haemolysis using a holistic Bayesian analysis of all published data and was used to predict a safer alternative to the currently recommended once weekly 0...
February 4, 2017: ELife
https://www.readbyqxmd.com/read/28155142/single-cell-cytochemistry-illustrated-by-the-demonstration-of-glucose-6-phosphate-dehydrogenase-deficiency-in-erythrocytes
#20
Anna L Peters, Cornelis J F van Noorden
Cytochemistry is the discipline that is applied to visualize specific molecules in individual cells and has become an essential tool in life sciences. Immunocytochemistry was developed in the sixties of last century and is the most frequently used cytochemical application. However, metabolic mapping is the oldest cytochemical approach to localize activity of specific enzymes, but in the last decades of the previous century and the first decade of the present century it almost became obsolete. The popularity of this approach revived in the past few years...
2017: Methods in Molecular Biology
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