2022
Moving towards malaria elimination with safer treatment for children with G6PD deficiency
Boum Y, Moukoko C, Parikh S. Moving towards malaria elimination with safer treatment for children with G6PD deficiency. The Lancet Infectious Diseases 2022, 23: 388-390. PMID: 36462525, DOI: 10.1016/s1473-3099(22)00724-1.Peer-Reviewed Original ResearchChildGlucosephosphate DehydrogenaseGlucosephosphate Dehydrogenase DeficiencyHumansMalariaMalaria, VivaxPrimaquineRepeatability and reproducibility of a handheld quantitative G6PD diagnostic
Ley B, Satyagraha A, Kibria MG, Armstrong J, Bancone G, Bei AK, Bizilj G, Brito M, Ding XC, Domingo GJ, von Fricken ME, Gornsawun G, Lam B, Menard D, Monteiro W, Ongarello S, Pal S, Panggalo LV, Parikh S, Pfeffer DA, Price RN, da Silva Orfano A, Wade M, Wojnarski M, Worachet K, Yar A, Alam MS, Howes RE. Repeatability and reproducibility of a handheld quantitative G6PD diagnostic. PLOS Neglected Tropical Diseases 2022, 16: e0010174. PMID: 35176015, PMCID: PMC8853557, DOI: 10.1371/journal.pntd.0010174.Peer-Reviewed Original ResearchBiosensing TechniquesFemaleFreeze DryingGlucosephosphate DehydrogenaseGlucosephosphate Dehydrogenase DeficiencyHumansPoint-of-Care TestingReproducibility of ResultsSpectrophotometryDonor genetic and non-genetic factors affecting red blood cell transfusion effectiveness
Roubinian NH, Reese SE, Qiao H, Plimier C, Fang F, Page GP, Cable RG, Custer B, Gladwin MT, Goel R, Harris B, Hendrickson JE, Kanias T, Kleinman S, Mast AE, Sloan SR, Spencer BR, Spitalnik SL, Busch MP, Hod EA. Donor genetic and non-genetic factors affecting red blood cell transfusion effectiveness. JCI Insight 2022, 7: e152598. PMID: 34793330, PMCID: PMC8765041, DOI: 10.1172/jci.insight.152598.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBlood DonorsErythrocyte TransfusionFemaleGlucosephosphate Dehydrogenase DeficiencyHemoglobinsHemolysisHumansMaleMiddle AgedRetrospective StudiesConceptsTransfusion effectivenessHemoglobin incrementsRBC transfusionG6PD deficiencyMulticenter retrospective studyRBC storage durationRBC unit transfusionPrecision medicine approachSubset of donorsTransfusion episodesTransfusion requirementsUnit transfusionRecipient factorsRetrospective studyRBC recipientsPatient outcomesRecipient characteristicsChild healthTransfusionVivo hemolysisTransfusion productsMedicine approachNon-genetic factorsOxidative hemolysisSingle nucleotide polymorphisms
2020
Quantification of glucose-6-phosphate dehydrogenase activity by spectrophotometry: A systematic review and meta-analysis
Pfeffer DA, Ley B, Howes RE, Adu P, Alam MS, Bansil P, Boum Y, Brito M, Charoenkwan P, Clements A, Cui L, Deng Z, Egesie OJ, Espino FE, von Fricken ME, Hamid MMA, He Y, Henriques G, Khan WA, Khim N, Kim S, Lacerda M, Lon C, Mekuria AH, Menard D, Monteiro W, Nosten F, Oo NN, Pal S, Palasuwan D, Parikh S, Pasaribu A, Poespoprodjo JR, Price DJ, Roca-Feltrer A, Roh ME, Saunders DL, Spring MD, Sutanto I, Ley-Thriemer K, Weppelmann TA, von Seidlein L, Satyagraha AW, Bancone G, Domingo GJ, Price RN. Quantification of glucose-6-phosphate dehydrogenase activity by spectrophotometry: A systematic review and meta-analysis. PLOS Medicine 2020, 17: e1003084. PMID: 32407380, PMCID: PMC7224463, DOI: 10.1371/journal.pmed.1003084.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAntimalarialsChildChild, PreschoolFemaleGlucosephosphate DehydrogenaseGlucosephosphate Dehydrogenase DeficiencyHumansInfantInfant, NewbornMalariaMaleMiddle AgedSpectrophotometryYoung AdultConceptsG6PD activity measurementsG6PD activityDiagnostic Accuracy Studies-2 toolDormant liver stagesRisk of biasGlucose-6-phosphate dehydrogenase deficiencyStudy-level heterogeneityNormal control samplesReference diagnostic methodInter-study variabilityGlucose-6-phosphate dehydrogenase activityMalaria patientsHaematological conditionsLiver stagesRadical cureP. ovalePlasmodium vivaxPubMed searchIntermediate deficiencySystematic reviewDiagnostic thresholdMale medianStudy participantsMedian activityDiagnostic implications
2019
Performance of the Access Bio/CareStart rapid diagnostic test for the detection of glucose-6-phosphate dehydrogenase deficiency: A systematic review and meta-analysis
Ley B, Satyagraha A, Rahmat H, von Fricken ME, Douglas NM, Pfeffer DA, Espino F, von Seidlein L, Henriques G, Oo NN, Menard D, Parikh S, Bancone G, Karahalios A, Price RN. Performance of the Access Bio/CareStart rapid diagnostic test for the detection of glucose-6-phosphate dehydrogenase deficiency: A systematic review and meta-analysis. PLOS Medicine 2019, 16: e1002992. PMID: 31834890, PMCID: PMC6910667, DOI: 10.1371/journal.pmed.1002992.Peer-Reviewed Original ResearchMeSH KeywordsDiagnostic Tests, RoutineEndemic DiseasesFemaleGlucosephosphate DehydrogenaseGlucosephosphate Dehydrogenase DeficiencyHumansMalariaMalaria, VivaxMalePoint-of-Care SystemsPrimaquineSensitivity and SpecificityConceptsNegative predictive valueGlucose-6-phosphate dehydrogenase deficiencyIndividual participant dataSystematic reviewHigh negative predictive valueDehydrogenase deficiencyRandom-effects bivariate modelPrevalence of G6PDdDrug-induced haemolysisCapillary blood samplesRapid diagnostic testsPositive likelihood ratioNegative likelihood ratioLikelihood ratioVivax malariaVenous bloodEndemic settingsInclusion criteriaPooled estimatesBlood samplesRadical curePredictive valueWide geographical representationMale medianRoutine setting
2016
Screening for Glucose-6-Phosphate Dehydrogenase Deficiency Using Three Detection Methods: A Cross-Sectional Survey in Southwestern Uganda.
Roh ME, Oyet C, Orikiriza P, Wade M, Mwanga-Amumpaire J, Boum Y, Kiwanuka GN, Parikh S. Screening for Glucose-6-Phosphate Dehydrogenase Deficiency Using Three Detection Methods: A Cross-Sectional Survey in Southwestern Uganda. American Journal Of Tropical Medicine And Hygiene 2016, 95: 1094-1099. PMID: 27672207, PMCID: PMC5094223, DOI: 10.4269/ajtmh.16-0552.Peer-Reviewed Original ResearchMeSH KeywordsChild, PreschoolCross-Sectional StudiesDiagnostic Tests, RoutineFemaleGene FrequencyGlucosephosphate DehydrogenaseGlucosephosphate Dehydrogenase DeficiencyHumansInfantMalariaMalaria, FalciparumMalaria, VivaxMalePoint-of-Care SystemsPrevalencePrimaquineRural PopulationSensitivity and SpecificityUgandaUrban PopulationConceptsG6PDd prevalenceGlucose-6-phosphate dehydrogenase deficiencyDehydrogenase deficiencySingle-dose primaquinePlasmodium falciparum transmissionSouthwestern UgandaPlasmodium ovale infectionNegative predictive valueMonths of ageCross-sectional surveyViable screening testOvale infectionsDiagnostic modalitiesStandard quantitative assayLow prevalenceRadical curePlasmodium vivaxPredictive valueSectional surveyCare testScreening testPrevalenceSevere deficiencyPrimaquineEnzyme activity
2009
Impact of the Method of G6PD Deficiency Assessment on Genetic Association Studies of Malaria Susceptibility
Johnson MK, Clark TD, Njama-Meya D, Rosenthal PJ, Parikh S. Impact of the Method of G6PD Deficiency Assessment on Genetic Association Studies of Malaria Susceptibility. PLOS ONE 2009, 4: e7246. PMID: 19789650, PMCID: PMC2748715, DOI: 10.1371/journal.pone.0007246.Peer-Reviewed Original ResearchMeSH KeywordsAllelesChildChild, PreschoolCohort StudiesDisease SusceptibilityFemaleGenetic Association StudiesGlucosephosphate DehydrogenaseGlucosephosphate Dehydrogenase DeficiencyHeterozygoteHumansInfantMalariaMaleRisk
2007
A case of concomitant autosomal recessive osteopetrosis and G6PD deficiency
Montazeri F, Montazeri G, Bedayat A, Sedighi N. A case of concomitant autosomal recessive osteopetrosis and G6PD deficiency. Annals Of Hematology 2007, 87: 333-335. PMID: 17940770, DOI: 10.1007/s00277-007-0392-5.Peer-Reviewed Original ResearchBrainGlucosephosphate Dehydrogenase DeficiencyHumansInfantMaleOsteopetrosisTomography, X-Ray ComputedErythrocyte Disorders in the Perinatal Period
Steiner LA, Gallagher PG. Erythrocyte Disorders in the Perinatal Period. Seminars In Perinatology 2007, 31: 254-261. PMID: 17825683, PMCID: PMC2098040, DOI: 10.1053/j.semperi.2007.05.003.Peer-Reviewed Original ResearchAnemiaErythrocytesGlucosephosphate Dehydrogenase DeficiencyHematologic DiseasesHemoglobinopathiesHumansInfant, NewbornPyruvate Kinase
2004
Host polymorphisms and the incidence of malaria in Ugandan children.
PARIKH S, Dorsey G, ROSENTHAL PJ. Host polymorphisms and the incidence of malaria in Ugandan children. American Journal Of Tropical Medicine And Hygiene 2004, 71: 750-3. PMID: 15642965, DOI: 10.4269/ajtmh.2004.71.750.Peer-Reviewed Original ResearchMeSH KeywordsChild, PreschoolFemaleGlucosephosphate Dehydrogenase DeficiencyHumansIncidenceInfantMalariaMaleNitric Oxide SynthaseNitric Oxide Synthase Type IIPolymorphism, GeneticPromoter Regions, GeneticSickle Cell TraitTumor Necrosis Factor-alphaUgandaConceptsInducible nitric oxide synthaseWild-type childrenUgandan childrenLower incidenceHost polymorphismsParasite densityNitric oxide synthaseLow parasite densitiesIncidence of malariaHigh parasite densitySymptomatic malariaUncomplicated malariaTumor necrosisIncidence rateOxide synthaseHigh incidencePromoter polymorphismGlucose-6-phosphate dehydrogenase AMale hemizygotesMalariaIncidencePreventative measuresGlucose-6-phosphate dehydrogenaseSickle hemoglobinDehydrogenase A
1998
Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiency
Li P, Thompson J, Wang X, Song L. Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiency. IUBMB Life 1998, 46: 1135-1143. PMID: 9891846, DOI: 10.1080/15216549800204692.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SubstitutionAsian PeopleBase SequenceChinaDinucleotide RepeatsFemaleGenetic MarkersGlucosephosphate DehydrogenaseGlucosephosphate Dehydrogenase DeficiencyHaplotypesHumansMalePoint MutationPolymorphism, GeneticWhite PeopleConceptsCommon mutationsSingle nucleotide polymorphismsPolymorphism lociDifferent allelic distributionFurther haplotype analysisDifferent haplotypesNucleotide polymorphismsMutationsDNA samplesAllelic associationPossible allelic associationLociHaplotype analysisAllelic distributionHaplotypesDehydrogenase deficiencyGlucose-6-phosphate dehydrogenase deficiencyFingerprinting method
1990
X-Chromosome Markers and Manic-Depressive Illness: Rejection of Linkage to Xq28 in Nine Bipolar Pedigrees
Berrettini WH, Goldin LR, Gelernter J, Gejman PV, Gershon ES, Detera-Wadleigh S. X-Chromosome Markers and Manic-Depressive Illness: Rejection of Linkage to Xq28 in Nine Bipolar Pedigrees. JAMA Psychiatry 1990, 47: 366-373. PMID: 2322087, DOI: 10.1001/archpsyc.1990.01810160066010.Peer-Reviewed Original ResearchMeSH KeywordsBipolar DisorderChromosome MappingColor Vision DefectsDNA ProbesFemaleGenetic LinkageGenetic MarkersGlucosephosphate Dehydrogenase DeficiencyHumansLod ScoreMaleModels, GeneticPedigreeX ChromosomeConceptsManic-depressive illness
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