Search results for "Doxa"

showing 10 items of 68 documents

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

2019

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating sc…

0301 basic medicineMale[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyLOCAL TRANSLATIONMedizinmedicine.disease_causeDISEASEchemistry.chemical_compound0302 clinical medicinepolineuropathyCinètica enzimàticaGene Regulatory NetworksPyridoxal phosphateChildPyridoxal KinaseAdenosine triphosphate (ATP)Research ArticlesAged 80 and overMutationGene Regulatory NetworkPLASMAAutosomal recessive axonal polyneuropathyDisease gene identificationPyridoxal kinase3. Good healthSettore MED/26 - NEUROLOGIANeuropaties perifèriquesTreatment OutcomePolyneuropathieNeurologyChild PreschoolPyridoxal PhosphateRELIABILITYVitamin B ComplexFemaleLife Sciences & BiomedicinePolyneuropathyHumanResearch ArticleAdultAdolescentPDXKClinical NeurologyCHARCOT-MARIE-TOOTHCHARCOT-MARIE-TOOTH CMT NEUROPATHY SCORE LOCAL TRANSLATION DISEASE RELIABILITY; MECHANISMS DISCOVERY FRAMEWORK KINASE PLASMAMECHANISMS03 medical and health sciencesPolyneuropathiesAtrophy[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]KINASEmedicineHumansCMT NEUROPATHY SCOREPDXK mutationsPyridoxalDietary SupplementAgedPeripheral neuropathiesScience & Technology[SCCO.NEUR]Cognitive science/NeuroscienceEnzyme kineticsNeurosciencesFRAMEWORKmedicine.diseaseMolecular biology030104 developmental biologychemistryDISCOVERYDietary SupplementsMutationNeurosciences & NeurologyNeurology (clinical)Adenosine triphosphate030217 neurology & neurosurgeryAnnals of Neurology
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Effect of Omega-3 and Vitamins E + C Supplements on the Concentration of Serum B-Vitamins and Plasma Redox Aminothiol Antioxidant Status in Elderly M…

2015

<b><i>Background:</i></b> Data on redox plasma aminothiol status in individuals on strength training are very limited. Therefore, we studied the effect of omega-3 and vitamins E + C supplementation on the concentration of B-vitamins and redox aminothiol status in elderly men after strength training for 3 months. <b><i>Methods:</i></b> Healthy men, age 60 ± 6 (mean ± SD) were randomly divided into 3 groups: group I received placebo (n = 17), group II consumed omega-3 (700 mg, n = 17), and group III consumed vitamins E + C (235 mg +1 g, n = 16) daily for 3 months. All participants completed a strength training program for the same period. <b&…

0301 basic medicineMalemedicine.medical_specialtyAntioxidantPyridoxalStrength trainingmedicine.medical_treatmentMedicine (miscellaneous)Ascorbic Acid030204 cardiovascular system & hematologyPlaceboAntioxidants03 medical and health scienceschemistry.chemical_compound0302 clinical medicineFolic AcidInternal medicineFatty Acids Omega-3medicineHumansVitamin ESulfhydryl CompoundsPyridoxalAgedNutrition and DieteticsVitamin EResistance TrainingVitaminsMiddle AgedAscorbic acidUric AcidB vitaminsVitamin B 12030104 developmental biologyEndocrinologyBiochemistrychemistryDietary SupplementsVitamin B ComplexUric acidAnnals of nutritionmetabolism
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Determinants of the Quality of Warfarin Control after Venous Thromboembolism and Validation of the SAMe-TT2-R2 Score: An Analysis of Hokusai-VTE.

2019

Background Time in therapeutic range (TTR) measures the quality of vitamin K antagonist (VKA) anticoagulation. In patients with atrial fibrillation, the dichotomized SAMe-TT2-R2 score (≥2 vs. < 2 points) can predict if adequate TTR is unlikely to be achieved. Aims We validated the SAMe-TT2-R2 score in patients with venous thromboembolism (VTE) randomized to the warfarin arm of the Hokusai-VTE trial. Patients and Methods A total of 3,874 patients were included in the primary analysis (day 31–180 from randomization). The efficacy and safety outcomes were symptomatic recurrent VTE and major or clinically relevant non-major bleeding. Results The rates of recurrent VTE and bleeding events we…

0301 basic medicineMalevitamin K antagonistEXTERNAL VALIDATIONTime FactorsVitamin KWarfarin/therapeutic use030204 cardiovascular system & hematologyTHERAPYSeverity of Illness Indexlaw.inventionchemistry.chemical_compound0302 clinical medicineRandomized controlled trialEdoxabanlawRecurrenceAtrial FibrillationVitamin K/antagonists & inhibitorsStrokeRISKAtrial fibrillationHematologyVenous ThromboembolismVitamin K antagonistMiddle Agedrisk assessment modelTIMEPREDICTSTreatment OutcomeAnticoagulants/therapeutic useResearch DesignANTICOAGULATION CONTROLFemaleLife Sciences & Biomedicinemedicine.drugHemorrhage/drug therapyAdultmedicine.medical_specialtyRandomizationmedicine.drug_classvenous thromboembolismHemorrhageRisk AssessmentSensitivity and SpecificityEDOXABAN03 medical and health sciencesDouble-Blind MethodVITAMIN-K ANTAGONISTSInternal medicinemedicineNONVALVULAR ATRIAL-FIBRILLATIONORAL ANTICOAGULANTHumansInternational Normalized RatioBlood CoagulationScience & Technologybusiness.industryquality of treatmentWarfarinAnticoagulantsmedicine.diseasewarfarinClinical trial030104 developmental biologyPeripheral Vascular DiseasechemistryBlood Coagulation/drug effectsAtrial Fibrillation/bloodCardiovascular System & CardiologyLinear ModelsWarfarinbusinessVenous Thromboembolism/drug therapyThrombosis and haemostasis
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Structural Analysis of Phosphoserine Aminotransferase (Isoform 1) From Arabidopsis thaliana– the Enzyme Involved in the Phosphorylated Pathway of Ser…

2018

Phosphoserine aminotransferase (PSAT) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes the conversion of 3-phosphohydroxypyruvate (3-PHP) to 3-phosphoserine (PSer) in an L-glutamate (Glu)-linked reversible transamination reaction. This process proceeds through a bimolecular ping-pong mechanism and in plants takes place in plastids. It is a part of the phosphorylated pathway of serine biosynthesis, one of three routes recognized in plant organisms that yield serine. In this three-step biotransformation, 3-phosphoglycerate (3-PGA) delivered from plastidial glycolysis and Calvin cycle is oxidized by 3-PGA dehydrogenase. Then, 3-PHP is subjected to transamination with Glu to yi…

0301 basic medicineTransaminationpyridoxal 5′-phosphategeminal diaminePSATPlant Sciencelcsh:Plant cultureCofactorPLPSerine03 medical and health scienceschemistry.chemical_compoundBiosynthesisTransferaselcsh:SB1-1110Phosphoserine AminotransferaseOriginal Researchchemistry.chemical_classificationtransaminasebiologyserine metabolismPhosphoserine phosphatase030104 developmental biologychemistryBiochemistrybiology.proteinPhosphorylationFrontiers in Plant Science
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Elevated plasma total homocysteine in centenarians

2004

Homocysteine (Hcy) is a sulfur-containing metabolite of methionine and is an emerging independent risk factor for atherosclerosis. Previous studies have shown that age, gender, renal function and folic acid intake are the main factors influencing total plasma Hcy levels in humans. A unique approach to the science of human longevity is the natural model of centenarians. The objective of this study was to verify whether the previously determined risk factors for atherosclerosis and atherosclerosis-related diseases change with age and, finally, to establish the vitamin nutritional status role. We studied 54 centenarians (14 males and 40 females) aged between 100-107 years (mean age 102.6+/-1.8…

AdultMaleGerontologyVitaminmedicine.medical_specialtyHomocysteineClinical BiochemistryRenal functionBiologychemistry.chemical_compoundFolic AcidInternal medicineBlood plasmamedicineHumansVitamin B12Risk factorAgedAged 80 and overCreatinineMethionineHomocystineBiochemistry (medical)General MedicineMiddle AgedCreatineVitamin B 12EndocrinologychemistryPyridoxal PhosphateRegression AnalysisFemaleClinical Chemistry and Laboratory Medicine (CCLM)
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Scanning electron microscopic and X ray microanalysis study of the mineral deposits in pseudoxanthoma elasticum.

1977

A skin biopsy of a 37 year old man with typical lesions of pseudoxanthoma clasticum (P.E.) associated with angioid streaks (Groenblad-Strandberg Syndrom) was examined with a scanning E. M. (SEM) and a SEM provided with a X ray micro-analyser. The SEM provided with X ray microanalyser enabled us to see the correspondence between the crystalline deposits and a calcium salt. The potassium, sodium and magnesium analysis of the specimen permits us to verify that the P.E. dermis is rich in K and poor in Mg.

AdultMaleMineralScanning electron microscopeMagnesiumMicrochemistryX-RaysX-rayAnalytical chemistrychemistry.chemical_elementDermatologyGeneral Medicinemedicine.diseasePseudoxanthoma elasticumX ray microanalysisAngioid streakschemistrymedicineMicroscopy Electron ScanningHumansCalciumPseudoxanthoma ElasticumSkinArchives for dermatological research = Archiv fur dermatologische Forschung
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La dialettica dimenticata. La topica aristotelica nel dibattito contemporaneo

Aristotele dialettica endoxa topos argomentazioneSettore M-FIL/05 - Filosofia E Teoria Dei Linguaggi
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The role of nutrients in the biodegradation of 2,4,6-trinitrotoluene in liquid and soil.

2011

The widely used explosive 2,4,6-trinitrotoluene (TNT) has residues that are potentially explosive, toxic, and mutagenic. TNT and other explosives can be degraded by microorganisms; however, biostimulation is needed for process efficiency. To investigate the effectiveness of using biostimulation to degrade TNT, we added varying concentrations of a nutrient amendment consisting of inorganic salts, plant extracts, and molasses to soil and liquid media. For the inoculum we used a consortium of bacteria AM 06 that had exhibited the ability to degrade TNT and which had been previously isolated from explosives-contaminated soils. Phylogenetically, the clones clustered into seven different genera: …

BioaugmentationEnvironmental EngineeringMicroorganismMicrobial ConsortiaAmendmentManagement Monitoring Policy and LawBiostimulationBioremediationPseudoxanthomonasTrinitrotolueneSoil PollutantsMolassesFertilizersWaste Management and DisposalbiologyChemistryPlant ExtractsEnvironmental engineeringGeneral MedicineBiodegradationmusculoskeletal systembiology.organism_classificationCulture MediaBiodegradation EnvironmentalEnvironmental chemistrySaltsWater Pollutants ChemicalTrinitrotolueneJournal of environmental management
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Zur Beeinflussung dekarboxylase-abh�ngiger Stoffwechselst�rungen durch Pyridoxal-5-phosphat

1966

Blood Chemical AnalysisPyridoxal 5-PhosphateBiochemistryChemistryGeneral MedicineEcology Evolution Behavior and SystematicsDie Naturwissenschaften
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NEUROCHEMICAL STUDIES WITH L-CYCLOSERINE, A CENTRAL DEPRESSANT AGENT.

1963

CerebellumCarboxy-LyasesThalamusCaudate nucleusPharmacologyBiochemistryAminobutyric acidCellular and Molecular Neurosciencechemistry.chemical_compoundMiceNeurochemicalThalamusMesencephalonCerebellummedicineAnimalsPyridoxal phosphateEnzyme InhibitorsTransaminasesCerebral CortexPharmacologyAminobutyratesResearchCycloserineBrainNeurochemistryElectrophysiologymedicine.anatomical_structurechemistryCerebral cortexCycloserinePyridoxal PhosphateCaudate Nucleusmedicine.drugBrain StemJournal of neurochemistry
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