Search results for "Vitamin B Complex"

showing 10 items of 23 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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Wernicke-Korsakoff syndrome complicated by subacute beriberi neuropathy in an alcoholic patient.

2017

Thiamine (vitamin B1) deficiency is a common condition in alcohol abusers, which can lead to damage of both the peripheral and the central nervous systems. Here we describe the case of an alcoholic patient who presented with acute onset of ataxia, severe weakness of the four limbs, and hypoesthesia and dysesthesia of the distal portion of the upper and lower extremities. The clinical picture also included mental confusion and amnesia. A diagnosis of Wernicke-Korsakoff syndrome was made based on clinical symptoms and brain RMI findings. Electromyography and electroneurography revealed signs of subacute axonal sensory-motor polyneuropathy that were compatible with a rare acute presentation of…

0301 basic medicineMalemedicine.medical_specialtyPediatricsAtaxiaBeriberiWernicke's encephalopathyAlcoholic NeuropathyBeriberi03 medical and health sciences0302 clinical medicinemedicineHumansKorsakoff's syndromeWernicke's encephalopathy030109 nutrition & dieteticsWernicke–Korsakoff syndromeDysesthesiabusiness.industryfood and beveragesGeneral MedicineMiddle Agedmedicine.diseaseSurgeryAlcoholismKorsakoff SyndromeThiamine deficiencyVitamin B ComplexThiamineSurgeryNeurology (clinical)medicine.symptombusinessKorsakoff's syndromePolyneuropathy030217 neurology & neurosurgeryVitamin B1Clinical neurology and neurosurgery
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Relationship between adipic acid concentration and the core symptoms of autism spectrum disorders.

2016

Dicarboxylic acids are an important source of information about metabolism and potential physiopathological alterations in children with autism spectrum disorders (ASDs). We measured the concentration between dicarboxylic adipic and suberic acids in children with an ASD and typically-developing (TD) children and analyzed any relationships between the severity of the core symptoms of ASDs and other clinical features (drugs, supplements, drugs, or diet). The core symptoms of autism were evaluated using the DSM-IV criteria, and adipic acid and suberic acid were measured in urine samples. Overall, no increase in the concentration of adipic acid in children with ASDs compared to TD children, how…

0301 basic medicineVitamin bMalePediatricsmedicine.medical_specialtyAdolescentAutism Spectrum DisorderAdipatesUrinebehavioral disciplines and activitiesSeverity of Illness Index03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicinemental disordersmedicineHumansDicarboxylic AcidsChildBiological PsychiatryAdipic acidbusiness.industrySignificant differenceMetabolismmedicine.diseaseDiagnostic and Statistical Manual of Mental DisordersPsychiatry and Mental health030104 developmental biologyEndocrinologychemistryCase-Control StudiesChild PreschoolDietary SupplementsVitamin B ComplexAutismFemaleCore symptomsCaprylatesbusinessSuberic acid030217 neurology & neurosurgeryPsychiatry research
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Influence of green and black tea on folic acid pharmacokinetics in healthy volunteers: potential risk of diminished folic acid bioavailability

2008

Previous in vitro studies using Caco-2 cell monolayers suggested a possible interaction between green and black tea and folic acid at the level of intestinal absorption. The main purpose of the present study was to investigate a possible pharmacokinetic interaction between tea and folic acid in healthy volunteers. In an open-labeled randomized cross-over study, the pharmacokinetic interaction between tea and folic acid (0.4 mg and 5 mg) was investigated in healthy volunteers. Water was used as the reference drink. Subjects ingested 0.4 mg folic acid tablets with water, green or black tea (0.3 g extract/250 ml) or 5 mg folic acid tablets with water or green tea (0.3 g extract/250 ml). Blood …

AdultMaleBiological AvailabilityPharmaceutical SciencePharmacologyIntestinal absorptionFood-Drug InteractionsFolic AcidPharmacokineticsIn vivoHumansPharmacology (medical)Black teaImmunoassayPharmacologyCross-Over StudiesDose-Response Relationship DrugTeaChemistryfood and beveragesGeneral MedicineMiddle AgedCrossover studyBioavailabilityDose–response relationshipFolic acidArea Under CurveLuminescent MeasurementsVitamin B ComplexFemaleBiopharmaceutics & Drug Disposition
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Effects of L-Carnitine L-Tartrate Supplementation on Muscle Oxygenation Responses to Resistance Exercise

2008

Previous research has shown that L-carnitine L-tartrate (LCLT) supplementation beneficially affects markers of hypoxic stress following resistance exercise. However, the mechanism of this response is unclear. Therefore, the primary purpose of this study was to determine the effects of LCLT supplementation on muscle tissue oxygenation during and after multiple sets of squat exercise. Nine healthy, previously resistance-trained men (25.2 +/- 6.years, 91.2 +/- 10.2 kg, 180.2 +/- 6.3 cm) ingested 2 g.d of LCLT or an identical placebo for 23 days in a randomized, balanced, crossover, double-blind, placebo-controlled, repeated-measures study design. On day 21, forearm muscle oxygenation was measu…

AdultMaleMuscle tissuemedicine.medical_specialtyPhysical Therapy Sports Therapy and RehabilitationProstacyclinPlaceboOxygen ConsumptionDouble-Blind MethodForearmCarnitineMalondialdehydeInternal medicinemedicineHumansOrthopedics and Sports MedicineMuscle SkeletalExerciseTartratesL-Carnitine L-TartrateCross-Over StudiesSpectroscopy Near-Infraredbusiness.industryGeneral MedicineOxygenationCrossover studySurgeryOxygenmedicine.anatomical_structureDietary SupplementsVitamin B ComplexCardiologybusinessmedicine.drugBlood drawingJournal of Strength and Conditioning Research
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Effect of maternal high dosages of folic acid supplements on neurocognitive development in children at 4-5 y of age: the prospective birth cohort Inf…

2017

Background: The benefits of the use of folic acid supplements (FASs) during the periconception period to prevent neural tube defects and to ensure normal brain development in offspring are well known. There is concern, however, about the long-term effects of the maternal use of high dosages of FASs that exceed the Tolerable Upper Intake Level (UL) (≥1000 μg/d) on child neurocognitive outcomes.Objective: The objective of the study was to examine the association between the use of high dosages of FASs during pregnancy and child neuropsychological development at ages 4-5 y.Design: The multicenter prospective mother-child cohort study, the Infancia y Medio Ambiente (INMA) Project, was conducted…

AdultMalePediatricsmedicine.medical_specialtyDoseOffspringMedicine (miscellaneous)030209 endocrinology & metabolismDiet Surveys03 medical and health sciences0302 clinical medicineChild DevelopmentCognitionFolic AcidMemoryPregnancymedicineHumans030212 general & internal medicineProspective StudiesPrenatal Nutritional Physiological PhenomenaPregnancyNutrition and Dieteticsbusiness.industryNeuropsychologyBrainmedicine.diseaseDietDietary Reference IntakeSpainChild PreschoolPrenatal Exposure Delayed EffectsDietary SupplementsVitamin B ComplexGestationFemalebusinessNeurocognitiveCohort studyThe American journal of clinical nutrition
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Efficacy and Tolerability of Biweekly Bevacizumab, Irinotecan, Folinic Acid and Fluorouracil Intravenous Bolus (BIFF Regimen) in Patients With Metast…

2011

Abstract Background We have extensively assessed a biweekly regimen of irinotecan plus folinic acid and fluorouracil bolus (IRIFAFU) in metastatic colorectal cancer (MCRC). Here, we report on the safety and activity of BIFF (bevacizumab plus IRIFAFU) regimen in 94 mCRC patients. Patients and Methods Bevacizumab 5 mg/kg (1 hour), and irinotecan 180 mg/m 2 (1hour) were given intravenously on day 1, 6S-folinic acid 250 mg/m 2 (2 hours), and fluorouracil 850 mg/m 2 (bolus) were given intravenously on day 2 every 2 weeks for a median of 9 cycles per patient (range, 1-12), and maintenance bevacizumab alone was delivered in 16 cases. Results Grade ≥ 3 hematologic toxicities were neutropenia (50%) …

AdultMaleRiskOncologyAntimetabolites Antineoplasticmedicine.medical_specialtyBevacizumabLeucovorinAngiogenesis InhibitorsAntibodies Monoclonal HumanizedIrinotecanFolinic acidBolus (medicine)Internal medicineBiomarkers TumorConfidence IntervalsmedicineHumansInfusions IntravenousAgedbusiness.industryGastroenterologyAntibodies MonoclonalMiddle AgedMETASTATIC COLORECTAL CANCER BEVACIZUMABmedicine.diseaseAntineoplastic Agents PhytogenicSurvival AnalysisBevacizumabIrinotecanRegimenItalyOncologyTolerabilityFluorouracilVitamin B ComplexDisease ProgressionCamptothecinFemaleFluorouracilColorectal NeoplasmsbusinessFebrile neutropeniamedicine.drugClinical Colorectal Cancer
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MTHFR 677C → T genotype modulates the effect of a 5-year supplementation with B-vitamins on homocysteine concentration: The SU.FOL.OM3 randomized con…

2018

Aims To study how MTHFR 677C→T genotype modulates the effect of supplementation with B-vitamins on total homocysteine (tHcy) and B-vitamin concentrations. Methods 2381 patients with a personal history of cardiovascular disease were randomly assigned to one of four groups: 1) B-vitamins alone (560 μg of 5-methyl-THF, 3 mg of vitamin B6 and 20 μg of vitamin B12), 2) n-3 fatty acids alone (600 mg of EPA and DHA in a 2:1 ratio), 3) B-vitamins and n-3 fatty acids, and 4) placebo. Participants were followed up for 4.7 years. At baseline and annually thereafter, biological parameters were assessed. Multivariate and linear mixed models were fit to study the interaction between B-vitamins and MTHFR …

B VitaminsMaleHomocysteinePhysiologylcsh:Medicine[SDV.GEN] Life Sciences [q-bio]/Genetics030204 cardiovascular system & hematologyBiochemistryGastroenterologychemistry.chemical_compound0302 clinical medicineBlood plasmaGenotypeMedicine and Health Sciences030212 general & internal medicinelcsh:ScienceHomocysteine[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyMultidisciplinarybiologyOrganic CompoundsFatty AcidsPyridoxineVitaminsMiddle AgedLipidsBody Fluids3. Good healthChemistryBloodCardiovascular DiseasesCreatininePhysical SciencesVitamin B ComplexFemaleAnatomyResearch Articlemedicine.medical_specialtyGenotypePlaceboBlood PlasmaCobalamins03 medical and health sciencesFolic AcidDouble-Blind MethodInternal medicine[SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular BiologymedicineHumans[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyVitamin B12Methylenetetrahydrofolate Reductase (NADPH2)[SDV.GEN]Life Sciences [q-bio]/GeneticsCreatininePolymorphism Geneticbusiness.industryOrganic Chemistrylcsh:RChemical CompoundsBiology and Life Sciences[SDV.AEN] Life Sciences [q-bio]/Food and NutritionB vitaminschemistry[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologieMethylenetetrahydrofolate reductaseDietary Supplementsbiology.protein[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologielcsh:Qbusiness[SDV.AEN]Life Sciences [q-bio]/Food and NutritionBiomarkers[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyPLoS ONE
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AISF position paper on liver disease and pregnancy.

2016

Abstract The relationship between liver disease and pregnancy is of great clinical impact. Severe liver disease in pregnancy is rare; however, pregnancy-related liver disease is the most frequent cause of liver dysfunction during pregnancy and represents a severe threat to foetal and maternal survival. A rapid differential diagnosis between liver disease related or unrelated to pregnancy is required in women who present with liver dysfunction during pregnancy. This report summarizes the recommendation of an expert panel established by the Italian Association for the Study of the Liver (AISF) on the management of liver disease during pregnancy. The article provides an overview of liver disea…

Cholagogues and CholereticsViral HepatitisBudd-Chiari SyndromeChronic liver diseaseAdrenal Cortex HormoneGastroenterologyHyperemesis gravidarumLiver disease0302 clinical medicinePre-EclampsiaAdrenal Cortex HormonesCholelithiasisMED/12 - GASTROENTEROLOGIAPregnancyHyperemesis GravidarumEclampsiaCholelithiasiThiaminePregnancy Complications InfectiousCholagogues and CholereticSocieties Medical030219 obstetrics & reproductive medicineFatty liverUrsodeoxycholic AcidGastroenterologyCalcium Channel BlockersLiver diseases; Pregnancy; Gastroenterology; HepatologyPregnancy ComplicationAntihypertensive AgentItalyVitamin B ComplexBudd–Chiari syndromeLiver diseases; Pregnancy030211 gastroenterology & hepatologyFemaleCalcium Channel BlockerLiver diseaseHumanViral Hepatitis Vaccinesmedicine.medical_specialtyHELLP SyndromeHepatitis Viral HumanHELLP syndromeCholestasis Intrahepatic03 medical and health sciencesMagnesium SulfateInternal medicinemedicineHumansIntensive care medicineAntihypertensive AgentsLiver diseasesPregnancyEclampsiaHepatologybusiness.industrymedicine.diseasePregnancy ComplicationsFatty LiverPregnancy Liver disease Viral HepatitisPregnancy Complications InfectiouFluid TherapybusinessViral Hepatitis Vaccine
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