Search results for " Basic"

showing 10 items of 10515 documents

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

2015

Abstract There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic and environmental factors, supporting the theory that ALS is a multifactorial disease. The aim of this article was to assess the role of ATXN2 intermediate length repeats in a large series of Italian and Sardinian ALS patients and controls carrying a pathogenetic C9ORF72 GGGGCC hexanucleotide repeat. A total of 1972 ALS cases were identified through the database of the Italian ALS Genetic consortium, a collaborative effort including 18 ALS centers throughout Italy. The study population included: (1) 276 Italian and 57 Sardinian ALS ca…

Male0301 basic medicineAgingC9ORF72Genetic Association Studie030105 genetics & heredityBiologySettore MED/03 - GENETICA MEDICA03 medical and health sciences0302 clinical medicineC9orf72medicineAlleleAmyotrophic lateral sclerosisAmyotrophic lateral sclerosiAgedAtaxin-2Regulator geneAmyotrophic lateral sclerosis; ATXN2; C9ORF72; Phenotype; Neuroscience (all); Medicine (all); Aging; Developmental Biology; Geriatrics and Gerontology; Neurology (clinical)GeneticsDNA Repeat ExpansionNeuroscience (all)ProteinMedicine (all)General NeuroscienceATXN2Middle AgedDNA Repeat Expansionmedicine.diseaseAmyotrophic lateral sclerosis3. Good healthC9orf72 ProteinAmyotrophic lateral sclerosis; ATXN2; C9ORF72; Phenotype; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and GerontologyPhenotypeItalyPopulation studyFemaleSettore MED/26 - NeurologiaNeurology (clinical)Geriatrics and GerontologyTrinucleotide repeat expansion030217 neurology & neurosurgeryHumanDevelopmental Biology
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G6PD protects from oxidative damage and improves healthspan in mice

2016

S.N.-P. and P.J.F.-M. have been funded by the Spanish Association Against Cancer(aecc). Work in the laboratory of M.S. is funded by the CNIO and by grants from the Spanish Ministry of Economy co-funded by the European Regional Development Fund(SAF project), the European Research Council (ERC Advanced Grant), the Regional Government of Madrid co-funded by the European Social Fund (ReCaRe project), the European Union (RISK-IR project), the Botin Foundation and Banco Santander(Santander Universities Global Division), the Ramon Areces Foundation, and the AXA Foundation. Work in the laboratory of J.V. was supported by grants SAF2013-44663-R,from the Spanish Ministry of Education and Science (MEC…

Male0301 basic medicineAgingCellGeneral Physics and AstronomyDehydrogenaseEndogenymedicine.disease_causestressMicehemic and lymphatic diseasesratmécanismegenesreactive oxygen specieschemistry.chemical_classificationMultidisciplinary[SDV.BA]Life Sciences [q-bio]/Animal biologyQvieillissementCell biologymedicine.anatomical_structureanimal transgéniqueFemaleGenetically modified mouse[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]congenital hereditary and neonatal diseases and abnormalitiesScienceTransgeneLongevityMice TransgenicGlucosephosphate DehydrogenaseBiologyGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesparasitic diseasesmedicineAnimalsHumansReactive oxygen speciesgènenutritional and metabolic diseasesGeneral ChemistrycellMolecular biologytransgenic mouseOxidative Stress030104 developmental biologymechanistic theorychemistryageingenzyme antioxydanteAgeingespèce reactive de l'oxygènecelluleReactive Oxygen SpeciesNADPOxidative stressNature Communications
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Early impairment of epigenetic pattern in neurodegeneration: Additional mechanisms behind pyrethroid toxicity

2019

Abstract Permethrin is a synthetic pyrethroid extensively used as anti-woodworm agent and for indoor and outdoor pest control. The main route of human exposure is through fruit, vegetable and milk intake. Low dosage exposure to permethrin during neonatal brain development (from postnatal day 6 to postnatal day 21) leads to dopamine decrease in rat striatum nucleus, oxidative stress and behavioural changes linked to the development of Parkinson's like neurodegeneration later in life. The aim of this study was to evaluate the expression of genes involved in the dopaminergic pathway and epigenetic regulatory mechanisms in adolescent rats treated with permethrin during neonatal brain developmen…

Male0301 basic medicineAgingDopamineStriatumPharmacologyBiologyBiochemistryEpigenesis GeneticMECP203 medical and health sciences0302 clinical medicineEndocrinologyDopamineNuclear Receptor Subfamily 4 Group A Member 2parasitic diseasesGeneticsmedicineAnimalsEpigeneticsRats WistarPromoter Regions GeneticDNA Modification MethylasesMolecular BiologyPermethrinOrphan receptorDopaminergicNeurodegenerationNeurodegenerative DiseasesCell BiologyDNA Methylationmedicine.diseaseCorpus StriatumRatsMolecular Docking Simulation030104 developmental biologyAnimals Newbornalpha-SynucleinProtein Multimerization030217 neurology & neurosurgeryPermethrinmedicine.drugExperimental Gerontology
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Associations of overweight and metabolic health with successful aging: 32-year follow-up of the Helsinki Businessmen Study

2020

Background & aims: Prognostic significance of metabolically healthy overweight and obesity (MHO) is under debate. However the relationship between MHO and health-related quality of life (HRQoL) is less studied. We compared successful aging (longevity plus HRQoL) in men with MHO, metabolically healthy normal weight (MHN) and metabolically unhealthy overweight and obesity (MUO). Methods: In the Helsinki Businessmen Study longitudinal cohort, consisting of men born 1919 to 1934. In 1985/86, overweight (BMI >= 25 kg/m(2)) and metabolic health were determined in 1309 men (median age 60 years). HRQoL was assessed using RAND-36/SF-36 in 2000 and 2007, and all-cause mortality retrieved from registe…

Male0301 basic medicineAgingFITNESSIMPACTRAND-36Successful agingMetabolically healthy overweight and obesityelämänlaatuOverweightCritical Care and Intensive Care MedicineOLD-AGE0302 clinical medicineQuality of lifeQUALITY-OF-LIFEaineenvaihduntaFinlandRISKNutrition and DieteticsHazard ratioylipainoMiddle Aged3. Good healthCARDIOVASCULAR-DISEASEOBESITY3143 Nutritionmedicine.symptomQuality of lifemedicine.medical_specialty030209 endocrinology & metabolism03 medical and health sciencesInternal medicinemedicineHumansAged030109 nutrition & dieteticsMetabolically unhealthy overweight and obesitySuccessful agingbusiness.industryMORTALITYOdds ratioOverweightmedicine.diseaseObesityConfidence intervalBODY-MASS INDEXikääntyminenPHYSICAL-ACTIVITYNonagenariansbusinessBody mass indexFollow-Up StudiesClinical Nutrition
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Alcoholic Beverage and Meal Choices for the Prevention of Noncommunicable Diseases: A Randomized Nutrigenomic Trial

2018

Background. Noncommunicable diseases (NCDs) are the first cause of death worldwide. Mediterranean diet may play a crucial role in the prevention of NCDs, and the presence of wine in this diet could play a positive role on health. Methods. 54 healthy volunteers consumed one of the following beverages: red (RW) or white wine (WW), vodka (VDK), and/or Mediterranean meal (MeDM) and high-fat meal (HFM). Results. OxLDL-C changed significantly between baseline versus HFM, MeDM versus HFM, and HFM versus HFM + RW (p<0.05). Significant upregulation of catalase (CAT) was observed only after RW. Conversely, WW, VDK, RW + MeDM, HF + WW, and HF + VDK determined a significant downregulation of CAT gen…

Male0301 basic medicineAgingGPX1AntioxidantMediterranean dietmedicine.medical_treatmentWineMediterranean030204 cardiovascular system & hematologyDiet Mediterraneanmedicine.disease_causeBiochemistryAntioxidantsNutrigenomicsGlutathione Peroxidase GPX10302 clinical medicineSettore MED/49 - Scienze Tecniche Dietetiche Applicatechemistry.chemical_classificationMeallcsh:CytologyAlcoholic BeveragesGlutathione peroxidaseGeneral MedicineMiddle AgedCatalaseLipoproteins LDLAdolescent; Adult; Aged; Antioxidants; Catalase; Diet High-Fat; Diet Mediterranean; Ethanol; Female; Glutathione Peroxidase; Humans; Lipoproteins LDL; Male; Middle Aged; Noncommunicable Diseases; Nutrigenomics; Oxidative Stress; Superoxide Dismutase; Young Adult; Alcoholic Beverages; Wine; Biochemistry; Aging; Cell BiologyFemaleResearch ArticleAdultmedicine.medical_specialtyAdolescentArticle SubjectLipoproteinsSOD2Diet High-FatLDLYoung Adult03 medical and health sciencesInternal medicinemedicineHumanslcsh:QH573-671Noncommunicable DiseasesAgedGlutathione PeroxidaseEthanolSuperoxide Dismutasebusiness.industryCell BiologyDietHigh-FatOxidative Stress030104 developmental biologyEndocrinologychemistryWhite WinebusinessOxidative stressOxidative Medicine and Cellular Longevity
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Cellular immune activation in Sardinian middle-aged, older adults and centenarians

2017

In addition to viral infections, malignant disorders, autoimmune diseases, and allograft rejection episodes, neopterin increases in older people where it is found to be predictive of overall mortality. Thus, the serum concentrations of this biomarker of systemic immune and inflammation activation, were measured in a small cohort of Sardinian middle-aged, older adults and centenarians. There was a significant positive correlation between neopterin concentrations and age with the subjects in the 95-year-old group with the highest values. Notably, the group of centenarians had neopterin values comparable to those of 80- and 90-year-old groups, and significantly lower than that of 95-year-old g…

Male0301 basic medicineAgingImmunosenescenceLongevityInflammationBiologyNeopterinBiochemistryMonocytes03 medical and health scienceschemistry.chemical_compoundEndocrinologyImmune systemGeneticCentenariansGeneticsmedicineHumansMacrophageCentenarianCytokineMolecular BiologyAgedSettore MED/04 - Patologia GeneraleAged 80 and overMacrophagesPteridinesMonocyteAge FactorsNeopterinCell BiologyImmunosenescenceMacrophage ActivationMiddle AgedInflammaging030104 developmental biologymedicine.anatomical_structureItalychemistryImmunologyCohortPteridineCytokinesBiomarker (medicine)FemaleInflammation Mediatorsmedicine.symptomBiomarkersExperimental Gerontology
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De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

2017

International audience; A series of simplex cases have been reported under various diagnoses sharing early aging, especially evident in congenitally decreased subcutaneous fat tissue and sparse hair, bone dysplasia of the skull and fingers, a distinctive facial gestalt, and prenatal and postnatal growth retardation. For historical reasons, we suggest naming the entity Fontaine syndrome. Exome sequencing of four unrelated affected individuals showed that all carried the de novo missense variant c.649C>T (p.Arg217Cys) or c.650G>A (p.Arg217His) in SLC25A24, a solute carrier 25 family member coding for calcium-binding mitochondrial carrier protein (SCaMC-1, also known as SLC25A24). SLC25A24 all…

Male0301 basic medicineAgingMitochondrionPetty syndromeAntiportersATP-Mg/Pi carriersAdenosine TriphosphateCytosol0302 clinical medicineAdenine nucleotideMissense mutation[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human geneticsGenetics (clinical)Exome sequencingMembrane Potential MitochondrialGeneticsProgeriaATP synthaseSCaMC-1SyndromeMitochondria3. Good healthFemalemedicine.medical_specialtylipodystrophyMolecular Dynamics SimulationBiologyPhosphatesMitochondrial Proteins03 medical and health sciencesReportInternal medicineGeneticsmedicineHumansFetal DeathBone Diseases DevelopmentalAdenineSLC25A24Calcium-Binding ProteinsagingInfant NewbornInfantprogeriaFibroblastsmedicine.diseaseMitochondrial carrierSolute carrier familyOxygenprogeroid disorder030104 developmental biologyEndocrinology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsMutationbiology.protein030217 neurology & neurosurgery
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Human bile microbiota: A retrospective study focusing on age and gender

2021

Aims: The emerging biliary colonization of microorganisms in patients with biliary diseases may be devastating. Recent evidence suggests that age and gender may influence changes in the microbial composition of gut microbiota. To study the relationship between these parameters on bile microbiota, we retrospectively reviewed positive bile cultures following an endoscopic retrograde cholangiopancreatography (ERCP) in a QA-certified academic surgical unit of a single institution. Methods: 449 positive bile cultures from 172 Italian patients with diseases of the biliopancreatic system hospitalized from 2006 through 2017 were investigated for aerobic, anaerobic, and fungal organisms. The patient…

Male0301 basic medicineAgingMultivariate analysisGut flora0302 clinical medicineEpidemiologyBile030212 general & internal medicineAged 80 and overCholangiopancreatography Endoscopic RetrogradeEndoscopic retrograde cholangiopancreatographybiologymedicine.diagnostic_testlcsh:Public aspects of medicineGeneral MedicineMiddle AgedInfectious DiseasesItalyFemaleAnaerobic exerciseAdultmedicine.medical_specialty030106 microbiologyGram-Positive Bacterialcsh:Infectious and parasitic diseasesYoung Adult03 medical and health sciencesERCPAge DistributionAntibiotic resistanceInternal medicineGram-Negative BacteriamedicineHumanslcsh:RC109-216MicrobiomeSex DistributionAgedRetrospective StudiesInpatientsbusiness.industryPublic Health Environmental and Occupational HealthGenderRetrospective cohort studylcsh:RA1-1270biology.organism_classificationBactibiliaCross-Sectional StudiesbusinessJournal of Infection and Public Health
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Bitter, Sweet, Salty, Sour and Umami Taste Perception Decreases with Age: Sex-Specific Analysis, Modulation by Genetic Variants and Taste-Preference …

2018

There is growing interest in relating taste perception to diet and healthy aging. However, there is still limited information on the influence of age, sex and genetics on taste acuity as well as on the relationship between taste perception and taste preferences. We have analysed the influence of age on the intensity rating of the five basic tastes: sweet, salty, bitter, sour and umami (separately and jointly in a &ldquo

Male0301 basic medicineAgingTastegenetic structuresPhysiologyUmamiReceptors G-Protein-CoupledPreference (economics)POPULATIONmedia_commonAged 80 and overNutrition and DieteticsAge FactorsTaste PerceptionMiddle AgedSex specificINSIGHTSTAS2R38taste polymorphismsFemaleHEALTHSENSITIVITYlcsh:Nutrition. Foods and food supplypsychological phenomena and processesAdultAdolescentmedia_common.quotation_subjectDIET QUALITYlcsh:TX341-641BiologyUmami taste perceptionArticleFOOD PREFERENCESTAS2R38Food PreferencesYoung Adult03 medical and health sciencesSex Factorsstomatognathic systemPerceptionHumanssexEpithelial Sodium ChannelsPOLYMORPHISMSAgedPolymorphism Genetic030109 nutrition & dieteticsagingGenetic variantsADULTSLIFEtaste preferencestaste perceptionFood Science
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The healthy Nordic diet predicts muscle strength 10 years later in old women, but not old men

2017

Background a number of nutrients have been found to be associated with better muscle strength and mass; however, the role of the whole diet on muscle strength and mass remains still unknown. Objective to examine whether the healthy Nordic diet predicts muscle strength, and mass 10 years later among men and women. Methods about 1,072 participants belong to the Helsinki Birth Cohort Study, born 1934–44. Diet was assessed with a validated food-frequency questionnaire during 2001–04. The Nordic diet score (NDS) was calculated. The score included Nordic fruits, vegetables, cereals, ratio of polyunsaturated to saturated fatty acids, low-fat milk, fish, red meat, total fat and alcohol. Higher scor…

Male0301 basic medicineAgingTime FactorsMediterranean dietolder peopleGrip strength0302 clinical medicineSurveys and QuestionnairesElectric Impedance030212 general & internal medicine2. Zero hungerMuscle WeaknessHand StrengthAge Factorsta3141General Medicineta3142Middle Agedmedicine.anatomical_structureQuartilemuscle massBody CompositionRed meatpopulation characteristicsFemaleDiet Healthymedicine.symptommedicine.medical_specialtyNutritional Status03 medical and health sciencesSex FactorsInternal medicineHand strengthmedicineHumansMuscle Skeletal030109 nutrition & dieteticsbusiness.industryNordic dietMuscle weaknessSkeletal muscleFeeding BehaviorConfidence intervallihasmassaPhysical therapymuscle strengthGeriatrics and Gerontologybusinesslihasvoima
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