Search results for "Porti"

showing 10 items of 2689 documents

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.

2019

Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to achieve a conclusive genetic diagnosis for 34 patients clinically diagnosed of WD. Genetic analysis comprised from analysis of exons to WES (whole exome sequencing), including promoter, introns, UTRs (untranslated regions), besides of study of large deletions/duplications by MLPA (multiplex ligation-dependent probe amplification). Biallelic ATP7B mutations were identified in 30 patients, so that four patients were analyzed using WES. Two affected siblings resulted to be compound…

0301 basic medicineAdultMaleNerve Tissue Proteins030105 genetics & heredityBiologymedicine.disease_causeCompound heterozygosityGenetic analysis03 medical and health sciencesExonHepatolenticular DegenerationExome SequencingGeneticsmedicineHumansGenetic Predisposition to DiseaseMultiplex ligation-dependent probe amplificationGenetic TestingGenetics (clinical)Exome sequencingGeneticsMutationExonsmedicine.diseaseWilson's disease030104 developmental biologyPhenotypeCopper-Transporting ATPasesSpainMutationFemaleCongenital disorder of glycosylationClinical geneticsREFERENCES
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Peripheral Maintenance of the Axis SIRT1-SIRT3 at Youth Level May Contribute to Brain Resilience in Middle-Aged Amateur Rugby Players

2019

Physical exercise performed regularly is known to improve health and to reduce the risk of age-related diseases. Furthermore, there is some evidence of cognitive improvement in physically active middle-aged and older adults. We hypothesized that long-term physically active middle-aged men may have developed brain resilience that can be detected with the analysis of peripheral blood markers. We aimed to analyze the activation of pathways potentially modulated by physical activity in a cohort of healthy amateur rugby players (n = 24) and control subjects with low physical activity (n = 25) aged 45¿65 years. We had previously reported neuropsychological improvement in immediate memory response…

0301 basic medicineAgingBrain resilienceMiddle-aged and young menCognitive Neurosciencemedia_common.quotation_subjectPhysiologyPhysical exerciseExerciciSanglcsh:RC321-571SIRT303 medical and health scienceswhole-blood gene expression0302 clinical medicineSIRT1Whole-blood gene expressionphysical exerciseMedicineCervellmiddle-aged and young menExerciselcsh:Neurosciences. Biological psychiatry. Neuropsychiatrymedia_commonWhole bloodOriginal Researchbusiness.industrybrain resilienceLongevityNeuropsychologyBrainPhysical exerciseCognitionExecutive functionsEsportistes d'elit030104 developmental biologyBloodAthletesCohortPsychological resiliencebusiness030217 neurology & neurosurgeryNeuroscienceFrontiers in Aging Neuroscience
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120 min/week of neuromotor multicomponent training are enough to improve executive function and functional fitness in older women.

2021

Purpose: The study aimed at comparing the effects of a neuromotor multicomponent training program (MCTP) on executive function, functional fitness, blood pressure, body composition and health-related quality of life (HRQOL), compared with a concurrent strength and endurance exercise training program (CONTROL-EXE) and a cognitive training program (CONTROL-COG). Methods: 56 older women (73 ± 6 years) completed the 30-weeks intervention. The three groups attended two 60-min sessions per week and they were assessed before and after the intervention. Results: MCTP showed a moderate improvement in Stroop C condition (28 ± 7 vs 32 ± 8 correct items; p = 0.001; d = 0.53) and Stroop interference sco…

0301 basic medicineAgingmedicine.medical_specialtyFunctional trainingTimed Up and Go testBiochemistry03 medical and health sciencesExecutive Function0302 clinical medicineEndocrinologyCognitionElderlyQuality of lifeEndurance trainingGeneticsEducación Física y DeportivaMedicineHumansMolecular BiologyExercisePostural BalanceAgedEsportsStroop testHand Strengthbusiness.industryCognitionCell BiologyCognitive training030104 developmental biologyBlood pressureSenior fitness testPhysical FitnessTime and Motion StudiesPhysical therapyPhysical functionQuality of LifeEducació físicaFemalebusiness030217 neurology & neurosurgeryStroop effectExperimental gerontology
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Incidence of Mild Cognitive Impairment and Dementia in Parkinson's Disease: The Parkinson's Disease Cognitive Impairment Study.

2018

Background: Cognitive impairment in Parkinson's disease (PD) includes a spectrum varying from Mild Cognitive Impairment (PD-MCI) to PD Dementia (PDD). The main aim of the present study is to evaluate the incidence of PD-MCI, its rate of progression to dementia, and to identify demographic and clinical characteristics which predict cognitive impairment in PD patients. Methods: PD patients from a large hospital-based cohort who underwent at least two comprehensive neuropsychological evaluations were retrospectively enrolled in the study. PD-MCI and PDD were diagnosed according to the Movement Disorder Society criteria. Incidence rates of PD-MCI and PDD were estimated. Clinical and demographic…

0301 basic medicineAgingmedicine.medical_specialtyParkinson's diseaseCognitive NeuroscienceParkinson's diseasebehavioral disciplines and activitieslcsh:RC321-57103 medical and health sciences0302 clinical medicinemild cognitive impairmentInternal medicinemental disordersMedicineDementiaNeuropsychological assessmentMild cognitive impairment (MCI)lcsh:Neurosciences. Biological psychiatry. NeuropsychiatryOriginal Researchmedicine.diagnostic_testbusiness.industryProportional hazards modelIncidence (epidemiology)Neuropsychologymedicine.diseasenervous system diseasesneuropsychological assessment030104 developmental biologyCohortParkinson’s diseaseincidencebusiness030217 neurology & neurosurgeryNeurosciencedementiaFrontiers in aging neuroscience
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Baseline metabolic disturbances and the twenty-five years risk of incident cancer in a Mediterranean population.

2016

Abstract Background and aims Obesity is predictive of metabolic syndrome (metS), type 2 diabetes, cardiovascular (CV) disease and cancer. The aim of the study is to assess the risk of incident cancer connected to obesity and metS in a Mediterranean population characterized by a high prevalence of obesity. Methods and results As many as 1133 subjects were enrolled in two phases and followed for 25 years (859 subjects) or 11 years (274 subjects) and incident cancer was registered in the follow-up period. Anthropometric measures and biochemical parameters were filed at baseline and evaluated as predictors of incident cancer by measuring hazards ratios (HR) using multivariate Cox parametric haz…

0301 basic medicineBlood GlucoseMaleSettore MED/09 - Medicina InternaTime FactorsMediterranean dietEpidemiologyEndocrinology Diabetes and MetabolismMedicine (miscellaneous)Type 2 diabetesDiet Mediterranean0302 clinical medicineRisk FactorsNeoplasmsPrevalenceCancerMetabolic Syndromeeducation.field_of_studyNutrition and DieteticsIncidence (epidemiology)IncidenceLipidMiddle AgedLipidsItalyCardiovascular Diseases030220 oncology & carcinogenesisArea Under CurveFemaleDiet HealthyCardiology and Cardiovascular Medicinemedicine.medical_specialtyPopulationRisk AssessmentDisease-Free Survival03 medical and health sciencesInternal medicinemedicineHumansObesityeducationAgedProportional Hazards ModelsRetrospective StudiesChi-Square Distributionbusiness.industryProportional hazards modelCancerProtective Factorsmedicine.diseaseObesity030104 developmental biologyEndocrinologyROC CurveMultivariate AnalysisMetabolic syndromeInsulin ResistancebusinessBiomarkersNutrition, metabolism, and cardiovascular diseases : NMCD
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The role of Plasma Membrane Calcium ATPases (PMCAs) in neurodegenerative disorders

2017

Selective degeneration of differentiated neurons in the brain is the unifying feature of neurodegenerative disorders such as Parkinson's disease (PD) or Alzheimer's disease (AD). A broad spectrum of evidence indicates that initially subtle, but temporally early calcium dysregulation may be central to the selective neuronal vulnerability observed in these slowly progressing, chronic disorders. Moreover, it has long been evident that excitotoxicity and its major toxic effector mechanism, neuronal calcium overload, play a decisive role in the propagation of secondary neuronal death after acute brain injury from trauma or ischemia. Under physiological conditions, neuronal calcium homeostasis is…

0301 basic medicineCalcium pumpExcitotoxicitychemistry.chemical_elementCalciumProtein oxidationmedicine.disease_causeProtein Structure SecondaryPlasma Membrane Calcium-Transporting ATPases03 medical and health sciences0302 clinical medicinemedicineAnimalsHumansPhylogenyCalcium metabolismMembrane potentialChemistryGeneral NeuroscienceNeurodegenerationNeurodegenerative Diseasesmedicine.diseaseCytosol030104 developmental biologyNeuroscience030217 neurology & neurosurgeryNeuroscience Letters
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Identification of clinical phenotypes and related survival in patients with large hccs

2021

Background. Hepatocellular carcinoma (HCC) factors, especially maximum tumor diameter (MTD), tumor multifocality, portal vein thrombosis (PVT), and serum alpha-fetoprotein (AFP), influence survival. Aim. To examine patterns of tumor factors in large HCC patients. Methods. A database of large HCC patients was examined. Results. A multiple Cox proportional hazard model on death identified low serum albumin levels and the presence of PVT and multifocality, with each having a hazard ratio ≥2.0. All combinations of these three parameters were examined in relation to survival. Using univariate Cox analysis, the combination of albumin &gt

0301 basic medicineCancer Researchmedicine.medical_specialtyPVTSettore MED/12 - GASTROENTEROLOGIASerum albuminlcsh:RC254-282GastroenterologyArticle03 medical and health sciences0302 clinical medicineInternal medicineMedicinePlateletHCCneoplasmsSurvival ratePVT.biologybusiness.industryProportional hazards modelAlbuminHazard ratioSettore MED/09 - MEDICINA INTERNAAlbuminMultifocalityHCC; large; phenotypes; PVT; multifocality; albuminlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseasedigestive system diseasesPortal vein thrombosisAlbumin; HCC; Large; Multifocality; Phenotypes; PVTPhenotypesPhenotype030104 developmental biologyOncology030220 oncology & carcinogenesisHepatocellular carcinomabiology.proteinLargebusiness
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Food healthy knowledge, attitudes and practices: Survey of the general public and food handlers

2017

AbstractModifying the energy content of foods, particularly foods eaten away from home, is important in addressing the obesity epidemic. Food handlers in the restaurant industry are uniquely placed to influence the provision of reduced-calorie foods, but little is known about their opinions on this issue. The objectives of the present study were to determine the general public and food handlers׳ knowledge and opinions, issues and barriers related to providing these items on the menu, and about the influence of the calorie content of restaurant items on customer intake. The food handlers surveyed had a significantly lower food science knowledge score than the general public. There was signif…

0301 basic medicineCultural Studies030109 nutrition & dieteticsFood handlersCalorieRestaurantsbusiness.industrydigestive oral and skin physiologySignificant differencePortion sizemedicine.diseaseObesityPortion size03 medical and health sciencesKnowledge scoreEnergy densityAttitudesTasteEnergy densitymedicineMarketingbusinessComputingMilieux_MISCELLANEOUSFood ScienceRestaurant industryInternational Journal of Gastronomy and Food Science
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Legume consumption is inversely associated with type 2 diabetes incidence in adults: A prospective assessment from the PREDIMED study

2018

Background & aims: Legumes, a low-energy, nutrient-dense and low glycemic index food, have shown beneficial effects on glycemic control and adiposity. As such, legumes are widely recommended in diabetic diets, even though there is little evidence that their consumption protects against type 2 diabetes. Therefore the aim of the present study was to examine the associations between consumption of total legumes and specific subtypes, and type 2 diabetes risk. We also investigated the effect of theoretically substituting legumes for other protein- or carbohydrate-rich foods. Methods: Prospective assessment of 3349 participants in the PREvención con DIeta MEDiterránea (PREDIMED) study without ty…

0301 basic medicineGerontologyBlood GlucoseMaleLentilsMediterranean dietPREDIMED-study030209 endocrinology & metabolismContext (language use)Type 2 diabetesCritical Care and Intensive Care MedicineLower riskDiet Mediterranean03 medical and health sciences0302 clinical medicineRisk FactorsDiabetes mellitusmedicineHumansProspective StudiesGlycemicAdiposityAgedProportional Hazards Models030109 nutrition & dieteticsNutrition and Dieteticsbusiness.industryFabaceaeType 2 diabetesMiddle Agedmedicine.diseaseLegumesDietGlycemic indexQuartileDiabetes Mellitus Type 2Glycemic IndexFemalebusinessDemographyFollow-Up Studies
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Overview of the interaction of helminth extracellular vesicles with the host and their potential functions and biological applications.

2021

Helminth Extracellular Vesicles (EVs) have emerged as important mediators in host-parasite communications, participating in the parasite survival and its pathogenic effects. In the last decade, a growing amount of information reporting the isolation and characterization of EVs from different helminth species has appeared, but unfortunately, few reports have focused on functional studies of helminth EVs in different cell lines, organoids or animal models. We here review these in vitro and in vivo studies, which clearly demonstrate that helminths secrete EVs, which affect their environment. Helminth EVs are actively internalized by different cell lines, modulating cellular functions important…

0301 basic medicineHost (biology)ImmunologyCellular functionsHelminthiasisComputational biologyBiologyExtracellular vesiclesHost-Parasite Interactions03 medical and health sciencesExtracellular Vesicles030104 developmental biology0302 clinical medicineImmune systemHelminthsparasitic diseasesHelminthsAnimalsHumansSecretionFunctional studiesInformation reportingMolecular Biology030215 immunologyMolecular immunology
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