Search results for "PTO"

showing 10 items of 28599 documents

CYP27A1, CYP24A1, and RXR-α Polymorphisms, Vitamin D, and Multiple Sclerosis: a Pilot Study.

2018

Multiple sclerosis (MS) is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Hypovitaminosis D seems to contribute to MS susceptibility as both an environmental and a genetic risk factor. The aim of our study was to investigate the association of SNPs in CYP27A1, CYP24A1, and RXR- α genes, vitamin D status, and MS risk. We performed a nested case-control study on patients with multiple sclerosis and healthy controls. Serum 25(OH)D3 levels and genotyping of CYP27A1, CYP24A1, and RXR-α -SNPs were investigated both in MS patients and in healthy controls. Serum 25(OH)D3 levels were measured by a high-performance liquid chromatograp…

0301 basic medicineAdultMalemedicine.medical_specialtyMultiple SclerosisRXRSingle-nucleotide polymorphismPilot ProjectsPolymorphism Single Nucleotide03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineInternal medicineGenotypemedicineVitamin D and neurologyHumansVitamin DAlleleVitamin D3 24-HydroxylaseGenotypingAutoimmune disease25-Hydroxyvitamin D 2Retinoid X Receptor alphabusiness.industryMultiple sclerosisGeneral MedicineMiddle Agedmedicine.diseaseMinor allele frequencyCYP24A1030104 developmental biologyEndocrinologyCase-Control StudiesCYP27A1Cholestanetriol 26-MonooxygenaseFemalebusiness030217 neurology & neurosurgeryJournal of molecular neuroscience : MN
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Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients.

2020

Abstract With next generation sequencing, physicians are faced with more complex and uncertain data, particularly incidental findings (IF). Guidelines for the return of IF have been published by learned societies. However, little is known about how patients are affected by these results in a context of oncogenetic testing. Over 4 years, 2500 patients with an indication for genetic testing underwent a gene cancer panel. If an IF was detected, patients were contacted by a physician/genetic counsellor and invited to take part in a semi-structured interview to assess their understanding of the result, the change in medical care, the psychological impact, and the transmission of results to the f…

0301 basic medicineAdultMalemedicine.medical_specialtyPatientsContext (language use)030105 genetics & heredity03 medical and health sciencesNeoplasmsGeneticsmedicineGenetic predispositionHumansGenetic Predisposition to DiseaseGenetic TestingCHEK2Genetics (clinical)Genetic testingAgedIncidental Findingsmedicine.diagnostic_testbusiness.industryCancerRegretGeneral MedicineMiddle Agedmedicine.disease030104 developmental biologyAttitudeFamily medicineAnxietyFemalemedicine.symptomReturn of resultsbusinessEuropean journal of medical genetics
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New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients

2017

Abstract Introduction The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This ‘classical’ phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline. In this study we describe the spectrum of neurological disease in Caucasian patients. Methods Data on…

0301 basic medicineAdultMalemedicine.medical_specialtyPediatricsAtaxiaMovement disordersBiologyWhite People03 medical and health sciencesNeurological manifestation0302 clinical medicinePhenotypic variabilitymedicineAceruloplasminemiaHumansCognitive declineAceruloplasminemiaPsychiatryDystoniaCerebellar ataxiaParkinsonismCeruloplasminChoreaNeurodegenerative DiseasesMiddle Agedmedicine.diseaseIron Metabolism DisordersPedigree030104 developmental biologyPsychiatric changesPhenotypeNeurologyFemaleNeurology (clinical)Geriatrics and Gerontologymedicine.symptomNervous System DiseasesSettore M-EDF/01 - Metodi E Didattiche Delle Attivita' Motorie030217 neurology & neurosurgeryFollow-Up Studies
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High-frequency blood flow-restricted resistance exercise results in acute and prolonged cellular stress more pronounced in type I than in type II fib…

2021

Myocellular stress with high-frequency blood flow-restricted resistance exercise (BFRRE) was investigated by measures of heat shock protein (HSP) responses, glycogen content, and inflammatory markers. Thirteen participants [age: 24 ± 2 yr (means ± SD), 9 males] completed two 5-day blocks of seven BFRRE sessions, separated by 10 days. Four sets of unilateral knee extensions to failure at 20% of one-repetition maximum (1RM) were performed. Muscle samples obtained before, 1 h after the first session in the first and second block (

0301 basic medicineAdultMalemedicine.medical_specialtyPhysiologyInflammationStress (mechanics)03 medical and health sciencesYoung Adult0302 clinical medicinePhysiology (medical)Internal medicinemedicineStress ProteinsHumansType i muscle fibersMuscle SkeletalExerciseKaatsuFiber typeChemistryResistance trainingResistance Training030229 sport sciencesBlood flowMicroRNAs030104 developmental biologyEndocrinologyMuscle Fibers Slow-TwitchRegional Blood FlowFemalemedicine.symptomJournal of applied physiology (Bethesda, Md. : 1985)
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Mediterranean diet and sars-cov-2 infection: Is there any association? a proof-of-concept study

2021

The aim of this observational study was investigating the possible correlation between adherence to the Mediterranean diet (MeD) and SARS-COV-2 infection rates and severity among healthcare professionals (HCPs). An online self-administrated questionnaire (evaluating both MeD adherence and dietary habits) was filled out by HCPs working in Piedmont (Northern Italy) from 15 January to 28 February 2021. Out of the 1206 questionnaires collected, 900 were considered reliable and analyzed. Individuals who reported the SARS-COV-2 infection (n = 148) showed a significantly lower MeD score, with a lower adherence in fruit, vegetables, cereals, and olive oil consumption. In a logistic regression model…

0301 basic medicineAdultMalemedicine.medical_specialtySARS-COV-2 infectionMediterranean dietSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)030209 endocrinology & metabolismMediterraneanDietary habitLogistic regressionDiet MediterraneanAsymptomaticProof of Concept StudyArticle03 medical and health sciences0302 clinical medicineRisk FactorsInternal medicineHealthcare professionalsMediterranean dietSurveys and QuestionnairesmedicineHumansTX341-641Settore MED/49 - Scienze Tecniche Dietetiche ApplicateSARS-COV-2 infection.AgedRetrospective Studies030109 nutrition & dieteticsNutrition and DieteticsHealth professionalsNutrition. Foods and food supplybusiness.industryDietary habitsSARS-CoV-2Risk of infectionAge FactorsCOVID-19Retrospective cohort studyMiddle AgedDietDietary habits; Healthcare professionals; Mediterranean diet; SARS-COV-2 infection; Adult; Age Factors; Aged; COVID-19; Female; Humans; Male; Middle Aged; Proof of Concept Study; Retrospective Studies; Risk Factors; Diet Mediterranean; SARS-CoV-2; Surveys and QuestionnairesHealthcare professionalObservational studyFemalemedicine.symptombusinessFood Science
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Body Mass Index and Associated Clinical Variables in Patients with Non-Celiac Wheat Sensitivity.

2019

Background: Non-Celiac Wheat Sensitivity (NCWS) is still a largely undefined condition, due to the lack of a diagnostic marker. Few data are available about the nutritional characteristics of NCWS patients at diagnosis. Aims: To evaluate the proportion of NCWS patients who were underweight, normal weight, overweight, or obese at diagnosis, and to search for possible correlations between their Body Mass Index (BMI) and other NCWS-related disease characteristics. Patients and Methods: The clinical charts of 145 NCWS patients (125 F, 20 M, mean age 37.1 &plusmn

0301 basic medicineAdultMalemedicine.medical_specialtySettore MED/09 - Medicina InternaClinical variablesHLA haplotypelcsh:TX341-641autoimmune diseaseAutoimmunityDiseaseWheat HypersensitivityOverweightBody Mass Index (BMI)GastroenterologyArticleBody Mass IndexCeliac Disease (CD)03 medical and health sciencesIrritable Bowel Syndrome (IBS)0302 clinical medicineThinnessWeight lossInternal medicineHLA-DQ AntigensmedicineHumansIn patientautoimmune diseasesIrritable bowel syndromeRetrospective StudiesNutrition and Dieteticsbusiness.industrynutritional and metabolic diseasesMiddle AgedOverweightmedicine.diseasePrognosis030104 developmental biologyHaplotypesnon-celiac wheat sensitivity (NCWS)030211 gastroenterology & hepatologyFemalemedicine.symptomUnderweightbusinesslcsh:Nutrition. Foods and food supplyBody mass indexFood ScienceNutrients
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Nutritional strategies in an elite wheelchair marathoner at 3900 m altitude: a case report.

2019

Abstract Background Altitude training is a common practice among middle-distance and marathon runners. During acclimatization, sympathetic drive may increase resting metabolic rate (RMR), therefore implementation of targeted nutritional interventions based on training demands and environmental conditions becomes paramount. This single case study represents the first nutritional intervention performed under hypobaric hypoxic conditions (3900 m) in Paralympic sport. These results may elucidate the unique nutritional requirements of upper body endurance athletes training at altitude. Case presentation This case study examined the effects of a nutritional intervention on the body mass of a 36-y…

0301 basic medicineAdultMalemedicine.medical_specialtySports medicineAcclimatizationeducationlcsh:TX341-641Case ReportClinical nutritionAthletic Performance03 medical and health sciences0302 clinical medicineWheelchairNutritional InterventionsAltitude trainingParalympicMedicineHumanslcsh:Sports medicineHypoxia030109 nutrition & dieteticsNutrition and DieteticsNutritional interventionbusiness.industryAltitude030229 sport sciencesHypoxia (medical)DietSports Nutritional Physiological PhenomenaWheelchairsBody massPara-AthletesEliteBasal metabolic ratePhysical therapyEnergy intakemedicine.symptomlcsh:RC1200-1245businesslcsh:Nutrition. Foods and food supplyhuman activitiesFood ScienceJournal of the International Society of Sports Nutrition
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Surgical treatment of localized gingival recessions using coronally advanced flaps with or without subepithelial connective tissue graft.

2015

Background A coronally advanced flap with subepithelial connective tissue graft is the gold standard surgical treatment of gingival recessions, since it offers a higher probability of achieving complete root coverage compared with other techniques. However, optimum short- and middle-term clinical results have also been obtained with coronally advanced flaps alone. The aim of the present study was to evaluate the results obtained by the surgical treatment of localized gingival recessions using coronally advanced flaps with or without subepithelial connective tissue graft. Material and Methods The reduction of recession height was assessed, together with the gain in gingival attachment apical…

0301 basic medicineAdultMalemedicine.medical_specialtyTest groupOral Surgical ProceduresDentistrySubepithelial connective tissue graftOdontologíaSurgical Flaps03 medical and health sciences0302 clinical medicinemedicineHumansGingival RecessionSurgical FlapsSurgical treatmentGeneral DentistryGingival recessionRetrospective Studiesbusiness.industryResearchGingival attachment030206 dentistryMiddle Aged:CIENCIAS MÉDICAS [UNESCO]Root coverageCiencias de la saludeye diseasesSurgery030104 developmental biologyOtorhinolaryngologyConnective TissueUNESCO::CIENCIAS MÉDICASSurgeryFemalemedicine.symptomOral Surgerybusinesshuman activitiesMedicina oral, patologia oral y cirugia bucal
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The utility of measuring tear film break-up time for prescribing contact lenses.

2017

Abstract Purpose To evaluate the clinical value of non-invasive keratograph tear film breakup time (NIKBUT) in the assessment of pre-corneal and pre-lens tear film quality for prescribing contact lenses (CLs). Methods Forty-six subjects aged 25.5 ± 4.3 (mean ± standard deviation) years were recruited. Visual acuity (VA), anterior eye health checks and NIKBUT were evaluated. On the following day, subjects were fitted with a daily Silicon Hydrogel (SiHy) CL in one eye and a Hydrogel (Hy) CL in the other. After four hours one material for both eyes was chosen based on a qualitative analysis which included VA, CL fitting and comfort. Information about the first and the mean NIKBUT was then cont…

0301 basic medicineAdultMalemedicine.medical_specialtyVisual acuityVisual Acuitylaw.invention03 medical and health sciencesYoung Adult0302 clinical medicineCLs upper limitslawOphthalmologyEye healthmedicineHumansmedicine.diagnostic_testBlinkingbusiness.industryCorneal TopographyQuality measurementGeneral MedicineTear film break-up timeCorneal topographyContact Lenses Hydrophiliceye diseasesLens (optics)Ophthalmology030104 developmental biologyPrescriptionsTears030221 ophthalmology & optometryTearsFemalemedicine.symptombusinessOptometryContact lensanterior eye : the journal of the British Contact Lens Association
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Alpha-defensins (α-Defs) in Crohn's disease: decrease of ileal α-Def 5 via permanent methylation and increase in plasma α-Def 1-3 concentrations offe…

2018

Summary An impaired expression of α-defensins (α-Defs) in the ileal mucosa and, conversely, increased levels in plasma, have been reported in Crohn's disease (CD). However, the specificity and correlation of these findings with the degree of inflammation are unclear. We aimed to characterize the concentration and utility of ileal and plasma α-Defs in CD and to analyse a potential epigenetic mechanism of α-Def expression. Peripheral blood samples and ileal biopsies were obtained from patients at disease onset (aCD), from those who achieved remission (iCD) and from two control groups (healthy controls and non-CD-aetiology ileitis patients). Plasma α-Defs 1–3 and 4 were detected by enzyme-link…

0301 basic medicineAdultMalemedicine.medical_specialtyalpha-DefensinsAdolescentBiopsyImmunologyAlpha (ethology)InflammationGastroenterologyMethylationEpigenesis Genetic03 medical and health sciencesYoung Adult0302 clinical medicineIntestinal mucosaCrohn DiseaseIleumInternal medicineBiopsyImmunology and AllergyMedicineHumansIleitisRNA MessengerIntestinal MucosaAgedInflammationCrohn's diseasemedicine.diagnostic_testbusiness.industryMethylationOriginal ArticlesMiddle Agedmedicine.disease030104 developmental biologyEndocrinologyCase-Control StudiesBiomarker (medicine)030211 gastroenterology & hepatologyFemalemedicine.symptombusinessBiomarkersClinical and experimental immunology
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