Search results for "Ink"

showing 10 items of 4279 documents

GAA trinucleotide repeat expansion in variant Friedreich's ataxia families.

1997

Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two allelic expansions of the GAA trinucleotide repeat at the X25 gene. In family 1 both patients had a late-onset phenotype with preservation of knee and ankle jerks, lack of cardiomyopathy, and preserved H reflex. One of them did not have electrophysiologic evidence of sensory axonal neuropathy. Patients from family 2 showed variability in the age of onset, and 2 out of 3 affected children had hype…

AdultMaleReflex Stretchcongenital hereditary and neonatal diseases and abnormalitiesPathologymedicine.medical_specialtySensory axonal neuropathyAtaxiaPhysiologyGenetic LinkageAction PotentialsLate onsetBiologyH-ReflexCellular and Molecular NeuroscienceDegenerative diseaseTrinucleotide RepeatsPhysiology (medical)medicineHumansNeurons AfferentChildAllelesLegGenetic VariationDNACardiomyopathy Hypertrophicmedicine.diseasePedigreePeripheral neuropathyFriedreich AtaxiaReflexDisease ProgressionFemaleNeurology (clinical)medicine.symptomAge of onsetTrinucleotide repeat expansionMusclenerve
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Identification of possible risk factors for alcohol use disorders among general practitioners in Rhineland-Palatinate, Germany

2012

QUESTIONS UNDER STUDY Research on alcohol use disorders among physicians has been scarce in Germany. The aim of our study was to identify possible risk factors for alcohol use disorders among general practitioners (GPs) working in the outpatient sector in the federal German state of Rhineland-Palatinate (RP). METHODS An anonymous survey was carried out between June and July 2009. 2,092 practice-based GPs in the federal German state of RP were asked to take part in the cross-sectional study via postal mail. The CAGE screening tool was used in its German version (CAGE-G) to screen for alcohol use disorders (AUD). Moreover, possible risk factors such as work stress (effort-reward imbalance), s…

AdultMaleRelaxationmedicine.medical_specialtyAlcohol Drinkingmedia_common.quotation_subjectWorkloadLogistic regressionJob SatisfactionGermanSex FactorsGeneral PractitionersRisk FactorsGermanyPrevalenceHumansPersonalityMedicineScreening toolPsychiatrymedia_commonResponse rate (survey)business.industryType D personalityAge FactorsGeneral MedicineMiddle AgedResilience PsychologicalHealth Surveyslanguage.human_languageAlcoholismIdentification (information)Cross-Sectional StudiesLogistic ModelslanguageFemalePsychological resiliencebusinessStress PsychologicalPersonalitySwiss Medical Weekly
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Current active and passive smoking among adults living with same sex partners in Spain

2018

Objective: To assess the association between current active and passive tobacco smoking and living with a same-sex partner in Spain. Methods: We analysed data from two cross-sectional national surveys of the Spanish population 15 years and older (2011-Encuesta Nacional de Salud en España and 2014-Encuesta Europea de Salud en España). Analyses included only people living with their partner. Associations were calculated using multiple logistic regressions adjusting for gender, social class and age. Results: Current active and passive smoking were significantly associated with living with same sex partners (odds ratio: 2.71 and 2.88), and particularly strong among women. Conclusions: Spanish a…

AdultMaleRiskPassive smokingAdolescentAlcohol DrinkingSurveysLogistic regressionSocial classmedicine.disease_causeYoung Adult03 medical and health sciences0302 clinical medicineEnvironmental healthTobaccomedicineHumans030212 general & internal medicineAged030505 public healthbusiness.industryMental Disorderslcsh:Public aspects of medicineSmokingPublic Health Environmental and Occupational Healthlcsh:RA1-1270HomosexualityOdds ratioMiddle AgedHealth SurveysHealth equitytabacSpanish populationSexual minoritiesCross-Sectional StudiesSexual PartnersTobacco smoke pollutionSocioeconomic FactorsSpainSame sexSexual orientationFemaleTobacco Smoke Pollutionpsicologia0305 other medical sciencebusinessconducta (psicologia)
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Influence of the APOA5 locus on plasma triglyceride, lipoprotein subclasses, and CVD risk in the Framingham Heart Study

2004

Several polymorphisms in the APOA5 gene have been associated with increased plasma triglyceride (TG) concentrations. However, associations between APOA5 and lipoprotein subclasses, remnant-like particles (RLPs), and cardiovascular disease (CVD) risk have been less explored. We investigated associations of five APOA5 single-nucleotide polymorphisms (SNPs; −1131T>C, −3A>G, 56C>G IVS3+ 476G>A, and 1259T>C) with lipoprotein subfractions and CVD risk in 1,129 men and 1,262 women participating in the Framingham Heart Study. Except for the 56C>G SNP, the other SNPs were in significant linkage disequilibria, resulting in three haplotypes (11111, 22122, and 11211) representing 98% of the population.…

AdultMaleRiskhaplotypemedicine.medical_specialtyGenotypeLipoproteinsPopulationCoronary DiseaseSingle-nucleotide polymorphismQD415-436BiologyCardiovascular SystemPolymorphism Single NucleotideBiochemistryLinkage Disequilibriumchemistry.chemical_compoundSex FactorsEndocrinologyFramingham Heart StudyInternal medicineremnant-like particlesmedicineHumansSNPAlleleeducationAllelesApolipoproteins ATriglyceridesAgededucation.field_of_studyPolymorphism GeneticCholesterolHaplotypeGenetic VariationCell BiologyMiddle Agedcardiovascular disease riskApolipoproteinsCholesterolEndocrinologyHaplotypeschemistryApolipoprotein A-VCardiovascular DiseasesFemaleLipoproteinJournal of Lipid Research
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Common cholesteryl ester transfer protein gene variation related to high-density lipoprotein cholesterol is not associated with decreased coronary he…

2009

Despite the consistent association between cholesteryl ester transfer protein (CETP) gene variation and plasma HDL-C, huge controversy still rages on its association with coronary heart disease (CHD). We investigated the association between the CETP-TaqIB polymorphism, HDL-C and incident CHD in a Mediterranean population.A nested case-control study among participants of the Spanish EPIC cohort was performed. 41,440 healthy individuals (30-69 years) were followed up over a 10-year period, incident CHD cases being identified. We analyzed 557 confirmed CHD cases and 1180 healthy controls.Despite B2B2 subjects having the highest HDL-C concentrations and B1B1, the lowest (P0.001), no protective …

AdultMaleRiskmedicine.medical_specialtyAlcohol DrinkingPopulationCoronary DiseaseGastroenterologychemistry.chemical_compoundHigh-density lipoproteinInternal medicineDiabetes mellitusCholesterylester transfer proteinEpidemiologymedicineHumanseducationAgededucation.field_of_studyPolymorphism Geneticbiologybusiness.industryCholesterolMediterranean RegionIncidence (epidemiology)Cholesterol HDLGenetic VariationMiddle Agedmedicine.diseaseCholesterol Ester Transfer ProteinsEndocrinologychemistryCase-Control StudiesCohortbiology.proteinlipids (amino acids peptides and proteins)FemaleCardiology and Cardiovascular MedicinebusinessFollow-Up StudiesAtherosclerosis
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Persistent leisure-time physical activity in adulthood and use of antidepressants : A follow-up study among twins

2016

BACKGROUND: To study whether persistent leisure-time physical activity (PA) during adulthood predicts use of antidepressants later in life. METHODS: The Finnish Twin Cohort comprises same-sex twin pairs born before 1958, of whom 11 325 individuals answered PA questions in 1975, 1981 and 1990 at a mean age of 44 years (range 33-60). PA volume over 15-years was used as the predictor of subsequent use of antidepressants. Antidepressant use (measured as number of purchases) for 1995-2004 were collected from the Finnish Social Insurance Institution (KELA) prescription register. Conditional logistic regression was conducted to calculate odds ratios (OR) with 95% confidence intervals (CI) for the …

AdultMaleRiskmedicine.medical_specialtyeducationTwinsBinge drinkingPoison controlphysical activityLower risk03 medical and health sciences0302 clinical medicineLeisure ActivitiesInjury preventionmedicinefollow-upHumans030212 general & internal medicinePsychiatryta315ExerciseDepression (differential diagnoses)FinlandDepressive Disorderjoutilaisuusta3141Odds ratioMiddle AgedConfidence intervalAntidepressive Agents3142 Public health care science environmental and occupational healthkaksosetPsychiatry and Mental healthClinical PsychologyinactivityantidepressantsCohortdepressionFemalegeneticPsychology030217 neurology & neurosurgeryDemographyFollow-Up Studies
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The HLA locus and multiple sclerosis in Sicily

2005

The authors report the analysis of HLA-class II allelic heterogeneity in a well characterized multiple sclerosis (MS) Sicilian dataset. Family-based association analysis revealed evidence for excess transmission to affected individuals for alleles HLA-DRB1*1501, DRB1*04, and DQB1*0302. When analyzed as haplotypes, the authors observed excess transmission for the DRB1*0400-DQB1*0302 haplotype. Sicilian patients share the HLA-DRB1*1501 susceptibility allele with affecteds living in continental Italy, but also display the allelic heterogeneity that characterizes Mediterranean populations.

AdultMaleRiskmusculoskeletal diseasesMultiple SclerosisAdolescentGenes MHC Class IILocus (genetics)Human leukocyte antigenBiologySeverity of Illness IndexLinkage DisequilibriumCohort StudiesDisability EvaluationGene Frequencyimmune system diseasesMultiple Sclerosis/epidemiologyPrevalencemedicineHumansGenetic Predisposition to DiseaseAge of OnsetAlleleskin and connective tissue diseasesSicilyAllelesGenetic associationGeneticsHLA-D AntigensIncidenceMultiple sclerosisHaplotypeGene Poolmedicine.diseaselanguage.human_languageSettore BIO/18 - GeneticaHaplotypeslanguageFemaleAllelic heterogeneitySettore MED/26 - NeurologiaNeurology (clinical)Sicilian
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[Anxiety, depression and risk consumption of alcohol in a sample of university students].

2018

The university student is vulnerable to the adverse effects of many stress factors that can lead to depressive symptoms, anxiety and alcohol abuse, causing an increase in the burden of illness in young people. The aim of the study was to measure depressive symptoms, anxiety levels, and harmful alcohol consumption within the student population of the University of Palermo.An online questionnaire was sent by e-mail to the 8500 students enrolled in the (ERSU) Regional Office for the Right to University Study's mailing list in Palermo. It was evaluated the severity of depressive symptoms through the Quick Inventory of Depressive Symptomatology-Self Report, anxiety symptoms using the Beck Anxiet…

AdultMaleRiskstudentAlcohol DrinkingUniversitiesmood disorderSex FactorAnxietyYoung AdultRisk-TakingSex FactorsuniversitySurveys and Questionnairesanxiety disorderSurveys and QuestionnaireHumansStudentsPsychiatric Status Rating ScalesDepressive DisorderalcoholDepressionUniversitiePsychiatric Status Rating ScaleAnxiety DisordersItalyFemaleHumanRivista di psichiatria
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Methodological considerations to determine the effect of exercise on brain-derived neurotrophic factor levels.

2015

Objectives: Physical exercise up-regulates brain-derived neurotrophic factor (BDNF) in the brain and blood. However, there is yet no consensus about the adequate blood processing conditions to standardize its assessment. We aimed to find a reliable blood sample processing method to determine changes in BDNF due to exercise. Design and methods: Twelve healthy university students performed an incremental cycling test to exhaustion. At baseline, immediately after exercise, and 30 and 60 min of recovery, venous blood was drawn and processed under different conditions, i.e. whole blood, serum coagulated for 10 min and 24 h, total plasma, and platelet-free plasma. BDNF concentration was measured …

AdultMaleSerummedicine.medical_specialtyHemoconcentrationClinical BiochemistryPhysical exerciseHemoconcentraciónPlasmaEnzyme-linked immunosorbent assayNeurotrophic factorsInternal medicinePlasma sanguineoSurveys and QuestionnairesMedicineHumansPlateletEducación físicaExerciseWhole bloodBrain-derived neurotrophic factorBlood Specimen Collectionbusiness.industryBrain-Derived Neurotrophic FactorGeneral MedicineVenous bloodHemoconcentrationWhole bloodEndocrinologyHomogeneousbusinessEnergy MetabolismClinical biochemistry
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Autologous whole blood injections to patients with chronic urticaria and a positive autologous serum skin test: a placebo-controlled trial.

2005

<i>Background:</i> Patients with chronic urticaria (CU) frequently exhibit positive skin test reactions to autologous serum (ASST). Therapies aimed at inducing tolerance to circulating histamine-releasing factors in ASST+ CU patients, e.g. by treatment with autologous whole blood (AWB), have not yet been tested. <i>Objective:</i> To test whether ASST+ CU patients can benefit from repeated low-dose intramuscular injections of AWB. <i>Methods:</i> We characterized CU severity and duration, anti-Fc<sub>Ε</sub>RI and anti-IgE expression, use of antihistamines, and quality of life in 56 CU patients (ASST+: 35, ASST–: 21) and assessed the t…

AdultMaleSerummedicine.medical_specialtyUrticariaImmunoblottingPlacebo-controlled studyEnzyme-Linked Immunosorbent AssayDermatologymedicine.disease_causePlaceboGastroenterologyAutoimmunityAutohemotherapyBlood Transfusion AutologousInternal medicinemedicineHumansSingle-Blind MethodProspective StudiesChronic urticariaWhole bloodSkin Testsbusiness.industryReceptors IgEImmunoglobulin EMiddle AgedSurgeryAntibodies Anti-IdiotypicClinical trialTreatment OutcomePatient SatisfactionChronic DiseaseQuality of LifeAutologous serum skin testFemalebusinessFollow-Up StudiesDermatology (Basel, Switzerland)
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