Search results for " onset"

showing 10 items of 418 documents

Tyrosine hydroxylase Val-81-Met polymorphism associated with early-onset alcoholism

2005

The present study examined the association of the Tyrosine hydroxylase Val-81-Met polymorphism with alcohol dependence. One hundred and fifty-nine patients in a psychiatric unit with alcohol dependence were genotyped as well as 92 healthy volunteers. The Val allele was more frequent in patients with alcohol dependence (69.5%) than in controls (62.5%). This effect was largely due to the association with early-onset alcoholism (77.8%), whereas no difference was noted between late-onset patients and controls. Our results suggest a role for tyrosine hydroxylase in early-onset alcoholism.

Adultmedicine.medical_specialtyGenotypeTyrosine 3-MonooxygenaseMutation MissensePolymerase Chain ReactionPolymorphism Single Nucleotidechemistry.chemical_compoundMethionineReference ValuesInternal medicineGenotypeGeneticsHumansMedicineMissense mutationAge of OnsetAlleleBiological PsychiatryGenetics (clinical)DNA PrimersEarly onsetMethionineBase SequenceTyrosine hydroxylasebusiness.industryAlcohol dependenceValineAlcoholismPsychiatry and Mental healthEndocrinologychemistryAge of onsetbusinessPolymorphism Restriction Fragment LengthPsychiatric Genetics
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Increased level of H-ferritin and its imbalance with L-ferritin, in bone marrow and liver of patients with adult onset Still's disease, developing ma…

2015

In this paper, we aimed to evaluate the levels of ferritin enriched in H subunits (H-ferritin) and ferritin enriched in L subunits (L-ferritin) and the cells expressing these 2 molecules, in the bone marrow (BM) and liver biopsies obtained from adult onset Still's disease (AOSD) patients who developed macrophage activation syndrome (MAS), and correlating these data with the severity of the disease. Twenty-one patients with MAS-associated AOSD underwent BM biopsy and among them, 9 patients with hepatomegaly and elevated liver enzymes underwent liver biopsy. All the samples were stained by both immunohistochemistry and immunofluorescence. A statistical analysis was performed to estimate the p…

Adult-OnsetAdultPathologymedicine.medical_specialtyApoferritinImmunologyAdult-onset Still's disease; Hyperferritinemia; Macrophage activation syndrome; Adult; Age of Onset; Animals; Apoferritins; Bone Marrow; Humans; Liver; Macrophage Activation Syndrome; Still's Disease Adult-Onset; Immunology; Immunology and Allergy; Medicine (all)ImmunofluorescenceAdult-onset Still's diseaseBone MarrowBiopsymedicineAnimalsHumansImmunology and AllergyAge of Onsetmedicine.diagnostic_testbiologyCD68business.industryAnimalMacrophage Activation SyndromeMedicine (all)medicine.diseaseStill's DiseaseFerritinmedicine.anatomical_structureLiverMacrophage activation syndromeLiver biopsyApoferritinsbiology.proteinImmunohistochemistryBone marrowHyperferritinemiabusinessStill's Disease Adult-OnsetHuman
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Treatment of Recent-Onset Type 1 Diabetic Patients With DiaPep277: Results of a Double-Blind, Placebo-Controlled, Randomized Phase 3 Trial.

2014

OBJECTIVE To evaluate safety and efficacy of DiaPep277 in preserving β-cell function in type 1 diabetic patients. RESEARCH DESIGN AND METHODS DIA-AID 1 is a multinational, phase 3, balanced-randomized, double-blind, placebo-controlled, parallel-group clinical study. Newly diagnosed patients (N = 457, aged 16–45 years) were randomized to subcutaneous injections of DiaPep277 or placebo quarterly for 2 years. The primary efficacy end point was the change from baseline in the area under the glucagon-stimulated C-peptide curve. Secondary end points were the change from baseline in mixed-meal stimulated C-peptide secretion and in fasting C-peptide and achieving target HbA1c ≤7% (≤53 mmol/mol). P…

Advanced and Specialized NursingResearch designType 1 diabetesmedicine.medical_specialtybusiness.industryEndocrinology Diabetes and MetabolismInsulinmedicine.medical_treatmentPlacebomedicine.diseaseGastroenterologySurgeryDouble blindType 1 diabetesInternal medicineDiabetes mellitusInternal MedicinemedicineRecent onsetbusinessGlycemic
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Late onset of unilateral optic disk edema secondary to treatment with imatinib mesylate

2017

Key Clinical Message Prompt ophthalmology evaluation and immediate imatinib suspension should be suggested at any time of tyrosine kinase inhibitor therapy in patients with visual deficit, as it may be a clinical manifestation of optic disk edema, and suspension may help in prompt recovery.

Adverse event0301 basic medicinegenetic structuresmedicine.drug_classOptic Disk EdemaLate onsetCase ReportClinical manifestationCase ReportsTyrosine-kinase inhibitor03 medical and health sciences0302 clinical medicinechronic myeloid leukemiatyrosine kinase inhibitorsmedicineIn patientAdverse effectbusiness.industryoptic disk edemaImatinibGeneral Medicineeye diseases030104 developmental biologyImatinib mesylateimatiniboptic nerve edemaAnesthesiaAdverse events030221 ophthalmology & optometrybusinessmedicine.drugClinical Case Reports
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Obesity and new-onset atrial fibrillation in acute myocardial infarction: a gender specific risk factor

2014

Aged 80 and overMaleSex Characteristicsmedicine.medical_specialtybusiness.industryMyocardial InfarctionSpecific riskAtrial fibrillationMiddle Agedmedicine.diseaseObesityNew onset atrial fibrillationRisk FactorsInternal medicineAtrial FibrillationmedicineCardiologyHumansFemaleObesityMyocardial infarctionCardiology and Cardiovascular MedicinebusinessAgedInternational Journal of Cardiology
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Brain aging and late-onset Alzheimer's disease: many open questions.

2012

ABSTRACTDespite decades of research in the field of Alzheimer's disease (AD), a real understanding of its molecular pathophysiology and treatments relevant to the day-to-day lives of patients remain out of reach. Research has, with good reason, focused on certain key pathways and potential mechanisms, but sometimes this has been at the expense of work on other theories, which may be slowing down progress in this field. Interesting theories at present include oxidative stress and caloric restriction. Work on the Aβ cascade should continue but with a shift in focus to its intracellular effects and an awareness that additional pathogenetic factors and processes must be involved – most importan…

AgingHyperphosphorylationLate onsettau ProteinsDiseaseEpigenesis GeneticAmyloid beta-Protein PrecursorAlzheimer DiseaseIntervention (counseling)MedicineDementiaAnimalsHumansEpigeneticsCaloric Restrictionbusiness.industryNeurodegenerationBrainmedicine.diseasePsychiatry and Mental healthClinical PsychologyOxidative StressGeriatrics and GerontologyAlzheimer's diseasebusinessGerontologyNeuroscienceInternational psychogeriatrics
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Metabolic impact of adult-onset, isolated, growth hormone deficiency (AOiGHD) due to destruction of pituitary somatotropes.

2011

Growth hormone (GH) inhibits fat accumulation and promotes protein accretion, therefore the fall in GH observed with weight gain and normal aging may contribute to metabolic dysfunction. To directly test this hypothesis a novel mouse model of adult onset-isolated GH deficiency (AOiGHD) was generated by cross breeding rat GH promoter-driven Cre recombinase mice (Cre) with inducible diphtheria toxin receptor mice (iDTR) and treating adult Cre(+/-), iDTR(+/-) offspring with DT to selectively destroy the somatotrope population of the anterior pituitary gland, leading to a reduction in circulating GH and IGF-I levels. DT-treated Cre(-/-), iDTR(+/-) mice were used as GH-intact controls. AOiGHD im…

Anatomy and PhysiologyMousemedicine.medical_treatmentgh deficiencyMiceEndocrinology0302 clinical medicinefactor-iInsulinglucoseAge of OnsetInsulin-Like Growth Factor I2. Zero hunger0303 health scienceseducation.field_of_studyMultidisciplinarypancreatic beta-cellQRAnimal ModelsGHreceptor genehypothalamic expressionmedicine.anatomical_structureCarbohydrate MetabolismIntercellular Signaling Peptides and ProteinsMedicineincreased insulin sensitivityResearch ArticleHeparin-binding EGF-like Growth Factormedicine.medical_specialtymicediet-induced obesityDisfunción metabólicaSomatotropic cellSciencePopulationEndocrine System030209 endocrinology & metabolismBiologyCarbohydrate metabolismGrowth hormone deficiency03 medical and health sciencesModel OrganismsInsulin resistanceAnterior pituitaryreplacement therapyPituitary Gland AnteriorGrowth FactorsInternal medicinemedicineAnimalsObesityeducationBiologyNutrition030304 developmental biologyDiabetic EndocrinologyEndocrine PhysiologyInsulinDiabetes Mellitus Type 2Metabolyc disfunctionmedicine.diseaseHormonesMice Mutant StrainsSomatotrophsProlactinDietRatsDisease Models AnimalEndocrinologyPituitaryGrowth HormoneInsulin ResistanceEnergy IntakeEnergy MetabolismGHDPLoS ONE
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Poor Esophageal Motility: A Tailored Approach?

2014

New onset dysphagia following antireflux surgery is among the most undesirable side effects of an otherwise excellent therapy. While its cause is multifactorial, insufficient circular muscle strength of the esophageal body, not powerful enough to force the bolus through the distal neo-high pressure zone, can be a component of the pathophysiology. The relative merits of “tailoring” the degree of fundoplication based upon esophageal body motility and/or other clinical features have been debated for decades. Herein we discuss the rationale for a tailored approach, its pros and cons and review data published to date available to guide the clinician in individual patient decision-making.

Antireflux surgerymedicine.medical_specialtyTailored approachbusiness.industryEsophageal bodyDysphagiaNew onsetPoor esophageal motilityCircular musclemedicinemedicine.symptomIntensive care medicinebusinessPartial fundoplication
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Gender-related effect of clinical and genetic variables on the cognitive impairment in multiple sclerosis

2004

BACKGROUND: Cognitive impairment may occur at any time during the course of multiple sclerosis (MS), and it is often a major cause of disability in patients with the disease. The APOE-epsilon4 allele is the major known genetic risk factor for late onset familial and sporadic Alzheimer's Disease (AD), and it seems to be implicated in cognitive decline in normal elderly persons. OBJECTIVE: To investigate the clinical and genetic variables that can be associated with the cognitive decline in patients with MS. METHODS: Five-hundred and three patients with clinically definite MS underwent a battery of neuropsychological tests and, according to the number of failed tests, were divided into cognit…

Apolipoprotein EAdultMalemedicine.medical_specialtyPediatricsNeurologyMultiple SclerosisMessengerLate onsetDiseaseNeuropsychological TestsApolipoproteins EmedicineOdds RatioHumansRNA MessengerCognitive declineAllelePsychiatrycognitive impairmentAPOE; Cognitive impairment; Multiple sclerosisAnalysis of VarianceSex CharacteristicsChi-Square DistributionReverse Transcriptase Polymerase Chain ReactionMultiple sclerosisCognitive disorderGenetic VariationMiddle Agedmedicine.diseasemultiple sclerosis cognitive impairment gender geneticNeurologyGenetic Variation; Odds Ratio; Analysis of Variance; Sex Characteristics; Chi-Square Distribution; Humans; Apolipoproteins E; Reverse Transcriptase Polymerase Chain Reaction; Cognition Disorders; RNA Messenger; Multiple Sclerosis; Adult; Middle Aged; Neuropsychological Tests; Female; MaleRNAFemaleSettore MED/26 - NeurologiaNeurology (clinical)Psychologymultiple sclerosis · cognitive impairment · APOECognition DisordersAPOE
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An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease.

2011

This paper addresses a tenet of the literature on APOE, i.e., the relationship between the effects of the e4, one of the established genetic risk factor for Alzheimer's disease (AD), and its expression levels as determined by APOE promoter polymorphisms. Five polymorphisms (-491 rs449647, -427 rs769446, -219 rs405509, and e rs429358-rs7412) were studied in 1308 AD patients and 1082 control individuals from the Central-Northern Italy. Major findings of the present study are the following: 1) the variants -219T and e4 increase the risk for late onset AD (LOAD) when they are both present in cis on the same chromosome (in phase); 2) the correlation between the haplotype (-219T/e4) and AD risk p…

Apolipoprotein EMaleLinkage disequilibriumGENETICSApolipoprotein E4Late onsetGenome-wide association studyBiologyPolymorphism Single NucleotideLinkage DisequilibriumAlzheimer DiseaseRisk FactorsmedicineHumansGenetic Predisposition to DiseaseLongitudinal StudiesAlleleGeneticsChi-Square DistributionGeneral NeuroscienceHaplotypeAge FactorsGeneral MedicineSingle Nucleotidemedicine.diseasePOLYMORPHISMPsychiatry and Mental healthClinical PsychologyHaplotypesItalyFemaleApolipoprotein EGeriatrics and GerontologyAlzheimer's diseaseAge of onsetGenome-Wide Association StudyJournal of Alzheimer's disease : JAD
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