Search results for "onset."

showing 10 items of 478 documents

Clinical benefit of vedolizumab on articular manifestations in patients with active spondyloarthritis associated with inflammatory bowel disease.

2017

Vedolizumab (VDZ) is a new biological agent which was recently approved for the treatment of inflammatory bowel disease (IBD)1 following the good clinical responses reported by clinical trials for both Crohn's disease2 and ulcerative colitis.3 However, the effects of VDZ on extraintestinal manifestations were not reported in these trials, and the ‘real life’ experience is still limited. On these premises, we read with interest the recent work by Varkas et al 4 reporting a series of five patients with IBD who were treated with VDZ and promptly developed new onset or exacerbation of spondyloarthritis (SpA), irrespective of the response to treatment on intestinal symptoms. Although the hypothe…

Genetics and Molecular Biology (all)medicine.medical_specialtyExacerbationT CellImmunologyPremisesAntibodies Monoclonal HumanizedBiochemistryInflammatory bowel diseaseGastroenterologyGeneral Biochemistry Genetics and Molecular BiologyNew onsetVedolizumab03 medical and health sciences0302 clinical medicineRheumatologyInternal medicineSpondylarthritismedicineImmunology and AllergyHumansIn patientSacroiliitis030203 arthritis & rheumatologyBiochemistry Genetics and Molecular Biology (all)business.industrymedicine.diseaseInflammatory Bowel Diseasesdigestive system diseasesRheumatologyTreatmentClinical trial030211 gastroenterology & hepatologySpondyloarthritis; T Cells; Treatment; Rheumatology; Immunology and Allergy; Immunology; Biochemistry Genetics and Molecular Biology (all)Spondyloarthritibusinessmedicine.drugAnnals of the rheumatic diseases
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Morphological studies in canine (Dalmatian) neuronal ceroid-lipofuscinosis.

1988

Dalmatian dogs may develop a neuronal or generalized ceroid-lipofuscinosis (NCL) which strongly resembles that seen in English setters, especially as to the ultrastructural changes and ubiquity of the stored lipopigments and the retinal pathology, while differing clinically from the disorder of English setters in that the disease has a longer course of up to 5 or 6 yr. Clinical onset is at about age 6 months; however, an unequivocal morphological diagnosis is possible between the 4th and 5th month of life in biopsied skin. Detailed data of additional investigations are in progress and are awaiting later publication. Thus, NCL in the Dalmatian dog, though not yet as thoroughly investigated a…

GeneticsPathologymedicine.medical_specialtyAutosomal recessive inheritanceDuodenumBrainMuscle SmoothDiseaseDetailed dataBiologymedicine.diseaseClinical onsetRetinaDalmatian dogMicroscopy ElectronDogsNeuronal Ceroid-LipofuscinosesmedicineAnimalsNeuronal ceroid lipofuscinosisPhotoreceptor CellsCanine SpeciesDog DiseasesRetinal pathologyGenetics (clinical)American journal of medical genetics. Supplement
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Molecular Analysis of the Supramolecular Usher Protein Complex in the Retina

2007

Human Usher syndrome (USH) is the most common form of deaf-blindness and also the most frequent case of recessive retinitis pigmentosa. According to the degree of the clinical symptoms, three different types of the Usher syndrome are distinguished: USH1, USH2 and USH3 (Davenport and Omenn, 1977). USH is genetically heterogeneous with eleven chromosomal loci, which can be assigned to the three USH types (USH1A-G, USH2A-C, USH3A) (Petit, 2001). Out of these, USH1 is the most severe form, characterized by profound congenital deafness, constant vestibular dysfunction and prepubertal-onset retinitis pigmentosa. USH2 patients show a milder congenital deafness, a slightly later onset of retinitis …

GeneticsScaffold proteinGenetic heterogeneityHearing lossUsher syndromePDZ domainLate onsetBiologymedicine.diseasePhenotypeRetinitis pigmentosaotorhinolaryngologic diseasesmedicinemedicine.symptom
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Estudio genético molecular del síndrome de Usher en España

2005

Usher syndrome (USH) associates deafness and retinitis pigmentosa (RP). It is a disease both clinically and genetically heterogeneous. It is inherited as an autosomal recessive trait and its prevalence makes it the most frequent association of hearing loss and RP. Clinically Usher syndrome is divided into type I (USH1), II (USH2) and III (USH3), according to the severity of hearing loss, age of onset of RP and the existence or not of vestibular dysfunction. There are at least 7 different localizations for USH1 and 5 genes have been identified. For USH2, 3 loci and 2 genes have been reported and USH3 is due to Clarin-1 gene. Our aim is to perform a clinical and genetic characterization of al…

Geneticsmedicine.medical_specialtyGenetic heterogeneitybusiness.industryHearing lossUsher syndromeDiseaseAudiologymedicine.diseaseeye diseasesAutosomal recessive traitOtorhinolaryngologyRetinitis pigmentosaotorhinolaryngologic diseasesmedicineVestibular dysfunctionAge of onsetmedicine.symptombusinessActa Otorrinolaringológica Española
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No Association Between the Dopamine D2 Receptor Taq I A1 Allele and Earlier Age of Onset of Alcohol Dependence According to Different Specified Crite…

2001

BACKGROUND: The presence of the A1 allele of the dopamine D2 receptor TaqI restriction fragment length polymorphism has been reported to be associated with an earlier age of onset of alcohol dependence as a marker for severity. METHODS: We tested this hypothesis with special regard to the definition of the age of onset of alcoholism in 243 patients with alcohol dependence, according to DSM-IV criteria assessed by the standardized interview Munchner Composite International Diagnostic Interview (M-CIDI), consecutively admitted for detoxification. Additionally, the Addiction Severity Index (ASI) was performed. The TaqIA polymorphism was amplified by polymerase chain reaction (PCR), and the PCR…

Geneticsmedicine.medical_specialtyTaqIAlcohol dependenceMedicine (miscellaneous)Binge drinkingToxicologyPsychiatry and Mental healthchemistry.chemical_compoundchemistryPolymorphism (computer science)Internal medicinemedicineAlleleAge of onsetRestriction fragment length polymorphismPsychologyAllele frequencyAlcoholism: Clinical and Experimental Research
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Quality of Life and Resilience of Patients With Juvenile Stroke: A Systematic Review.

2020

Abstract Background The incidence of juvenile stroke is increasing. Considering younger age of patients and the potential long-lasting disability, the consequences of juvenile stroke may have a greater societal impact than those of stroke in elder population. Methods A systematic review was performed in order to evaluate quality of life in juvenile stroke. All studies on quality of life in juvenile stroke published in PUBMED before March 1st, 2020. The search terms were “stroke”, “juvenile”, “young”, “adult”, “quality of life” and “resilience” were considered. After the abstract evaluation of 748 hits only six studies we identified as appropriate for the review. The age criterion for juveni…

GerontologyAdultMaleAdolescentmedicine.medical_treatmentHealth StatusPopulationEmotions03 medical and health sciencesSocial supportYoung Adult0302 clinical medicineQuality of lifeRisk FactorsmedicineJuvenileHumanscardiovascular diseasesAge of OnseteducationStrokeScreening proceduresDepression (differential diagnoses)education.field_of_studyRehabilitationbusiness.industryIncidenceRehabilitationMiddle AgedResilience Psychologicalmedicine.diseasePrognosisStrokeMental HealthQuality of LifeSurgeryFemaleNeurology (clinical)Cardiology and Cardiovascular Medicinebusiness030217 neurology & neurosurgeryJournal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
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Interventions to Slow Aging in Humans: Are We Ready?

2015

The workshop entitled 'Interventions to Slow Aging in Humans: Are We Ready?' was held in Erice, Italy, on October 8-13, 2013, to bring together leading experts in the biology and genetics of aging and obtain a consensus related to the discovery and development of safe interventions to slow aging and increase healthy lifespan in humans. There was consensus that there is sufficient evidence that aging interventions will delay and prevent disease onset for many chronic conditions of adult and old age. Essential pathways have been identified, and behavioral, dietary, and pharmacologic approaches have emerged. Although many gene targets and drugs were discussed and there was not complete consens…

GerontologyAgingDisease onsetPrescription DrugsLongevityPsychological interventionReviewsBiologyAMP-Activated Protein KinasesGrowth hormoneAging; Anti-aging; Centenarians; Dietary restriction; Lifespan studies; Longevity gene; Longevity regulation; Cell Biology; AgingDietary interventionsBiological FactorsMicelongevity geneSettore BIO/13 - Biologia ApplicataAnimalsHumansSirtuinsProtein restrictionCentenarianInsulin-Like Growth Factor ILifespan studieCaloric RestrictionSettore MED/04 - Patologia GeneraleGeroscienceGene targetsRibosomal Protein S6 KinasesTOR Serine-Threonine Kinasesanti-agingdietary restrictionCell Biologydietary restriction ; lifespan studies ; longevity gene ; centenarians ; anti-aging ; longevity regulation ; aginglongevity regulation3. Good healthDietEnzyme ActivationGene Expression RegulationGrowth HormoneGenetics of agingcentenariansaging; anti-aging; centenarians; dietary restriction; lifespan studies; longevity gene; longevity regulationSignal Transductionlifespan studies
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Modifiable Lifestyle Factors and Cognitive Function in Older People: A Cross-Sectional Observational Study

2019

Background: The development of evidence-based interventions for delaying or preventing cognitive impairment is an important challenge. Most previous studies using self-report questionnaires face problems with reliability and consistency due to recall bias or misclassification among older people. Therefore, objective measurement of lifestyle components is needed to confirm the relationships between lifestyle factors and cognitive function. Aims: The current study examined the relationship between lifestyle factors collected with wearable sensors and cognitive function among community-dwelling older people using machine learning. Methods: In total, 855 participants (mean age: 73.8 years) wore…

GerontologyCross-sectional studywearable sensorlcsh:RC346-42903 medical and health sciences0302 clinical medicineRecall biascross-sectional studyMedicine030212 general & internal medicineRisk factorcognitive functionlcsh:Neurology. Diseases of the nervous systemOriginal ResearchMini–Mental State Examinationmedicine.diagnostic_testbusiness.industryrandom forest regression analysisConfoundinglifestyle factorsCognitionRegression analysisNeurologymini-mental state examinationNeurology (clinical)Sleep onsetbusiness030217 neurology & neurosurgeryFrontiers in Neurology
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The Latvian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR).

2017

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Latvian language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their paren…

GerontologyMaleParentsDisease statusHealth StatusHealth-related quality of lifeArthritisDisease status; Functional ability; Health-related quality of life; JAMAR; Juvenile idiopathic arthritis; Rheumatology; Immunology and Allergy; ImmunologyDisability Evaluation0302 clinical medicineImmunology and AllergyFunctional abilityAge of OnsetChildJAMARPrognosisChild PreschoollanguageFemalemedicine.medical_specialtyDisease statusAdolescentPatientsPsychometricsImmunologyMultidimensional assessment03 medical and health sciencesRheumatologyPredictive Value of Tests030225 pediatricsInternal medicinemedicineJuvenileHumansPatient Reported Outcome MeasuresValidation Studies030203 arthritis & rheumatologyHealth related quality of lifeCultural Characteristicsbusiness.industryLatvianReproducibility of ResultsTranslatingJuvenile idiopathic arthritismedicine.diseaseLatviaFunctional abilityRheumatologylanguage.human_languageArthritis JuvenileCase-Control StudiesQuality of LifebusinessRheumatology international
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The Italian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

2018

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Italian language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their paren…

GerontologyMaleParentsPatient Reported Outcome MeasurePsychometricsHealth StatusArthritisJuvenilePredictive Value of TestHealth StatuDisability Evaluation0302 clinical medicineMedicineImmunology and AllergyFunctional abilityAge of OnsetChildJAMARPatientPrognosisDisease status; Functional ability; Health Related Quality of Life; JAMAR; Juvenile idiopathic arthritis; Adolescent; Age of Onset; Arthritis Juvenile; Case-Control Studies; Child; Child Preschool; Cultural Characteristics; Female; Health Status; Humans; Italy; Male; Parents; Patients; Predictive Value of Tests; Prognosis; Psychometrics; Quality of Life; Reproducibility of Results; Rheumatology; Translating; Disability Evaluation; Patient Reported Outcome MeasuresCultural CharacteristicSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAItalyChild PreschoolPredictive value of testsFemaleCase-Control StudiePsychometricHumanmedicine.medical_specialtyDisease statusAdolescentPatientsPsychometricsPrognosiImmunologyReproducibility of ResultDisease status; Functional ability; Health Related Quality of Life; JAMAR; Juvenile idiopathic arthritis; Rheumatology; Immunology and Allergy; Immunology03 medical and health sciencesJuvenile idiopathic arthritiQuality of life (healthcare)RheumatologyDisease status Functional ability Health Related Quality of Life JAMAR Juvenile idiopathic arthritis Adolescent Age of Onset Arthritis Juvenile Case-Control Studies Child Child Preschool Cultural Characteristics Female Health Status Humans Italy Male Parents Patients Predictive Value of Tests Prognosis Psychometrics Quality of Life Reproducibility of Results Rheumatology Translating Disability Evaluation Patient Reported Outcome MeasuresPredictive Value of Tests030225 pediatricsInternal medicineJuvenileHumansValidation StudiesPatient Reported Outcome MeasuresDisease statuPreschool030203 arthritis & rheumatologyCultural Characteristicsbusiness.industryArthritisReproducibility of ResultsHealth Related Quality of LifeTranslatingJuvenile idiopathic arthritismedicine.diseaseFunctional abilityArthritis JuvenileRheumatologyParentCase-Control StudiesQuality of LifeAge of onsetbusiness
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