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showing 10 items of 4920 documents

PTPN22 and CTLA-4 Polymorphisms Are Associated With Polyglandular Autoimmunity

2017

Context Single nucleotide polymorphisms (SNPs) of various genes increase susceptibility to monoglandular autoimmunity. Data on autoimmune polyglandular syndromes (APSs) are scarce. Objective Evaluate potential associations of eight SNPs with APSs. Setting Academic referral endocrine clinic. Patients A total of 543 patients with APS and monoglandular autoimmunity and controls. Intervention The SNP protein tyrosine phosphatase nonreceptor type 22 (PTPN22) rs2476601 (+1858); cytotoxic T-lymphocyte‒associated antigen 4 (CTLA-4) rs3087243 (CT60) and rs231775 (AG49); vitamin D receptor (VDR) rs1544410 (Bsm I), rs7975232 (Apa I), rs731236 (Taq I); tumor necrosis factor α rs1800630 (-863); and inte…

AdultMale0301 basic medicinemedicine.medical_specialtyGenotypeEndocrinology Diabetes and MetabolismGraves' diseaseClinical Biochemistry030209 endocrinology & metabolismSingle-nucleotide polymorphismPolymorphism Single NucleotideBiochemistryCalcitriol receptorPTPN22Young Adult03 medical and health sciences0302 clinical medicineEndocrinologyGene FrequencyInternal medicinemedicineHumansCTLA-4 AntigenGenetic Predisposition to DiseasePolyendocrinopathies AutoimmuneAllele frequencyGenetic Association Studiesbusiness.industryBiochemistry (medical)HaplotypeCase-control studyProtein Tyrosine Phosphatase Non-Receptor Type 22Odds ratioMiddle Agedmedicine.disease030104 developmental biologyEndocrinologyCase-Control StudiesFemalebusinessThe Journal of Clinical Endocrinology & Metabolism
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Application of tRNS to improve multiple sclerosis fatigue: a pilot, single-blind, sham-controlled study

2019

We evaluated the effects of transcranial random noise stimulation (tRNS) on fatigue in 17 subjects with relapsing–remitting multiple sclerosis with low physical disability. Two different patient groups underwent real or sham stimulation for 10 days, targeting the primary motor cortex of the dominant side or contralateral to the most compromised limb. In the ‘real group’, beneficial effects were observed using the Modified Fatigue Impact Scale (p = 0.04; physical subscale: p = 0.03), the subscales ‘change in health’ (p = 0.006) and ‘role limitations due to physical problems’ (p = 0.001) of the Multiple Sclerosis Quality of Life-54, and by assessing the patient impression of perceived fatigue…

AdultMale0301 basic medicinemedicine.medical_specialtyPhysical disabilityNeurologyFatigue treatmentStimulationTranscranial Direct Current StimulationSeverity of Illness IndexPlacebosYoung Adult03 medical and health sciencesMultiple Sclerosis Relapsing-Remitting0302 clinical medicinePhysical medicine and rehabilitationOutcome Assessment Health CaremedicineHumansMultiple sclerosiSingle-Blind MethodBeneficial effectsFatigueBiological Psychiatrybusiness.industryMSQoL-54Multiple sclerosisMotor CortextRNSmedicine.diseaseFatigue impact scalePsychiatry and Mental health030104 developmental biologyPrimary motor areaNeurologyQuality of LifeFemaleMFISNeurology (clinical)Single blindPrimary motor cortexbusiness030217 neurology & neurosurgeryJournal of Neural Transmission
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THE VITAMIN D RECEPTOR TAQ I POLYMORPHISM IS ASSOCIATED WITH REDUCED VDR AND INCREASED PDIA3 PROTEIN LEVELS IN HUMAN INTESTINAL FIBROBLASTS

2020

The synonymous single nucleotide polymorphism (SNP) rs731236, located in the vitamin D receptor (VDR) gene (Taq I) has been associated with both decreased levels of the protein in peripheral blood mononuclear cells and a fibrosis-related complication in Crohn´s disease (CD). Interactions between VDR and a protein-disulfide isomerase-associated 3 (PDIA3) in the regulation of extracellular matrix have been reported and we aim to analyze the relevance of the VDR genotypes and the effects of Vitamin D (VD) in the expression of VDR, PDIA3 and proliferation of intestinal fibroblasts. Human intestinal fibroblasts were isolated from the non-affected surgical resections of colorectal patients and cl…

AdultMale0301 basic medicinemusculoskeletal diseasesAdolescentGenotypeEndocrinology Diabetes and MetabolismClinical BiochemistryProtein Disulfide-IsomerasesPDIA3BiologyPDIA3Polymorphism Single NucleotideBiochemistryPeripheral blood mononuclear cellCalcitriol receptorFibroblast migrationExtracellular matrixYoung Adult03 medical and health sciences0302 clinical medicineEndocrinologyVitamin D and neurologypolycyclic compoundsHumansGene silencingVitamin DMolecular BiologyAllelesCells CulturedCell ProliferationVDRdigestive oral and skin physiologyCell BiologyTransfectionFibroblastsMolecular biologySingle nucleotide polymorphismIntestines030104 developmental biologyCrohn ' s disease030220 oncology & carcinogenesisReceptors CalcitriolMolecular MedicineFemalelipids (amino acids peptides and proteins)Crohn´s diseaseTaq IJournal of steroid biochemistry and molecular biology
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Impact of hypertonic saline nebulisation combined with oscillatory positive expiratory pressure on sputum expectoration and related symptoms in cysti…

2018

Abstract Objective To evaluate the impact of combining nebulised hyaluronic acid plus hypertonic saline (HA + HS) with oscillatory positive expiratory pressure (oscillatory-PEP) on sputum expectoration and related symptoms in adults with cystic fibrosis (CF). Design Randomised crossover trial. Setting Seven centres. Participants Twenty-two outpatients with CF. Interventions Usual care (HA + HS followed by autogenic drainage) and combined therapy (HA + HS with oscillatory-PEP followed by autogenic drainage]. Each treatment was performed for 5 days. Main outcome measures Sputum expectoration was measured during the nebulisation period (primary outcome), during autogenic drainage and for 24 ho…

AdultMale030506 rehabilitationAdolescentCystic FibrosisPhysical Therapy Sports Therapy and RehabilitationCystic fibrosisPulmonary function testingPositive-Pressure RespirationYoung Adult03 medical and health sciences0302 clinical medicineAdministration InhalationmedicineHumansSingle-Blind Method030212 general & internal medicineHyaluronic AcidAdverse effectSaline Solution HypertonicCross-Over Studiesbusiness.industryNebulizers and VaporizersSputummedicine.diseaseCombined Modality TherapyCrossover studyConfidence intervalRespiratory Function TestsHypertonic salineClinical trialAnesthesiaSputumFemalemedicine.symptom0305 other medical sciencebusinessPhysiotherapy
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Effects of Dual-Task Group Training on Gait, Cognitive Executive Function, and Quality of Life in People With Parkinson Disease: Results of Randomize…

2020

The aims of this study were to analyze the effects of a dual-task group program, to compare it with the effects of a single-task group program, and to analyze the effects of functional secondary tasks.Single-blind randomized controlled trial.University laboratory and a rehabilitation gym at a health center.Patients (N=40) with a diagnosis of Parkinson disease (mean age, 66.72y; age range, 44-79y) with Hoehn and Yahr stage I to III who were on medication were randomized to either a group with dual-task training or a group with single-task training (only gait).Both interventions involved 20 sessions lasting 1 hour each and conducted twice a week. Dual-task training included walking exercises …

AdultMale030506 rehabilitationmedicine.medical_specialtymedicine.medical_treatmentPsychological interventionPhysical Therapy Sports Therapy and Rehabilitationbehavioral disciplines and activitieslaw.invention03 medical and health sciencesExecutive Function0302 clinical medicinePhysical medicine and rehabilitationRandomized controlled trialMultivariate analysis of varianceQuality of lifelawTask Performance and AnalysismedicineHumansSingle-Blind MethodEffects of sleep deprivation on cognitive performanceGaitAgedRehabilitationbusiness.industryRehabilitationCognitionParkinson DiseaseMiddle AgedGaitExercise TherapyTreatment OutcomePsychotherapy GroupQuality of LifeFemale0305 other medical sciencebusinesspsychological phenomena and processes030217 neurology & neurosurgeryArchives of physical medicine and rehabilitation
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An adaptive virtual reality system for the treatment of adjustment disorder and complicated grief: 1-year follow-up efficacy data.

2019

This is the pre-peer reviewed version of the following article: An adaptive virtual reality system for the treatment of adjustment disorder and complicated grief: 1‐year follow‐up efficacy data, which has been published in final form at https://doi.org/10.1002/cpp.2342. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. Adjustment disorder (AD) and complicated grief (CG) are serious mental conditions that have a high prevalence and are associated with significant impairments in social and work functioning. Recently, these categories have been better specified in the new ICD‐11 proposal. Empirical research on …

AdultMale050103 clinical psychologymedicine.medical_specialtyadjustment disorderAdolescentAdjustment disordersCBT1 year follow upVirtual realityProlonged grief disorder03 medical and health sciencesAdjustment DisordersYoung Adult0302 clinical medicineEmpirical researchPrimary outcomemedicineHumans0501 psychology and cognitive sciencesSingle-Blind Methodprolonged grief disordercomplicated griefProtocol (science)positive psychology strategies05 social sciencesVirtual RealityMiddle Agedmedicine.diseaseComplicated grief030227 psychiatryPsychotherapyClinical PsychologyTreatment OutcomePhysical therapyvirtual realityFemaleGriefPsychologyFollow-Up StudiesClinical psychologypsychotherapy
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Are

2017

Objectives To investigate the association between IL18RAP and body mass index (BMI) and obesity and to verify the effect of a polymorphism in the microRNA136 (MIR136) IL18RAP binding region. Design We analysed samples from two Spanish cross-sectional studies, VALCAR (Spanish Mediterranean coast) and Hortega (Spanish centre). These studies aimed at analysing cardiovascular risk and development of cardiovascular disease in the general population. Both populations correspond to regions with different characteristics. Setting Five IL18RAP single nucleotide polymorphisms were selected using the SYSNPs web tool and analysed by oligonucleotide ligation assay (SNPlex). For the MIR136 functional stu…

AdultMale1683obesitymicrorna159Cardiovascular MedicinePolymorphism Single NucleotideWhite PeopleBody Mass IndexcytokineHumansgenetic polymorphismGenetic Predisposition to Diseasegenetics1506Interleukin-18 Receptor beta SubunitvariationsAllelesAgedResearchMiddle AgedMicroRNAsCross-Sectional StudiesLogistic ModelsSpainFemaleBMJ open
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The latent structure of the functional dyspepsia symptom complex: A taxometric analysis

2016

OBJECTIVES: Rome III introduced a subdivision of functional dyspepsia (FD) into postprandial distress syndrome and epigastric pain syndrome, characterized by early satiation/postprandial fullness, and epigastric pain/burning, respectively. However, evidence on their degree of overlap is mixed. We aimed to investigate the latent structure of FD to test whether distinguishable symptom-based subgroups exist. METHODS: Consecutive tertiary care Rome II FD patients completed the dyspepsia symptom severity scale. Confirmatory factor analysis (CFA) was used to compare the fit of a single factor model, a correlated three-factor model based on Rome III subgroups and a bifactor model consisting of a g…

AdultMaleAbdominal painAdolescentPhysiologyEpigastric painYoung Adult03 medical and health sciences0302 clinical medicineSurveys and QuestionnairesmedicineHumansDyspepsiaLatent structureAgedAged 80 and overTertiary HealthcareEndocrine and Autonomic Systemsbusiness.industrySingle factorGastroenterologyNauseaMiddle AgedClassificationPostprandial Periodmedicine.diseaseRome iiiConfirmatory factor analysisAbdominal PainDistress030220 oncology & carcinogenesisFemale030211 gastroenterology & hepatologymedicine.symptombusinessSomatizationClinical psychology
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Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia

2014

Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (…

AdultMaleAcute promyelocytic leukemiamedicine.medical_specialtyAdolescentOncogene Proteins FusionMicroarrayslcsh:MedicineLoss of HeterozygosityChromosomal translocationBiologyResearch and Analysis MethodsPolymorphism Single NucleotideTranslocation GeneticHematologic Cancers and Related DisordersLoss of heterozygosityYoung AdultLeukemia Promyelocytic AcuteLeukemiasGene duplicationMedicine and Health SciencesmedicineHumanslcsh:ScienceAgedChromosome AberrationsChromosomes Human Pair 15Multidisciplinarylcsh:RBreakpointCytogeneticsBiology and Life SciencesComputational BiologyHematologyMiddle AgedPrognosismedicine.diseaseMolecular biologyLeukemiaBioassays and Physiological AnalysisKaryotypingCancer researchlcsh:QFemaleResearch ArticleChromosomes Human Pair 17SNP arrayPLoS ONE
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Association of nicotinic acetylcholine receptor subunit alpha 4 polymorphisms with nicotine dependence in 5500 Germans.

2009

Polymorphisms in the CHRNA4 gene coding the nicotinic acetylcholine receptor subunit alpha 4 have recently been suggested to play a role in the determination of smoking-related phenotypes. To examine this hypothesis, we conducted a genetic association study in three large samples from the German general population (N(1)=1412; N(2)=1855; N(3)=2294). Five single-nucleotide polymorphisms in CHRNA4 were genotyped in 5561 participants, including 2707 heavily smoking cases (regularly smoking at least 20 cigarettes per day) and 2399 never-smoking controls (or=100 cigarettes over lifetime). We examined associations of the polymorphisms with smoking case-control status and with the extent of nicotin…

AdultMaleAdolescentGenotypeProtein subunitBiologyPharmacologyReceptors NicotinicPolymorphism Single NucleotideWhite PeopleGermanyGeneticsmedicineHumansGenetic Predisposition to DiseaseNicotine dependenceAgedPharmacologyAged 80 and overTobacco Use DisorderMiddle Agedmedicine.diseaseNicotinic acetylcholine receptorPhenotypeMolecular MedicineFemaleSmoking CessationThe pharmacogenomics journal
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