Search results for "Phenotype"

showing 10 items of 1875 documents

Clinical and Functional Characteristics of COPD Patients Across GOLD Classifications: Results of a Multicenter Observational Study.

2019

Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease. The severity grading systems proposed by the Global initiative for Chronic Obstructive Lung Disease (GOLD) have changed over time. The aim of the study was to evaluate if the different GOLD classifications can capture the complexity of the disease by investigating the distribution of lung function and clinical parameters across the GOLD classification systems. This was an observational, retrospective, multicentre study. COPD patients were stratified according to the GOLD severity grading proposed in the 2007, and to the ABCD assessment tool present in the 2011, and 2017 versions of the initiative. Data from body plethy…

Pulmonary and Respiratory MedicineMaleChronic Obstructivemedicine.medical_specialtyphenotypeCopd patientsSettore MED/10 - Malattie dell'Apparato RespiratorioVital CapacitySocio-culturalePulmonary diseaseSeverity gradingDiseaseGOLD documentairflow obstructionurologic and male genital diseasesSeverity of Illness IndexPulmonary Disease03 medical and health sciencesLeukocyte CountPulmonary Disease Chronic Obstructive0302 clinical medicineRisk FactorsInternal medicineForced Expiratory VolumemedicineCOPDHumanseosinophil030212 general & internal medicineAgedRetrospective StudiesCOPDbusiness.industryairflow obstruction COPD eosinophil GOLD document phenotypeMiddle Agedmedicine.diseaseObstructive lung diseaserespiratory tract diseasesEosinophils030228 respiratory systemItalyairflow obstruction; COPD; eosinophil; GOLD document; phenotype; Aged; Eosinophils; Female; Forced Expiratory Volume; Humans; Inspiratory Capacity; Italy; Leukocyte Count; Male; Middle Aged; Pulmonary Disease Chronic Obstructive; Retrospective Studies; Risk Factors; Severity of Illness Index; Vital CapacityObservational studyFemalesense organsbusinessCOPD; GOLD document; airflow obstruction; eosinophil; phenotypeInspiratory CapacityCOPD
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A particular phenotype of ascending aorta aneurysms as precursor of type A aortic dissection.

2012

Objectives: We aimed to identify a phenotype of ascending thoracic aortic aneurysm (TAA), which, more than others, evolves into type A dissection (TAD). Methods: Aortic specimens were obtained from patients undergoing surgical repair of TAA and TAD (108 and 26, respectively). Histopathological and immunohistochemical analyses were performed by using adequate tissue specimens, appropriate techniques and criteria. Results: We identified the three following TAA phenotypes: phenotype I (cystic medial degeneration balanced by a substitutive fibrosis, in absence of medial apoptosis and with a faint collagenase concentration), phenotype II (cystic medial degeneration of higher grade, respectively,…

Pulmonary and Respiratory MedicineMalePathologymedicine.medical_specialtyAorta ThoracicApoptosisThoracic aortic aneurysmAortic aneurysmAneurysmFibrosismedicine.arteryAscending aortamedicineSettore MED/05 - Patologia ClinicaThoracic aortaHumansAgedAortic dissectionAortaAortic Aneurysm Thoracicbusiness.industryDissectionSettore MED/23 - Chirurgia CardiacaOriginal ArticlesMiddle Agedmedicine.diseasePrognosisAneurysmFibrosisImmunohistochemistryAortic DissectionPhenotypeMatrix Metalloproteinase 9Disease ProgressionSurgeryFemaleThoracic aortic aneurysm phenotype IIICardiology and Cardiovascular MedicinebusinessAneurysm ; Dissection ; Thoracic aortic aneurysm phenotype IIIBiomarkersInteractive cardiovascular and thoracic surgery
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Phenotypes of COPD patients with a smoking history in Central and Eastern Europe: the POPE Study.

2017

Chronic obstructive pulmonary disease (COPD) represents a major health problem in Central and Eastern European (CEE) countries; however, there are no data regarding clinical phenotypes of these patients in this region.Participation in the Phenotypes of COPD in Central and Eastern Europe (POPE) study was offered to stable patients with COPD in a real-life setting. The primary aim of this study was to assess the prevalence of phenotypes according to predefined criteria. Secondary aims included analysis of differences in symptom load, comorbidities and pharmacological treatment.3362 patients with COPD were recruited in 10 CEE countries. 63% of the population were nonexacerbators, 20.4% frequen…

Pulmonary and Respiratory MedicineMalePediatricsmedicine.medical_specialtyChronic bronchitisCross-sectional studyInternational CooperationPopulationVital CapacityComorbidity03 medical and health sciencesPulmonary Disease Chronic Obstructive0302 clinical medicineForced Expiratory VolumemedicinePrevalenceHumans030212 general & internal medicineeducationBronchitisAgededucation.field_of_studyCOPDbusiness.industryData CollectionSmokingTobacco Use DisorderMiddle Agedmedicine.diseaseComorbidityrespiratory tract diseases3. Good healthEastern europeanBronchitis ChronicEuropeCross-Sectional StudiesPhenotypeTreatment Outcome030228 respiratory systemCohortBronchitisFemalebusinessThe European respiratory journal
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An Official American Thoracic Society Workshop Report: Evaluation and Management of Asthma in the Elderly.

2016

Asthma in the elderly (>65 yr old) is common and associated with higher morbidity and mortality than asthma in younger patients. The poor outcomes in this group are due, in part, to underdiagnosis and undertreatment. There are a variety of factors related to aging itself that affect the presentation of asthma in the elderly and influence diagnosis and management. Structural changes in the aging lung superimposed on structural changes due to asthma itself can worsen the disease and physiologic function. Changes in the aging immune system influence the cellular composition and function in asthmatic airways. These processes and differences from younger individuals with asthma are not well u…

Pulmonary and Respiratory MedicinePediatricsmedicine.medical_specialtyAgingImmunosenescenceaging; immunosenescence; lung function; phenotype; reactive airways diseaseDiseaseComorbiditySettore MED/10 - Malattie Dell'Apparato RespiratorioAffect (psychology)Diagnosis Differential03 medical and health sciencesPulmonary Disease Chronic Obstructive0302 clinical medicineimmune system diseasesreactive airways diseasemedicineHumans030212 general & internal medicineDisease management (health)LungSocieties MedicalAsthmaAgedAmerican Thoracic Society DocumentsLungbusiness.industryDisease Managementlung functionImmunosenescencemedicine.diseaseComorbidityAsthmaUnited Statesrespiratory tract diseasesmedicine.anatomical_structurePhenotype030228 respiratory systemPhysical therapyAge of onsetbusinessBiomarkersAnnals of the American Thoracic Society
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Therapeutic effects of benralizumab assessed in patients with severe eosinophilic asthma: Real-life evaluation correlated with allergic and non-aller…

2021

Corrado Pelaia,1 Claudia Crimi,2 Alida Benfante,3 Maria Filomena Caiaffa,4 Cecilia Calabrese,5 Giovanna Elisiana Carpagnano,6 Domenico Ciotta Jnr,7 Maria D’Amato,8 Luigi Macchia,9 Santi Nolasco,2 Girolamo Pelaia,1 Simona Pellegrino,7 Nicola Scichilone,3 Giulia Scioscia,10 Giuseppe Spadaro,11 Giuseppe Valenti,12 Alessandro Vatrella,7 Nunzio Crimi2 1Department of Health Sciences, University “Magna Graecia” of Catanzaro, Catanzaro, Italy; 2Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy; 3Department of Biomedicine and Internal and Specialistic Medicine, University of Palermo, Palermo, Italy; 4Allergology and Clinical Immunol…

Pulmonary and Respiratory Medicinelcsh:Immunologic diseases. Allergymedicine.medical_specialtyVital capacityallergic and non allergic phenotypesAsthma exacerbationSettore MED/10 - Malattie Dell'Apparato Respiratoriobenralizumab.FEV1/FVC ratiochemistry.chemical_compoundPrednisoneInternal medicineIL-5 receptorJournal of Asthma and AllergyImmunology and AllergyMedicineClinical significanceAsthmaOriginal ResearchAllergic and non-allergic phenotypebusiness.industrySevere eosinophilic asthmaTherapeutic effectBenralizumabmedicine.diseaseBenralizumabchemistryasthma exacerbationsExhaled nitric oxideallergic and non-allergic phenotypesbusinesslcsh:RC581-607Allergic and non-allergic phenotypesAsthma exacerbations Benralizumab IL-5 receptor Severe eosinophilic asthmaAllergic and non-allergic phenotypes; Asthma exacerbations; Benralizumab; IL-5 receptor; Severe eosinophilic asthmamedicine.drug
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Moving from the Oslerian paradigm to the postgenomic era: Are asthma and COPD outdated terms?

2016

In the majority of cases, asthma and chronic obstructive pulmonary disease (COPD) are two clearly distinct disease entities. However, in some patients there may be significant overlap between the two conditions. This constitutes an important area of concern because these patients are generally excluded from randomised controlled trials (mostly because of smoking history in the case of asthma or because of significant bronchodilator reversibility in the case of COPD). As a result, their pathobiology, prognosis and response to therapy are largely unknown. This may lead to suboptimal management and can limit the development of more personalised therapeutic options. Emerging genetic and molecul…

Pulmonary and Respiratory Medicinemedicine.medical_specialtyPlacebo-controlled studyAlternative medicinePHENOTYPESAIRWAY DISEASEDiseasePLACEBO-CONTROLLED TRIALOBSTRUCTIVE PULMONARY-DISEASETHERAPYCOPD MechanismsDOUBLE-BLINDPulmonary Disease Chronic ObstructiveAsthma; COPD MechanismsTerminology as TopicmedicineHumansDiseasePrecision MedicineIntensive care medicineINDEXAsthmaCLUSTER-ANALYSISCOPDbusiness.industrySystems Biologymedicine.diseaseAsthmaLUNG-FUNCTIONSystems medicineEXACERBATIONSPhenotypePhysical therapyHealth educationPersonalized medicinebusinessThorax
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Advances in asthma pathophysiology: stepping forward from the Maurizio Vignola experience

2015

Maurizio Vignola was a superb and innovative researcher, who wrote seminal papers on the biology of airway epithelium in asthma. Inflammation and remodelling were the main topics of his research, mostly conducted in biopsy specimens from patients with asthma of variable severity, encompassing the entire spectrum of the disease from mild to severe asthma. His observations contributed to define the biology of asthma as we know it today, and opened the way to the personalised treatment of asthma. His group has successfully continued to investigate the biology and clinical aspects of bronchial asthma, with major interest in the clinical use of biomarkers to monitor disease activity, and in the …

Pulmonary and Respiratory Medicinemedicine.medical_specialtyVariable severityAsthma phenotypesSevere asthmaDrug ResistanceMEDLINEDiseaseSettore MED/10 - Malattie Dell'Apparato RespiratorioAdrenal Cortex HormoneDisease activityGlucocorticoidAdrenal Cortex Hormonesimmune system diseasesmedicineHumansIntensive care medicineGlucocorticoidsAsthmalcsh:RC705-779Inflammationbusiness.industrylcsh:Diseases of the respiratory systemBiomarkermedicine.diseaseAsthmarespiratory tract diseasesPhysical therapyAirway RemodelingTreatment strategybusinessBiomarkersHumanEuropean Respiratory Review
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Frailty Assessment in a Stable COPD Cohort: Is There a COPD-Frail Phenotype?

2021

The frailty syndrome increases the morbidity/mortality in older adults, and several studies have shown a higher prevalence of this syndrome in patients with Chronic Obstructive Pulmonary Disease (COPD). The aim of this study was to identify the characteristics of frail patients with COPD to define a new phenotype called "COPD-frail." We conducted a cross-sectional study in a cohort of patients with stable COPD, classified as either frail, pre-frail, or non-frail. Sociodemographic, clinical, and biochemical variables were compared between the three groups of patients. The study included 127 patients, of which 31 were frail, 64 were pre-frail, and 32 non-frail. All subjects had FEV1/FVC below…

Pulmonary and Respiratory Medicinemedicine.medical_specialtyphenotypeFrail ElderlyFrailty syndromefrailtyHospital Anxiety and Depression ScaleSeverity of Illness IndexFEV1/FVC ratioPulmonary Disease Chronic ObstructiveInternal medicineMedicineCOPDHumansAgedCOPD-frailCOPDFrailtybusiness.industrymedicine.diseaseObstructive lung diseaserespiratory tract diseasesCross-Sectional StudiesDyspneaPhenotypeCohortAnxietymedicine.symptombusinessBody mass indexhuman activitiesCOPD
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Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa

2021

Retinitis pigmentosa (RP) is an inherited retinal disease (IRD) with an overall prevalence of 1 in 4000 individuals. Mutations in EYS (Eyes shut homolog) are among the most frequent causes of non-syndromic autosomal recessively inherited RP and act via a loss-of-function mechanism. In light of the recent successes for other IRDs, we investigated the therapeutic potential of exon skipping for EYS-associated RP. CRISPR/Cas9 was employed to generate zebrafish from which the region encompassing the orthologous exons 37-41 of human EYS (eys exons 40-44) was excised from the genome. The excision of these exons was predicted to maintain the open reading frame and to result in the removal of exactl…

QH301-705.5CatalysisSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]ArticleInorganic ChemistryExonAll institutes and research themes of the Radboud University Medical CenterEYSProtein Domainsretinitis pigmentosaRetinitis pigmentosamedicineCRISPRCoding regionAnimals<i>EYS</i>Biology (General)Physical and Theoretical ChemistryOuter nuclear layerEye ProteinsQD1-999Molecular BiologyZebrafishCRISPR/Cas9SpectroscopyGeneticsexon skipping therapybiologyOrganic ChemistryphotoreceptorsGeneral MedicineExonsGenetic TherapyZebrafish Proteinsmedicine.diseasebiology.organism_classificationzebrafishExon skippingComputer Science ApplicationsChemistryOpen reading frameDisease Models Animalmedicine.anatomical_structurePhenotypeCRISPR-Cas Systemsantisense oligonucleotidesInternational Journal of Molecular Sciences
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Are affective temperaments determinants of quality of life in euthymic patients with bipolar disorder?

2018

Background: Bipolar disorder (BD) is a disabling illness that is associated with low quality of life (QoL). This low QoL goes further than mood episodes, which suggests that stable traits, such as affective temperaments, can cause functional impairment. Objective: Our study analyses the impact of affective temperaments on the Physical Component Summary (PCS) and Mental Component Summary (MCS) of QoL in euthymic BD patients. Methods: A multicentre study was conducted in 180 euthymic BD patients and 95 healthy controls. Firstly, statistical analyses were performed to compare QoL and affective temperaments between the two groups. Secondly, Adaptive Lasso Analysis was carried out to identify th…

Quality of lifeAdultMaleBipolar DisorderBipolar disordermedia_common.quotation_subject*Bipolar disorderComorbidity*Quality of lifeAffect (psychology)behavioral disciplines and activities03 medical and health sciences0302 clinical medicineQuality of lifeSurveys and QuestionnairesmedicineHumansAffective SymptomsBipolar disorder*Functional impairmentTemperamentmedia_commonAffective temperamentbusiness.industryMiddle Agedmedicine.diseaseComorbidityCyclothymic Disorderhumanities030227 psychiatryAffectPsychiatry and Mental healthClinical PsychologyPhenotypeMoodFunctional impairmentCase-Control StudiesQuality of LifeFemaleTemperament*Affective temperamentbusiness030217 neurology & neurosurgeryAnxiety disorderPsychopathologyClinical psychologyJournal of Affective Disorders
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