Search results for "Cystic Fibrosi"

showing 10 items of 115 documents

Calcifediol-loaded liposomes for local treatment of pulmonary bacterial infections.

2017

The influence of vitamin D3 and its metabolites calcifediol (25(OH)D) and calcitriol on immune regulation and inflammation is well described, and raises the question of potential benefit against bacterial infections. In the current study, 25(OH)D was encapsulated in liposomes to enable aerosolisation, and tested for the ability to prevent pulmonary infection by Pseudomonas aeruginosa. Prepared 25(OH)D-loaded liposomes were nanosized and monodisperse, with a negative surface charge and a 25(OH)D entrapment efficiency of approximately 23%. Jet nebulisation of liposomes was seen to yield an aerosol suitable for tracheo-bronchial deposition. Interestingly, 25(OH)D in either liposomes or ethanol…

0301 basic medicineVitaminRMCalcitriolCystic FibrosisPharmaceutical ScienceInflammationBronchiBiologyPharmacologymedicine.disease_causeMicrobiologyProinflammatory cytokineCell Line03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicinePseudomonas infectionAdministration InhalationmedicineAnimalsHumansImmunologic FactorsPseudomonas InfectionsRespiratory Tract InfectionsCalcifediolLiposomePseudomonas aeruginosaEpithelial CellsGeneral Medicinemedicine.disease030104 developmental biology030228 respiratory systemchemistryLiposomesPseudomonas aeruginosaCytokinesNanoparticlesCalcifediolmedicine.symptomBiotechnologymedicine.drug
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Targeting Nonsense: Optimization of 1,2,4-Oxadiazole TRIDs to Rescue CFTR Expression and Functionality in Cystic Fibrosis Cell Model Systems

2020

Cystic fibrosis (CF) patients develop a severe form of the disease when the cystic fibrosis transmembrane conductance regulator (CFTR) gene is affected by nonsense mutations. Nonsense mutations are responsible for the presence of a premature termination codon (PTC) in the mRNA, creating a lack of functional protein. In this context, translational readthrough-inducing drugs (TRIDs) represent a promising approach to correct the basic defect caused by PTCs. By using computational optimization and biological screening, we identified three new small molecules showing high readthrough activity. The activity of these compounds has been verified by evaluating CFTR expression and functionality after…

0301 basic medicineYellow fluorescent proteinCystic Fibrosisnonsense mutationCystic Fibrosis Transmembrane Conductance RegulatorCystic fibrosislcsh:Chemistry0302 clinical medicinelcsh:QH301-705.5SpectroscopyCells CulturedbiologyChemistryGeneral MedicineSmall moleculeCystic fibrosis transmembrane conductance regulatorComputer Science ApplicationsCell biologyCodon Nonsense030220 oncology & carcinogenesisNonsense mutationContext (language use)Settore BIO/11 - Biologia MolecolareCatalysisArticleInorganic Chemistry03 medical and health sciencesmedicineHumansRNA MessengerPhysical and Theoretical ChemistryMolecular BiologyGeneMessenger RNAOrganic ChemistryoxadiazolesSettore CHIM/06 - Chimica Organicapremature termination codonmedicine.diseaseSettore CHIM/08 - Chimica FarmaceuticaSettore BIO/18 - Genetica030104 developmental biologyGene Expression Regulationlcsh:Biology (General)lcsh:QD1-999translational readthrough inducing drugsProtein BiosynthesisMutationbiology.proteingenetic disorderInternational Journal of Molecular Sciences
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Strategies against nonsense: oxadiazoles as translational readthrough-inducing drugs (TRIDs)

2019

This review focuses on the use of oxadiazoles as translational readthrough-inducing drugs (TRIDs) to rescue the functional full-length protein expression in mendelian genetic diseases caused by nonsense mutations. These mutations in specific genes generate premature termination codons (PTCs) responsible for the translation of truncated proteins. After a brief introduction on nonsense mutations and their pathological effects, the features of various classes of TRIDs will be described discussing differences or similarities in their mechanisms of action. Strategies to correct the PTCs will be presented, particularly focusing on a new class of Ataluren-like oxadiazole derivatives in comparison …

0301 basic medicinemedia_common.quotation_subjectNonsenseNonsense mutationRegulatorSettore BIO/11 - Biologia MolecolareReviewComputational biologyBiologyOxadiazoleCatalysiscystic fibrosislcsh:ChemistryInorganic Chemistry03 medical and health sciences0302 clinical medicineAtalurenTranslational readthrough inducing drugsPhysical and Theoretical Chemistrylcsh:QH301-705.5Molecular BiologyGeneSpectroscopymedia_commonNonsense mutationOrganic ChemistryTranslational readthroughoxadiazolesPremature termination codonTranslation (biology)General MedicineSettore CHIM/06 - Chimica OrganicaSmall moleculeSettore CHIM/08 - Chimica FarmaceuticaTransmembrane proteinComputer Science ApplicationsSettore BIO/18 - Genetica030104 developmental biologyPharmaceutical Preparationslcsh:Biology (General)lcsh:QD1-999Codon NonsenseProtein Biosynthesis030220 oncology & carcinogenesisCystic fibrosi
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SOLID LIPID NANOPARTICLES FOR APPLICATIONS IN GENE THERAPY: A REVIEW OF THE STATE OF THE ART

2010

Importance of the field. Gene therapy represents a new paradigm in the prevention and treatment of many inherited and acquired diseases, including genetic disorders, such as cystic fibrosis, haemophilia and many somatic diseases, such as tumours, neurodegenerative diseases and viral infections, such as AIDS. Areas covered in this review. Among a large array of non-viral transfection agents used for in-vitro applications, cationic SLNs are the topic of this review, being recently proposed as an alternative carrier for DNA delivery, due to many technological advantages such as large-scale production from substances generally recognized as safe, good storage stability and possibility of steam …

Acquired diseasesGenetic enhancementGenetic VectorsPharmaceutical ScienceGene deliveryBiologyBioinformaticsCystic fibrosisGenetic therapyGENE THERAPY SOLID LIPID NANOPARTICLESSolid lipid nanoparticlemedicinegene deliverybusiness.industrynon-viral vectors Read More: http://informahealthcare.com/doi/abs/10.1517/17425240903362410DNAGenetic Therapymedicine.diseasegene therapyLipidsBiotechnologySettore CHIM/09 - Farmaceutico Tecnologico ApplicativoMicroscopy Electron ScanningNanoparticlesbusinesscationic solid lipid nanoparticles
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Oral health of cystic fibrosis patients at a north american center: A pilot study

2019

Background The objective of this study was to describe the oral health status of Cystic Fibrosis (CF) children in a US facility. Material and Methods Twenty CF children ages 6-18 were recruited from Children’s Hospital of Wisconsin Pulmonary Clinic. Parents completed a health questionnaire. Clinical examinations checked dental caries using the dmft/DMFT index, dental hygiene using the Simplified Greene-Vermillion Index (DI-S), gingival inflammation using the Community Periodontal Index of Treatment Needs, and enamel defects using the modified Developmental Defects of Enamel Index. Results The majority (90%) brush twice a day, 65% consume sugary snacks, and 70% visit the dentist every 6 mont…

AdolescentCystic FibrosisEnamel defectsDentistryOral HealthPilot ProjectsDental CariesOral healthOral hygieneCystic fibrosis03 medical and health sciences0302 clinical medicinestomatognathic systemPrevalencemedicineHumansChildGeneral DentistryEnamel paintDMF Indexbusiness.industryResearchDMFT Index030206 dentistryDental hygiene:CIENCIAS MÉDICAS [UNESCO]Medically compromised patients in DentistryOral Hygienemedicine.diseaseUnited Statesstomatognathic diseasesOtorhinolaryngologyvisual_artUNESCO::CIENCIAS MÉDICASvisual_art.visual_art_mediumSurgeryMild gingivitisbusinessMedicina Oral Patología Oral y Cirugia Bucal
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Prevalence of diabetes mellitus and impaired glucose tolerance in cystic fibrosis.

1990

The aim of this study was to evaluate the prevalence of impaired glucose tolerance or diabetes mellitus in 99 patients (53 M, 46 F; mean age 10.5 +/- 6.9 years), with cystic fibrosis. Glucose tolerance was evaluated in all patients without overt diabetes using the oral glucose tolerance test (OGTT). Six patients showed a pathological OGTT and 2 patients had insulin-requiring diabetes mellitus. The mean age of the patients with impaired glucose tolerance was significantly higher than that of the subjects with normal glucose metabolism (p less than 0.0001). Patients with overt diabetes mellitus were the oldest subjects in the study group.

AdultBlood GlucoseMalemedicine.medical_specialtyendocrine system diseasesAdolescentCystic FibrosisEndocrinology Diabetes and MetabolismStatistics as TopicCarbohydrate metabolismGastroenterologyCystic fibrosisImpaired glucose toleranceEndocrinologyInternal medicineDiabetes mellitusEpidemiologyInternal MedicinemedicineDiabetes MellitusPrevalenceHumansChildPathologicalGlucose tolerance testmedicine.diagnostic_testbusiness.industrynutritional and metabolic diseasesInfantGeneral MedicineGlucose Tolerance Testmedicine.diseaseEndocrinologyChild PreschoolFemalebusinessComplicationActa diabetologica latina
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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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Development and Validation of the AdT-Physio Scale: A Tool to Assess Adherence and Perception of Physical Therapist Intervention in Patients With Cys…

2019

Abstract Objective The purpose of this study was to develop a scale to measure patient adherence to physical therapist intervention and to report psychometric properties in patients with cystic fibrosis (CF). Methods This observational, multicenter, qualitative, and cross-sectional study was divided into 2 phases: development of scale items (content validity) and assessment of psychometric properties (construct validity, reliability, and convergent/discriminant validity). Recruited were 121 patients with CF (aged ≥16 years). Sociodemographic characteristics, lung function testing, Coping with Stress Self-Efficacy, brief Coping Orientation to Problems Experienced inventory, and the scale of …

AdultMaleCoping (psychology)Cystic FibrosisPatientsPsychometricsPhysical Therapy Sports Therapy and RehabilitationCorrelation03 medical and health sciences0302 clinical medicineCronbach's alphaSurveys and QuestionnairesAdaptation PsychologicalContent validityMedicineHumans030212 general & internal medicinePhysical Therapy Modalitiesbusiness.industryDiscriminant validityConstruct validityReproducibility of ResultsConfirmatory factor analysisPhysical TherapistsCross-Sectional Studies030228 respiratory systemPatient ComplianceObservational studyFemalePerceptionbusinessClinical psychologyPhysical therapy
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Impact of SARS-CoV-2 infection in patients with cystic fibrosis in Spain: Incidence and results of the national CF-COVID19-Spain survey

2020

CF-COVID19-Spain Registry Group.

AdultMalePulmonary and Respiratory MedicinePediatricsmedicine.medical_specialtyPneumonia ViralPopulationDiseaseRisk AssessmentCystic fibrosisArticleCystic fibrosisBetacoronavirus03 medical and health sciencesCOVID-19 Testing0302 clinical medicinemedicineHumansRegistries030212 general & internal medicineMortalityeducationPandemicsRetrospective Studieseducation.field_of_studyClinical Laboratory Techniquesbusiness.industrySARS-CoV-2IncidenceIncidence (epidemiology)Mortality rateCOVID-19Retrospective cohort studymedicine.diseaseCoronavirus030228 respiratory systemSpainFemaleObservational studyCoronavirus InfectionsRisk assessmentbusiness
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Risk factors for cystic fibrosis arthropathy: Data from the German cystic fibrosis registry

2021

Epidemiology and potential risk factors for cystic fibrosis arthropathy (CFA) were studied in a relevant cystic fibrosis (CF) patient cohort.Cohort study of patients included in the German CF registry in 2016-2017. Descriptive analysis, exploratory tests and multivariable logistic regression were used to assess prevalence of CFA and associated potential risk factors for adult patients with/without chronic Pseudomonas aeruginosa infection.6069 CF patients aged from 0 to 78 years were analysed. CFA was observed in 4.9% of the patients. Prevalence was significantly higher in adult patients (8.4%) compared to patients18 years (0.7%; p0.0001). Logistic regression analyses in adult patients (n=33…

AdultMalePulmonary and Respiratory Medicinemedicine.medical_specialtyAdolescentCystic FibrosisCystic fibrosis-related diabetesmedicine.disease_causeLogistic regressionCystic fibrosisDiabetes ComplicationsSex FactorsRisk FactorsGermanyInternal medicineArthropathyEpidemiologyPrevalencemedicineHumansPseudomonas InfectionsRegistriesSinusitisChildAgedPseudomonas aeruginosabusiness.industryAge FactorsInfant NewbornInfantMiddle Agedmedicine.diseaseChild PreschoolPediatrics Perinatology and Child HealthCohortExocrine Pancreatic InsufficiencyFemaleJoint DiseasesbusinessCohort studyJournal of Cystic Fibrosis
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