Search results for "FN"

showing 10 items of 862 documents

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

2014

Purpose: Targeted next-generation sequencing provides a remarkable opportunity to identify variants in known disease genes, particularly in extremely heterogeneous disorders such as nonsyndromic hearing loss. The present study attempts to shed light on the complexity of hearing impairment. Methods: Using one of two next-generation sequencing panels containing either 80 or 129 deafness genes, we screened 30 individuals with nonsyndromic hearing loss (from 23 unrelated families) and analyzed 9 normal-hearing controls. Results: Overall, we found an average of 3.7 variants (in 80 genes) with deleterious prediction outcome, including a number of novel variants, in individuals with nonsyndromic h…

MaleProbandUsher syndromeGene DosageDeafnessBioinformaticsmedicine.disease_causesensorineural hearing lossConnexinsCohort Studiestargeted next-generation sequencingOriginal Research Articlemutational loadChildGenetics (clinical)Oligonucleotide Array Sequence AnalysisGeneticsMutationmedicine.diagnostic_testHomozygoteHigh-Throughput Nucleotide SequencingPedigreeConnexin 26Treatment OutcomeChild PreschoolFemalemedicine.symptomAdultAdolescentSequence analysisHearing lossdeafness gene panelMolecular Sequence DataBiologynonsyndromic hearing lossDNA sequencingYoung AdultAudiometryGenetic variationotorhinolaryngologic diseasesmedicineHumansGenetic Predisposition to DiseaseFamily HealthBase SequenceGenetic VariationInfantDNASequence Analysis DNAmedicine.diseaseMutationAudiometryGene DeletionGenetics in Medicine
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Arterial Stiffness is Related to Impaired Exercise Capacity in Patients With Coronary Artery Disease and History of Myocardial Infarction

2018

Background Augmented arterial stiffness and reduced cardiorespiratory fitness are associated with increased morbidity and mortality from coronary artery disease (CAD). The relationship between exercise capacity and arterial stiffness is independent of known influencing variables in CAD. This study aimed to analyse the interaction between exercise capacity, arterial stiffness and early vascular ageing in patients with CAD. Methods This cross-sectional study included 96 CAD patients with myocardial infarction (55.9 ± 10.9 years, 81 men) referred to cardiac rehabilitation. Arterial stiffness was assessed using carotid-femoral pulse wave velocity (cf-PWV). Cardiopulmonary exercise test was perf…

MalePulmonary and Respiratory Medicinemedicine.medical_specialtymedicine.medical_treatmentMyocardial InfarctionCoronary Artery DiseasePulse Wave Analysis030204 cardiovascular system & hematologyCoronary artery diseaseElectrocardiography03 medical and health sciencesVascular Stiffness0302 clinical medicineRisk FactorsInternal medicinemedicineHumansIn patientcardiovascular diseases030212 general & internal medicineMyocardial infarctionPulse wave velocityRetrospective StudiesExercise ToleranceRehabilitationPortugalbusiness.industryCardiorespiratory fitnessMiddle AgedExercise capacitymedicine.diseaseSurvival RateCarotid ArteriesCross-Sectional StudiesExercise Testcardiovascular systemArterial stiffnessCardiologyFemaleMorbidityCardiology and Cardiovascular MedicinebusinessFollow-Up StudiesHeart, Lung and Circulation
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Long-term variations of arterial stiffness in patients with obesity and obstructive sleep apnea treated with continuous positive airway pressure

2020

BackgroundObstructive sleep apnea (OSA) is associated with cardiovascular co-morbidities and mortality. Arterial stiffness is an independent predictor of cardiovascular risk and mortality, and is influenced by the presence of OSA and related comorbidities. There is a paucity of data regarding long-term evolution of arterial stiffness in CPAP-treated OSA patients. We aimed to prospectively study long term PWV variations and determinants of PWV deterioration.MethodsIn a prospective obese OSA cohort, at time of diagnosis and after several years of follow-up we collected arterial stiffness measured by carotid-femoral pulse wave velocity (PWV), clinical and metabolic parameters, and CPAP adheren…

MalePulmonologyApneaPhysiologymedicine.medical_treatmentBlood PressurePolysomnography030204 cardiovascular system & hematologyVascular Medicine[SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tractStiffnessCohort StudiesMedical ConditionsMathematical and Statistical TechniquesEndocrinology0302 clinical medicineRisk FactorsMedicine and Health SciencesContinuous positive airway pressurePulse wave velocitySleep Apnea Obstructiveeducation.field_of_studyMultidisciplinaryContinuous Positive Airway Pressuremedicine.diagnostic_testPharmaceuticsStatisticsQlongitudinal studyRSleep apneaBlood Pressure Monitoring AmbulatoryMiddle Aged[SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system3. Good healthCardiovascular TherapyNeurologyPhysiological ParametersCardiovascular DiseasesPhysical SciencesHypertensioncardiovascular systemCardiologysleep disordered breathing.MedicineFemaleResearch Articlecirculatory and respiratory physiologymedicine.medical_specialtySleep ApneaEndocrine Disorderspulse wave velocityPolysomnographyScienceMaterials ScienceMaterial PropertiesPopulationSettore MED/10 - Malattie Dell'Apparato RespiratorioResearch and Analysis MethodsRespiratory Disorders03 medical and health sciencesVascular StiffnessDrug Therapy[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemInternal medicineDiabetes MellitusmedicineMechanical PropertiesHumansObesityStatistical Methodseducationbusiness.industryBody WeightBiology and Life Sciencesmedicine.diseaserespiratory tract diseasesObstructive sleep apneaBlood pressure030228 respiratory systemMetabolic DisordersMultivariate AnalysisArterial stiffness[SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tractSleep DisordersbusinessMathematicsPLOS ONE
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Use of high flow nasal cannula in patients with acute respiratory failure in general wards under intensivists supervision: a single center observatio…

2022

Abstract Background Few data exist on high flow nasal cannula (HFNC) use in patients with acute respiratory failure (ARF) admitted to general wards. Rationale and objectives To retrospectively evaluate feasibility and safety of HFNC in general wards under the intensivist-supervision and after specific training. Methods Patients with ARF (dyspnea, respiratory rate-RR > 25/min, 150 < PaO2/FiO2 < 300 mmHg during oxygen therapy) admitted to nine wards of an academic hospital were included. Gas-exchange, RR, and comfort were assessed before HFNC and after 2 and 24 h of application. Results 150 patients (81 male, age 74 [60–80] years, SOFA 4 [2–4]), 123 with de-novo ARF underwent HFNC wi…

MaleRespiratory Distress SyndromeNoninvasive VentilationOxygen Inhalation TherapyARFHFNCOxygenGeneral-wardsDyspneaAHRFICU-supervisionPatients' RoomsCannulaHumansSafetyRespiratory InsufficiencyAgedRetrospective Studies
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A long-term (two years) clinical trial with S-adenosylmethionine for the treatment of osteoarthritis

1987

In a long-term multicenter open trial involving 10 general practitioners, the efficacy and tolerance of S-adenosylmethionine (SAMe) were studied for 24 months in 108 patients with osteoarthritis of the knee, hip, and spine. At the end of the 24-month observation period, 97 of the patients were still in the study. The patients received 600 mg of SAMe daily (equivalent to three tablets of 200 mg each) for the first two weeks and thereafter 400 mg daily (equivalent to two tablets of 200 mg each) until the end of the 24th month of treatment. Separate evaluations were made for osteoarthritis of the knee, hip, cervical spine, and dorsal/lumbar spine. The severity of the clinical symptoms (morning…

MaleS-Adenosylmethioninemedicine.medical_specialtyClinical effectivenessOsteoarthritisOsteoarthritisHumansMedicineLongitudinal StudiesAdverse effectAgedClinical Trials as TopicPsychological TestsDepressionbusiness.industryAnti-Inflammatory Agents Non-SteroidalMorning stiffnessGeneral MedicineMiddle Agedmedicine.diseaseCervical spineSurgeryClinical trialFemaleLumbar spineOpen labelbusinessThe American Journal of Medicine
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Long-term clinical and radiographic outcomes and patient satisfaction after adult spinal deformity correction

2018

Background and Aims: Adult spinal deformity surgery has increased with the aging population and modern surgical approaches, although it has high complication and reoperation rates. The permanence of radiographic correction, mechanical complications, predictive factors for poor patient-reported outcomes, and patient satisfaction were analyzed. Material and Methods: A total of 79 adult patients were retrospectively analyzed at baseline and 1–9 years after adult spinal deformity correction between 2007 and 2016. Patient-reported outcomes (Oswestry Disability Index, visual analog scale, and Scoliosis Research Society–30 scores), changes in radiographic alignment, indications for reoperation, pr…

MaleScoliosis Research Society-30medicine.medical_specialtypatient satisfactionSURGERYRadiographyMULTICENTERSpinal deformity correctionAdult spinal deformitycomplicationreoperationlong-term follow-upScoliosisSpinal CurvaturesPARAMETERSDisability Evaluation03 medical and health sciences0302 clinical medicinePatient satisfactionFUSIONmedicineHumansSCOLIOSISVALIDITYOswestry Disability IndexRetrospective Studiessagittal alignmentSurgical approachbusiness.industrySTIFFNESSMiddle Agedmedicine.disease3126 Surgery anesthesiology intensive care radiology3. Good healthSurgeryOswestry Disability Index030220 oncology & carcinogenesisBALANCERELIABILITYSpinal deformityoutcomeFemale030211 gastroenterology & hepatologybusinessComplication
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Association between uric acid and renal function in hypertensive patients: which role for systemic vascular involvement?

2016

The role of systemic vascular involvement in mediating the association between serum uric acid (SUA) and renal function in hypertension has not been explored. Main purpose of our study was to investigate whether morphofunctional vascular changes, assessed as carotid intima-media thickness (cIMT) and aortic pulse wave velocity (aPWV), might mediate the association between SUA and renal damage. We enrolled 523 hypertensive subjects with or without chronic kidney disease and divided population into tertiles of SUA based on sex-specific cutoff values. cIMT and aPWV were higher in uppermost SUA-tertile patients when compared to those in the lowest ones (all P < .001). Uricemia strongly correlate…

MaleSettore MED/09 - Medicina Interna030204 cardiovascular system & hematologyKidneyCarotid Intima-Media ThicknessBody Mass Indexchemistry.chemical_compound0302 clinical medicineRisk Factors030212 general & internal medicinePulse wave velocityAortaKidneyUnivariate analysiseducation.field_of_studyUricemiaMiddle Agedmedicine.anatomical_structureAtherosclerosiHypertensioncardiovascular systemCardiologyFemaleCardiology and Cardiovascular MedicineGlomerular Filtration RateAdultmedicine.medical_specialtyPopulationRenal functionPulse Wave Analysis03 medical and health sciencesVascular StiffnessInternal medicinemedicineRenal damageInternal MedicineHumanscardiovascular diseasesRenal Insufficiency ChroniceducationAgedSettore MED/14 - Nefrologiabusiness.industrymedicine.diseaseUric AcidEndocrinologyCross-Sectional StudieschemistryUric acidbusinessBody mass indexKidney diseaseJournal of the American Society of Hypertension : JASH
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Relationship between kidney findings and systemic vascular damage in elderly hypertensive patients without overt cardiovascular disease

2017

Few studies have investigated the influence of age on the relationships between systemic vascular damage, kidney dysfunction, and intrarenal hemodynamic changes in patients with hypertension without overt cardiovascular disease. The authors enrolled 126 elderly patients with hypertension (aged ≥65 years) and 350 nonelderly patients with hypertension (aged <65 years). Carotid intima‐media thickness, renal resistive index, and aortic pulse wave velocity were performed in all patients. Elderly patients with hypertension had lower estimated glomerular filtration rates and higher albuminuria, renal resistive index, carotid intima‐media thickness, and aortic pulse wave velocity compared with none…

MaleSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismStatistics as TopicHemodynamicsBlood PressureDisease030204 cardiovascular system & hematologyKidneyurologic and male genital diseasesCarotid Intima-Media ThicknessElderly0302 clinical medicineMedicine030212 general & internal medicineUltrasonography Doppler ColorPulse wave velocitySubclinical infectionBlood Pressure and the KidneyKidneyCarotid Arteriesmedicine.anatomical_structureItalyHypertensioncardiovascular systemCardiologyFemalemedicine.symptomCardiology and Cardiovascular MedicineBlood Flow VelocityGlomerular Filtration Ratemedicine.medical_specialtyRenal functionVascular diseaseRenal disease03 medical and health sciencesVascular StiffnessEnglishInternal medicineInternal MedicineHumansRenal haemodyanmicSystemic vascular damageAgedSettore MED/14 - Nefrologiabusiness.industryVascular diseaseHemodynamicsmedicine.diseaseCross-Sectional StudiesAlbuminuriaVascular ResistancebusinessThe Journal of Clinical Hypertension
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Endothelial function and arterial stiffness indexes in subjects with acute ischemic stroke: Relationship with TOAST subtype.

2017

Abstract Background and aims Only one study has examined endothelial function in subjects with acute ischemic stroke and no study has yet assessed arterial stiffness and reactive hyperemia peripheral arterial tonometry (RH-PAT) in ischemic stroke and its clinical subtypes. Our study aimed to evaluate arterial stiffness and endothelial dysfunction indexes in patients with acute ischemic stroke and the relationship between endothelial dysfunction indexes and arterial stiffness markers and stroke subtypes according to Trial of Org 10172 in Acute Stroke Treatment (TOAST) Classification. Methods We enrolled 98 patients with a diagnosis of acute ischemic stroke and 105 hospitalized patients witho…

MaleSettore MED/09 - Medicina InternaSubtype030204 cardiovascular system & hematologyBrain Ischemia0302 clinical medicineRisk FactorsIschemicOdds RatioMedicineEndothelial dysfunctionEndothelial dysfunctionAcute ischemic strokePulse wave velocityStrokeEndothelial dysfunction; Ischemic; Stiffness; Stroke; Subtypes; TOASTAged 80 and overMiddle AgedTOASTPeripheralStrokeCardiologyFemaleCardiology and Cardiovascular Medicinemedicine.medical_specialtyManometryHyperemiaPulse Wave Analysis03 medical and health sciencesVascular StiffnessPredictive Value of Testsmedicine.arteryInternal medicineHumanscardiovascular diseasesRadial arteryReactive hyperemiaAgedChi-Square Distributionbusiness.industrymedicine.diseaseSurgerybody regionsLogistic ModelsCase-Control StudiesMultivariate AnalysisArterial stiffnessStiffneEndothelium Vascularbusiness030217 neurology & neurosurgery
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Undetectable HCV-RNA at treatment-week 8 results in high-sustained virological response in HCV G1 treatment-experienced patients with advanced liver …

2015

In many countries, first-generation protease inhibitors (PIs)/peginterferon/ribavirin (P/R) still represent the only treatment option for HCV-infected patients. Subjects with advanced disease and previous failure to P/R urgently need therapy, but they are under-represented in clinical trials. All treatment-experienced F3/4 Metavir patients who received boceprevir (BOC)+P/R in the Italian-Spanish Name Patient Program have been included in this study. Multivariate logistic regression analysis (MLR) was used to identify baseline and on-treatment predictors of SVR and adverse events (AEs). Four hundred and sixteen patients, mean age 57.7 (range 25-78 years), 70% males, 69.5% (289/416) F4, 14% (…

MaleSettore MED/09 - Medicina Internaboceprevir; cirrhosis; first-generation protease inhibitors; hepatitis C; IFN-based therapy; Adult; Aged; Antiviral Agents; Drug Therapy Combination; Female; Hepacivirus; Hepatitis C Chronic; Humans; Interferon-alpha; Italy; Male; Middle Aged; Proline; RNA Viral; Ribavirin; Spain; Treatment Outcome; Viral Load; Hepatology; Infectious Diseases; Virology; Medicine (all)Hepacivirusboceprevir; cirrhosis; first-generation protease inhibitors; hepatitis C; IFN-based therapy; Adult; Aged; Antiviral Agents; Drug Therapy Combination; Female; Hepacivirus; Hepatitis C Chronic; Humans; Interferon-alpha; Italy; Male; Middle Aged; Proline; RNA Viral; Ribavirin; Spain; Treatment Outcome; Viral Load; Hepatology; Virology; Infectious DiseasesGastroenterologyIFN-based therapy; boceprevir; cirrhosis; first-generation protease inhibitors; hepatitis Cfirst-generation protease inhibitorchemistry.chemical_compoundLiver diseaseboceprevirMedicineViralChronicSettore MED/12 - Gastroenterologiaboceprevir; cirrhosis; first-generation protease inhibitors; hepatitis C; IFN-based therapy; Adult; Aged; Antiviral Agents; Drug Therapy; Combination; Female; Hepacivirus; Hepatitis C; Chronic; Humans; Interferon-alpha; Italy; Male; Middle Aged; Proline; RNA; Viral; Ribavirin; Spain; Treatment Outcome; Viral Load; Hepatology; Infectious Diseases; Virology; Medicine (all)Medicine (all)virus diseasesHepatitis CMiddle AgedViral LoadSettore MED/07 - Microbiologia e Microbiologia ClinicaHepatitis CInfectious DiseasesTreatment OutcomeItalyHCVCombinationRNA ViralDrug Therapy CombinationFemaleViral loadHumanAdultmedicine.medical_specialtyProlineAlpha interferonInfectious DiseaseAntiviral AgentsDrug TherapyVirologyInternal medicineBoceprevirRibavirinboceprevir; cirrhosis; first-generation protease inhibitors; hepatitis c; IFN-based therapy; adult; aged; antiviral agents; drug therapy combination; female; hepacivirus; hepatitis c chronic; humans; interferon-alpha; italy; male; middle aged; proline; RNA viral; ribavirin; spain; treatment outcome; viral load; hepatology; infectious diseases; virologyHumansDecompensationAdverse effectAgedAntiviral AgentIFN-based therapyHepaciviruHepatologybusiness.industryRibavirincirrhosisInterferon-alphaHepatitis C Chronicmedicine.diseasedigestive system diseasesboceprevir; cirrhosis; first-generation protease inhibitors; hepatitis C; IFN-based therapy; Adult; Aged; Antiviral Agents; Drug Therapy Combination; Female; Hepacivirus; Hepatitis C Chronic; Humans; Interferon-alpha; Italy; Male; Middle Aged; Proline; RNA Viral; Ribavirin; Spain; Treatment Outcome; Viral Loadfirst-generation protease inhibitorschemistrySpainImmunologyRNAbusinesscirrhosi
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