Search results for "F.I.U."

showing 10 items of 2497 documents

De novo mutation in a male patient with Fabry disease: a case report

2014

Abstract Background Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are responsible for FD, including missense and nonsense mutations, small and large deletions. Such mutations are usually inherited, and cases of de novo onset occur rarely. Case presentation In this article we report an interesting case of a 44-year-old male patient suffering from a severe form of Fabry disease, with negative family history. The patient showed signs such as cornea verticillata, ang…

AdultMaleProtein Foldingα-galactosidase ADe novo mutationNonsense mutationD165H mutationGlobotriaosylceramideMutation MissenseCase ReportBiologymedicine.disease_causeGeneral Biochemistry Genetics and Molecular Biologychemistry.chemical_compoundGermline mutationmedicineMissense mutationHumansPoint MutationThrombophiliaEnzyme Replacement TherapyAmino Acid SequenceChildGLA geneConserved SequenceGerm-Line MutationMedicine(all)GeneticsMutationFabry diseaseSequence Homology Amino AcidBiochemistry Genetics and Molecular Biology(all)Point mutationGeneral MedicineEnzyme replacement therapymedicine.diseaseFabry diseasePedigreeStrokechemistryAmino Acid Substitutionalpha-GalactosidaseKidney Failure ChronicFemaleSymptom AssessmentSequence AlignmentBMC Research Notes
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Rapid left ventricular filling in untreated hypertensive subjects with or without left ventricular hypertrophy

1992

In this study, independent contribution of age, HR, BMI, casual and ambulatory blood pressure, LVM and LVEF in evaluating diastolic filling have been investigated in 34 never-treated hypertensive patients and in 15 healthy normotensive subjects. All the subjects were free from coronary artery disease, valvular disease, heart failure, renal disease and psychiatric problems. All the hypertensive subjects (never treated) were subgrouped according to presence or absence of LVH. The PFR decreased significantly and tPFR increased significantly in hypertensive patients in comparison with normotensive subjects and they did not change in the presence vs absence of LVH. The PFR was inversely correlat…

AdultMalePulmonary and Respiratory Medicinemedicine.medical_specialtyAmbulatory blood pressureSettore MED/09 - Medicina InternaDiastoleBlood PressureCritical Care and Intensive Care MedicineLeft ventricular hypertrophyVentricular Function LeftBlood Pressure Echocardiography Female Humans Hypertension/complications Hypertension/physiopathology* Hypertension/radionuclide imaging Hypertension/ultrasonography Hypertrophy Left Ventricular/complications Hypertrophy Left Ventricular/physiopathology* Hypertrophy Left Ventricular/radionuclide imaging Hypertrophy Left Ventricular/ultrasonography Male Middle Aged Radionuclide Angiography Ventricular Function Left*Coronary artery diseaseInternal medicinemedicineHumanscardiovascular diseasesRadionuclide AngiographyEjection fractionbusiness.industryMiddle Agedmedicine.diseaseSettore MED/11 - Malattie Dell'Apparato CardiovascolareMean blood pressureEchocardiographyHeart failureHypertensionCardiologyEnd-diastolic volumeFemaleHypertrophy Left VentricularCardiology and Cardiovascular Medicinebusiness
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Relationship between device acceptance and patient-reported outcomes in Left Ventricular Assist Device (LVAD) recipients

2019

AbstractThe number of Left Ventricular Assist Devices (LVADs) implanted each year is rising. Nevertheless, there are minimal data on device acceptance after LVAD implant, and on its relationship with patient-reported outcomes. We designed a cross-sectional study to address this knowledge gap and test the hypothesis that low device acceptance is associated with poorer quality of life, depression and anxiety. Self-report questionnaires were administered to assess quality of life (12-item Kansas City Cardiomyopathy Questionnaire quality of life subscale), level of anxiety (7-item Generalized Anxiety Disorder; GAD-7), level of depression (9-item Patient Health Questionnaire; PHQ-9) and device a…

AdultMaleQuality of life0301 basic medicinemedicine.medical_specialtyGeneralized anxiety disorderdevice acceptance.body imagemedicine.medical_treatmentPsychological interventionlcsh:MedicineHeart failureArticle03 medical and health sciences0302 clinical medicineQuality of lifemedicineHumansPatient Reported Outcome Measureslcsh:ScienceDepression (differential diagnoses)AgedCardiac device therapyAged 80 and overMultidisciplinarybusiness.industrylcsh:RMiddle Agedmedicine.diseaseLeft Ventricular Assist Deviceanxiety3. Good healthPatient Health QuestionnaireDistress030104 developmental biologyOutcomes researchVentricular assist devicedepressionPhysical therapyAnxietyFemalelcsh:QHeart-Assist Devicesmedicine.symptombusiness030217 neurology & neurosurgeryScientific Reports
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Prevention of ventricular catheter obstruction and slit ventricle syndrome by the prophylactic use of the Integra antisiphon device in shunt therapy …

2010

Object This 25-year follow-up study was performed on 120 children with hypertensive hydrocephalus to evaluate the influence of the early prophylactic implantation of the Integra antisiphon device (ASD, Integra Neurosciences Ltd.) on the rate of proximal shunt obstructions and the frequency of symptomatic slit ventricle syndrome (SVS). The adaptability of the ASD to growth, proper positioning of the ASD as a necessity for its successful performance, and the 3 phases of SVS development are discussed. Method Since 1978, the ASD has consistently been implanted either at the time of primary shunt insertion (66 neonates, mean follow-up 11 years) or during revisions of preexisting shunts (54 chil…

AdultMaleReoperationmedicine.medical_specialtyAdolescentIntracranial PressureHydrostatic pressureInfant Premature DiseasesSlit Ventricle SyndromeCentral nervous system diseaseYoung AdultPostoperative ComplicationsRisk FactorsHydrostatic PressuremedicineHumansYoung adultChildbusiness.industryInfant NewbornInfantEquipment DesignGeneral Medicinemedicine.diseaseSlit Ventricle SyndromeCerebrospinal Fluid ShuntsHydrocephalusSurgeryEquipment Failure AnalysisCatheterEl NiñoChild PreschoolFemaleIntracranial HypertensionbusinessShunt (electrical)Follow-Up StudiesHydrocephalusJournal of Neurosurgery: Pediatrics
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Strategies for reconstruction after unsuccessful or unsatisfactory primary treatment of patients with bladder exstrophy or incontinent epispadias.

1999

Following unsuccessful or unsatisfactory primary treatment in patients with the epispadias/exstrophy complex, the options for a surgical solution to preserve the upper urinary tract, to achieve complete continence, and to reconstruct the external and female internal genitalia are limited. We reviewed the records of the patients treated at our institution to determine a surgical compromise between ingenious operative constructions and patient desires, both of which are secondary to stabilization of renal function.From 1967 to December 1997, 128 patients with bladder exstrophy/epispadias complex were treated, of 80 whom had received previous unsuccessful or unsatisfactory treatment. Of these …

AdultMaleReoperationmedicine.medical_specialtyEpispadiasUrologymedicine.medical_treatmentUrinary incontinenceEpispadiasUrologic Surgical ProcedureUreterosigmoidostomymedicineHumansTreatment FailureChildUrinary bladderbusiness.industryBladder ExstrophyInfantmedicine.diseaseSurgeryBladder exstrophyPlastic surgeryNeck of urinary bladdermedicine.anatomical_structureUrinary IncontinenceChild PreschoolUrologic Surgical ProceduresFemalemedicine.symptombusinessFollow-Up StudiesThe Journal of urology
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Long-Term Results After Liver Transplantation With “Livers That Nobody Wants” Within Eurotransplant: A Center's Experience

2008

Abstract Background Orthotopic liver transplantation (OLT) represents the only curative treatment for end-stage liver disease, but its application is limited because of organ shortages. The purpose of this study was to review the long-term outcomes after OLT during a 2-year period of 45 rescue offers organs within Eurotransplant. Patients and Methods Forty-five deceased donor liver allografts had been officially offered to and rejected by other transplantation centers 162 times prior to our acceptance. Data analysis addressed recurrence of primary disease, ischemic-type biliary lesions (ITBL), re-evaluation or relisting for OLT, re-OLT, as well as overall patient and graft survivals. Result…

AdultMaleReoperationmedicine.medical_specialtyOrthotopic liver transplantationmedicine.medical_treatmentLiver transplantationLiver diseaseCadavermedicineHumansTransplantation HomologousSurvivorsSurvival rateTransplantationbusiness.industryPatient SelectionGraft SurvivalHepatitis CLong term resultsMiddle Agedmedicine.diseaseTissue DonorsLiver TransplantationSurgerySurvival RateTransplantationTreatment Outcomesurgical procedures operativeFemaleSurgeryGraft survivalbusinessLiver FailureTransplantation Proceedings
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Revisional bariatric surgery due to failure of the initial technique: 25 years of experience in a specialized Unit of Obesity Surgery in Spain.

2019

Abstract Objectives To evaluate the effectiveness of conversion surgery in a bariatric surgery unit with 25 years of experience. Method Retrospective observational study of patients with type II obesity or higher who were reoperated by means of conversion surgery due to weight regain, residual body mass index (BMI) >35 kg/m2 or Results A total of 112 patients were included, with a mean age of 40.2 years, who initially underwent vertical banded gastroplasty (VBG) (32.1%), gastric banding (GB) (23.2%), Roux-en-Y gastric bypass (RYGB) (21.4%) and sleeve gastrectomy (SG) (23.2%). The conversion techniques, with a median time between the two surgeries of 70 months, included: RYGB, SG, one-anasto…

AdultMaleReoperationmedicine.medical_specialtySleeve gastrectomyTime FactorsGastroplastymedicine.medical_treatmentGastric BypassAftercareBariatric SurgeryComorbidity030230 surgeryWeight Gain03 medical and health sciences0302 clinical medicinePostoperative ComplicationsWeight lossGastrectomyWeight LossMedicineHumansMass indexTreatment FailurePerioperative PeriodBiliopancreatic DiversionRetrospective StudiesAnthropometrybusiness.industryMortality rateAnastomosis SurgicalGeneral EngineeringRetrospective cohort studyPerioperativeMiddle Agedmedicine.diseaseBiliopancreatic DiversionObesitySurgeryObesity MorbidSpainFemalemedicine.symptombusinessCirugia espanola
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Management of Cochlear Implant Electrode Migration.

2016

The present study reviewed a cochlear implant (CI) patient population after surgery, which received a free-fitting electrode carrier designed for hearing preservation. The aim was to determine the rate of electrode migration of the CI electrodes and present clinical and surgical implications.Retrospective patient review.Tertiary referral university hospital.Two hundred seventy-eight patients implanted uni- or bilaterally with lateral wall electrodes designed for hearing preservation (358 implants). The control group was 323 patients implanted uni- or bilaterally with preformed perimodiolar electrodes (468 implants).Determination of CI electrode migration was conducted according to a clinica…

AdultMaleReoperationmedicine.medical_specialtySpeech perceptionmedicine.medical_treatmentAudiology03 medical and health sciences0302 clinical medicineHearingCochlear implantotorhinolaryngologic diseasesmedicineHumans030223 otorhinolaryngologyCochlear implantationAgedRetrospective StudiesHearing preservationbusiness.industryHearing TestsMiddle AgedCochlear ImplantationSensory SystemsProsthesis FailurePatient populationCochlear ImplantsOtorhinolaryngologySpeech PerceptionFemaleNeurology (clinical)business030217 neurology & neurosurgeryOtologyneurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
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Questionable Value of Adjuvant Arteriovenous Fistula in Pedal Bypass at High Risk for Early Failure

2007

Results of an adjuvant arteriovenous fistula (AVF) in pedal bypass surgery in the presence of poor status of the recipient artery, severely impaired intraoperative runoff, or revision for early failure and flow restitution were analyzed in a retrospective study. From January 1998 to December 2006, 24 adjuvant AVFs were constructed in autologous vein or composite pedal bypasses with low intraoperative bypass flow, poor status of the pedal artery, or during successful early bypass revision to prevent graft failure. All infrainguinal bypass operations were registered in a computerized database and prospectively followed. Pedal bypasses with adjunctive AVF were reviewed for fistula function, gr…

AdultMaleReoperationmedicine.medical_specialtyTime FactorsFistulamedicine.medical_treatmentArteriovenous fistulaRisk AssessmentAmputation SurgicalVeinsBlood Vessel Prosthesis ImplantationArteriovenous Shunt SurgicalIschemiaOcclusionmedicineHumansVascular PatencyTreatment Failurecardiovascular diseasesVascular PatencyAgedRetrospective StudiesAged 80 and overPeripheral Vascular DiseasesLegbusiness.industryPatient SelectionGraft Occlusion VascularRetrospective cohort studyGeneral MedicineMiddle AgedLimb Salvagemedicine.diseaseSurgerybody regionsmedicine.anatomical_structureAmputationBypass surgeryFemaleSurgeryRadiologyCardiology and Cardiovascular MedicinebusinessArteryAnnals of Vascular Surgery
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Reoperation Rates Following Instrumented Lumbar Spine Fusion

2018

Study Design. A prospective cohort study. Objective. This study evaluated the cumulative reoperation rate and indications for reoperation following instrumented lumbar spine fusion (LSF). Summary of Background Data. LSF reduces disability and improves health-related quality of life for patients with several spinal disorders. The rate of instrumented LSF has drastically increased over the last few decades. The increased incidence of LSF, however, has led to increased reoperation rates. Methods. The data are based on the prospective LSF database of Tampere University Hospital that includes all elective indications for LSF surgery. A total of 433 consecutive patients (64% women, mean age 62 ye…

AdultMaleReoperationmedicine.medical_specialtycomplicationssurgical treatmentmedicine.medical_treatmentreoperationadjacent segmentKaplan-Meier EstimateleikkaushoitolannerankaYoung Adult03 medical and health sciences0302 clinical medicineQuality of lifeHumansMedicineOrthopedics and Sports MedicineCumulative incidenceProspective StudiesTreatment Failure030212 general & internal medicineYoung adultortopediaProspective cohort studySurvival rateAgedta3126Aged 80 and overinstrumented lumbar spine fusionLumbar Vertebraebusiness.industryIncidence (epidemiology)ta3141komplikaatiotMiddle AgedConfidence intervalProsthesis FailureSurgerySpinal FusionSpinal fusionorthopedicsFemaleSpinal DiseasesNeurology (clinical)business030217 neurology & neurosurgerySpine
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