Search results for "Symptomatic"

showing 10 items of 479 documents

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

2006

New technology enables expansion of newborn screening (NBS) of inborn errors aimed to prevent adverse outcome. In conditions with a large share of asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary throughout the United States, Australia, and Europe due to limited data on outcome and treatability of candidate screening conditions. We elaborated the rationale for decision making in 3-methylcrotonyl-coenzyme A (CoA) carboxylase deficiency (MCCD), which afflicts leucine catabolism, with reported outcomes ranging from asymptomatic to death. In Bavaria, we screened 677,852 neonates for 25 conditions, including MCCD, based on elevat…

ProbandMalemedicine.medical_specialtyGenotypePenetranceBiologyAsymptomaticRisk AssessmentCohort StudiesGenetic HeterogeneityNeonatal ScreeningInternal medicineGermanyGeneticsmedicineHumansExpressivity (genetics)Genetics (clinical)AllelesGeneticsNewborn screeningGenetic heterogeneityInfant Newborn3-Methylcrotonyl-CoA carboxylase deficiencymedicine.diseasePenetranceCarbon-Carbon LigasesInborn error of metabolismMutationFemalemedicine.symptomDeficiency DiseasesHuman mutation
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Efficacy of once-daily tiotropium Respimat in adults with asthma at GINA Steps 2-5.

2020

Tiotropium Respimat is an efficacious add-on to maintenance treatment in patients with symptomatic asthma. Currently, the Global Initiative for Asthma (GINA) strategy recommends tiotropium for patients at Steps 4–5. To assess the clinical benefits of tiotropium Respimat across asthma severities, GINA Steps 2–5, a post hoc analysis of five double-blind trials (12–48-weeks; patients aged 18–75 years) investigated the effect of tiotropium Respimat, 5 μg or 2.5 μg, versus placebo, on peak forced expiratory volume in 1 s (FEV1) within 3 h post-dose (FEV1(0–3h)) response, and Asthma Control Questionnaire-7 (ACQ-7) responder rate. GINA step grouping was based on patients’ background treatment regi…

Pulmonary and Respiratory MedicineAdultMalemedicine.medical_specialtyRespimatAdolescentINHALED CORTICOSTEROIDSPlaceboSALMETEROLDouble-Blind MethodADD-ONStatistical significanceInternal medicineAsthma controlPost-hoc analysisAdministration InhalationmedicineHumansPharmacology (medical)Tiotropium BromideCOMBINATIONDisease severityLungAsthmaAgedbusiness.industryTiotropiumBiochemistry (medical)IMPROVES LUNG-FUNCTIONOdds ratioMiddle Agedmedicine.diseaseGINAConfidence intervalLung functionAsthmarespiratory tract diseasesBronchodilator AgentsTreatment OutcomeSAFETYFemaleSalmeterolbusinessmedicine.drugSYMPTOMATIC ASTHMAPulmonary pharmacologytherapeutics
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Factors that influence exhaled nitric oxide in Italian schoolchildren

2008

Conflicting results exist about the meaning of exhaled nitric oxide (eNO) in epidemiologic studies, mainly because of the numerous factors that may affect the measurement.To evaluate the role of the factors that influence eNO levels in a sample of schoolchildren with or without respiratory diseases. We studied 335 schoolchildren, ages 10 to 16 years, from 8 schools in Palermo, Italy. After a respiratory questionnaire was completed, spirometry, skin tests, and eNO measurements were performed.Among 335 children, 13.7% reported symptoms of bronchial asthma, 46.9% reported symptoms of rhinitis, and 39.4% were asymptomatic. The ratio of forced expiratory volume in 1 second to forced vital capaci…

Pulmonary and Respiratory MedicineSpirometryHypersensitivity ImmediateMalemedicine.medical_specialtyPediatricsVital capacityBreath TestAdolescentImmunologySex FactorNitric OxideAsymptomaticAtopySex FactorsInternal medicineSex Factors; Skin Tests; Exhalation; Humans; Asthma; Rhinitis; Child; Italy; Nitric Oxide; Cross-Sectional Studies; Spirometry; Allergens; Hypersensitivity Immediate; Adolescent; Breath Tests; Female; MalemedicineImmunology and AllergyHumansRespiratory systemChildSensitizationRhinitiAsthmaRhinitisSkin TestsCross-Sectional Studiemedicine.diagnostic_testSkin Testbusiness.industryAllergenAllergensmedicine.diseaseAsthmamedicine.anatomical_structureCross-Sectional StudiesBreath TestsItalyExhalationSpirometryExhaled nitric oxideFemalemedicine.symptombusinessHuman
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Persistent tachypnea of infancy: Follow up at school age

2020

Background Persistent tachypnea of infancy (PTI) is a rare pediatric lung disease of unknown origin. The diagnosis can be made by clinical presentation and chest high resolution computed tomography after exclusion of other causes. Clinical courses beyond infancy have rarely been assessed. Methods Patients included in the Kids Lung Register diagnosed with PTI as infants and now older than 5 years were identified. Initial presentation, extrapulmonary comorbidities, spirometry and clinical outcome were analyzed. Results Thirty-five children older than 5 years with PTI diagnosed as infants were analyzed. At the age of 5 years, 74% of the patients were reported as asymptomatic and did not develo…

Pulmonary and Respiratory MedicineSpirometryMaleHigh-resolution computed tomographyPediatricsmedicine.medical_specialtyRespiratory rateTachypneaAsymptomaticPulmonary function testing03 medical and health sciences0302 clinical medicine030225 pediatricsmedicineHumansChildTachypneaLungmedicine.diagnostic_testbusiness.industryInfantRespiratory Function Testsmedicine.anatomical_structure030228 respiratory systemChild PreschoolPediatrics Perinatology and Child HealthFemalePresentation (obstetrics)medicine.symptombusinessFollow-Up Studies
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Late consequences of traumatic rupture of the diaphragm.

2013

A 54-year-old man was admitted to our clinic due to elevated γ-glutamyltransferase, without any clinical symptoms. About 25 years ago, he had undergone blunt abdominal and thoracic trauma during an accident. No diagnostic measures or therapy had been performed at that time. Serum bilirubin was normal, but the values for alanine transaminase, aspartate transaminase, and alkaline phosphatase were slightly above the reference range. Sonography of the abdomen revealed dilated intrahepatic bile ducts up to 3 mm in diameter and steatosis of the liver grade I. CT scan and MRI of the thorax and abdomen showed a giant hiatal hernia with transposition of upper abdominal organs into the chest. As the …

Pulmonary and Respiratory MedicineSpirometryThoraxMalemedicine.medical_specialtyDiaphragmAspartate transaminaseAbdominal InjuriesWounds NonpenetratingAsymptomaticHiatal herniaDiagnosis DifferentialMedicineHumansRupturebiologymedicine.diagnostic_testbusiness.industryMiddle Agedmedicine.diseaseMagnetic Resonance ImagingSurgerymedicine.anatomical_structureAlanine transaminaseVocal foldsbiology.proteinAbdomenSurgeryRadiologymedicine.symptomCardiology and Cardiovascular MedicinebusinessTomography X-Ray ComputedFollow-Up StudiesThe Thoracic and cardiovascular surgeon
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Autogenous Reconstruction of Infected Arterial Prosthetic Grafts Utilizing the Superficial Femoral Vein1

2001

BACKGROUND Prosthetic infection after reconstructive vascular surgery is a most serious complication, associated with high mortality and amputation rates. Following excision of the infected graft, several methods of reconstruction are available. We present here our experience with autogenous reconstruction of infected prosthetic arterial grafts using the superficial femoral vein (SFV). METHODS From November 1995 to December 1999, we used the SFV in seven patients (mean age 70 years) for reconstruction of an infected aortobifemoral (n = 2), aortoiliac (n = 1), femorofemoral bypass (n = 1), femorotibial (n = 2) and carotid crossover bypass (n = 1). Treatment encompassed complete prosthetic ex…

Pulmonary and Respiratory Medicinemedicine.medical_specialtybusiness.industryBasilic Veinmedicine.medical_treatmentFemoral veinPerioperativeVascular surgeryAsymptomaticSurgeryAmputationPopliteal veinMedicineSurgerymedicine.symptomCardiology and Cardiovascular MedicinebusinessComplicationThe Thoracic and Cardiovascular Surgeon
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Ureteral Stones: Shockwave Lithotripsy or Ureteroscopy, Which is Best?

2021

Background Renal stone disease is common and can cause emergency presentation with acute pain due to ureteric colic. International guidelines have stated the need for a multicentre randomised controlled trial (RCT) to determine whether a non-invasive outpatient (shockwave lithotripsy [SWL]) or surgical (ureteroscopy [URS]) intervention should be the first-line treatment for those needing active intervention. This has implications for shaping clinical pathways. Objective To report a pragmatic multicentre non-inferiority RCT comparing SWL with URS. Design, setting, and participants This trial tested for non-inferiority of up to two sessions of SWL compared with URS as initial treatment for ur…

Randomised controlled trialmedicine.medical_specialtyEditorial by Christian Türk Aleš Petřík and Andreas Neisius on pp. 55–56 of this issueUreteral Calculimedicine.diagnostic_testbusiness.industryUrologyGeneral surgeryMEDLINEPlatinum Priority – Stone DiseaseTrialTherapeutic interventions for symptomatic ureteric stonesLithotripsyExtracorporeal shockwave lithotripsyUreteroscopyMedicineHumansUreteroscopybusinessUreteric stonesShockwave lithotripsyEuropean urology
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Endoscopic treatment of intraluminal ureteral suture with holmium laser

2021

Although reconstructive surgery is the most accepted treatment for ureteral injury, there are reports of cases where endourologic treatment led to correct resolution of the problem. We present the case of a female patient aged 72-year-old who was previously underwent sacralcolpopexy because of anterior vaginal compartment prolapse. The patient underwent surgery to remove the mesh, due to the pain she had had since it was placed. A mid-line laparotomy was performed removing completely the mesh. At 48 hours after intervention, the patient started feeling an intense pain in the left renal fossa that was not relieved with anti-inflammatories and morphic drugs. In the diagnostic ureteroscopy, it…

Reconstructive surgerymedicine.medical_specialtyUrologymedicine.medical_treatmentLasers Solid-StateAsymptomaticHolmiumUreterSuture (anatomy)LaparotomymedicineUreteroscopyHumansUreteroscopyAgedmedicine.diagnostic_testSuturesbusiness.industryStentDiseases of the genitourinary system. UrologySurgeryUreteral traumamedicine.anatomical_structureFemaleStentsRC870-923medicine.symptomUreterHomium laserbusinessLigationEndourologyArchivio Italiano di Urologia e Andrologia
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Socio-Demographic Factors Involved in a Low-Incidence Phase of SARS-CoV-2 Spread in Sicily, Italy

2021

Background: The present study analysed SARS-CoV-2 cases observed in Sicily and investigated social determinants that could have an impact on the virus spread. Methods: SARS-CoV-2 cases observed among Sicilian residents between the 1 February 2020 and 15 October 2020 have been included in the analyses. Age, sex, date of infection detection, residency, clinical outcomes, and exposure route have been evaluated. Each case has been linked to the census section of residency and its socio-demographic data. Results: A total of 10,114 patients (202.3 cases per 100,000 residents

Reduced riskLeadership and ManagementSocio demographicsmedia_common.quotation_subjectSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)ImmigrationHealth InformaticsoutcomesAsymptomaticArticleCensus section Outcomes SARS-CoV-2 Socio-demographic factors03 medical and health sciences0302 clinical medicineHealth Information Managementsocio-demographic factorsMedicine030212 general & internal medicineSocial determinants of healthmedia_commonbusiness.industrySARS-CoV-2Health PolicyIncidence (epidemiology)RCensuscensus section030220 oncology & carcinogenesisMedicinemedicine.symptombusinessDemographyHealthcare
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Portal Vein Thrombosis Relevance on Liver Cirrhosis: Italian Venous Thrombotic Events Registry

2016

Portal vein thrombosis may occur in cirrhosis; nevertheless, its prevalence, and predictors are still elusive. To investigate this issue, the Italian Society of Internal Medicine undertook the “Portal vein thrombosis Relevance On Liver cirrhosis: Italian Venous thrombotic Events Registry” (PRO-LIVER). This prospective multicenter study includes consecutive cirrhotic patients undergoing Doppler ultrasound examination of the portal area to evaluate the prevalence and incidence of portal vein thrombosis over a 2-year scheduled follow-up. Seven hundred and fifty-three (68 % men; 64 ± 12 years) patients were included in the present analysis. Fifty percent of the cases were cirrhotic outpatients.…

RegistrieLiver CirrhosisMaleCirrhosisHepatocellular carcinoma030204 cardiovascular system & hematologyGastroenterology0302 clinical medicineEsophageal varicesPrevalenceMedicineProspective StudiesRegistriesProspective cohort studyMultivariate AnalysiVenous ThrombosisPortal VeinAnticoagulants; Esophageal varices; Hepatocellular carcinoma; Liver failure; Splanchnic venous thrombosis; Emergency Medicine; Internal MedicineMiddle AgedPortal vein thrombosisVenous thrombosisSplanchnic venous thrombosis Anticoagulants Liver failure Hepatocellular carcinoma Esophageal varicesSplanchnic venous thrombosisItalyLiverEmergency MedicineFemale030211 gastroenterology & hepatologymedicine.symptomSettore SECS-S/01 - StatisticaHumanmedicine.medical_specialtyLiver CirrhosiSocio-culturaleEsophageal varicesAsymptomatic03 medical and health sciencesAnticoagulants Esophageal varices Hepatocellular carcinoma Liver failure Splanchnic venous thrombosisInternal medicineInternal MedicineHumansAgedHepatologyEsophageal varicebusiness.industryAnticoagulantLiver failureAnticoagulants; Esophageal varices; Hepatocellular carcinoma; Liver failure; Splanchnic venous thrombosis;AnticoagulantsSplanchnic venous thrombosimedicine.diseaseSurgeryProspective StudieSplanchnic venous thrombosis Anticoagulants Liver failure Hepatocellular carcinoma Esophageal varicesMultivariate AnalysisUpper gastrointestinal bleedingComplicationbusinessJournal of Hepatology
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