Search results for " outcome assessment"

showing 10 items of 59 documents

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

2017

Abstract The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, esp…

0301 basic medicineMaleNeonatal intensive care unitDiseaseReview030105 genetics & heredityPediatricsWhole Exome SequencingNeonateNeonatalOutcome Assessment Health CareDiagnosisPolicy MakingExome sequencingSanger sequencingGenomelcsh:RJ1-570Perinatology and Child HealthSettore MED/38Intensive Care UnitsItalyWhole-exome sequencingPractice Guidelines as TopicsymbolsWESFemaleHumanDiagnosiNICUmedicine.medical_specialtyMendelian03 medical and health sciencessymbols.namesakeOutcome Assessment (Health Care)Neonatal ScreeningNeonatal intensive care unitGeneticIntensive Care Units NeonatalExome SequencingmedicineDiagnosis; Genetic; Genome; Mendelian; Neonatal intensive care unit; Neonate; NICU; WES; WGS; Whole-exome sequencing; Pediatrics Perinatology and Child HealthHumansGenetic TestingIntensive care medicineSettore MED/06 - ONCOLOGIA MEDICAGenetic heterogeneityCritically illbusiness.industryGenome HumanInfant NewbornInfantlcsh:PediatricsNewbornInfant newborn030104 developmental biologyDiagnosis; Genetic; Genome; Mendelian; NICU; Neonatal intensive care unit; Neonate; WES; WGS; Whole-exome sequencing; Female; Genetic Testing; Genome Human; Humans; Infant; Infant Newborn; Intensive Care Units Neonatal; Italy; Male; Neonatal Screening; Outcome Assessment (Health Care); Policy Making; Whole Exome Sequencing; Practice Guidelines as TopicPediatrics Perinatology and Child HealthDifferential diagnosisbusinessWGS
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Prognosis after surgery for multiple endocrine neoplasia type 1-related pancreatic neuroendocrine tumors: Functionality matters

2021

Contains fulltext : 245221.pdf (Publisher’s version ) (Open Access) BACKGROUND: Metastasized pancreatic neuroendocrine tumors are the leading cause of death in patients with multiple endocrine neoplasia type 1. Aside from tumor size, prognostic factors of pancreatic neuroendocrine tumors are largely unknown. The present study aimed to assess whether the prognosis of patients with resected multiple endocrine neoplasia type 1-related nonfunctioning pancreatic neuroendocrine tumors differs from those with resected multiple endocrine neoplasia type 1-related insulinomas and assessed factors associated with prognosis. METHODS: Patients who underwent resection of a multiple endocrine neoplasia ty…

AdultDiagnostic ImagingMalemedicine.medical_specialtyAdolescentBiopsy030230 surgeryNeuroendocrine tumorsGastroenterologyArticleYoung Adult03 medical and health sciences0302 clinical medicineInternal medicineBiopsyTumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]Multiple Endocrine Neoplasia Type 1medicineHumansMEN1Neoplasm MetastasisChildMultiple endocrine neoplasiaLymph nodeInsulinomaAgedNeoplasm StagingCause of deathAged 80 and overmedicine.diagnostic_testbusiness.industryLiver NeoplasmsHazard ratioDisease ManagementMiddle AgedPrognosismedicine.diseaseReconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10]Pancreatic NeoplasmsPatient Outcome AssessmentNeuroendocrine Tumorsmedicine.anatomical_structure030220 oncology & carcinogenesisFemaleSurgeryDisease SusceptibilityNeoplasm GradingbusinessBiomarkers
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Tauroursodeoxycholic acid in the treatment of patients with amyotrophic lateral sclerosis

2015

Background and purpose: Tauroursodeoxycholic acid (TUDCA) is a hydrophilic bile acid that is produced in the liver and used for treatment of chronic cholestatic liver diseases. Experimental studies suggest that TUDCA may have cytoprotective and anti-apoptotic action, with potential neuroprotective activity. A proof of principle approach was adopted to provide preliminary data regarding the efficacy and tolerability of TUDCA in a series of patients with amyotrophic lateral sclerosis (ALS). Methods: As a proof of principle, using a double-blind placebo controlled design, 34 ALS patients under treatment with riluzole who were randomized to placebo or TUDCA (1 g twice daily for 54 weeks) were e…

AdultMale0301 basic medicineamyotrophic lateral sclerosismedicine.medical_specialtyALS - TUDCA - clinical trialmedicine.drug_classPilot ProjectsAmyotrophic lateral sclerosis; Cholic acids; Tauroursodeoxycholic acid; Adult; Aged; Amyotrophic Lateral Sclerosis; Double-Blind Method; Drug Therapy Combination; Female; Humans; Male; Middle Aged; Neuroprotective Agents; Pilot Projects; Riluzole; Taurochenodeoxycholic Acid; Outcome Assessment (Health Care); Neurology; Neurology (clinical)PlaceboNeuroprotectionGastroenterologyTaurochenodeoxycholic AcidOutcome Assessment (Health Care)03 medical and health scienceschemistry.chemical_compound0302 clinical medicineDouble-Blind MethodDrug TherapyInternal medicinemedicineCholic acidHumansAmyotrophic lateral sclerosisAdverse effectAmyotrophic lateral sclerosiAgedtauroursodeoxycholic acidRiluzoleBile acidbusiness.industryTauroursodeoxycholic acidMiddle Agedmedicine.diseaseRiluzoleSurgerySettore MED/26 - NEUROLOGIANeuroprotective Agentscholic acids030104 developmental biologyNeurologychemistryTolerabilityCombinationFemaleNeurology (clinical)business030217 neurology & neurosurgerymedicine.drugEuropean Journal of Neurology
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Effectiveness of Mirror Therapy for Subacute Stroke in Relation to Chosen Factors.

2016

Purpose The aim of this study was to determine the effectiveness of mirror therapy (MT) combined with comprehensive treatment and to investigate the possible relationships of functional state. Design Prospective, controlled trial of 60 stroke inpatients. Methods The Functional Index "Repty" (FIR) was an outcome measure to assess changes of independence in daily activities. The Frenchay Arm Test (FAT) and Motor Status Score were outcome measures to assess changes in hand function. Findings The analysis of pre- and posttest data indicated a significant improvement in hand function ([INCREMENT]FAT in the Mirror group p = .035, N = 30). Age factor indicated a significant change in relation to F…

AdultMale030506 rehabilitationmedicine.medical_specialtyActivities of daily livingSubacute strokePhysical Therapy Sports Therapy and RehabilitationRehabilitation Nursinglaw.invention03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationRandomized controlled triallawFeedback SensoryActivities of Daily LivingmedicineHumansClinical significanceProspective StudiesProspective cohort studyStrokeolder adultsGeneral NursingPhysical Therapy ModalitiesParesisAgedRehabilitationGeneral MedicineMiddle Agedmedicine.diseasemobilityParesisPatient Outcome AssessmentStrokeMirror therapyPhysical therapyFemalemedicine.symptom0305 other medical sciencePsychology030217 neurology & neurosurgeryRehabilitation nursing : the official journal of the Association of Rehabilitation Nurses
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Diagnosis and grading of acute graft-versus-host disease in endoscopic biopsy series throughout the upper and lower intestine in patients after allog…

2019

Intestinal graft-versus-host disease (GvHD) is a potentially life-threatening condition after allogenic hematological stem cell transplantation (alloHSCT). Although efforts have been made to determine the best sites for endoscopic biopsies, an approach involving all accessible anatomical regions is lacking. We investigated 22 complete biopsy series, each comprising biopsies from 10 different sites of the upper and lower intestine from 21 patients. The majority of biopsies investigated revealed histological signs of acute GvHD. The highest incidence and most advanced grades of acute GvHD were found in the right colon and terminal ileum. We detected significant correlations between crypt or g…

AdultMaleCancer Researchmedicine.medical_specialtymedicine.medical_treatmentBiopsyGraft vs Host DiseaseIleumApoptosisHematopoietic stem cell transplantationDiseaseGastroenterologySeverity of Illness Index03 medical and health sciences0302 clinical medicineInternal medicineMedicineHumansTransplantation HomologousGrading (tumors)Agedbusiness.industryStomachHematopoietic Stem Cell TransplantationEndoscopyHematologyMiddle Agedmedicine.diseaseTransplantationPatient Outcome Assessmentsurgical procedures operativemedicine.anatomical_structureGraft-versus-host diseaseOncology030220 oncology & carcinogenesisHematologic NeoplasmsFemaleStem cellbusinessImmunosuppressive Agents030215 immunologyLeukemialymphoma
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A new approach based on Machine Learning for predicting corneal curvature (K1) and astigmatism in patients with keratoconus after intracorneal ring i…

2014

Keratoconus (KC) is the most common type of corneal ectasia. A corneal transplantation was the treatment of choice until the last decade. However, intra-corneal ring implantation has become more and more common, and it is commonly used to treat KC thus avoiding a corneal transplantation. This work proposes a new approach based on Machine Learning to predict the vision gain of KC patients after ring implantation. That vision gain is assessed by means of the corneal curvature and the astigmatism. Different models were proposed; the best results were achieved by an artificial neural network based on the Multilayer Perceptron. The error provided by the best model was 0.97D of corneal curvature …

AdultMaleKeratoconusgenetic structuresComputer sciencemedicine.medical_treatmentHealth InformaticsAstigmatismMachine learningcomputer.software_genreKeratoconusCorneal TransplantationMachine LearningYoung AdultCorneal ectasiaIntracorneal ringsArtificial IntelligenceProsthesis FittingmedicineHumansIn patientCorneal transplantationAgedRing (mathematics)Corneal curvaturebusiness.industryCorneal TopographyAstigmatismProstheses and ImplantsMiddle AgedDecision Support Systems ClinicalPrognosismedicine.diseaseeye diseasesComputer Science ApplicationsPatient Outcome AssessmentTreatment OutcomeFemalesense organsArtificial intelligencebusinesscomputerLENGUAJES Y SISTEMAS INFORMATICOSSoftware
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Effects of resistance training on testosterone metabolism in younger and older men

2015

This study investigated the effects of resistance training (RT) on the metabolism of testosterone (T) in younger (n=5, 28±3yrs.) and older (n=8, 70±2yrs.) men. Experimental heavy resistance exercises (5×10RM leg presses) were performed before and after a 12-month of RT. No age differences were found in the production or metabolic clearance rate of T (determined by stable isotope dilution method), skeletal muscle androgen receptor content or serum LH concentrations due to acute or chronic RT. The T production capacity response to gonadotropin stimulation and the concentrations of the urinary T metabolites (androsterone and etiocholanolone) were lower in the older compared to younger men (p<0…

AdultMaleLuteinizing hormoneAgingmedicine.medical_specialtyta3111AndrosteroneBiochemistryMuscle hypertrophychemistry.chemical_compoundEndocrinologySex hormone-binding globulinInternal medicineEtiocholanoloneGeneticsmedicineHumansTestosteroneMuscle Skeletalta315ExerciseMolecular BiologyTestosteroneAgedEtiocholanoloneAndrosteronebiologyta1184Age FactorsResistance TrainingCell BiologyHypothalamic–pituitary–thyroid axisPatient Outcome AssessmentRenal EliminationAndrogen receptorEndocrinologychemistryReceptors AndrogenIsotope LabelingGnRHbiology.proteinLuteinizing hormoneHormonemedicine.drugExperimental Gerontology
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Italian version of the MD Anderson Symptom Inventory-Head and Neck Module: linguistic validation

2015

Background: Head and neck cancer (HNC) patients can experience symptoms due to the tumor itself or to the treatment, with an impact on health-related quality of life (HRQoL). Patient-reported outcome (PRO) measures pertaining to HRQoL are used in medical research and to support clinical decisions. PRO instrument applicability and cultural adaptation must be tested for each population. The aim of this study is to linguistically validate the Italian translation of the M.D. Anderson Symptom Inventory—Head and Neck Module (MDASI-HN). Methods: Following forward and backward translation of the items of the English MDASI-HN into Italian, it was administered along with a cognitive debriefing to HNC…

AdultMaleSettore M-PSI/01 - Psicologia Generalemedicine.medical_specialtyAdolescentPopulationLinguistic validationItalian MDASI-HNYoung AdultQuality of lifeOutcome Assessment Health CarePatient symptomMedicineHumansPatient symptomsTranslationsHead and neckeducationHead and neck cancerPatient-reported outcomeAgedLanguageAged 80 and overeducation.field_of_studybusiness.industryNursing researchHead and neck cancerReproducibility of ResultsLinguisticsHead and neck cancer; Patient symptoms; Patient-reported outcome; Italian MDASI-HN;Middle Agedmedicine.diseasehumanitiesPatient Outcome AssessmentOncologyItalyHead and Neck NeoplasmsPhysical therapyQuality of LifePatient-reported outcomeFemaleSelf ReportSymptom Assessmentbusiness
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Assessment of functional outcomes in patients with head and neck cancer according to the International Classification of Functioning, Disability and …

2013

Background The International Classification of Functioning, Disability and Health Core Set for Head and Neck Cancer (ICF-HNC) covers the typical spectrum of problems in functioning in head and neck cancer. This study is part of a multistep process to develop practical guidelines in Germany. The purpose of this study was to identify instruments for the assessment of functioning using the ICF-HNC as reference. Methods Four Delphi surveys with physicians, physiotherapists, psychologists, and social workers were performed to identify which aspects of the ICF-HNC are being treated and which assessment tools are recommended for the assessment of functioning. Results Ninety-seven percent categorie…

AdultMalemedicine.medical_specialtyDelphi TechniqueHealth PersonnelDelphi methodInternational Classification of Functioning Disability and HealthInternational Classification of Functioning Disability and HealthHumansMedicineAgedcomputer.programming_languageSocial workbusiness.industryHead and neck cancerPerspective (graphical)Middle Agedmedicine.diseasePatient Outcome AssessmentOtorhinolaryngologyHead and Neck NeoplasmsPhysical therapyFemaleOutcomes researchbusinesshuman activitiescomputerPsychosocialDelphiHead &amp; Neck
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Invasive fungal disease in patients undergoing umbilical cord blood transplantation after myeloablative conditioning regimen

2018

OBJECTIVE Characteristics and risk factors (RFs) of invasive fungal disease (IFD) have been little studied in the setting of umbilical cord blood transplantation (UCBT). METHOD We retrospectively included 205 single-unit myeloablative UCBT recipients with a median follow-up of 64 months. RESULTS Fifty-six episodes of IFD were observed in 48 patients (23%) at a median time of 123 days after stem cell infusion. Invasive mold disease (IMD) occurred in 42 cases, 38 of them (90%) caused by invasive aspergillosis whereas invasive yeast disease (IYD) occurred in 14 cases, most of them due to candidemia (n = 12, 86%). The 5-year cumulative incidence of IFD, IMDs, and IYDs was 24% 19%, and 7%, respe…

AdultMalemedicine.medical_specialtyTransplantation ConditioningMultivariate analysisAdolescentGraft vs Host DiseaseDiseaseAspergillosisSeverity of Illness IndexGastroenterologyYoung Adult03 medical and health sciences0302 clinical medicineAnti-Infective AgentsRisk FactorsCause of DeathInternal medicinemedicineHumansPublic Health SurveillanceCumulative incidenceRetrospective Studiesbusiness.industryUmbilical Cord Blood TransplantationIncidenceHematologyGeneral MedicineMiddle Agedmedicine.diseasePatient Outcome AssessmentGraft-versus-host diseaseMycoses030220 oncology & carcinogenesisFemaleCord Blood Stem Cell TransplantationStem cellComplicationbusiness030215 immunologyEuropean Journal of Haematology
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