Search results for " Genetic testing"

showing 5 items of 15 documents

Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

2018

Abstract Background and aims Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients is crucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with the diagnosis in the setting of general medicine is essential to improve FH patient identification. Methods This study evaluated the performance of the Dutch Lipid Clinic Network (DLCN) score in FH patients enrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patients with genetic dyslipidaemias, including FH.…

MaleSettore MED/09 - Medicina InternaGenetic testingPredictive Value of TestFamilial hypercholesterolemia030204 cardiovascular system & hematologyDecision Support Technique0302 clinical medicineRetrospective StudieRisk FactorsCardiovascular DiseaseGenetic MarkerProspective Studies030212 general & internal medicineAge of OnsetProspective cohort studyeducation.field_of_studymedicine.diagnostic_testMiddle AgedDutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testing; Adult; Age of Onset; Biomarkers; Cardiovascular Diseases; Cholesterol LDL; Female; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Humans; Hyperlipoproteinemia Type II; Italy; Male; Middle Aged; Phenotype; Predictive Value of Tests; Prospective Studies; Reproducibility of Results; Retrospective Studies; Risk Assessment; Risk Factors; Decision Support Techniques; Mutation3. Good healthCholesterolPhenotypeItalyCardiovascular DiseasesFemaleCardiology and Cardiovascular MedicineHumanAdultGenetic Markersmedicine.medical_specialtyDutch Lipid Clinic Network scorePopulationFamilial hypercholesterolemiaReproducibility of ResultPhysical examinationDutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testing; Cardiology and Cardiovascular MedicineRisk AssessmentLDLDecision Support TechniquesHyperlipoproteinemia Type II03 medical and health sciencesPredictive Value of TestsInternal medicinemedicineHumansGenetic Predisposition to DiseaseFirst-degree relativeseducationRetrospective StudiesGenetic testingDutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testingbusiness.industryRisk FactorReproducibility of ResultsSettore MED/13 - ENDOCRINOLOGIABiomarkerCholesterol LDLmedicine.diseaseMissing dataDutch Lipid Clinic Network score Familial hypercholesterolemia Genetic testingProspective StudieMutationAge of onsetbusinessBiomarkers
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Monoclonal antibodies in gastrointestinal cancers

2013

Introduction: Among gastrointestinal cancers, colorectal and gastric neoplasms are the most frequent. The development of new targeted drugs improved the efficacy of systemic therapy in advanced stages of those malignancies. Areas covered: This review highlights the main biological processes implicated in gastrointestinal cancer development and progression, such as angiogenesis and epidermal growth factor receptor (EGFR) signaling pathway. On these bases, anti-EGFR and anti-vascular endothelial growth factor (VEGF) monoclonal antibodies in colorectal and gastric cancer are discussed. Data about further monoclonal antibodies in development are also reported. Expert opinion: The use of monoclo…

OncologyVascular Endothelial Growth Factor AColorectal cancerAngiogenesisSettore MED/06 - Oncologia MedicaClinical BiochemistryPredictive Value of TestAntineoplastic AgentVascular Endothelial Growth Factor A; Animals; Antineoplastic Agents; Receptor Epidermal Growth Factor; Humans; Molecular Targeted Therapy; Predictive Value of Tests; Patient Selection; Antibodies Monoclonal; Genetic Testing; Individualized Medicine; Gastrointestinal Neoplasms; Tumor Markers Biological; Signal TransductionGastricDrug DiscoveryMonoclonalEpidermal growth factor receptorMolecular Targeted TherapyPrecision MedicineTumor MarkersColorectalCancerGastrointestinal NeoplasmsbiologyAntibody; Cancer; Colorectal; Gastric; Monoclonal; Animals; Antibodies Monoclonal; Antineoplastic Agents; Gastrointestinal Neoplasms; Genetic Testing; Humans; Individualized Medicine; Molecular Targeted Therapy; Patient Selection; Predictive Value of Tests; Receptor Epidermal Growth Factor; Signal Transduction; Tumor Markers Biological; Vascular Endothelial Growth Factor A; Pharmacology; Clinical Biochemistry; Drug Discovery3003 Pharmaceutical ScienceAntibodies MonoclonalIndividualized MedicineErbB ReceptorsTumor Markers BiologicalGastrointestinal NeoplasmMonoclonalGastric NeoplasmHumanReceptorSignal Transductionmedicine.medical_specialtymedicine.drug_classAntineoplastic AgentsMonoclonal antibodyAntibodiesPredictive Value of TestsInternal medicinemedicineBiomarkers TumorAnimalsHumansGastrointestinal cancerGenetic TestingAntibodyPharmacologyEpidermal Growth Factorbusiness.industryAnimalDrug Discovery3003 Pharmaceutical SciencePatient SelectionCancermedicine.diseaseBiologicalbiology.proteinReceptor Epidermal Growth Factorbusiness
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Two Patients With History of STEC-HUS, Posttransplant Recurrence and Complement Gene Mutations

2013

Hemolytic uremic syndrome (HUS) is a disease of microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. About 90% of cases are secondary to infections by Escherichia coli strains producing Shiga-like toxins (STEC-HUS), while 10% are associated with mutations in genes encoding proteins of complement system (aHUS). We describe two patients with a clinical history of STEC-HUS, who developed end-stage renal disease (ESRD) soon after disease onset. They received a kidney transplant but lost the graft for HUS recurrence, a complication more commonly observed in aHUS. Before planning a second renal transplantation, the two patients underwent genetic screening for aHUS-associat…

Shiga-toxinGraft RejectionMaleDNA Primer030232 urology & nephrologyEscherichia coli InfectionGene mutationurologic and male genital diseasesGastroenterology0302 clinical medicineRecurrenceRisk Factorshemic and lymphatic diseasesImmunology and AllergyPharmacology (medical)gene mutationKidney transplantationEscherichia coli Infections0303 health sciencesKidneymedicine.diagnostic_testShiga-Toxigenic Escherichia coliAntigens CD46Microangiopathic hemolytic anemiaMiddle AgedPrognosisfemale genital diseases and pregnancy complications3. Good healthPedigreemedicine.anatomical_structureComplement Factor IComplement factor I; gene mutation; hemolytic uremic syndrome; kidney transplantation; membrane cofactor protein; Shiga-toxin; Adult; Antigens CD46; Case-Control Studies; Complement Factor I; DNA Primers; Escherichia coli Infections; Female; Genetic Testing; Graft Rejection; Hemolytic-Uremic Syndrome; Heterozygote; Humans; Kidney Failure Chronic; Kidney Transplantation; Male; Middle Aged; Mutation; Pedigree; Prognosis; Recurrence; Risk Factors; Shiga-Toxigenic Escherichia coli; Thrombocytopenia; Young Adult; Transplantation; Immunology and Allergy; Pharmacology (medical)FemaleCase-Control StudieHumanAdultmedicine.medical_specialtyHeterozygotePrognosiComplement factor IMembrane Cofactor Protein03 medical and health sciencesYoung AdultInternal medicinemedicineHumansGenetic Testing030304 developmental biologyGenetic testingDNA PrimersTransplantationbusiness.industryCD46Risk Factormedicine.diseaseKidney TransplantationThrombocytopeniaTransplantationCase-Control StudiesImmunologyHemolytic-Uremic SyndromeMutationhemolytic uremic syndromeKidney Failure ChronicbusinessAmerican Journal of Transplantation
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Vēža ģenētiskās testēšanas laboratorijas izveide Rīgā

2016

Onkoloģiskā saslimšana ir mūsdienās viena no smagākajām diagnozēm, no kuras ik gadu mirst liels cilvēku skaits pasaulē un Latvijā. Katru gadu pieaug pacientu skaits, kuriem ir diagnosticēts kāds no ļaundabīgā audzēja veidiem. Onkoloģijas pacienti ir visas pasaules mēroga problēma, un arī Latvijā vēža pacientu skaita pieaugums ir epidēmijas līmenī pašlaik. Diemžēl Latvijā ir novērojama tendence, ka vēzis tiek diagnosticēts vēlajās tā stadijās. Vēža diagnosticēšana tā agrākajā stadijā nozīmē pacienta dzīvildzes rādītāju pagarinājumu vai pat slimības remisiju. Vēža ģenētika sniedz visaptverošu informāciju par vēža slimības attīstību, tās iespējamajām lokācijām un daudzos gadījumos ar ģenētiskā…

VadībzinātneCancer genetic predisposition testingCancer genetic testingProjectCancer geneticsLaboratory
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Machine Learning for Early Diagnosis of ATTRv Amyloidosis in Non-Endemic Areas: A Multicenter Study from Italy

2023

Background: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is an adult-onset multisystemic disease, affecting the peripheral nerves, heart, gastrointestinal tract, eyes, and kidneys. Nowadays, several treatment options are available; thus, avoiding misdiagnosis is crucial to starting therapy in early disease stages. However, clinical diagnosis may be difficult, as the disease may present with unspecific symptoms and signs. We hypothesize that the diagnostic process may benefit from the use of machine learning (ML). Methods: 397 patients referring to neuromuscular clinics in 4 centers from the south of Italy with neuropathy and at least 1 more red flag, as well as undergoin…

machine learningATTRvGeneral Neurosciencegenetic screeninghereditary amyloid neuropathyTTRTTR; hereditary amyloid neuropathy; genetic screening; ATTRv; machine learning; genetic testinggenetic testingBrain Sciences
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