Search results for " familial"

showing 10 items of 152 documents

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9…

2012

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for 40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic l…

MaleParentsPathologyphenotype-genotype correlationCohort Studies0302 clinical medicineC9orf72amyotrophic lateral sclerosigeneticsAmyotrophic lateral sclerosisAge of Onsetamyotrophic lateral sclerosis; familial als; C9Orf72; phenotype-genotype correlation0303 health sciencesSex CharacteristicsDNA Repeat ExpansionAdult Age of Onset Aged Amyotrophic Lateral Sclerosis; genetics/pathology Cohort Studies DNA Repeat Expansion DNA; genetics Female Humans Italy Male Middle Aged Mutation; genetics Parents Pedigree Phenotype Proteins; genetics Sex Characteristics Survival AnalysisMiddle Aged3. Good healthPedigreeSettore MED/26 - NEUROLOGIAPhenotypeItalyC9Orf72Settore MED/26 - NeurologiaFemaleFrontotemporal dementiaAdultmedicine.medical_specialtySOD1BiologyTARDBP03 medical and health sciencesInternal medicinemedicineHumans030304 developmental biologyAgedamyotrophic lateral sclerosis familial ALS C9ORF72 gene phenotype–genotype correlationC9orf72 ProteinAmyotrophic Lateral Sclerosisgenetics/pathologyProteinsOriginal ArticlesDNAmedicine.diseaseSurvival AnalysisC9orf72 ProteinSettore BIO/18 - Geneticaamyotrophic lateral sclerosis; familial ALS C9ORF72 gene; phenotype-genotype correlation;MutationNeurology (clinical)Age of onsetTrinucleotide repeat expansionfamilial al030217 neurology & neurosurgery
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Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP

2010

Objective To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation. Design Case series. Clinical details and laboratory results were collected by direct evaluation and previous medical records. DNA analysis was carried out in several affected subjects and healthy individuals. Neuropathologic examination was performed in 2 subjects. Setting Southern Lombardy, Italy. Patients Individuals with and without amyloidosis in 4 unrelated Italian families (N = 37). Main Outcome Measure Genotype-phenotype relationship. Results The affected individuals presented with recurrent headach…

MalePathologymedicine.medical_specialtySubarachnoid hemorrhageGenotypeApolipoprotein E4Glutamic AcidNeuropathologyAmyloid beta-Protein PrecursorGene FrequencyArts and Humanities (miscellaneous)medicineHumansGenetic Predisposition to DiseaseCognitive declineAgedCerebral HemorrhageFamily HealthAmyloid beta-Peptidesbusiness.industryLysineAmyloidosisLeukoaraiosisAutosomal dominant traitMiddle Agedmedicine.diseaseMagnetic Resonance ImagingPeptide FragmentsItalyHemosiderinMutationHereditary cerebral hemorrhage with amyloidosisFemaleNeurology (clinical)businessAmyloidosis FamilialGenome-Wide Association Study
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Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort

2015

Abstract Background and aims The efficacy and safety of lomitapide as adjunct treatment for adults with homozygous familial hypercholesterolaemia (HoFH) have been confirmed in a phase 3 trial. Given the small number of patients (N = 29), and variations in patient characteristics, examining individual cases provides additional details regarding patient management with lomitapide. Here, we examine the details of the Italian patient cohort in the phase 3 trial. Methods and results The methodology of the multinational, single-arm, open-label, 78-week, dose-escalation, phase 3 trial has been previously reported. The current report details the Italian cohort of six patients (three males, three fe…

MalePediatricsTime FactorsSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismHoFHMedicine (miscellaneous)030204 cardiovascular system & hematologychemistry.chemical_compound0302 clinical medicineEndocrinologyReceptorsNutrition and DieteticMedicine030212 general & internal medicineFamilial hypercholesterolaemia; FH; HoFH; Homozygous familial hypercholesterolaemia; Lomitapide; Therapy; Medicine (miscellaneous); Nutrition and Dietetics; Endocrinology Diabetes and Metabolism; Cardiology and Cardiovascular MedicineFH; Familial hypercholesterolaemia; HoFH; Homozygous familial hypercholesterolaemia; Lomitapide; Therapy; Adolescent; Adult; Anticholesteremic Agents; Benzimidazoles; Biomarkers; Cholesterol LDL; Female; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Italy; Male; Middle Aged; Phenotype; Receptors LDL; Time Factors; Treatment Outcome; Young Adult; Heterozygote; MutationNutrition and DieteticsAnticholesteremic AgentsMiddle AgedPatient managementDiabetes and MetabolismCholesterolPhenotypeTreatment OutcomeTolerabilityItalyCohortPopulation studyFemaleFamilial hypercholesterolaemiaCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyHeterozygoteAdolescentSocio-culturaleFHLDLHyperlipoproteinemia Type II03 medical and health sciencesIndividual analysisYoung AdultHomozygous familial hypercholesterolaemiaHumansGenetic Predisposition to DiseaseAdverse effectbusiness.industryCholesterol LDLLomitapideLomitapideClinical trialchemistryReceptors LDLMutationBenzimidazolesTherapybusinessBiomarkers
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Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

2021

Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Dat…

MaleSettore MED/09 - Medicina InternaArterial diseaseCross-sectional studyAdult populationCoronary DiseaseDiseaseGlobal HealthMedical and Health SciencesDoenças Cardio e Cérebro-vascularesAnticholesteremic AgentMonoclonalPrevalenceRegistriesFamilial HypercholesterolemiaHumanizedStroke11 Medical and Health SciencesLS2_9Studies CollaborationAnticholesteremic AgentsGeneral MedicineHeart Disease Risk FactorMiddle AgedFHSC global registry dataEuropeTreatment OutcomeLower prevalenceGuidancelipids (amino acids peptides and proteins)FemaleProprotein Convertase 9Familial hypercholesterolaemiaLife Sciences & BiomedicineHumanAdultmedicine.medical_specialtyCombination therapyFHSC global registry heterozygous familial hypercholesterolaemiaCardiovascular risk factorsAntibodies Monoclonal HumanizedInsightsAntibodiesNOHyperlipoproteinemia Type IIClinicianMedicine General & InternalInternal medicineGeneral & Internal MedicineHealth SciencesmedicineHumansEAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)Cross-Sectional StudieScience & TechnologyGlobal Perspectivebusiness.industryCholesterol LDLmedicine.diseaseCross-Sectional StudiesHeart Disease Risk FactorsHydroxymethylglutaryl-CoA Reductase InhibitorHydroxymethylglutaryl-CoA Reductase Inhibitorsbusiness
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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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Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy

2017

Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lomitapide in HoFH patients followed with the usual clinical care. Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lo…

MaleSettore MED/09 - Medicina InternaHyperlipidemia Familial Combined030204 cardiovascular system & hematologyPharmacologyBenzimidazolecholesterol-lowering effect; clinical practice; genetics; lomitapide; severe hypercholesterolemia; medicine (all); pharmacology (medical)cholesterol-lowering effectchemistry.chemical_compound0302 clinical medicineRetrospective StudieAnticholesteremic Agentgenetics030212 general & internal medicineAged 80 and overAnticholesteremic AgentsHomozygoteGeneral MedicineMiddle Agedclinical practiceSafety profileItalylipids (amino acids peptides and proteins)FemaleHumanAdultmedicine.medical_specialtySocio-culturaleLiver ultrasoundLDLRAP1 geneHyperlipoproteinemia Type II03 medical and health sciencesGeneticInternal medicinemedicineHumansLiver damagemedicine (all)Familial homozygous hypercholesterolemiaAgedRetrospective Studieslomitapidebusiness.industrysevere hypercholesterolemiamedicine.diseaseRheumatologyLomitapidepharmacology (medical)chemistryBenzimidazolesbusinessDyslipidemia
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Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

2016

Tafamidis is a transthyretin (TTR) stabilizer able to prevent TTR tetramer dissociation. There have been a few encouraging studies on Tafamidis efficacy in early-onset inherited transthyretin amyloidosis (ATTR) due to Val30Met mutation. However, less is known about its efficacy in later disease stages and in non-Val30Met mutations. We performed a multi-center observational study on symptomatic ATTR patients prescribed to receive Tafamidis. We followed up patients according to a standardized protocol including general medical, cardiological and neurological assessments at baseline and every 6 months up to 3 years. Sixty-one (42 males) patients were recruited. Only 28 % of enrolled subjects h…

MaleTafamidisAmyloid polyneuropathyNeurologyCardiomyopathyDisease030204 cardiovascular system & hematologySeverity of Illness IndexTransthyretinchemistry.chemical_compound0302 clinical medicinePrealbuminTafamidiLongitudinal StudiesStage (cooking)Aged 80 and overBenzoxazolesbiologyAmyloidosisMiddle Agedamyloid polyneuropathy; tafamidis; transthyretinPrognosisTafamidisSettore MED/26 - NEUROLOGIATreatment OutcomeItalyNeurologyDisease ProgressionFemaleAmyloid polyneuropathy; Tafamidis; Transthyretin; Neurology (clinical); NeurologyAdultmedicine.medical_specialty03 medical and health sciencesInternal medicineSeverity of illnessmedicineHumansAgedAmyloid Neuropathies Familialbusiness.industrynutritional and metabolic diseasesmedicine.diseaseSurgeryTransthyretinchemistryMutationbiology.proteinNeurology (clinical)business030217 neurology & neurosurgeryFollow-Up StudiesJournal of Neurology
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The lipid-lowering effects of lomitapide are unaffected by adjunctive apheresis in patients with homozygous familial hypercholesterolaemia – A post-h…

2015

AbstractObjectiveLomitapide (a microsomal triglyceride transfer protein inhibitor) is an adjunctive treatment for homozygous familial hypercholesterolaemia (HoFH), a rare genetic condition characterised by elevated low-density lipoprotein-cholesterol (LDL-C), and premature, severe, accelerated atherosclerosis. Standard of care for HoFH includes lipid-lowering drugs and lipoprotein apheresis. We conducted a post-hoc analysis using data from a Phase 3 study to assess whether concomitant apheresis affected the lipid-lowering efficacy of lomitapide.MethodsExisting lipid-lowering therapy, including apheresis, was to remain stable from Week −6 to Week 26. Lomitapide dose was escalated on the basi…

MaleTime FactorsSettore MED/09 - Medicina InternaGastroenterologyMicrosomal triglyceride transfer proteinchemistry.chemical_compoundLipoprotein apheresisMedicineHyperlipoproteinemia Type IIHomozygous familial hypercholesterolaemia; Lipoprotein apheresis; Lomitapide; Adult; Anticholesteremic Agents; Benzimidazoles; Biomarkers; Blood Component Removal; Cholesterol LDL; Combined Modality Therapy; Female; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Lipoprotein(a); Male; Phenotype; Time Factors; Treatment Outcome; Young Adult; Homozygote; Cardiology and Cardiovascular MedicinebiologyAnticholesteremic AgentsHomozygoteLipoprotein(a)Combined Modality TherapyCholesterolPhenotypeTreatment OutcomeBlood Component Removallipids (amino acids peptides and proteins)FemaleCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtySocio-culturaleLipoprotein apheresiArticleLDLHyperlipoproteinemia Type IIYoung AdultHomozygous familial hypercholesterolaemiaInternal medicinePost-hoc analysisHumansGenetic Predisposition to DiseaseHomozygous familial hypercholesterolaemia; Lipoprotein apheresis; Lomitapide; Cardiology and Cardiovascular Medicinebusiness.industryCholesterol LDLLomitapideLomitapideEndocrinologyApheresischemistryConcomitantAdjunctive treatmentbiology.proteinBenzimidazolesbusinessBiomarkersLipoprotein(a)Atherosclerosis
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Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy

2016

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an inherited amyloidosis, leading to death in about ten years in most cases due to cardiac failure or wasting syndrome. Previous studies showed that modified body mass index was related to time before death, duration of gastrointestinal disturbances, malabsorption and functional capacity. We report two patients in whom nutritional status worsened despite diet modification, hypercaloric supplement and two relevant therapeutic approaches such as liver transplant and tafamidis meglumine, respectively. The first patient, a 52-year-old lady carrying Thr49Ala mutation, had a disease duration of twelve years and had lost weight up to 35 kg…

Malemedicine.medical_specialtyPediatricsMalabsorptionNausea030204 cardiovascular system & hematologyPediatrics03 medical and health sciences0302 clinical medicineQuality of lifeNutritional statusMedicineHumansWasting SyndromeTTR-FAPGenetics (clinical)Amyloid Neuropathies FamilialFamilial amyloid polyneuropathy; Modified body mass index (mBMI); Nutritional status; Parenteral nutrition; TTR-FAP; Neurology (clinical); Pediatrics Perinatology and Child Health; Genetics (clinical); Neurologybiologybusiness.industryAmyloidosisMiddle AgedPerinatology and Child Healthmedicine.diseaseParenteral nutritionSurgeryTransthyretinParenteral nutritionTreatment OutcomeAutonomic Nervous System DiseasesNeurologyFamilial amyloid polyneuropathyPediatrics Perinatology and Child Healthbiology.proteinQuality of LifeFemaleNeurology (clinical)medicine.symptombusinessBody mass index030217 neurology & neurosurgeryModified body mass index (mBMI)
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Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm,…

2013

Summary Background Patients with homozygous familial hypercholesterolaemia respond inadequately to existing drugs. We aimed to assess the efficacy and safety of the microsomal triglyceride transfer protein inhibitor lomitapide in adults with this disease. Methods We did a single-arm, open-label, phase 3 study of lomitapide for treatment of patients with homozygous familial hypercholesterolemia. Current lipid lowering therapy was maintained from 6 weeks before baseline through to at least week 26. Lomitapide dose was escalated on the basis of safety and tolerability from 5 mg to a maximum of 60 mg a day. The primary endpoint was mean percent change in levels of LDL cholesterol from baseline …

Malemedicine.medical_specialtySettore MED/09 - Medicina InternaMipomersenPhases of clinical researchSocio-culturaleFamilial hypercholesterolemialdl-apheresismtp inhibitorBenzimidazoleMicrosomal triglyceride transfer proteinHyperlipoproteinemia Type IIchemistry.chemical_compoundlipid lowering therapyInternal medicineClinical endpointMedicinelomitapidebiologybusiness.industryCholesterolMedicine (all)Homozygotelomitapide; ldl-apheresis; lipid lowering therapy; homozygous familial hypercholesterolemia; mtp inhibitorGeneral MedicineCholesterol LDLhomozygous familial hypercholesterolemiamedicine.diseaseLomitapideEndocrinologyTolerabilitychemistrybiology.proteinFemalebusinessCarrier ProteinHuman
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