Search results for "homozygou"

showing 10 items of 26 documents

Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?

2017

Resistance to thyroid hormone β (RTHβ) due to homozygous THRB defects is exceptionally rare, with only five kindreds reported worldwide. Cardiac dysfunction, which can be life-threatening, is recognized in the disorder. Here we describe the clinical, metabolic, ophthalmic, and cardiac findings in a 9-year-old boy harboring a biallelic THRB mutation (R243Q), along with biochemical, physiologic, and cardiac responses to carbimazole and triiodothyroacetic acid (TRIAC) therapy. The patient exhibits recognized features (goiter, nonsuppressed thyroid-stimulating hormone levels, upper respiratory tract infections, hyperactivity, low body mass index) of heterozygous RTHβ, with additional characteri…

0301 basic medicineCardiac function curvemedicine.medical_specialtyendocrine systemGoiterendocrine system diseasesEndocrinology Diabetes and Metabolism030209 endocrinology & metabolismCase ReportsCardiovascularthyroidresistance to thyroid hormonehomozygous THRB mutation03 medical and health sciences0302 clinical medicineClinical ResearchInternal medicinemedicine2.1 Biological and endogenous factorsDecompensation2. Zero hungercardiac thyrotoxicosisbusiness.industryThyroidDilated cardiomyopathymedicine.disease3. Good health030104 developmental biologyEndocrinologymedicine.anatomical_structureCarbimazoleHeart Disease6.1 PharmaceuticalsBasal metabolic ratebusinessHormonemedicine.drug
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Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features

2020

Abstract Background and aims Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated plasma levels of low density lipoprotein cholesterol (LDL-C) and high risk of premature atherosclerotic cardiovascular disease (ASCVD). HoFH is caused by pathogenic variants in several genes, such as LDLR, APOB and PCSK9, responsible for autosomal dominant hypercholesterolemia (ADH), and LDLRAP1 responsible for autosomal recessive hypercholesterolemia (ARH). Aim of this study was the review of the clinical and molecular features of patients with HoFH identified in Italy from 1989 to 2019. Methods Data were collected from lipid clinics and laboratories, …

Adult0301 basic medicinemedicine.medical_specialtyCandidate geneCandidate geneGenotype-phenotype correlationApolipoprotein BCandidate genes; Genotype-phenotype correlations; Homozygous familial hypercholesterolemia; Pathogenic variantsHomozygous familial hypercholesterolemiaGenotype-phenotype correlationsFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityCandidate genesHyperlipoproteinemia Type II03 medical and health sciences0302 clinical medicineInternal medicinemedicineHumansbiologybusiness.industryPCSK9HomozygoteGenetic disorderPathogenic variantsCandidate genes; Genotype-phenotype correlations; Homozygous familial hypercholesterolemia; Pathogenic variants;medicine.diseasePhenotype030104 developmental biologyEndocrinologyItalyReceptors LDLAutosomal Recessive HypercholesterolemiaMutationLDL receptorbiology.proteinlipids (amino acids peptides and proteins)Proprotein Convertase 9Cardiology and Cardiovascular Medicinebusiness
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Efficacy and safety of lomitapide in homozygous familial hypercholesterolaemia: the pan-European retrospective observational study

2021

Abstract Aims Lomitapide is a lipid-lowering agent indicated as an adjunct therapy for adult homozygous familial hypercholesterolaemia (HoFH). This study evaluated the medium-term effectiveness and safety of lomitapide in a large cohort of HoFH patients in Europe. Methods and results In a multicentre retrospective, observational study including 75 HoFH patients treated with lomitapide in a real-world clinical setting from 9 European countries, low-density lipoprotein cholesterol (LDL-C) changes, adverse events (AEs), and major adverse cardiovascular events (MACE) were assessed. After a median 19 months (interquartile range 11–41 months) of treatment with a mean dosage of 20 mg of lomitapide…

AdultHomozygous Familial HypercholesterolemiaSettore MED/09 - Medicina InternaEpidemiologyAnticholesteremic AgentsHomozygoteMedium-term efficacyCholesterol LDLMedium-term safetyBenzimidazoleLomitapideHomozygous Familial Hypercholesterolemia; atherosclerosis; lomitapide; medium-term efficacy; medium-term safetyHyperlipoproteinemia Type IIHomozygous familial hypercholesterolaemiaRetrospective StudieAtherosclerosiAnticholesteremic AgentHumansBenzimidazolesatherosclerosisCardiology and Cardiovascular MedicineRetrospective StudiesHuman
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Lomitapide affects HDL composition and function

2016

Abstract Background Lomitapide reduces low-density lipoprotein-cholesterol (LDL-C) but also high-density lipoprotein-cholesterol (HDL-C) levels. The latter may reduce the clinical efficacy of lomitapide. We investigated the effect of lomitapide on HDL-C levels and on cholesterol efflux capacity (CEC) of HDL in patients with homozygous familial hypercholesterolemia (HoFH). Methods and results Four HoFH patients were treated with increasing dosages of lomitapide. Lomitapide decreased LDL-C (range −34 to −89%). Total HDL-C levels decreased (range −16 to −34%) with a shift to buoyant HDL. ABCA1-mediated CEC decreased in all patients (range −39 to −99%). The changes of total, ABCG1- and SR-BI-me…

AdultMale0301 basic medicinemedicine.medical_specialtySettore MED/09 - Medicina InternaHDLHomozygous familial hypercholesterolemiaFamilial hypercholesterolemia030204 cardiovascular system & hematologyHyperlipoproteinemia Type IIYoung Adult03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicineHumansMedicineIn patientClinical efficacyHyperlipoproteinemia Type IICholesterolbusiness.industryCholesterol HDLHomozygotenutritional and metabolic diseasesCholesterol LDLCholesterol efflux capacityAtherosclerosismedicine.diseaseCholesterol lowering drugsLomitapideLomitapideCholesterolPhenotypeTreatment Outcome030104 developmental biologyEndocrinologychemistryBenzimidazolesFemalelipids (amino acids peptides and proteins)Composition (visual arts)Cholesterol lowering drugHydroxymethylglutaryl-CoA Reductase InhibitorsLipoproteins HDLCardiology and Cardiovascular MedicinebusinessATP Binding Cassette Transporter 1Atherosclerosis
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Worldwide experience of homozygous familial hypercholesterolaemia:retrospective cohort study

2022

[Background]: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally.

AdultMaleHomozygous Familial HypercholesterolemiaAdolescentretrospective studyCHILDRENDoenças Cardio e Cérebro-vascularesCohort StudiesYoung AdultMedicine General & InternalGeneral & Internal MedicineCardiovascular DiseaseHumansRegistriesLIPOPROTEIN-APHERESISChild11 Medical and Health SciencesRetrospective StudiesHomozygous Familial Hypercholesterolaemia International Clinical CollaboratorsScience & TechnologyGUIDANCEclinical characteristicEVOLOCUMABHomozygous familial hypercholesterolemia; Worldwide; Therapies; Cardiovascular diseaseGeneral MedicineCARECardiovascular diseaseOPEN-LABELEFFICACYINSIGHTSTherapiesChild PreschooloutcomeFemalegeneticFamilial HypercholesterolaemiaLife Sciences & BiomedicineWorldwide
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Treating homozygous familial hypercholesterolemia in a real-world setting: Experiences with lomitapide

2015

Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disease characterised by markedly elevated plasma levels of low-density lipoprotein-cholesterol (LDL-C). Lomitapide is a microsomal triglyceride transfer protein (MTP) inhibitor approved as an adjunct to other lipid-lowering therapies (LLTs), with or without lipoprotein apheresis (LA), for the treatment of adult HoFH. Diet with <20% calories from fat is required. Due to a varying genetic and phenotypic profile of patients with HoFH, individual patients may respond to therapy differently; therefore examining individual cases in a 'real-world' setting provides valuable information on the effective day-to-day manag…

AdultMalemedicine.medical_specialtyCalorieSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismCase studyFamilial hypercholesterolemiaHomozygous familial hypercholesterolemiaFamilial hypercholesterolemiaDiseaseCompound heterozygosityHyperlipoproteinemia Type IIchemistry.chemical_compoundInternal medicineCase study; Familial hypercholesterolemia; Homozygous familial hypercholesterolemia; Lomitapide; Treatment; Cardiology and Cardiovascular Medicine; Endocrinology Diabetes and Metabolism; Internal Medicine; Nutrition and DieteticsInternal MedicinemedicineHumansAdverse effectNutrition and Dieteticsbusiness.industryAnticholesteremic AgentsHomozygoteCholesterol LDLMiddle Agedmedicine.diseaseLomitapideLomitapideTreatmentClinical trialEndocrinologychemistryBenzimidazolesFemaleSteatosisCardiology and Cardiovascular Medicinebusiness
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Triglyceride-rich lipoproteins and their remnants: metabolic insights, role in atherosclerotic cardiovascular disease, and emerging therapeutic strat…

2021

Abstract Recent advances in human genetics, together with a large body of epidemiologic, preclinical, and clinical trial results, provide strong support for a causal association between triglycerides (TG), TG-rich lipoproteins (TRL), and TRL remnants, and increased risk of myocardial infarction, ischaemic stroke, and aortic valve stenosis. These data also indicate that TRL and their remnants may contribute significantly to residual cardiovascular risk in patients on optimized low-density lipoprotein (LDL)-lowering therapy. This statement critically appraises current understanding of the structure, function, and metabolism of TRL, and their pathophysiological role in atherosclerotic cardiova…

CHOLESTERYL ESTER TRANSFERTO-MODERATE HYPERTRIGLYCERIDEMIALipoprotein remnants030204 cardiovascular system & hematologyBioinformaticsResidual riskBrain Ischemiachemistry.chemical_compoundVoeding Metabolisme en Genomica0302 clinical medicineIschaemic strokeAcademicSubjects/MED00200Myocardial infarctionLOW-GRADE INFLAMMATIONALL-CAUSE MORTALITY[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism0303 health sciencesAtherosclerotic cardiovascular diseasedigestive oral and skin physiology[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismCardiovascular diseaseMetabolism and Genomics3. Good healthStrokeLOW-DENSITY LIPOPROTEINSCardiovascular DiseasesMetabolisme en GenomicaCORONARY-ARTERY-DISEASENutrition Metabolism and GenomicsCardiology and Cardiovascular MedicineB-CONTAINING LIPOPROTEINSLipoproteinsTriglyceride-rich lipoproteinsHEART-DISEASE03 medical and health sciencesSpecial ArticleVoedingmedicineHumansHOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIATriglycerides030304 developmental biologyNutritionVLAGTriglyceridebusiness.industryAPO-Bmedicine.diseaseAtherosclerosisResidual riskIncreased riskchemistry3121 General medicine internal medicine and other clinical medicineEuropean atherosclerosis societybusinessLipoprotein
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Extraction of Proteins From Leaves of Homozygous and Heterozygous Citrus for Two-Dimensional Electrophoresis Analysis.

2009

Citrus biothecnology proteomics citrus homozygous genotypes
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Microspore Culture in eleven Cultivars of Loquat

2015

In plant breeding, microspore embryogenesis via isolated microspore culture is increasing as a method to obtain in a single-step doubled haploids and homozygosity. In this study, isolated microspore culture of eleven cultivars of loquat (Eriobotrya japonica (Thunb.) Lindl.) has been carried out. An analysis of anthers from different flower bud sizes, has been carried out, to identify and to select the flower bud size with anthers containing the highest quantity of vacuolated microspores. After a pre-treatment of the panicles at 4°C in dark for 4 days, flower buds were sterilized and microspores were isolated and cultured in two different media (P and MB). Moreover, only the isolated microsp…

EmbryogenesiSettore AGR/03 - Arboricoltura Generale E Coltivazioni ArboreeEriobotrya japonicaHomozygous plantRegenerationHorticulture
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Analysis of interleukin 10 (IL-10) -1082G/A single nucleotide polymorphism (SNP) genotypes in breast cancer (BC) patients (pts) and in >95 years o…

2005

9656 Background:the anti-inflammatory IL-10 -1082 (G/A) SNP might be associated with different risk for breast tumor development. The -1082GG homozygous genotype is associated with an higher IL-10 ...

GeneticsOncologyCancer Researchmedicine.medical_specialtybusiness.industryHomozygous genotypeCancer-FreeSingle-nucleotide polymorphismmedicine.diseaseBreast tumorInterleukin 10Breast cancerOncologyInternal medicineGenotypemedicineSNPbusinessJournal of Clinical Oncology
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