Search results for "hypertriglyceridemia"

showing 10 items of 82 documents

Effects of gemfibrozil on insulin sensitivity and on haemostatic variables in hypertriglyceridemic patients.

2000

In order to assess the efficacy of gemfibrozil on lipid and haemostatic parameters in patients with plurimetabolic syndrome, a multicenter double-blind placebo controlled, parallel study was carried out in 56 patients with primary hypertriglyceridemia and glucose intolerance. These patients had elevated PAI activity and antigen and t-PA antigen levels at rest and after venous occlusion. Gemfibrozil reduced plasma triglyceride levels (P0.001), whereas it increased free fatty acids (P0.05) and high density lipoprotein cholesterol levels (P0.05). In those patients reaching normalization of plasma triglyceride levels (triglyceride reductionor =50%) (n=15), insulin levels (P0.05) as well as the …

AdultBlood GlucoseMalemedicine.medical_specialtymedicine.medical_treatmentFatty Acids NonesterifiedPlaceboFibrinogenInsulin resistanceDouble-Blind MethodInternal medicinemedicineGemfibrozilHumansInsulinAgedHypolipidemic AgentsHypertriglyceridemiaHemostasisbusiness.industryT-plasminogen activatorInsulinHypertriglyceridemiaParallel studyGlucose Tolerance TestMiddle Agedmedicine.diseaseEndocrinologyGemfibrozilInsulin ResistanceCardiology and Cardiovascular Medicinebusinessmedicine.drugAtherosclerosis
researchProduct

Albumin versus solvent/detergent-treated pooled plasma as replacement fluid for long-term plasma exchange therapy in a patient with primary hypertrig…

2015

Chylomicronemia syndrome is a metabolic condition characterized by severe fasting hypertrigliceridemia (≥ 1000 mg/dL) and other clinical features including chronic abdominal pain and recurrent acute pancreatitis. In patients with acute or recurrent pancreatitis, plasma exchange (PEx) is indicated for the treatment of acute disease and prevention of recurrence. The use of plasma instead of albumin as replacement fluid has been suggested for its putative ability to replace the deficient enzyme possibly leading to better clinical improvement.A 40-year-old man with chylomicronemia syndrome due to a newly identified loss-of-function mutation in the lipoprotein lipase (LPL) gene (IVS2, c.250-1G/C…

AdultHypertriglyceridemiaMaleSettore MED/09 - Medicina InternaPancreatitisAlbuminsplasma exchangeDetergentsHumansPlasmapheresisLPLtriglycerides
researchProduct

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

2016

Background Severe hypertriglyceridemia (HTG) may result from mutations in genes affecting the intravascular lipolysis of triglyceride (TG)-rich lipoproteins. Objective The aim of this study was to develop a targeted next-generation sequencing panel for the molecular diagnosis of disorders characterized by severe HTG. Methods We developed a targeted customized panel for next-generation sequencing Ion Torrent Personal Genome Machine to capture the coding exons and intron/exon boundaries of 18 genes affecting the main pathways of TG synthesis and metabolism. We sequenced 11 samples of patients with severe HTG (TG>885 mg/dL–10 mmol/L): 4 positive controls in whom pathogenic mutations had pre…

AdultMale0301 basic medicineCandidate geneEndocrinology Diabetes and MetabolismDNA Mutational AnalysisNonsense mutationPanel-based NGS sequencing030204 cardiovascular system & hematologyBiologymedicine.disease_causeDNA sequencing03 medical and health sciencessymbols.namesakeExon0302 clinical medicineNutrition and DieteticInternal MedicinemedicineHumansGeneHypertriglyceridemiaSanger sequencingGeneticsMutationNutrition and DieteticsLMF1 geneNonsense mutationHigh-Throughput Nucleotide SequencingInfantMembrane ProteinsIon semiconductor sequencingMiddle AgedIon torrent PGM sequencingPhenotype030104 developmental biologyChild PreschoolsymbolsFemaleCardiology and Cardiovascular MedicineJournal of Clinical Lipidology
researchProduct

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia

2009

Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).Objective: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded.Results: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and recurrent epis…

AdultMaleProbandmedicine.medical_specialtyCandidate geneEndocrinology Diabetes and MetabolismMolecular Sequence DataClinical BiochemistryNonsense mutationContext (language use)macromolecular substances030204 cardiovascular system & hematologyBiologyBiochemistry03 medical and health sciencesExon0302 clinical medicineEndocrinologyInternal medicinemedicineHumansTriglyceridesHypolipidemic Agents030304 developmental biologyHypertriglyceridemia0303 health sciencesLipoprotein lipaseBase Sequencedigestive oral and skin physiologyBiochemistry (medical)Hypertriglyceridemianutritional and metabolic diseasesGenetic VariationLMF1 gene; nonsense mutation; hypertriglyceridemiaLMF1 hypertriglyceridemiamedicine.disease3. Good healthLipoprotein LipaseEndocrinologyCodon NonsenseOriginal Articlelipids (amino acids peptides and proteins)Hepatic lipaseGemfibrozil
researchProduct

Long term hemodialysis aggravates lipolytic activity reduction and very low density, low density lipoproteins composition in chronic renal failure pa…

2009

Abstract Background Dyslipidemia, particularly hypertriglyceridemia is common in uremia, and represents an independent risk factor for atherosclerosis. Methods To investigate the effects of hemodialysis (HD) duration on very low density lipoprotein (VLDL) and low density lipoprotein (LDL) compositions and lipopolytic activities, 20 patients on 5 to 7 years hemodialysis were followed-up during 9 years. Blood samples were drawn at T0 (beginning of the study), T1 (3 years after initiating study), T2 (6 years after initiating study) and T3 (9 years after initiating study). T0 was taken as reference. Results Triacylglycerols (TG) values were correlated with HD duration (r = 0.70, P Conclusion De…

AdultMalelcsh:Diseases of the circulatory (Cardiovascular) systemVery low-density lipoproteinmedicine.medical_specialtyTime Factorsmedicine.medical_treatmentLipolysisBlood lipidsLipoproteins VLDLRisk Assessmentchemistry.chemical_compoundRenal DialysisRisk FactorsInternal medicinemedicineHumansInsulinLongitudinal StudiesTriglyceridesDyslipidemiasLipoprotein lipaseApolipoprotein C-IIICholesterolbusiness.industryHypertriglyceridemianutritional and metabolic diseasesLipaseMiddle Agedmedicine.diseaseAtherosclerosisLipoproteins LDLLipoprotein LipaseEndocrinologyCholesterolchemistrylcsh:RC666-701Low-density lipoproteinLinear ModelsKidney Failure Chroniclipids (amino acids peptides and proteins)Apolipoprotein C-IIFemaleHepatic lipaseHemodialysisCardiology and Cardiovascular MedicinebusinessBiomarkersResearch ArticleBMC cardiovascular disorders
researchProduct

Lipoprotein phenotype and insulin resistance in familial combined hyperlipidemia.

2001

The study objective was to investigate the relationship of insulin resistance (IR) with the lipoprotein phenotype in familial combined hyperlipidemia (FCH). Thirty-seven FCH men diagnosed by clinical and biochemical criteria and classified as lipoprotein phenotype IIa (n = 9), IIb (n = 17), or IV (n = 11) were compared with a healthy control group of 30 men of similar age, body mass index (BMI), waist to hip ratio (WHR), and systolic and diastolic blood pressure. In all subjects, the plasma lipoprotein profile and baseline and post-oral glucose tolerance test (OGTT) glucose and insulin plasma values were measured. An intravenous glucose tolerance test was performed and IR was studied by the…

AdultMalemedicine.medical_specialtyEndocrinology Diabetes and Metabolismmedicine.medical_treatmentLipoproteinsHyperlipidemia Familial CombinedEndocrinologyWaist–hip ratioInsulin resistanceReference ValuesInternal medicineInsulin SecretionmedicineHumansInsulinPancreatic hormoneHypertriglyceridemiaGlucose tolerance testmedicine.diagnostic_testChemistryInsulinHypertriglyceridemiaArea under the curveGlucose Tolerance TestMiddle Agedmedicine.diseaseEndocrinologyPhenotypeInsulin ResistanceLipoproteinMetabolism: clinical and experimental
researchProduct

Moderate intake of n-3 fatty acids is associated with stable erythrocyte resistance to oxidative stress in hypertriglyceridemic subjects.

2001

Background The important triacylglycerol-lowering capacity of n-3 fatty acids is counterbalanced by their inherent sensitivity to oxidation. Inconsistent results about the latter have been reported in hypertriglyceridemic individuals. After incorporation into cell membranes, n-3 fatty acids may alter membrane-related functions. In view of the distinct composition of hypertriglyceridemic membranes and the prooxidant status in this condition, it can be surmised that cell enrichment with the oxidizable n-3 fatty acids will be associated with an increased hemolytic process. Objective We sought to evaluate the effect of fish oil consumption on n-3 fatty acid incorporation into erythrocyte membra…

AdultMalemedicine.medical_specialtyErythrocytesmedicine.medical_treatmentPhospholipidAmidinesMedicine (miscellaneous)BiologyHemolysischemistry.chemical_compoundInternal medicineFatty Acids Omega-3medicineHumansUnsaturated fatty acidChromatography High Pressure Liquidchemistry.chemical_classificationHypertriglyceridemiaNutrition and DieteticsCholesterolVitamin EHypertriglyceridemiaErythrocyte MembraneFatty acidMiddle AgedFish oilmedicine.diseaseHemolysisOxidative StressEndocrinologychemistryFemaleThe American journal of clinical nutrition
researchProduct

Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fast…

2008

Background: Hypertriglyceridemia is a risk factor for cardiovascular disease. Variation in the apolipoprotein A5 (APOA5) and glucokinase regulatory protein (GCKR) genes has been associated with fasting plasma triacylglycerol. Objective: We investigated the combined effects of the GCKR rs780094C→T, APOA5 −1131T→C, and APOA5 56C→G single nucleotide polymorphisms (SNPs) on fasting triacylglycerol in several independent populations and the response to a high-fat meal and fenofibrate interventions. Design: We used a cross-sectional design to investigate the association with fasting triacylglycerol in 8 populations from America, Asia, and Europe (n = 7730 men and women) and 2 intervention studies…

AdultMalemedicine.medical_specialtyGenotypeGene-Nutrient InteractionsMedicine (miscellaneous)Blood lipidsSingle-nucleotide polymorphismPolymorphism Single NucleotideYoung AdultFenofibrateGene FrequencyRisk FactorsInternal medicineHyperlipidemiamedicineHumansGenetic Predisposition to DiseaseApolipoproteins ATriglyceridesAdaptor Proteins Signal TransducingAgedHypolipidemic AgentsHypertriglyceridemiaNutrition and DieteticsFenofibrateGlucokinase regulatory proteinbiologyGlucokinaseHypertriglyceridemianutritional and metabolic diseasesGenetic VariationFastingMiddle Agedmedicine.diseasePostprandial PeriodDietary FatsPostprandialEndocrinologyCross-Sectional StudiesTreatment OutcomeApolipoprotein A-Vbiology.proteinlipids (amino acids peptides and proteins)Femalemedicine.drugThe American journal of clinical nutrition
researchProduct

Homocysteine levels and the metabolic syndrome in a Mediterranean population: A case-control study

2011

Hyperhomocysteinemia (HH) and metabolic syndrome (MS) are associated with increased cardiovascular risk. However, whether there is a link between MS or its components and homocysteine levels in a population without cardiovascular disease is not well established. We conducted a case-control study in 61 MS patients (41 males, 20 females, aged 51 ± 11 years) and in 98 controls without MS (59 males, 39 females, aged 50 ± 10 years) to ascertain the association between MS and HH, and with inflammatory markers. MS was classified according to the updated ATPIII criteria [17]. No differences in homocysteine levels were observed when comparing MS patients and controls (12.0 ± 3.18 μM vs. 11.9 ± 3.5 μ…

AdultMalemedicine.medical_specialtyHyperhomocysteinemiaHomocysteinePhysiologyPopulationHyperhomocysteinemiachemistry.chemical_compoundPhysiology (medical)Internal medicineDiabetes mellitusHumansMedicineeducationHomocysteineAbdominal obesityMetabolic Syndromeeducation.field_of_studyCreatininebusiness.industryHypertriglyceridemiaHematologyMiddle Agedmedicine.diseaseEndocrinologychemistryCardiovascular DiseasesCase-Control StudiesFemalemedicine.symptomMetabolic syndromeCardiology and Cardiovascular MedicinebusinessClinical Hemorheology and Microcirculation
researchProduct

Relapsing and Progressive Complications of Severe Hypertriglyceridemia: Effective Long-Term Treatment with Double Filtration Plasmapheresis

2019

<b><i>Background:</i></b> Severe hypertriglyceridemia (HTG) is associated with major complications such as acute or relapsing pancreatitis (AP) and atherosclerotic cardiovascular disease (ASCVD). Rapid elimination of triglyceride (TG)-rich lipoproteins (LP) with double filtration plasmapheresis (DFPP) without need for substitution has been found to be effective for the acute, short-term treatment of HTG-induced AP. Data on the long-term use of DFPP to prevent HTG-associated complications are scarce. <b><i>Objectives:</i></b> To evaluate the use and efficacy of regular DFPP treatment in clinical practice for preventing recurrence of HTG-associa…

AdultMalemedicine.medical_specialtyMedizin030232 urology & nephrology030204 cardiovascular system & hematologySeverity of Illness IndexGastroenterology03 medical and health sciences0302 clinical medicinePharmacotherapyRefractoryRecurrenceInterquartile rangeInternal medicinemedicineHumansRetrospective StudiesHypertriglyceridemiaPregnancybusiness.industryHypertriglyceridemiaPlasmapheresisHematologyGeneral MedicineMiddle Agedmedicine.disease3. Good healthTreatment OutcomeNephrologyDisease ProgressionAcute pancreatitisFemaleLipodystrophybusinessComplicationBlood Purification
researchProduct