Search results for "Lemi"

showing 10 items of 513 documents

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper fr…

2014

Item does not contain fulltext AIMS: Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance for the recognition and management of HoFH. METHODS AND RESULTS: Early diagn…

Homozygous Familial HypercholesterolemiaSettore MED/09 - Medicina InternaVascular damage Radboud Institute for Health Sciences [Radboudumc 16]MipomersenLipoprotein apheresisGene FrequencyDiagnosisconsensuMedicineChildPhenotypic heterogeneityCiències de la salutAnticholesteremic AgentsHomozygoteCiencias de la saludPedigree3. Good healthEuropePhenotypeCardiovascular DiseasesPractice Guidelines as TopicBlood Component Removallipids (amino acids peptides and proteins)HipercolesterolèmiaHIPERCOLESTEROLEMIA (DIAGNÓSTICO)Cardiology and Cardiovascular MedicineLipoprotein apheresismedicine.medical_specialtyConsensusClinical UpdateEvinacumabReviewsguide line1102 Cardiovascular Medicine And Haematology1016-5169Diagnosis DifferentialHyperlipoproteinemia Type IIGenetic HeterogeneityArcus SenilisHomozygous familial hypercholesterolaemiaGeneticsXanthomatosisHumansGynecologybusiness.industryStatinsHealth sciencesCholesterol LDLAtherosclerosisEzetimibeLomitapideLiver TransplantationEarly DiagnosisCardiovascular System & HematologyHomozygous familial hypercholesterolaemia; consensus; guide lineMutationEuropean atherosclerosis societybusinessAterosclerosiEuropean Heart Journal
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LDL apheresis in a homozygous familial hypercholesterolemic child aged 4.5.

1997

Preliminary experience with the efficacy and safety of dextran sulfate cellulose low-density lipoprotein (LDL) apheresis for the treatment of a 4.5-year-old girl with homozygous familial hypercholesterolemia and coronary artery disease is reported. The decrease of the most atherogenic apolipoprotein B-containing lipoproteins, low-density lipoprotein (LDL) and lipoprotein(a) (Lp [a]), were in the ranges of 63.1-68.7%, and 52.5-58.6%, respectively. The child tolerated LDL apheresis without any clinically significant complications. Therefore, she was submitted to a long-term program of treatment at intervals of 15 days. The experience suggests the possibility of an early beginning of extracorp…

Homozygous Familial Hypercholesterolemiamedicine.medical_specialtyApolipoprotein BBiomedical EngineeringMedicine (miscellaneous)BioengineeringCoronary Disease4.5 years-old girlFamilial hypercholesterolemiaBiomaterialsHyperlipoproteinemia Type IIchemistry.chemical_compoundInternal medicinemedicineCoronary Heart DiseaseHumansHyperlipoproteinemia Type IIbiologybusiness.industryCholesterolHomozygoteGeneral MedicineLipoprotein(a)Low Density Lipoprotein (LDL) apheresis; 4.5 years-old girl; Homozygous Familial Hypercholesterolemia; Coronary Heart Diseasemedicine.diseaseLipoproteins LDLApheresisEndocrinologyCholesterolLow Density Lipoprotein (LDL) apheresischemistryLDL apheresisChild Preschoolbiology.proteinBlood Component Removallipids (amino acids peptides and proteins)FemalebusinessLipoproteinLipoprotein(a)Artificial organs
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Impact of probiotics on risk factors for cardiovascular diseases. A review.

2014

International audience; Probiotic microorganisms have historically been used to rebalance disturbed intestinal microbiota and to diminish gastrointestinal disorders, such as diarrhea or inflammatory bowel diseases (e.g., Crohn's disease and ulcerative colitis). Recent studies explore the potential for expanded uses of probiotics on medical disorders that increase the risk of developing cardiovascular diseases and diabetes, such as obesity, hypercholesterolemia, arterial hypertension, and metabolic disturbances such as hyperhomocysteinemia and oxidative stress. This review aims at summarizing the proposed molecular and cellular mechanisms involved in probiotic-host interactions and to identi…

HypercholesterolemiaHyperhomocysteinemiaDiseaseBiologyIndustrial and Manufacturing Engineeringlaw.invention03 medical and health sciencesProbioticImmune systemRisk Factors[ CHIM.ORGA ] Chemical Sciences/Organic chemistrylawImmunityDiabetes mellitusDiabetes MellitusmedicineAnimalsHumansObesity030304 developmental biology0303 health sciences030306 microbiology[CHIM.ORGA]Chemical Sciences/Organic chemistryMicrobiotaProbioticsImmunityGeneral MedicineLipid Metabolismmedicine.diseaseObesityUlcerative colitisEnzymes3. Good healthIntestinesOxidative StressDiarrheaCardiovascular DiseasesHypertensionImmunologymedicine.symptomFood Science
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Sodium zirconium cyclosilicate: a new potassium binder for the treatment of hyperkalemia

2018

Hyperkalemia is one of the most common electrolyte disturbances, especially among some groups of patients, such as in those with chronic kidney disease, diabetes or heart failure. Hyperkalemia has been associated with increased risks of mortality, arrhythmias, hospitalization and costs, as well as the need to down titrate/discontinue renin-angiotensin-aldosterone system inhibitors (RAASIs), despite their well-known cardiovascular and nephroprotective benefits. Current potassium binders have limitations (slow onset of action, limited selectivity for potassium binding, risk of drug interactions or gastrointestinal intolerance). Sodium zirconium cyclosilicate (SZC) is a new potassium binder re…

Hyperkalemiabusiness.industrySilicatesPotassiumchemistry.chemical_elementPharmacologymedicine.diseaseRenin-Angiotensin Systemchemistry.chemical_compoundchemistryTolerabilityHeart failureDiabetes mellitusPotassiumHumansHyperkalemiaPotassium binderMedicineOnset of actionmedicine.symptombusinessKidney diseaseDrugs of Today
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An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia

2017

We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect. Neither CDG panel analysis with 79 CDG-related genes, nor whole exome sequencing revealed the cause of this CDG. Whole genome sequencing was not performed since th…

Hypoceruloplasminemiacongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtySettore MED/09 - Medicina InternaUrinary systemHypercholesterolemiaArticleInternal medicineNeurohepatic involvementmedicineCDG-IIGlycomicsExome sequencingWhole genome sequencingchemistry.chemical_classificationbiologybusiness.industryHaptoglobinAntithrombinmedicine.diseaseDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]EndocrinologyMALDI TOFchemistryTransferrinbiology.proteinCDGAntibodybusinessCongenital disorder of glycosylationmedicine.drug
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Indicaciones de los inhibidores de PCSK9 en la práctica clínica. Recomendaciones de la Sociedad Española de Arteriosclerosis (SEA), 2019

2019

Resumen Un grupo de expertos convocado por la Sociedad Espanola de Arteriosclerosis (SEA) se ha encargado de actualizar el documento de la SEA sobre las indicaciones de los inhibidores de PCSK9 (iPCSK9) en la practica clinica publicadas en 2016. Esta actualizacion es necesaria porque en el periodo transcurrido hasta la actualidad se han publicado los resultados de los ensayos clinicos realizados a gran escala con iPCSK9 que demuestran que, ademas de su alta potencia para disminuir el colesterol aterogenico, disminuyen el riesgo de presentar episodios de enfermedad cardiovascular aterosclerotica en los pacientes con enfermedad tanto estable como reciente, y con un alto grado de seguridad. La…

Inhibidores de la proproteína convertasa subtilisina kexina 9ArteriosclerosisEnfermedad cardiovascularFamilial hypercholesterolemiaClinical indicationsLow density lipoprotein030204 cardiovascular system & hematologyArteriosclerosi03 medical and health sciencesLipoproteínas de baja densidad0302 clinical medicineIndicaciones clínicasTratamientoPharmacology (medical)030212 general & internal medicineConsensus documentHipercolesterolemia familiarNumber needed to treatCardiovascular diseaseDocumento de consensoTreatmentArterioesclerosiCholesterolProprotein convertase subtilisin kexin 9 inhibitorsCardiology and Cardiovascular MedicineColesterolNúmero necesario a tratar
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RELAZIONI TRA PARAMETRI LIPIDICI E MASSA VENTRICOLARE SINISTRA IN SOGGETTI CON IPERTENSIONE ARTERIOSA ESSENZIALE

2014

Dati non univoci sono riportati in letteratura sul ruolo della dislipidemia nello sviluppo dell’ipertrofia ventricolare sinistra. Scopo del nostro studio, è stato quello di valutare le potenziali associazioni dei principali parametri lipidici con la massa ventricolare sinistra (LVM) in pazienti con ipertensione essenziale (EHs). Abbiamo arruolato 724 soggetti con EH (età media 45±12 anni; 63% maschi), senza complicanze cardiovascolari e non trattati con farmaci ipolipemizzanti. In tutti i soggetti dono stati dosati la colesterolemia totale (Tchol), la trigliceridemia (TG) e il colesterolo HDL (HDLc). Il colesterolo LDL (LDLc) è stato stimato con la formula di Friedewald ed è stato calcolato…

Ipertensione arteriosaDislipidemiaMassa ventricolare sinistraTrigliceridemia.HDL colesterolemia
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A NOVEL LOSS OF FUNCTION MUTATION OF PCSK9 GENE

2006

LDLR genePCSK9 gene; loss of function; missense mutation; LDLR gene; LDL-C; hypocholesterolemic effecthypocholesterolemic effectloss of functionPCSK9 genemissense mutationLDL-C
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Mitä sinulle kuuluu? : lasten subjektiivisia kokemuksia omasta elämästään

2011

Tutkimuksen tarkoituksena oli tuottaa sellaista lapsuutta koskevaa tutkimusta, jossa on kuultu itse lapsia. Päämääränä oli selvittää, miten lapset itse kokevat oman elämänsä ja millaiset asiat ovat lapsen elämässä tärkeitä. Tutkimuksessa tarkasteltiin lasten kokemuksia subjektiivisen hyvinvoinnin rakentumisen näkökulmasta. Hyvinvoinnin subjektiivista luonnetta pyrittiin lähestymään lasten turvallisuuden ja turvattomuuden kokemusten kautta. Tutkimusaineisto on kerätty kahdessa osassa. Ensimmäinen tutkimusaineisto kerättiin 4–6 -luokkalaisilta lapsilta anonyymien kirjoitelmien muodossa keväällä 2010. Kirjoitelmien aiheena oli ”Mitä Sinulle kuuluu, miten Sinulla menee?”. Lisäksi tutkimuksessa …

Lapsen kuuleminenTyytyväisyysturvallisuusSubjektiivinen hyvinvointihyvinvointiOnnellisuuslapset
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Chronic social stress lessens the metabolic effects induced by a high-fat diet

2021

Stress has a major impact on the modulation of metabolism, as previously evidenced by hyperglycemia following chronic social defeat (CSD) stress in mice. Although CSD-triggered metabolic dysregulation might predispose to pre-diabetic conditions, insulin sensitivity remained intact, and obesity did not develop, when animals were fed with a standard diet (SD). Here, we investigated whether a nutritional challenge, a high-fat diet (HFD), aggravates the metabolic phenotype and whether there are particularly sensitive time windows for the negative consequences of HFD exposure. Chronically stressed male mice and controls (CTRL) were kept under (i) SD-conditions, (ii) with HFD commencing post-CSD,…

LeptinMale0301 basic medicinemedicine.medical_specialtyEndocrinology Diabetes and Metabolismmedicine.medical_treatmentAdipose tissue030209 endocrinology & metabolismWhite adipose tissueDiet High-FatWeight GainSocial DefeatSocial defeatMice03 medical and health sciences0302 clinical medicineEndocrinologyInternal medicinemedicineAnimalsInsulinObesitySocial stressbusiness.industryInsulinLeptindigestive oral and skin physiologynutritional and metabolic diseasesfood and beveragesGlucose Tolerance Testmedicine.diseaseObesityMice Inbred C57BL030104 developmental biologyEndocrinologyHypercortisolemiaBlood Group AntigensEnergy IntakebusinessStress Psychologicalhormones hormone substitutes and hormone antagonistsJournal of Endocrinology
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