Search results for "Lipid Metabolism Disorders"

showing 5 items of 5 documents

Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bro…

2009

We report a familial Sotos syndrome in two children, boy and girl, aged 17 and 8 years, and in their 44 year old mother, who displayed normal intelligence at adult age, but suffered from insulin dependent diabetes mellitus, bronchial asthma, and severe lipedema. The underlying missense mutation, C2175S, occurred in a conserved segment of the NSD1 gene. Our findings confirm that familial cases of SS are more likely to carry missense mutations. This case report may prove useful to avoid underestimation of the recurrence rate of SS, and to demonstrate that the developmental delay may normalize, enabling an independent life and having an own family.

AdultMalemedicine.medical_specialtyPediatricsAdolescentLipid Metabolism DisordersMutation MissenseGermanyInternal medicineImmunopathologyGeneticsHumansMedicineMissense mutationGrowth DisordersGenetics (clinical)AsthmaAutoimmune diseaseType 1 diabetesbusiness.industrySotos syndromeRespiratory diseaseIntracellular Signaling Peptides and ProteinsLipoedemaNuclear ProteinsHistone-Lysine N-MethyltransferaseSyndromeGeneral Medicinemedicine.diseaseAsthmaDiabetes Mellitus Type 1EndocrinologyHistone MethyltransferasesFemalebusinessEuropean Journal of Medical Genetics
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Altered lipid metabolism in a Drosophila model of Friedreich's ataxia

2010

13 páginas, 5 figuras.-- et al.

MaleAtaxiaCell SurvivalLipid Metabolism Disordersmedicine.disease_causeNervous SystemAnimals Genetically ModifiedLipid peroxidationchemistry.chemical_compoundDownregulation and upregulationIron-Binding ProteinsLipid dropletGeneticsmedicineAnimalsDrosophila ProteinsHumansMolecular BiologyGenetics (clinical)Membrane GlycoproteinsbiologyCélulas glialesFatty AcidsLipid metabolismArticlesGeneral MedicineCell biologyDisease Models AnimalOxidative Stressmedicine.anatomical_structurechemistryBiochemistryFriedreich AtaxiaFrataxinbiology.proteinNeurogliaDrosophilaLipid Peroxidationmedicine.symptomCarrier ProteinsNeurogliaOxidative stress
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ApoB100,LDLR-/- mice exhibit reduced electroretinographic response and cholesteryl esters deposits in the retina

2008

International audience; PURPOSE. To evaluate the retinal phenotype of 7- and 14-month-old apoB100,LDLR–/– mice, a relevant animal model of lipid metabolism dysfunction. METHODS. Single-flash electroretinograms were obtained from 7- and 14-month-old apoB100,LDLR–/– and control mice fed a standard diet under both scotopic and photopic conditions. Visual cycle retinoids were analyzed in eyes from dark-adapted mice. Retinal and choroidal vascularization was evaluated with scanning laser ophthalmoscopy. Fatty acids were analyzed in the retina. Esterified and free cholesterol was detected in eye cryosections. RESULTS. Scotopic and photopic b-wave amplitudes were significantly reduced in apoB100,L…

MaleHUMAN BRUCHS MEMBRANEgenetic structuresHIGH-FAT DIETLipid Metabolism DisordersBasement MembraneAGE-RELATED MACULOPATHYchemistry.chemical_compoundMice0302 clinical medicine[SDV.IDA]Life Sciences [q-bio]/Food engineeringFluorescein AngiographyPigment Epithelium of EyeTRANSGENIC MICE0303 health sciencesmedicine.diagnostic_testROD OUTER SEGMENTSmedicine.anatomical_structureBiochemistryHUMAN APOLIPOPROTEIN-BApolipoprotein B-100Femalelipids (amino acids peptides and proteins)Cholesterol EstersPhotopic visionVisual phototransductionmedicine.medical_specialtyDark AdaptationMice TransgenicBiologyRetinaRECEPTOR-NEGATIVE MICE03 medical and health sciencesRetinoidsRetinal DiseasesBASAL DEPOSITSInternal medicinemedicineElectroretinographyAnimals[SPI.GPROC]Engineering Sciences [physics]/Chemical and Process EngineeringFilipinHUMAN ATHEROSCLEROTIC LESIONS030304 developmental biologyRetinaRetinal pigment epitheliumRetinalMacular degenerationmedicine.diseaseMACULAR DEGENERATIONeye diseasesMice Inbred C57BLOphthalmoscopyEndocrinologychemistryReceptors LDLLDL receptor030221 ophthalmology & optometrysense organsPhotic StimulationElectroretinography
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Low physical activity and its association with diabetes and other cardiovascular risk factors: a nationwide, population-based study

2016

Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM; ISCIII Ministerio de Ciencia e Innovacion); Ministerio de Sanidad y Consumo; Spanish Diabetes Society (SED)

QuestionnairesMaleDislipidemiasCross-sectional studyEstudios transversalesEspañaObesidadÍndice de masa corporalBiochemistryBody Mass Index0302 clinical medicineEndocrinology:Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Musculoskeletal Physiological Phenomena::Musculoskeletal Physiological Processes::Movement::Motor Activity [Medical Subject Headings]Public and Occupational Healthlcsh:Science:Phenomena and Processes::Physiological Phenomena::Nutritional Physiological Phenomena::Diet::Diet Mediterranean [Medical Subject Headings]:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Prevalence [Medical Subject Headings]:Chemicals and Drugs::Lipids::Glycerides::Triglycerides [Medical Subject Headings]:Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings]Aged 80 and overDiabetis:Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Lipid Metabolism Disorders::Dyslipidemias [Medical Subject Headings]:Phenomena and Processes::Physiological Phenomena::Body Constitution::Body Weights and Measures::Body Size::Body Weight::Overweight::Obesity::Obesity Abdominal [Medical Subject Headings]Cardiovascular DiseasesObesitatEnfermedades cardiovascularesFactores de riesgomedicine.medical_specialtyEndocrine Disorders:Chemicals and Drugs::Lipids::Lipoproteins::Lipoproteins HDL::Cholesterol HDL [Medical Subject Headings]:Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Habits::Smoking [Medical Subject Headings]QüestionarisTriglicéridosExercici -- Aspectes sanitaris03 medical and health sciencesDiabetes MellitusHumans:Diseases::Cardiovascular Diseases [Medical Subject Headings]ExerciseAgedSurvey ResearchMalalties cardiovascularsPreventionlcsh:REnfermedad crónicaBiology and Life SciencesPhysical ActivityInsulin-resistancemedicine.diseaseActividad motoraObesityLipid metabolismCross-Sectional StudiesDyslipidemiaAdherenceGlucosalcsh:QBody mass indexDyslipidemiaDemography:Psychiatry and Psychology::Behavior and Behavior Mechanisms::Psychology Social::Life Style::Sedentary Lifestyle [Medical Subject Headings]PhysiologyPhysical fitnessSistema cardiovascular -- Malalties:Chemicals and Drugs::Carbohydrates::Monosaccharides::Hexoses::Glucose [Medical Subject Headings]lcsh:Medicine:Phenomena and Processes::Physiological Phenomena::Body Constitution::Body Weights and Measures::Body Size::Body Weight::Overweight::Obesity [Medical Subject Headings]:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [Medical Subject Headings]Obesidad abdominalGeographical LocationsGlucose MetabolismRisk FactorsHábito de fumarMedicine and Health SciencesPrevalence030212 general & internal medicinePrediabetes:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Surveys and Questionnaires [Medical Subject Headings]Multidisciplinary:Diseases::Pathological Conditions Signs and Symptoms::Pathologic Processes::Disease Attributes::Chronic Disease [Medical Subject Headings]DiabetesMiddle Aged:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cross-Sectional Studies [Medical Subject Headings]EuropeEncuestas y cuestionariosPhysiological ParametersResearch DesignCarbohydrate MetabolismFemaleResearch ArticleAdultAdolescent030209 endocrinology & metabolismVida sedentariaResearch and Analysis MethodsHDL-colesterolYoung AdultSex FactorsDiabetes mellitusmedicineAdultsObesityEspanya:Diseases::Endocrine System Diseases::Diabetes Mellitus::Prediabetic State [Medical Subject Headings]Sedentary lifestylebusiness.industryEstado prediabéticoBody WeightPhysical fitnessDieta mediterráneaMetabolisme dels lípidsDietMetabolismSpainMetabolic DisordersPeople and PlacesPhysical therapySedentary BehaviorbusinessPrevalenciaCondició física
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Protrhombotic Effects of Contraceptives

2010

The use of oral contraceptives first became widespread some 40 years ago, and reports of an excess risk of cardiovascular disease among women who used these agents soon followed. Few drugs have been the object of such intensive epidemiological research, the outcome of which has provided clinicians with detailed information about risks not only of specific thrombotic diseases but also important non-contraceptive benefits from the pill. Recently, oral contraceptives have been classified by some according to "generation" (first, second, third, and most recently, fourth generation): first-generation formulations containing lynestrenol or norethindrone, second-generation formulations containing …

medicine.medical_specialtymedicine.drug_classLipid Metabolism DisordersMyocardial InfarctionPhysiologyGestodeneRisk AssessmentRisk FactorsDesogestrelInternal medicineDrug DiscoverymedicineHumansLevonorgestrelGlucose Metabolism DisordersVenous ThrombosisPharmacologyHemostasisbusiness.industryModels CardiovascularAtherosclerosisLipid MetabolismNorgestimateSettore MED/11 - Malattie Dell'Apparato CardiovascolareLynestrenolEndocrinologyEstrogenPillHypertensionFemaleRisk assessmentbusinessTrhombosis contraceptivesContraceptives Oralmedicine.drugCurrent Pharmaceutical Design
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