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showing 10 items of 10618 documents

OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment

2012

medicine.medical_specialtyRetinaCerebellumMutationCiliary basal body dockingCiliumBiologymedicine.disease_causePhenotypeCell biologyEndocrinologymedicine.anatomical_structureInternal medicineGenotypeGeneticsmedicineBasal bodyGenetics (clinical)Clinical Genetics
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Effects of sodium fluoride on the mechanical activity in mouse gastric preparations.

2005

The aim of the present study was to investigate the responses induced by sodium fluoride (NaF) on gastric mechanical activity, using mouse whole-stomach preparations. The mechanical activity was recorded in vitro as changes of intraluminal pressure. In most of the preparations, NaF induced a tetrodotoxin-insensitive biphasic effect characterized by early relaxation followed by slowly developing contractile response. The contraction was dependent on the concentration of NaF, whereas the relaxation was observed at only 10–30 mmol/L NaF. The contractile effect was significantly reduced by nifedipine (an L-type Ca2+channel blocker), ryanodine or ruthenium red (inhibitors of Ca2+release from sar…

medicine.medical_specialtyRuthenium redPhysiologySettore BIO/09 - FisiologiaAdenylyl cyclasechemistry.chemical_compoundMiceNifedipinePhysiology (medical)Internal medicineSodium fluoridemedicineAnimalsChannel blockerEnzyme InhibitorsProtein Kinase CPharmacologyPhospholipase CRyanodine receptorStomachGastric mechanical activity Mouse stomach Smooth muscle Sodium fluorideMuscle SmoothGeneral MedicineNeomycinMice Inbred C57BLEndocrinologychemistryType C PhospholipasesAdenylyl Cyclase InhibitorsSodium FluorideCalciumExtracellular SpaceGastrointestinal Motilitymedicine.drugAdenylyl CyclasesMuscle ContractionCanadian journal of physiology and pharmacology
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Salivary glucose as a non-invasive biomarker of type 2 diabetes mellitus

2018

Background Every year, millions of people are diagnosed with Diabetes mellitus (DM) and the number of new and undiagnosed cases continue to rise. Diagnosis of diabetes is usually performed by blood glucose analysis after fasting for a certain period. However, this method uses an invasive technique that can cause discomfort and even trauma to some patients which could eventually lead to behavioral changes such as avoidance of healthcare and laboratory testing. Studies that explore the diagnostic value of salivary glucose are promising due to the non-invasiveness of the test procedures and its potential correlation with blood results. Material and Methods The study conducted aimed to determin…

medicine.medical_specialtySalivaOral Medicine and Pathologybusiness.industryResearchNon invasive biomarkersType 2 Diabetes Mellitus030209 endocrinology & metabolism030206 dentistrymedicine.diseaseImpaired fasting glucose:CIENCIAS MÉDICAS [UNESCO]Predictive valueGastroenterologyFasting glucose03 medical and health sciences0302 clinical medicineSalivary glucoseDiabetes mellitusInternal medicineUNESCO::CIENCIAS MÉDICASmedicinebusinessGeneral Dentistry
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Biopterin metabolism and eNOS expression during hypoxic pulmonary hypertension in mice.

2013

International audience; Tetrahydrobiopterin (BH$_4$), which fosters the formation of and stabilizes endothelial NO synthase (eNOS) as an active dimer, tightly regulates eNOS coupling / uncoupling. Moreover, studies conducted in genetically-modified models demonstrate that BH$_4$ pulmonary deficiency is a key determinant in the pathogenesis of pulmonary hypertension. The present study thus investigates biopterin metabolism and eNOS expression, as well as the effect of sepiapterin (a precursor of BH$_4$) and eNOS gene deletion, in a mice model of hypoxic pulmonary hypertension. In lungs, chronic hypoxia increased BH$_4$ levels and eNOS expression, without modifying dihydrobiopterin (BH$_2$, t…

medicine.medical_specialtySepiapterinNitric Oxide Synthase Type III[SDV]Life Sciences [q-bio]Hypertension PulmonaryBiopterinlcsh:Medicine[SDV.BC]Life Sciences [q-bio]/Cellular Biology[SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]030204 cardiovascular system & hematology03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineEnosRight ventricular hypertrophyDihydrobiopterinInternal medicinemedicine[SDV.BC.BC] Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]AnimalsHypoxialcsh:Science[SDV.BC] Life Sciences [q-bio]/Cellular Biology030304 developmental biology0303 health sciencesMultidisciplinarybiologylcsh:RHypoxia (medical)biology.organism_classificationmedicine.diseasePulmonary hypertensionBiopterin[SDV] Life Sciences [q-bio]Disease Models AnimalTetrahydrofolate DehydrogenaseEndocrinologychemistryVentricular pressurelcsh:Qmedicine.symptomResearch ArticlePLoS ONE
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Prevention of Atherosclerosis by Interference with the Vascular Nitric Oxide System

2009

Nitric oxide (NO) produced by endothelial NO synthase (eNOS) represents an anti-atherosclerotic principle. NO bioavailability is decreased in atherosclerosis due to increased NO inactivation by reactive oxygen species and reduced NO synthesis. Various types of vascular pathophysiology are associated with oxidative stress, with NADPH oxidases as the major source of reactive oxygen species. These inactivate NO. Also, oxidative stress is likely to be the main cause for oxidation of the essential NOS cofactor, tetrahydrobiopterin (BH(4)). A lack of BH(4) leads to eNOS uncoupling (i.e., uncoupling of oxygen reduction from NO synthesis in eNOS). Based on these pathomechanisms, the therapeutic pot…

medicine.medical_specialtySepiapterinNitric Oxide Synthase Type IIImedicine.drug_classGTP cyclohydrolase INitric Oxidemedicine.disease_causeRenin inhibitorNitric oxidechemistry.chemical_compoundEnosInternal medicineDrug DiscoverymedicineAnimalsHumansHypolipidemic AgentsPharmacologybiologyArteriesTetrahydrobiopterinAtherosclerosisbiology.organism_classificationNitric oxide synthaseOxidative StressTreatment OutcomeEndocrinologychemistrybiology.proteinOxidative stressSignal Transductionmedicine.drugCurrent Pharmaceutical Design
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Current insights into the German lipoprotein apheresis standard: PCSK9-inhibitors, lipoprotein apheresis or both?

2017

Abstract According to current European guidelines, lipid lowering therapy for progressive cardiovascular disease including cardiovascular events has to be focused on a target level for LDL-C. In contrast for Lp(a) a threshold has to be defined with respect to the method of measurement. However, due to new lipid lowering drug developments like PCSK9-inhibitors (PCSK-9-I) a therapeutic algorithm for patients with severe hypercholesterolemia or isolated Lipoprotein(a)-hyperlipoproteinemia with progressive cardiovascular disease may be necessary to manage the use of PCSK9-I, lipoprotein apheresis (LA) or both. The therapeutic approach for patients with homozygous familial hypercholesterolemia i…

medicine.medical_specialtySerine Proteinase InhibitorsDiseaseFamilial hypercholesterolemia030204 cardiovascular system & hematologyRisk AssessmentHyperlipoproteinemia Type II03 medical and health sciencesTherapeutic approach0302 clinical medicineRisk FactorsInternal medicineGermanyInternal MedicinemedicineHumans030212 general & internal medicinePCSK9 Inhibitorsbiologybusiness.industryPCSK9Anticholesteremic AgentsPCSK9 InhibitorsGeneral MedicineLipoprotein(a)Cholesterol LDLmedicine.diseaseCombined Modality TherapyEndocrinologyTreatment OutcomeCardiovascular Diseasesbiology.proteinCardiologyBlood Component Removallipids (amino acids peptides and proteins)Proprotein Convertase 9Cardiology and Cardiovascular MedicinebusinessLipoprotein apheresisBiomarkersLipoproteinLipoprotein(a)Atherosclerosis. Supplements
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Impact of serotonin 2C receptor null mutation on physiology and behavior associated with nigrostriatal dopamine pathway function.

2009

The impact of serotonergic neurotransmission on brain dopaminergic pathways has substantial relevance to many neuropsychiatric disorders. A particularly prominent role has been ascribed to the inhibitory effects of serotonin 2C receptor (5-HT2CR) activation on physiology and behavior mediated by the mesolimbic dopaminergic pathway, particularly in the terminal region of the nucleus accumbens. The influence of this receptor subtype on functions mediated by the nigrostriatal dopaminergic pathway is less clear. Here we report that a null mutation eliminating expression of 5-HT2CRs produces marked alterations in the activity and functional output of this pathway. 5-HT2CR mutant mice displayed i…

medicine.medical_specialtySerotoninDopamineDopamine AgentsPhysiologySubstantia nigraStriatumBiologySettore BIO/09 - FisiologiaPiperazinesArticleMiceDopamine receptor D1Dopamine Uptake InhibitorsDopamineDopamine receptor D2Internal medicineNeural PathwaysmedicineReceptor Serotonin 5-HT2CAnimalsNeuronsBehavior AnimalPars compactaGeneral Neuroscience5-HT2CR substantia nigra pars compacta dorsal striatum dopamine extracellular recording in vivo patch clamp recording microdialysis Locomotor activity Stereotypic behaviorDopaminergicNeurobehavioral disordersBenzazepinesGroomingCorpus StriatumElectrophysiologyMice Inbred C57BLSubstantia NigraAmphetamineEndocrinologymedicine.anatomical_structureDopaminergic pathwaysDopamine AgonistsMutationAutoradiographyStereotyped BehaviorNeuroscienceLocomotionmedicine.drugThe Journal of neuroscience : the official journal of the Society for Neuroscience
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Genetically determined hypercholesterolaemia results into premature leucocyte telomere length shortening and reduced haematopoietic precursors

2020

Abstract Aims Leucocyte telomere length (LTL) shortening is a marker of cellular senescence and associates with increased risk of cardiovascular disease (CVD). A number of cardiovascular risk factors affect LTL, but the correlation between elevated LDL cholesterol (LDL-C) and shorter LTL is debated: in small cohorts including subjects with a clinical diagnosis of familial hypercholesterolaemia (FH). We assessed the relationship between LDL-C and LTL in subjects with genetic familial hypercholesterolaemia (HeFH) compared to those with clinically diagnosed, but not genetically confirmed FH (CD-FH), and normocholesterolaemic subjects. Methods and results LTL was measured in mononuclear cells-d…

medicine.medical_specialtySettore MED/09 - Medicina InternaCellular ageingEpidemiologyHypercholesterolemiaCD34Cellular senescence030204 cardiovascular system & hematologyHyperlipoproteinemia Type II03 medical and health sciencesMice0302 clinical medicineInternal medicineLeukocytesMedicineAnimalsHumansProgenitor cellHaematopoiesi030304 developmental biologyLdl cholesterol0303 health sciencesbusiness.industryCholesterol LDLTelomere3. Good healthTelomereHaematopoiesisIncreased riskEndocrinologymedicine.anatomical_structureCHDTelomeresBone marrowCardiology and Cardiovascular MedicinebusinessFamilial hypercholesterolaemia
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Magnesium and Type 2 Diabetes: An Update

2015

The link between magnesium (Mg) deficiency and type 2 diabetes mellitus is well known. Type 2 diabetes is frequently associated with both extracellular and intracellular Mg deficits. A chronic latent Mg deficit or an overt clinical hypomagnesaemia is common in subjects with type 2 diabetes, especially in those with poorly controlled glycemic profiles. Insulin and glucose are important regulators of Mg metabolism. Intracellular Mg plays a key role in regulating insulin action, insulin-mediated-glucose-uptake and vascular tone. Reduced intracellular Mg concentrations result in a defective tyrosine-kinase activity, postreceptorial impairment in insulin action and worsening of insulin resistanc…

medicine.medical_specialtySettore MED/09 - Medicina InternaDiabetes riskbusiness.industryInsulinmedicine.medical_treatmentType 2 Diabetes MellitusType 2 diabetesmedicine.diseaseInsulin resistanceEndocrinologyInternal medicineDiabetes mellitusmedicineMetabolic syndromebusinessMagnesium Diabetes Metabolic syndrome Hypertension Insulin resistance Inflammation Aging Endothelium Hypomagnesaemia MetabolismGlycemicInternational Journal of Diabetes and Clinical Research
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A novel component of the metabolic syndrome: The oxidative stress

2009

The metabolic syndrome (MS) represents a cluster of cardiovascular (CV) risk factors associated to CV disease and type 2 diabetes. It is still under debate whether MS is a mere aggregation of risk factors or it represents a clinical entity with visceral obesity as underlying pathophysiological trigger. The publication of several diagnostic criteria of MS by scientific associations or experts panels reflects this uncertainty in understanding the real nature of MS. Besides the metabolic disturbances of MS, as visceral obesity, hypertriglyceridemia, low HDL cholesterol, hypertension and hyperglycemia, novel mechanisms of arterial damage have been identified. This paper reviews the evidence sho…

medicine.medical_specialtySettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismMedicine (miscellaneous)Blood lipidsType 2 diabetesDiseaseBiologyBioinformaticsmedicine.disease_causeRisk FactorsInternal medicineDiabetes mellitusmedicineAnimalsHumansDyslipidemiasInflammationMetabolic SyndromeNutrition and DieteticsHypertriglyceridemiaCardiovascular riskmedicine.diseaseObesityOxidative StressEndocrinologyDiabetes Mellitus Type 2Cardiovascular DiseasesObesity AbdominalHypertensionMetabolic syndromeCardiology and Cardiovascular MedicineOxidative stressNutrition, Metabolism and Cardiovascular Diseases
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