Search results for " Type 1"

showing 10 items of 430 documents

Identification of glyoxalase 1 polymorphisms associated with enzyme activity.

2013

The glyoxalase system and its main enzyme, glyoxalase 1 (GLO1), protect cells from advanced glycation end products (AGEs), such as methylglyoxal (MG) and other reactive dicarbonyls, the formation of which is increased in diabetes patients as a result of excessive glycolysis. MG is partly responsible for harmful protein alterations in living cells, notably in neurons, leading to their dysfunction, and recent studies have shown a negative correlation between GLO1 expression and tissue damage. Neuronal dysfunction is a common diabetes complication due to elevated blood sugar levels, leading to high levels of AGEs. The aim of our study was to determine whether single nucleotide polymorphisms (S…

AdultMalemedicine.medical_specialtyGenotypeType 2 diabetesPolymorphism Single Nucleotidechemistry.chemical_compoundEnzyme activatorLactoylglutathione lyaseInternal medicineDiabetes mellitusGeneticsmedicineHumansAllelesGeneticsType 1 diabetesbiologyMethylglyoxalLactoylglutathione LyaseGeneral MedicineMiddle Agedmedicine.diseaseEnzyme assayEnzyme ActivationEndocrinologyDiabetes Mellitus Type 1chemistryDiabetes Mellitus Type 2biology.proteinFemaleGlyoxalase systemGene
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Autoantibodies to the islet antigen ICA69 occur in IDDM and in rheumatoid arthritis.

1995

Islet cell antigen (ICA) 69 is a newly-recognized islet cell antigen to which autoantibodies have been observed in prediabetic relatives of patients with insulin-dependent-diabetes mellitus (IDDM). Here we extend the earlier analysis of ICA69 antibodies to patients with recent-onset IDDM and to patients with other immune-mediated diseases. ICA69 antibodies were determined by Western blot using an affinity purified recombinant fusion protein of ICA69 and maltose binding protein. ICA69 antibody quantities were determined as titres using a titration curve of a standard serum as reference. Mean logarithmic ICA69 antibody titres were 3.4 (+/- 1.4) in 99 patients with acute IDDM compared to 2.8 (…

AdultMalemedicine.medical_specialtyMultiple SclerosisTime Factorsendocrine system diseasesAdolescentEndocrinology Diabetes and MetabolismRecombinant Fusion ProteinsBlotting WesternArthritisAutoantigensArthritis RheumatoidAntigenCrohn DiseaseInternal medicineImmunopathologyInternal MedicinemedicineHumansFamilyChildAutoantibodiesAutoimmune diseasegeographygeography.geographical_feature_categorybiologybusiness.industryAutoantibodyThyroiditis AutoimmuneInfantMiddle AgedIsletmedicine.diseaseGraves DiseaseEndocrinologyDiabetes Mellitus Type 1Rheumatoid arthritisChild PreschoolImmunologybiology.proteinColitis UlcerativeFemaleAntibodybusinessFollow-Up StudiesDiabetologia
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Association of reduced glyoxalase 1 activity and painful peripheral diabetic neuropathy in type 1 and 2 diabetes mellitus patients

2013

Abstract Aims The present study was undertaken to investigate the relationship between glyoxalase 1 (Glo1) enzyme activity and painful diabetic neuropathy (DN) in patients with diabetes mellitus. Methods Glo1 activity and biochemical markers were determined in blood samples from 108 patients with type 1 diabetes, 109 patients with type 2 diabetes, and 132 individuals without diabetes as a control. Painful and painless peripheral DN was assessed and multivariate regression analysis was used to determine independent association of Glo1 activity with occurrence of painful DN. Results In patients with type 1 and type 2 diabetes mellitus and painful DN compared to patients with painless DN, Glo1…

AdultMalemedicine.medical_specialtyMultivariate analysisEndocrinology Diabetes and MetabolismPainType 2 diabetesSeverity of Illness IndexGastroenterologyEndocrinologyDiabetic NeuropathiesInternal medicineDiabetes mellitusInternal MedicinemedicineHumansPain MeasurementGlycated HemoglobinType 1 diabetesbusiness.industryConfoundingLactoylglutathione LyasePeripheral Nervous System DiseasesType 2 Diabetes MellitusMiddle Agedmedicine.diseasePeripheralDiabetes Mellitus Type 1EndocrinologyDiabetes Mellitus Type 2Painful diabetic neuropathyDisease ProgressionFemalebusinessBiomarkersJournal of Diabetes and its Complications
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Assessment of induced corneal hypoxia in diabetic patients

2002

Comparative Study Address correspondence and reprint requests to Dr. C. Creuzot-Garcher, Service d'Ophtalmologie, CHU, Hopital Général, 3 Rue du Faubourg Raines, BP 1519, 21033 Dijon, France. E-mail: Catherine.creuzot-garcher@chu-dijon.fr; To assess the control of corneal hydration in patients with diabetes during a contact lens-induced hypoxia. Corneal stress was induced in 15 patients with diabetes and 23 healthy patients by having them wear contact lenses for 2 hours. Pachymetries were measured and corneal parameters (percentage recovery per hour [PRPH], time for deswelling [T99%] and induced swelling [IS]) were calculated. In the mean time, tears were collected to assess the activity of…

AdultMalemedicine.medical_specialtyPathologyCell CountCorneachemistry.chemical_compoundStress PhysiologicalOphthalmologyLactate dehydrogenaseDiabetes mellitusHumansMedicineIn patient[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory OrgansHypoxiaAged[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyL-Lactate Dehydrogenasebusiness.industryCorneal EdemaEndothelium CornealMiddle AgedHypoxia (medical)Contact Lenses Hydrophilicmedicine.diseaseeye diseasesOphthalmologyDiabetes Mellitus Type 1Diabetes Mellitus Type 2chemistry[SDV.MHEP.OS] Life Sciences [q-bio]/Human health and pathology/Sensory OrgansTearsTearsFemaleCorneal hypoxiasense organsmedicine.symptomSwellingbusinessAnaerobic exercise[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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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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Overexpression of the insulin-like growth factor I receptor in human pheochromocytomas.

2006

In order to determine the role of the IGF-I receptor (IGF-IR) in human pheochromocytomas we have compared the expression of the IGF-IR in normal tissues and in pheochromocytomas with regard to the IGF-IR mRNA levels and ligand binding. By semiquantitative reverse transcription polymerase chain reaction (RT-PCR), the mRNA of the IGF-IR could be detected in all samples of normal adrenomedullary cells (n=13) and pheochromocytomas (n=16). However, pheochromocytomas exhibited 2.8-fold higher mean IGF-IR mRNA levels than normal adrenomedullary cells (2.8±0.5×105 molecules/μg RNA vs 7.8±1.2×105 molecules/μg RNA; P < 0.001). This overexpression of the IGF-IR in pheochromocytomas could be confirm…

AdultMalemedicine.medical_specialtyPheochromocytomaBiologyReceptor IGF Type 1PathogenesisEndocrinologyInternal medicinemedicineHumansRNA MessengerBinding siteReceptorMolecular BiologyMessenger RNARNAMolecular biologyRadioligand AssayReverse transcription polymerase chain reactionDissociation constantGene Expression Regulation NeoplasticEndocrinologyAdrenal MedullaFemaleProtein BindingJournal of molecular endocrinology
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Oesophageal motility disorders in type 1 diabetes mellitus and their relation to cardiovascular autonomic neuropathy.

2006

The relationship between cardiovascular autonomic neuropathy (CVAN) and oesophageal dysfunction in diabetes mellitus has not been well established because reports are contradictory. The aim of this study was to assess oesophageal function and its correlation with CVAN in type 1 diabetic patients without oesophageal symptoms. Forty-six type 1 diabetic patients without oesophageal symptoms (DG) and 34 healthy volunteers (CG) were studied. Both groups underwent CVAN tests and oesophageal manometry and pH-metry. Differences between groups regarding results of cardiovascular autonomic tests and oesophageal studies were statistically analysed. Compared with the CG, the DG group showed insufficien…

AdultMalemedicine.medical_specialtyPhysiologyManometryBlood PressureLogistic regressionGastroenterologyCardiovascular SystemOesophageal motilityDiabetes ComplicationsDiabetic NeuropathiesHeart RateInternal medicineDiabetes mellitusHealthy volunteersmedicineLower oesophageal sphincterHumansEsophageal Motility DisordersType 1 diabetesEndocrine and Autonomic Systemsbusiness.industryGastroenterologyHydrogen-Ion Concentrationmedicine.diseaseSurgeryDiabetes Mellitus Type 1Autonomic Nervous System DiseasesFemaleOesophageal functionbusinessAutonomic neuropathyNeurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society
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Determinants of urinary albumin excretion reduction in essential hypertension: A long-term follow-up study.

2006

The objective of the present study was to assess factors related to long-term changes in urinary albumin excretion (UAE) of nondiabetic microalbuminuric (n = 252) or proteinuric hypertensive individuals (n = 58) in a prospective follow-up.After enrollment, patients were placed on usual care including nonpharmacological treatment and/or treatment with an antihypertensive drug regime to achieve blood pressure135/85 mmHg. Periodic UAE measurements were performed until regression or significant reduction (defined when UAE dropped50% from the initial values, plus reduction of UAE to30 mg/24 h for microalbuminuric patients and300 mg/24 h for proteinuric patients).Among the microalbuminuric patien…

AdultMalemedicine.medical_specialtyPhysiologymedicine.drug_classAdrenergic beta-AntagonistsUrologyRenal functionAngiotensin-Converting Enzyme InhibitorsBlood PressureEssential hypertensionExcretionInternal medicineInternal MedicinemedicineAlbuminuriaHumansAntihypertensive drugbusiness.industryProportional hazards modelHazard ratioMiddle Agedmedicine.diseaseCalcium Channel BlockersConfidence intervalEndocrinologyBlood pressureHypertensionFemaleCardiology and Cardiovascular MedicinebusinessAngiotensin II Type 1 Receptor BlockersFollow-Up StudiesGlomerular Filtration RateJournal of hypertension
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Angiotensin II antagonists - an assessment of their acute toxicity.

2013

In Germany, increasing prescription rates of angiotensin II antagonists resulted in rising enquiries to Poisons Information Centres (PICs) during the last decade. Therefore, we aimed to assess their acute toxicity for deriving triage recommendations.An observational case series with data collected retrospectively from eight PICs in Austria, Germany and Switzerland. Inclusion criteria were monoexposure, defined dose, and documented follow-up.In total, 206 cases of exposures to angiotensin II antagonists were included (candesartan, 94; eprosartan, 3; irbesartan, 20; losartan, 26; olmesartan, 16; telmisartan, 18; and valsartan, 29). The median dose expressed as a multiple of their maximum dail…

AdultMalemedicine.medical_specialtyPoison Control CentersTime FactorsPharmacologyToxicologyIrbesartanInternal medicineGermanymedicineHumansAntihypertensive AgentsRetrospective Studiesbusiness.industryPoisoningEprosartanGeneral MedicineMiddle AgedAngiotensin IILosartanValsartanChild PreschoolMedian bodyFemaleTelmisartanDrug OverdoseHypotensionbusinessOlmesartanAngiotensin II Type 1 Receptor Blockersmedicine.drugClinical toxicology (Philadelphia, Pa.)
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A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia

2013

Objective— In familial hypobetalipoproteinemia, fatty liver is a characteristic feature, and there are several reports of associated cirrhosis and hepatocarcinoma. We investigated a large kindred in which low-density lipoprotein cholesterol, fatty liver, and hepatocarcinoma displayed an autosomal dominant pattern of inheritance. Approach and Results— The proband was a 25-year-old female with low plasma cholesterol and hepatic steatosis. Low plasma levels of total cholesterol and fatty liver were observed in 10 more family members; 1 member was affected by liver cirrhosis, and 4 more subjects died of either hepatocarcinoma or carcinoma on cirrhosis. To identify the causal mutation in this f…

AdultMalemedicine.medical_specialtySettore MED/09 - Medicina InternaApolipoprotein BNonsense mutationBiologyArticlehypobetaliproteinemia type 1Hypobetalipoproteinemiasexome fatty liver hypobetalipoproteinemia familial 2Young Adultsymbols.namesakeInternal medicinemedicineHumansExomeHEPATOCELLULAR CARCINOMAExomeExome sequencingApolipoproteins Bfatty liverFamily HealthGeneticsSanger sequencingLiver NeoplasmsFatty liverMiddle AgedHEPATOCELLULAR CARCINOMA; exome; fatty liver; hypobetaliproteinemia type 1medicine.diseasePedigreeFatty LiverHypocholesterolemiaCholesterolEndocrinologyCodon Nonsensebiology.proteinsymbolsFemaleCardiology and Cardiovascular MedicineLiver cancerexomeArteriosclerosis, Thrombosis, and Vascular Biology
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