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showing 10 items of 10618 documents

Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia.

2006

Many women with 21-hydroxylase (21-OH)-deficient nonclassic adrenal hyperplasia (NCAH) carry at least one allele containing a severe mutation of CYP21, and as such are at risk for giving birth to an infant having classic adrenal hyperplasia (CAH). Infants with NCAH typically are asymptomatic at birth, in contrast to those with CAH, but they do develop symptoms of hyperandrogenism later in childhood or as adults. This international multicenter study, conducted both retrospectively and prospectively, was an attempt to determine how often mothers with 21-OH-deficient NCAH bear infants having CAH or NCAH. The 101 women entering the study had a total of 203 pregnancies that could be evaluated. F…

AdultMalePediatricsmedicine.medical_specialtyReferralGenotypeOffspringEndocrinology Diabetes and MetabolismClinical BiochemistryContext (language use)AsymptomaticBiochemistryEndocrinologyPregnancyInternal medicinePrevalenceMedicineHumansProspective StudiesProspective cohort studyAdrenal HyperplasiaRetrospective StudiesPregnancybiologyAdrenal Hyperplasia Congenitalbusiness.industryIncidence (epidemiology)HyperandrogenismBiochemistry (medical)21-HydroxylaseInfant NewbornObstetrics and GynecologyInfantRetrospective cohort studyGeneral MedicineHyperplasiamedicine.diseaseEndocrinologyGlucocorticoid therapyChild Preschoolbiology.proteinFemaleSteroid 21-Hydroxylasemedicine.symptomLive birthbusinessThe Journal of clinical endocrinology and metabolism
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Latvian registry of familial hypercholesterolemia: The first report of three-year results.

2018

Abstract Background and aims Familial hypercholesterolemia (FH) was rarely diagnosed in Latvia before 2015, when the Latvian Registry of FH (LRFH) was established. Here, we report the first experience of the LRFH over three years (2015–2017). Methods The LRFH is an ongoing nationwide, dynamic, long-term prospective cohort. The diagnosis of FH was assessed using the Dutch Lipid Clinic Network (DLCN) criteria. Cascade screening of first-degree relatives using age- and sex-specific percentiles of low-density lipoprotein cholesterol (LDL-C) was performed in relatives of patients with definite and probable FH. Results Among the 416 individuals included in the LRFH, 181 patients were diagnosed wi…

AdultMalePediatricsmedicine.medical_specialtyStatinHeredityTime Factorsmedicine.drug_classDown-RegulationCascade screeningFamilial hypercholesterolemia030204 cardiovascular system & hematologyRisk AssessmentHyperlipoproteinemia Type II03 medical and health sciences0302 clinical medicineRisk FactorsmedicineHumansGenetic Predisposition to Disease030212 general & internal medicineProspective StudiesRegistriesProspective cohort studyLipid clinicLipoprotein cholesterolAgedbusiness.industryAnticholesteremic AgentsMean ageCholesterol LDLMiddle Agedmedicine.diseaseLatviaCoronary heart diseasePedigreePhenotypeTreatment OutcomeCardiovascular DiseasesDrug Therapy CombinationFemaleCardiology and Cardiovascular MedicinebusinessBiomarkersAtherosclerosis
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Clinical inertia in diagnosis and treatment of hypertension in primary care: Quantification and associated factors

2009

The objective of the present study was to quantify both diagnostic and therapeutic inertia in hypertension and to identify patient-associated variables.Cross-sectional, multicenter study of 35 424 subjects carried out in 428 health centers and/or primary care clinics in the Valencian Community, Spain, in a preventive activity conducted during 2003 and 2004. Diagnostic inertia was identified when a patient without known hypertension had high blood pressure (BP) but was labeled "normal" by the medical staff, and therapeutic inertia when treatment was not modified for a hypertensive patient on the presence of high BP values. Bivariate and multivariate statistical analyses were performed to ide…

AdultMalePediatricsmedicine.medical_specialtySystoleCross-sectional studyDiastoleMEDLINEBlood PressureCoronary DiseaseBody Mass IndexDiastoleDiabetes mellitusInternal MedicinemedicineHumansSystoleAgedTherapeutic inertiaPrimary Health Carebusiness.industryGeneral MedicineMiddle Agedmedicine.diseaseStrokeCross-Sectional StudiesBlood pressureDiabetes Mellitus Type 2SpainHypertensionFemaleCardiology and Cardiovascular MedicinebusinessBody mass indexBlood Pressure
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Periodontal microcirculation in diabetics: An in vivo non-invasive analysis by means of videocapillaroscopy

2012

Summary Background Diabetes mellitus is today considered a society-wide disease of a chronic/degenerative nature. Among the secondary effects of diabetes, the one that interests the dental surgeon most is diabetic parodontopathy. The aim of this study was to underline and objectify microcirculatory variations at a periodontal mucous level in type 2 diabetics. Material/Methods The study enrolled 80 subjects: 40 subjects with a diagnosis of diabetes mellitus type II (18 males and 22 females, between 44 and 85 years of age); and 40 healthy subjects (17 males and 23 females, between 44 and 78 years of age). All the subjects, both diabetic and healthy, were submitted to a videocapillaroscopic ex…

AdultMalePeriodontiummedicine.medical_specialtyperiodontal diseaseDentistryDiseaseMicrocirculationSettore MED/28 - Malattie OdontostomatologicheIn vivoClinical ResearchInternal medicineDiabetes mellitusmedicinemedia_common.cataloged_instanceHumansDental surgeonmedia_commonAgedAged 80 and overbusiness.industryMicrocirculationNon invasiveGeneral MedicinePeriodontiumMiddle Agedmedicine.diseasemicroscopic angioscopyDiabetes Mellitus Type 2mouth mucosaperiodontal microcirculation diabetes videocapillaroscopyFemalebusinessMedical Science Monitor : International Medical Journal of Experimental and Clinical Research
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Interest of genotyping and phenotyping of drug-metabolizing enzymes for the interpretation of biological monitoring of exposure to styrene

2002

In the field of occupational and/or environmental toxicology, the measurement of specific metabolites in urine may serve to assess exposure to the parent compounds (biological monitoring of exposure). Styrene is one of the chemicals for which biological monitoring programs have been validated and implemented in environmental and occupational medicine. However, inter-individual differences in the urinary excretion exist both for the main end-products (mandelic acid and phenylglyoxylic acid) and for its specific mercapturic acids (phenylhydroxyethylmercapturic acids, PHEMA). This limits to a certain extent the use of these metabolites for an accurate assessment of styrene exposure. In a group…

AdultMalePhenylglyoxylic acidGenotypeMetaboliteUrinary systemPopulation10050 Institute of Pharmacology and Toxicology610 Medicine & healthUrinePharmacologyBiologyPolymerase Chain Reaction3000 General Pharmacology Toxicology and PharmaceuticsExcretionchemistry.chemical_compound1311 GeneticsGeneticsHumansLymphocytesGeneral Pharmacology Toxicology and PharmaceuticseducationGenotypingStyreneGlutathione TransferaseEpoxide Hydrolaseseducation.field_of_studyPolymorphism GeneticGlyoxylatesCytochrome P-450 CYP2E1Environmental ExposureCYP2E1AcetylcysteineIsoenzymesPhenotypeGlutathione S-Transferase piBiochemistrychemistry570 Life sciences; biologyMandelic AcidsBiomarkersPolymorphism Restriction Fragment LengthEnvironmental Monitoring
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The cumulative effect of positive and negative feedback on emotional experience.

2021

The cumulative effect of positive or negative feedback on subsequent emotional experiences remains unclear. Elucidating this effect could help individuals to better understand and accept the change in emotional experience, irrespective of when they or others receive consecutive positive or negative feedback. This study aimed to examine this effect on 37 participants using self-reported pleasantness and event-related potential data as indicators. After completing each trial, the participants received predetermined false feedback; they were then assessed on a nine-point pleasantness scale. There were 12 false feedback conditions categorized into three valence types. The positive type consiste…

AdultMalePleasuremedicine.medical_specialtyCognitive NeuroscienceFeedback PsychologicalEmotionsExperimental and Cognitive PsychologyAudiologyNegative typeYoung AdultDevelopmental NeuroscienceNegative feedbackmedicineHumansValence (psychology)Evoked PotentialsBiological PsychiatryCumulative effectPositive feedbackEndocrine and Autonomic SystemsFalse feedbackGeneral NeuroscienceNegativity effectElectroencephalographyNeuropsychology and Physiological PsychologyNeurologyPositive typeFemalePsychologypsychological phenomena and processesPsychophysiologyREFERENCES
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Polymorphism of C'3 in German, Bulgarian, Iranian and Angola population

1973

Using agarose gel electrophoresis, C'3 was typed in 4 populations. The gene frequencies of the common allele C'3S in these 4 populations were Germans (0.8071), Bulgarians (0.8149), Iranians (0.7920) and Angola (0.9532). The results are discussed.

AdultMalePopulationBeta-GlobulinsIranBiologyGermanGene FrequencyPolymorphism (computer science)GeneticsHumansBulgarianAlleleBulgariaeducationGeneAllelesGenetics (clinical)Geneticseducation.field_of_studyPolymorphism GeneticGermany WestBlood Protein Electrophoresislanguage.human_languageHuman geneticsPhenotypeAngolaAgarose gel electrophoresislanguageFemaleHuman Genetics
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HLA Class I and Class II Polymorphism in Three Sicilian Populations

2007

Two human leukocyte antigen (HLA) class I loci (HLA-A and HLA-B) and one class II locus (HLA-DR) were typed at the DNA level in the Sicilian population. Study participants were of Sicilian origin (183 for class I loci and 260 for class II loci) and live in three towns, chosen on the basis of geographic position and different historical events. These towns are Sciacca (southwest Sicily, located at sea level, conquered by Arabs in a.d. 814), Piana degli Albanesi (northwest Sicily, 720 m above sea level, has maintained religious, cultural, and linguistic peculiarities traced to Albanian settlement in 1488), and Troina (northeast Sicily, 1,120 m above sea level, known as the first settlement of…

AdultMalePopulationLocus (genetics)Human leukocyte antigenLinkage DisequilibriumGene FrequencyGeneticsHumansAlleleeducationSicilyAllele frequencyAllelesGenetics (clinical)Ecology Evolution Behavior and Systematicseducation.field_of_studyPolymorphism GeneticHLA-A AntigensGenetic VariationHLA-DR Antigenslanguage.human_languageGenetics PopulationHaplotypesHLA-B AntigensChild PreschoolGenetic structurelanguageEthnologyFemalePhoenicianDNA typing haplotype frequency HLA polymorphism sicilian populationSicilianHLA-DRB1 ChainsDemographyHuman Biology
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Associations between leprosy and serum protein groups

1970

Serum protein group typings were done on a sample of n=173 adult healthy Negroes from the Macua tribe in Mozambique and on n=129 leprous individuals from the same tribe. Unfortunately, the type of leprosy is not known. Whilst between leprosy and haptoglobins, transferrins and Pi proteins no associations could be observed, statistically significant associations between leprosy and ceruloplasmin resp. β2 I were found. It is pointed out that these associations should be confirmed by further research on other populations and with respect to type and process of leprosy, until biological and population genetical interpretations will be possible.

AdultMalePopulationSerum proteinBlack PeopleTribe (biology)LeprosyGeneticsmedicineHumansAlleleMetabolic diseaseeducationAllelesMozambiqueGenetics (clinical)Glycoproteinseducation.field_of_studyHaptoglobinsbiologyHaptoglobinTransferrinCeruloplasminfood and beveragesmedicine.diseaseBlack or African AmericanGenetics PopulationPhenotypeImmunologyBlood Group Antigensbiology.proteinFemaleLeprosyTrypsin InhibitorsCeruloplasminHuman Genetics
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Accumulation of dysfunctional effector CD8+T cells in the liver of patients with chronic HCV infection

2005

Background/Aims Hepatitis C virus (HCV) causes a chronic infection that can lead to fibrosis and carcinoma. Immune responses mediated by cytotoxic T lymphocytes (CTLs) could be involved in viral clearance or persistence, and therefore in determining the course of the disease. Methods Intrahepatic and peripheral blood CD8+T cells were obtained from 32 HCV-chronically infected patients and analysed by flow-cytometry for surface markers of differentiation, IFNγ and TNFα production, degranulation capacity and perforin content, after CD3 triggering. Results were compared with those obtained from 13 patients with a non-viral liver disease. Results Intrahepatic CD8+T cells of HCV-infected patients…

AdultMalePore Forming Cytotoxic ProteinsCD3ApoptosisCD8-Positive T-LymphocytesInterferon-gammaLiver diseaseImmune systemHumansMedicineCytotoxic T cellAgedMembrane GlycoproteinsHepatologybiologyPerforinTumor Necrosis Factor-alphabusiness.industryDegranulationHepatitis C ChronicMiddle Agedmedicine.diseaseAcquired immune systemPhenotypeLiverPerforinImmunologybiology.proteinFemalebusinessCD8Follow-Up StudiesT-Lymphocytes CytotoxicJournal of Hepatology
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