Search results for "Transferase"

showing 10 items of 1030 documents

Transient CD15-positive endothelial phenotype in the human placenta correlates with physiological and pathological fetoplacental immaturity

2013

Abstract Objective Placental growth and villous maturation are critical parameters of placental function at the end of pregnancy. A failure in these processes leads to the development of placental dysfunction, as well as fetal and neonatal mortality and morbidity. The aim of the study was to determine the relevant diagnostic markers associated with pathological placental development. Study design Forty tissue samples from normal placentas of different gestational age and 68 pathological term placentas with defective villous maturation (GDM, idiopathic IUFD, preeclamsia, HELLP syndrome) comprised the comparative immunohistochemical study (CD15, CD45 and CD34). Positive immunohistochemical re…

AdultHELLP SyndromePathologymedicine.medical_specialtyStromal cellEndotheliumHELLP syndromePlacentaCD34Lewis X AntigenAntigens CD34Gestational AgePre-EclampsiaPregnancymedicineHumansPathologicalPregnancyFetusFetal Growth Retardationbusiness.industryEndothelial CellsObstetrics and GynecologyFucosyltransferasesmedicine.diseaseImmunohistochemistryPlacentationDiabetes Gestationalmedicine.anatomical_structureReproductive MedicineCase-Control Studiesembryonic structuresLeukocyte Common AntigensImmunohistochemistryFemalebusinessEuropean Journal of Obstetrics & Gynecology and Reproductive Biology
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Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

2000

Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FR…

AdultHeterozygotecongenital hereditary and neonatal diseases and abnormalitiesAtaxiaGenotypeGenetic LinkageDNA Mutational AnalysisGenes RecessiveCompound heterozygosityLoss of heterozygosityTrinucleotide RepeatsIron-Binding ProteinsGenotypeGeneticsmedicineHumansPoint MutationAge of OnsetAlleleChildAllelesPolymorphism Single-Stranded ConformationalGenetics (clinical)Family HealthGeneticsbiologynutritional and metabolic diseasesmedicine.diseasePedigreePhosphotransferases (Alcohol Group Acceptor)PhenotypeFriedreich AtaxiaChild PreschoolFrataxinbiology.proteinSpinocerebellar ataxiamedicine.symptomTrinucleotide Repeat ExpansionTrinucleotide repeat expansionMicrosatellite Repeats
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Incidence of lineage promiscuity in acute myeloblastic leukemia: Diagnostic implications of immunoglobulin and T-cell receptor gene rearrangement ana…

1988

Abstract Sixty-nine blood or bone marrow samples from both children and adults with acute myeloblastic leukemia (AML) were investigated to elucidate the frequency of immunoglobulin (IG) and T-cell receptor (TCR)-gene rearrangements. Non-germline configuration for the IG heavy chain (h) gene was detected in the specimens of nine patients of various subtypes according to the French-American-British classification (FAB), including FAB M1, M2, M4 and M5. Rearrangement of the IG kappa chain (k) gene was present in one of these cases which simultaneously revealed a rearranged TCR-beta (b) chain gene. In another two AML samples we found TCR-b gene rearrangements, in one case in combination with an…

AdultImmunoglobulin geneCancer ResearchAcute myeloblastic leukemiaCD19medicineHumansGene Rearrangement beta-Chain T-Cell Antigen ReceptorChildGenes ImmunoglobulinbiologyAntibodies MonoclonalCell DifferentiationHematologyGene rearrangementmedicine.diseaseMolecular biologyLeukemia Myeloid AcuteLeukemiaPhenotypeOncologyTerminal deoxynucleotidyl transferaseT-Cell Receptor Genebiology.proteinAntibodyImmunoglobulin Heavy ChainsLeukemia Research
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Serum visfatin levels in acromegaly: Correlation with disease activity and metabolic alterations

2015

Objective: The studies that have extensively evaluated the relation between adipokines and metabolic parameters in acromegaly treatment are quite discordant. We aimed to evaluate and correlate a set of selected adipokines, known to have a metabolic role, with the disease activity, metabolic status and treatment modalities. Design: Data of 56 consecutive acromegalic patients (31 M and 25 F; aged 54 ± 12 years), admitted to the section of Endocrinology of the University of Palermo during the years 2005-2014, including 16 newly diagnosed untreated (ND), 21 during therapy with somatostatin analogues (SA), 12 with pegvisomant (PE) and 7 after surgical treatment (SU), grouped into uncontrolled (g…

AdultLeptinMalemedicine.medical_specialtyEndocrinology Diabetes and MetabolismAdipokineFatty Acids NonesterifiedSettore MED/13 - EndocrinologiaInsulin resistanceEndocrinologyAcromegaly; Adipokines; Growth hormone; Endocrinology; Endocrinology Diabetes and MetabolismAdipokinesInternal medicineAdipokineAcromegalyMedicineHumansNicotinamide PhosphoribosyltransferaseGrowth hormoneTriglyceridesAdiposityAgedLeptin receptorAdiponectinbusiness.industryLeptinCholesterol HDLMiddle Agedmedicine.diseaseEndocrinologyCross-Sectional StudiesPegvisomantAcromegalyCytokinesResistinFemaleInsulin ResistancebusinessBiomarkersmedicine.drug
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Circulating levels of adipose products and differences in fat distribution in the ovulatory and anovulatory phenotypes of polycystic ovary syndrome.

2009

Central fat distribution is increased in anovulatory women with polycystic ovary syndrome (PCOS) compared with ovulatory PCOS and matched controls. Among secreted adipocytokines, this is reflected mainly in lower levels of adiponectin.

AdultLeptinOvulationmedicine.medical_specialtySettore MED/09 - Medicina Internaendocrine system diseasesmedia_common.quotation_subjectAdipokineAdipose tissueBiologyAnovulationInsulin resistanceAdipokinesInternal medicinemedicineBody Fat DistributionHumansNicotinamide PhosphoribosyltransferaseOvulationmedia_commonAdiponectinLeptinnutritional and metabolic diseasesObstetrics and Gynecologymedicine.diseasePolycystic ovaryfat distribution; polycystic ovary syndromeLipidsfemale genital diseases and pregnancy complicationsEndocrinologyC-Reactive ProteinPhenotypeReproductive Medicinefat distributionCase-Control StudiesFemaleAdiponectinInsulin ResistanceWaist CircumferenceRetinol-Binding Proteins PlasmaAnovulationPolycystic Ovary SyndromeFertility and sterility
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Suboptimal performance of APRI and FIB-4 in ruling out significant fibrosis and confirming cirrhosis in HIV/HCV co-infected and HCV mono-infected pat…

2018

Purpose: We aimed to assess the diagnostic reliability of two indirect biomarkers, APRI and FIB-4, for the staging of liver fibrosis using transient elastography (TE) as reference standard, among HIV/HCV co-infected and HCV mono-infected patients. Methods: This is an observational, retrospective study on subjects who had access to the RESIST HCV from October 2013 to December 2016, a regional network encompassing 22 hospitals and academic centers throughout Sicily. Sensitivity, specificity and diagnostic accuracy of indirect biomarkers for liver stiffness measurement (LSM) < 9.5 kPa (significant fibrosis) and LSM ≥ 12.5 kPa (cirrhosis) were determined by receiver operator characteristics …

AdultLiver CirrhosisMale0301 basic medicineMicrobiology (medical)medicine.medical_specialtyTransient elastographyCirrhosis030106 microbiologyHuman immunodeficiency virus (HIV)HIV InfectionsHepacivirusmedicine.disease_causeGastroenterology03 medical and health sciences0302 clinical medicineLiver Function TestsLiver stiffnessInternal medicineNoninvasive biomarkermedicineHumansAspartate Aminotransferases030212 general & internal medicineSicilyRetrospective StudiesAPRIReceiver operating characteristicCoinfectionbusiness.industryReproducibility of ResultsHIVvirus diseasesRetrospective cohort studyGeneral MedicineMiddle Agedmedicine.diseaseHepatitis Cdigestive system diseasesInfectious DiseasesHCVFIB-4Elasticity Imaging TechniquesFemaleUltrasonographyTransient elastographybusinessBiomarkersSignificant fibrosisInfection
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Prospective comparison of Fibroscan, King's score and liver biopsy for the assessment of cirrhosis in chronic hepatitis C infection

2010

Historically, liver biopsy (LB) was the sole method to evaluate the severity of hepatic fibrosis in patients with chronic hepatitis C infection. However, LB is expensive and associated with a risk of severe complications. Therefore, noninvasive tests have been developed to assess the severity of liver fibrosis. The accuracy of Fibroscan (FS) and King's score (KS) was evaluated individually and in combination using liver histology as the reference standard. One hundred and eighty-seven patients were identified who had undergone a biopsy with a diagnosis of chronic hepatitis C virus (HCV) mono-infection (HCV RNA-positive by RT-PCR), attending King's College Hospital (n = 88) or the Royal Free…

AdultLiver CirrhosisMaleKing's scoreHepacivirusPredictive Value of TestsVirologyfibrosis; hepatitis C; King's score; transient elastography; Adult; Alanine Transaminase; Alkaline Phosphatase; Area Under Curve; Aspartate Aminotransferases; Bilirubin; Elasticity Imaging Techniques; Female; Hepacivirus; Hepatitis C Chronic; Histocytochemistry; Humans; Liver Cirrhosis; Male; Middle Aged; Platelet Count; Predictive Value of Tests; Prospective Studies; ROC Curve; gamma-Glutamyltransferase; Hepatology; Infectious Diseases; Virology; Medicine (all)Humansfibrosis hepatitis C King s score transient elastographyAspartate AminotransferasesProspective StudiesChronicHepatologyHistocytochemistryPlatelet CountMedicine (all)fibrosisAlanine TransaminaseBilirubingamma-GlutamyltransferaseHepatitis C ChronicMiddle AgedAlkaline Phosphatasetransient elastographyHepatitis CInfectious DiseasesROC CurveArea Under CurveElasticity Imaging TechniquesFemale
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Anti-tissue transglutaminase antibodies in patients with abnormal liver tests: is it always coeliac disease?

2005

Coeliac disease (CD) is found in 5-10% of patients with chronically abnormal liver tests and no obvious cause of liver disease. In this population the efficacy of screening for CD by anti-tissue transglutaminase (anti-tTG) may be impaired by the high rate of positive anti-tTG found in chronic liver disease.To evaluate the prevalence of coeliac disease and the role of anti-tTG in patients with non-viral, non-autoimmune chronic and no obvious cause of liver damage.Out of 2,512 consecutive patients with abnormal liver tests, 168 (118 men, 50 women; mean age 40.7 +/- 12.6 years) were defined, on the basis of clinical data and liver biopsy, as NAFLD or cryptogenic chronic hepatitis. All were tes…

AdultLiver CirrhosisMalePathologymedicine.medical_specialtyAdolescentTissue transglutaminaseDuodenumBiopsyGastroenterologyCoeliac diseaseGTP-Binding ProteinsInternal medicineBiopsymedicineHumansMass ScreeningIn patientProtein Glutamine gamma Glutamyltransferase 2Aspartate AminotransferasesDuodenoscopyMass screeningAgedAutoantibodiesHepatitis ChronicHepatitisTransglutaminasesHepatologybiologymedicine.diagnostic_testbusiness.industryLiver DiseasesGastroenterologynutritional and metabolic diseasesAlanine TransaminaseMiddle Agedmedicine.diseasedigestive system diseasesImmunoglobulin AFatty LiverCeliac DiseaseLiverImmunoglobulin Gbiology.proteinFemaleAbnormal liverAntibodybusinessThe American journal of gastroenterology
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Circulating, intercellular adhesion molecule-1 in patients with hepatocellular carcinoma

1997

Intercellular adhesion molecule-1 (ICAM-1) is thought to play an important role in cellular immunological reactions. Expression can be induced by inflammatory cytokines in a wide variety of cells, including hepatocytes.To compare the behaviour of ICAM-1 in liver diseases.We assayed serum ICAM-1 (sICAM-1) in patients with hepatocellular carcinoma-associated liver cirrhosis, and compared them with a group of cirrhotic patients and controls. sICAM-1 values were also correlated with some biochemical parameters of liver function. Moreover, immunohistochemical localization of ICAM-1 was performed on liver tissue sections of patients with hepatocellular carcinoma, liver cirrhosis and a sample of n…

AdultLiver CirrhosisMalePathologymedicine.medical_specialtyCarcinoma HepatocellularCirrhosisIntercellular Adhesion Molecule-1Chronic liver diseaseLiver diseasemedicineCarcinomaHumansEndotheliumAgedHepatologymedicine.diagnostic_testbusiness.industryLiver NeoplasmsGastroenterologyAlanine TransaminaseBilirubingamma-GlutamyltransferaseMiddle AgedAlkaline PhosphataseIntercellular Adhesion Molecule-1medicine.diseaseImmunohistochemistryHepatocellular carcinomaFemalealpha-FetoproteinsLiver functionLiver function testsbusiness
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Insulin resistance is associated with steatosis in nondiabetic patients with genotype 1 chronic hepatitis C.

2005

Conflicting data exist regarding the relationship between hepatitis C virus genotype 1 and hepatic steatosis as well as the latter's role in the progression of fibrosis and treatment response. We assessed factors associated with hepatic steatosis in genotype 1 chronic hepatitis C and the impact of hepatic fat on fibrosis development and interferon responsiveness. Two hundred ninety-one non-diabetic patients with genotype 1 chronic hepatitis C were examined for the presence of steatosis and its correlation with clinical, virological, and biochemical data, including insulin resistance (IR), evaluated by the homeostasis model assessment (HOMA) score. Steatosis was graded as mild (1%-20% of hep…

AdultLiver CirrhosisMalemedicine.medical_specialtyAdolescentGenotypeHepacivirusGastroenterologyBody Mass IndexInsulin resistanceSex FactorsFibrosisRisk FactorsInternal medicinemedicineHumansRisk factorAgedHepatologybusiness.industryHCV steatosi insulinoresistenzaHepatitis COdds ratiogamma-GlutamyltransferaseHepatitis C ChronicMiddle Agedmedicine.diseaseFatty LiverEndocrinologyMultivariate AnalysisFemaleSteatosisMetabolic syndromeInsulin ResistancebusinessBody mass indexHepatology (Baltimore, Md.)
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