Search results for "carrier"

showing 10 items of 1256 documents

Candidal carriage in the oral cavity of human immunodeficiency virus–infected subjects

2002

Abstract Objectives. We sought to assess asymptomatic oral carriage of Candida species and relative density in human immunodeficiency virus-infected (HIV+) subjects, as well as to determine whether yeast carriage is associated with CD4+cell count, HIV-1 RNA quantity, gender, route of HIV transmission, antiretroviral therapy, or smoking. Study Design. A cross-sectional analysis of oral rinses from HIV+ and healthy subjects was undertaken. Oral candidal carriage and relative species were investigated in 42 HIV+ and 41 healthy individuals, all of whom were seen at the Palermo University Department of Oral Sciences, Italy. Data were managed and analyzed by means of the computer software package…

AdultMalemedicine.medical_specialtyColony Count MicrobialAsymptomaticStatistics NonparametricAcquired immunodeficiency syndrome (AIDS)Candidiasis OralInternal medicineHumansMedicineMycological Typing TechniquesSidaCandida albicansGeneral DentistryMycosisCandidaMouthChi-Square DistributionAIDS-Related Opportunistic Infectionsbiologybusiness.industryMiddle AgedViral Loadbiology.organism_classificationmedicine.diseaseCD4 Lymphocyte CountCross-Sectional StudiesCarriageOtorhinolaryngologyOral microbiologyCarrier StateImmunologyHIV-1FemaleSurgeryOral Surgerymedicine.symptombusinessViral loadOral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology
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Hepatitis C virus RNA profiles in chronically infected individuals: do they relate to disease activity?

1999

Fluctuations of hepatitis C virus (HCV)-RNA serum levels were monitored in a multicenter study in 76 chronic HCV carriers who had been followed longitudinally without receiving antiviral therapy to assess their relation with the course of liver disease activity. Forty-four patients had normal transaminases over more than 2 years, while 32 additional patients had fluctuating levels. Viral load was measured in serial serum samples prospectively collected for 10 to 12 months in 54 patients and in sera stored yearly up to 8 years in an additional 22 patients. In patients tested monthly, a lesser extent of fluctuations was detected in cases with constantly normal transaminases as compared with t…

AdultMalemedicine.medical_specialtyGenotypeHepatitis C virusHepacivirusViremiaHepacivirusmedicine.disease_causeGastroenterologyAsymptomaticLiver diseaseFlaviviridaeInternal medicinemedicineHumansLongitudinal StudiesViremiaAgedHepatologybiologybusiness.industryAlanine TransaminaseHepatitis C ChronicMiddle Agedmedicine.diseasebiology.organism_classificationLiverImmunologyCarrier StateRNA ViralFemaleViral diseasemedicine.symptombusinessViral loadHepatology (Baltimore, Md.)
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Association between M467T and 114 C--A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.

2000

Cystinuria is an inherited metabolic disease characterized by an abnormal urinary excretion of cystine and dibasic amino acids. Formation of renal calculi, recurrent infections and renal failure are the main complications of this disease. The SLC3A1 gene, which codes for a dibasic amino acid transporter protein, is involved in the pathogenesis of cystinuria. We investigated the possible association between molecular variants (M467T, E483X, T216 M and 114 C--A) within the SLC3A1 gene and some phenotypical traits in a Spanish area. The study population consisted of 45 cystinuria patients, 42 cystinuria relatives and 81 healthy control subjects. Only the M467T mutation was found in chromosomes…

AdultMalemedicine.medical_specialtyGenotypeUrinary systemCystineBiologychemistry.chemical_compoundKidney CalculiSex FactorsMale Urogenital DiseasesInternal medicineGenotypeGeneticsmedicineHumansAlleleAmino AcidsChildAllele frequencyGenetics (clinical)AllelesCystinuriaMembrane GlycoproteinsPolymorphism GeneticMediterranean RegionAge FactorsCystinuriamedicine.diseaseFemale Urogenital DiseasesEndocrinologyPhenotypechemistrySpainAminoaciduriaMutationPopulation studyAmino Acid Transport Systems BasicRegression AnalysisFemaleCarrier ProteinsHuman genetics
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Role of a 48-week pegylated interferon therapy in hepatitis B e antigen positive HIV-co-infected patients on cART including tenofovir: EMVIPEG study.

2014

In hepatitis B e antigen (HBeAg) positive-HIV co-infected patients treated with combined antiretroviral therapy (cART), including tenofovir disoproxil fumarate (TDF), the rate of HBe seroconversion remains low. Whether adding pegylated interferon alfa (PegIFN) could increase the likelihood of HBeAg loss and HBe seroconversion has not been assessed.A 48-week PegIFN therapy was added to HBeAg positive-HIV co-infected patients on TDF and emtricitabine, or lamivudine for at least 6 months. The primary endpoint was HBV sustained response: HBe seroconversion with undetectable HBV DNA levels 24 weeks after completing PegIFN therapy (W72).Fifty-one patients (49 men, median age 46 years, range: 32-6…

AdultMalemedicine.medical_specialtyHBsAgOrganophosphonatesHIV Infectionsmedicine.disease_causeEmtricitabineGastroenterologyAntiviral AgentsDeoxycytidinePolyethylene GlycolsHepatitis B ChronicPegylated interferonInternal medicineAntiretroviral Therapy Highly ActivemedicineEmtricitabineHumansHepatitis B e AntigensSeroconversionTenofovirHepatitis B virusDrug CarriersHepatologybusiness.industryCoinfectionAdeninevirus diseasesLamivudineHIVInterferon-alphaMiddle AgedViral Loaddigestive system diseasesRecombinant ProteinsCD4 Lymphocyte CountTreatment OutcomeHBeAgLamivudineImmunologyFemalebusinessViral loadmedicine.drugJournal of hepatology
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Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Diseas…

2004

Abstract Background. Three variants of the NOD 2 /CARD 15 gene are strongly associated with susceptibility to Crohn’s disease; however, striking racial and geographic differences of their frequency have been described. Aims. We have compared the allele frequencies of familial cases of Crohn’s disease recruited in a multicentre study across Italy, in order to disclose possible geographic heterogeneity. Moreover, we also compared the allele frequencies in sporadic cases of Crohn’s disease and healthy controls from Southern Italy with those reported in other two populations from Central and Northern Italy. Subjects and Methods. A total of 731 subjects were genotyped for the polymorphism of thr…

AdultMalemedicine.medical_specialtyPathologyGenotypeNod2 Signaling Adaptor ProteinDiseaseInflammatory bowel diseaseGastroenterologyInflammatory bowel diseaseNOD2Frameshift mutationGeneticCrohn DiseaseGene FrequencyPolymorphism (computer science)NOD2Internal medicineMedicineHumansGenetic Predisposition to DiseaseCARD15Frameshift MutationAllele frequencyAgedCrohn's diseasePolymorphism GeneticHepatologybusiness.industrySignificant differenceGastroenterologyIntracellular Signaling Peptides and ProteinsMiddle Agedmedicine.diseaseCrohn's diseaseItalyFemalebusinessCarrier Proteins
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An evaluation of transient elastography in the discrimination of HBeAg-negative disease from inactive hepatitis B carriers

2009

Summary.  Liver biopsy is frequently required in HBeAg-negative disease to determine the stage of fibrosis. It can be difficult to distinguish cohorts with undetectable HBeAg who may have varying degrees of fibrosis due to different stages of disease. We have assessed the utility of transient elastography (TE) to evaluate differences in HBeAg-negative patients. A total of 220 HBsAg-positive individuals were studied: 125 (group 1) had an inactive HBsAg carrier state and 95 (group 2) were HBeAg-negative, anti-HBe-positive patients with persistently or intermittent elevation of alanine aminotransferase (ALT) and/or HBV DNA >105 copies/mL. Mean stiffness was 4.83 ± 1.2 kPa in group 1 vs 8.53 ± …

AdultMalemedicine.medical_specialtyPathologyHepatitis B virusBiopsymedicine.disease_causeGastroenterologyDiagnosis DifferentialYoung Adultfibroscan hepatitis B hepatitis B virus transient elastography type B hepatitis HBeAgFibrosisVirologyInternal medicineBiopsymedicineHumansHepatitis B e AntigensHepatitis B AntibodiesAgedHepatitis B virusHepatitis B Surface AntigensHepatologymedicine.diagnostic_testbusiness.industryvirus diseasesAlanine TransaminaseHepatitis BMiddle Agedmedicine.diseaseHepatitis Bdigestive system diseasesInfectious DiseasesCross-Sectional StudiesFibroscan; hepatitis B virus; transient elastography; type B hepatitis HBeAgHBeAgLiverLiver biopsyCarrier StateElasticity Imaging TechniquesFemalebusinessTransient elastographyViral hepatitis
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MRS SHOWS ABNORMALITIES BEFORE SYMPTOMS IN FAMILIAL ALZHEIMER DISEASE

2006

Background: Pathologic change in Alzheimer disease (AD) begins some years before symptoms. MRS has the potential to detect metabolic abnormalities reflecting this early pathologic change. Presenilin 1 (PS1) and amyloid precursor protein (APP) mutation carriers have a nearly 100% risk of developing AD and may be studied prior to symptom onset. Methods: Short echo time proton MR spectra were acquired from a midline posterior cingulate voxel in presymptomatic carriers of PS1 or APP mutations (“presymptomatic mutation carriers” [PMCs]; n = 7) and age- and sex-matched control subjects (n = 6). Ratios of N-acetyl aspartate (NAA), myo-inositol (MI), and choline-containing compounds (Cho) to creati…

AdultMalemedicine.medical_specialtyPathologyMagnetic Resonance SpectroscopyAlzheimer disease brain metabolism nuclear magnetic resonance spectroscopyAdolescentNeuropsychological TestsCreatineGastroenterologyPresenilinCentral nervous system diseasechemistry.chemical_compoundDegenerative diseaseAlzheimer DiseaseReference ValuesInternal medicinemental disordersmedicineHumansFamilySymptom onsetAge of OnsetChildSettore M-PSI/02 - Psicobiologia E Psicologia FisiologicaBrainInfantMiddle Agedmedicine.diseaseControl subjectsnervous system diseasesnervous systemchemistryChild PreschoolCarrier StateFemaleNeurology (clinical)Alzheimer's diseaseGeometric meanPsychology
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Increased prevalence of obesity in narcoleptic patients and relatives

2001

Increased Body Mass Indices (BMIs), increased prevalences of non insulin-dependent diabetes and sleep apnoe syndrome have been reported to be associated with narcolepsy. Our objective was to explore and possibly confirm the association of narcolepsy and increased BMI. In addition, we addressed the question whether increased BMIs also occur in relatives of narcoleptic patients. Together with narcolepsy-related clinical parameters we measured body weight and height of 132 narcoleptic patients who agreed to participate in our narcolepsy research program. In addition, 52 first degree relatives of 22 index patients, mostly from multiplex families, were included in the study. Data were compared t…

AdultMalemedicine.medical_specialtyPediatricseducationPopulationBody weightBody Mass IndexDiabetes mellitusmedicineHumansPharmacology (medical)ObesityFirst-degree relativesPsychiatryeducationBiological PsychiatryNarcolepsyPsychiatric Status Rating ScalesOrexinseducation.field_of_studybusiness.industryNeuropeptidesIntracellular Signaling Peptides and Proteinsnutritional and metabolic diseasesGeneral Medicinemedicine.diseaseObesityOrexinPsychiatry and Mental healthFemaleCarrier ProteinsbusinessBody mass indexNarcolepsyEuropean Archives of Psychiatry and Clinical Neuroscience
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Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin

1993

A novel approach that combines information provided by the metabolism of pteridines and that of phenylalanine has been applied to the detection of heterozygotes for phenylketonuria. Phenylalanine, tyrosine, biopterin and neopterin have been measured in serum from normal controls and heterozygotes for classical phenylketonuria, before and after a phenylalanine oral load. Significant differences in neopterin and biopterin mean values in fasting serum and in the mean increase of biopterin induced by the phenylalanine load were found between groups. Inclusion of pteridine data in the discriminant analysis significantly improved the resolution of the classical phenylalanine loading test for the …

AdultMalemedicine.medical_specialtyPhenylalanineBiopterinPhenylalanineNeopterinchemistry.chemical_compoundPhenylketonuriasInternal medicineClassical phenylketonuriaGeneticsmedicineHumansTyrosineGenetics (clinical)ChemistryGenetic Carrier ScreeningNeopterinHeterozygote advantageTetrahydrobiopterinBiopterinEndocrinologyTyrosineFemalemedicine.drugPteridineJournal of Inherited Metabolic Disease
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Analysis of thiamine transporter genes in sporadic beriberi

2014

Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…

AdultMalemedicine.medical_specialtySLC19 A- SLC25 A19SLC19 AEndocrinology Diabetes and MetabolismGene mutationBeriberimedicine.disease_causeMitochondrial Membrane Transport Proteinslaw.inventionBeriberilawInternal medicineGenotypemedicineThiamine transporterObjective: Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity alters mitochondrial function impairs oxidative metabolism and causes selective neuronal death. We analyzed for the first time the role of all known mutations within three specific thiamine carrier genes SLC19 A2 SLC19 A3 and SLC25 A19 in a patient with atrophic beriberi a multiorgan nutritional disease caused by thiamine deficiency. Methods: A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema a subacute sensorimotor neuropathy and incontinence. Despite normal vitamin B1 serum levels his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database. Results: Thirty-seven mutations were tested: 29 in SLC19 A2 6 in SLC19 A3 and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated. Conclusion: This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations in the same genes or in other thiamine-associated genes in the occurrence of this nutritional neuropathy.HumansThiamineGenePolymerase chain reactionGeneticsMutationNutrition and DieteticsbiologyMembrane Transport ProteinsThiamine Deficiencymedicine.diseaseAlcoholismEndocrinologyMutationbiology.proteinThiamineMutations
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