Search results for "BODIES"

showing 10 items of 2217 documents

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

2015

Background Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures. Results Using autozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Joubert syndrome. Patient-derived fibroblasts displayed reduced ciliogenesis potential and abnormally elongated cilia. Investigation of disease pathophysiology revealed that Kiaa0556-/- null mice possess…

AdultMaleK04F10.2KIAA0556MicrotubuleMicrotubulesRetinaMiceJoubert syndromeCerebellumAnimalsHumansAbnormalities MultipleExomeCiliaEye AbnormalitiesSensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12]Caenorhabditis elegansChildCells CulturedAdenosine TriphosphatasesADP-Ribosylation FactorsResearchBrainMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]Kidney Diseases CysticBasal BodiesPedigreeMice Inbred C57BLRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]Basal bodyChild PreschoolMutationFemaleKataninMicrotubule-Associated ProteinsProtein BindingGenome Biology
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Modification of Peripheral Blood T-Lymphocyte Surface Receptors and Langerhans Cell Numbers in Hereditary Angioedema

1986

Hereditary angioedema (HAE) is a disease related to a complement disorder, namely a deficiency of C1 esterase inhibitor. Complement-split products are implicated in the regulation of the immune response, and we have compared some immunologic parameters between HAE and normal individuals. T-lymphocytes with receptors for IgG were increased in HAE, but no difference in T-cell suppressor activity for B-cells was detected. Furthermore, increased IgG receptor expression was not accompanied by any significant changes in the ratios of OKT4- and OKT8-defined antigens. Numbers of peripheral mononuclear cells (MNC) detected by alpha-naphthyl acetate esterase (ANAE) staining positivity were not signif…

AdultMaleLangerhans cellT-LymphocytesReceptor expressionReceptors Antigen T-CellFluorescent Antibody TechniqueCell CountT-Lymphocytes RegulatoryPeripheral blood mononuclear cellMonocytesLeukocyte CountImmune systemmedicineHumansAngioedemaReceptorSkinChemistryAntibodies MonoclonalGeneral MedicineMiddle Agedmedicine.diseaseComplement systemmedicine.anatomical_structureLangerhans CellsHereditary angioedemaImmunologyFemaleCell activationAmerican Journal of Clinical Pathology
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Aspirin Intolerance in Patients with Chronic Sinusitis

1999

Aspirin intolerance in patients with chronic sinusitis is often a cause of early recurrence of symptoms after surgical treatment. This study assesses 84 patients who were tested for acetylsalicylic acid intolerance after presenting with symptoms like chronic rhinosinusitis, sometimes bronchial asthma, coexisting allergies or a history of aspirin sensitivity. Nasal polyposis was found in a majority of cases, often recurrent after previous surgery. The levels of eicosanoids such as peptido-leukotrienes and prostaglandin E<sub>2</sub> were analyzed in isolated blood cells and compared with a healthy control group. Aspirin-intolerant patients showed elevated basal levels of peptido-…

AdultMaleLeukotrienesmedicine.medical_specialtyAllergymedicine.medical_treatmentGastroenterologyAntibodiesDinoprostoneDrug HypersensitivityNasal PolypsInternal medicinemedicineHumansAntipyreticSinusitisSinusitisAsthmaChemotherapyAspirinAspirinbusiness.industryAnti-Inflammatory Agents Non-SteroidalChronic sinusitisMiddle Agedmedicine.diseaseOtorhinolaryngologyEicosanoidAnesthesiaChronic DiseaseFemalebusinessmedicine.drugORL
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Screening for celiac disease in non-Hodgkin's lymphoma patients: a serum anti-transglutaminase-based approach

2003

Several studies have shown the existence of an association between celiac disease (CD) and non-Hodgkin's lymphoma (NHL). Our aim was to evaluate the usefulness of the serum anti-tissue transglutaminase (anti-tTG) antibody assay in screening for CD in consecutive NHL patients. In all, 80 consecutive patients (median age 61 years) with a new diagnosis of NHL were included. To compare the frequency of CD and of positive results for the anti-tTG assay, we enrolled 500 blood donors. In all patients serum anti-tTG was determined with two different ELISA: one based on tTG from guinea pig (gp-tTG) and the other based on human recombinant t-TG (h-tTG) as the antigens. Serum anti-endomysial antibodie…

AdultMaleLymphoma B-CellSettore MED/09 - Medicina InternaAdolescentDuodenumBiopsyGuinea PigsImmunoenzyme TechniqueLymphoma T-CellGliadinGuinea PigImmunoenzyme TechniquesAnimalsHumansIntestinal MucosaFluorescent Antibody Technique IndirectAutoantibodiesAgedNeoplasm StagingAged 80 and overTransglutaminasesAnimalLymphoma Non-HodgkinMiddle AgedAutoantibodieImmunoglobulin ACeliac DiseaseFemaleHuman
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Third-generation hepatitis C virus tests in asymptomatic anti-HCV-positive blood donors

1994

This study evaluated the performance of third-generation anti-HCV assays in blood donors who were positive by second-generation anti-HCV, and assessed any possible relationship between antibody patterns, HCV replication and liver damage. Fifty-two second-generation enzyme immunoassay-positive asymptomatic Italian blood donors were retested for anti-HCV by third-generation enzyme immunoassay and recombinant immunoblot assay (Ortho third-generation enzyme immunoassay, third-generation recombinant immunoblot assay), utilising recombinant C33c and NS5 and synthetic peptide C100 and C22 antigens, and for HCV-RNA by "nested" polymerase chain reaction with 5' region primers. Alanine aminotransfera…

AdultMaleMicrobiological TechniquesHepatitis C virusImmunoblottingBlood DonorsHepacivirusmedicine.disease_causeVirusSerologylaw.inventionCohort StudiesImmunoenzyme TechniquesAntigenlawmedicineHumansHepatitis AntibodiesPolymerase chain reactionHepatologybiologymedicine.diagnostic_testMiddle AgedVirologyImmunoassaybiology.proteinRecombinant DNARNA ViralFemaleAntibodyJournal of Hepatology
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Diagnostic significance of SARS-CoV-2 IgM positive/IgG negative antibody profile in symptomatic patients with suspected COVID-19 testing negative by …

2020

An outbreak of new coronavirus SARS-CoV-2 was occurred in Wuhan, China and rapidly spread to other cities and nations. The standard diagnostic approach that widely adopted in the clinic is nucleic acid detection by real-time RT-PCR. However, the false-negative rate of the technique is unneglectable and serological methods are urgently warranted. Here, we presented the colloidal gold-based immunochromatographic (ICG) strip targeting viral IgM or IgG antibody and compared it with real-time RT-PCR. The sensitivity of ICG assay with IgM and IgG combinatorial detection in nucleic acid confirmed cases were 11.1%, 92.9% and 96.8% at the early stage (1-7 days after onset), intermediate stage (8-14 …

AdultMaleMicrobiology (medical)2019-20 coronavirus outbreakCoronavirus disease 2019 (COVID-19)Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)Pneumonia ViralNegative antibodyReal-Time Polymerase Chain ReactionAntibodies ViralArticleImmunoglobulin GBetacoronavirusYoung AdultCOVID-19 TestingHumansMedicineSerologic Testsskin and connective tissue diseasesPandemicsAgedAged 80 and overImmunoassaybiologyReverse Transcriptase Polymerase Chain ReactionSARS-CoV-2business.industryfungiCOVID-19Middle AgedVirologybody regionsInfectious DiseasesReal-time polymerase chain reactionImmunoglobulin MImmunoglobulin MImmunoglobulin Gbiology.proteinFemaleAntibodyCoronavirus InfectionsbusinessJournal of Infection
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In vitroresponse toCandida albicansin cultures of whole human blood from young and aged donors

2007

Invasive infections with opportunistic fungi, such as Candida albicans, have become an increasing problem in aged adults in recent years. This work investigates the influence of human ageing on C. albicans recognition by toll-like receptors (TLRs), essential components of the innate immune system, using a cohort of 96 young (15-42 years) and aged (70 years) human volunteers. No significant differences between aged and young donors were observed on (1) cell surface TLR2, TLR6 and TLR4 expression on lymphocytes, monocytes and granulocytes, (2) production of cytokines [IL-8, IL-1beta, IL-6, IL-10, tumour necrosis factor (TNF)-alpha and IL-12p70] and prostaglandin E(2) (PGE(2)) by whole human b…

AdultMaleMicrobiology (medical)Adolescentmedicine.medical_treatmentImmunologyBiologyMicrobiologyDinoprostoneMonocytesCandida albicansmedicineHumansImmunology and AllergyBlood cultureLymphocytesCandida albicansAntibodies FungalAgedWhole bloodAged 80 and overMicrobial ViabilityInnate immune systemmedicine.diagnostic_testAge FactorsGeneral Medicinebiology.organism_classificationToll-Like Receptor 2Corpus albicansToll-Like Receptor 4TLR2BloodToll-Like Receptor 6Infectious DiseasesCytokineImmunologybiology.proteinCytokinesFemaleAntibodyGranulocytesFEMS Immunology & Medical Microbiology
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Cellular Immunity in Adolescents and Adults following Acellular Pertussis Vaccine Administration

2007

ABSTRACT Cell-mediated immune (CMI) responses to an acellular pertussis vaccine administered to 49 subjects, a subset of participants in the National Institutes of Health-funded adult acellular pertussis vaccine efficacy trial, were evaluated and compared with antibody responses to vaccine antigens. Levels of proliferation of and cytokine secretion from lymphocytes cultured in the presence of pertussis toxin, filamentous hemagglutinin, or pertactin were measured before vaccination and 1 month and 1 year after vaccination. Statistically significant increases in lymphocyte stimulation indices and cytokine secretion were noted at both 1 month and 1 year after vaccination. Brisk pertussis antig…

AdultMaleMicrobiology (medical)Cellular immunityBordetella pertussisAdolescentClinical BiochemistryImmunologyLymphocyte ActivationPertussis toxincomplex mixturesBordetella pertussisInterferon-gammaVaccines AcellularHumansImmunology and AllergyMedicinePertussis Vaccinebiologybusiness.industryVaccinationMiddle AgedVaccine ResearchVaccine efficacybiology.organism_classificationAntibodies BacterialVaccinationImmunologyPertussis vaccineFemaleCytokine secretionPertactinbusinessmedicine.drugClinical and Vaccine Immunology
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Seroprevalence of Aichi Virus in a Spanish Population from 2007 to 2008

2010

ABSTRACT Viruses are among the most common causes of acute gastroenteritis. In recent years, new viruses causing outbreaks of acute gastroenteritis have been described. Among these, Aichi virus was identified in Japan in 1989. Aichi virus belongs to the Kobuvirus genus in the family Picornaviridae . This virus has been detected in outbreaks of gastroenteritis associated with oyster consumption and in pediatric stool samples, but little is known about its epidemiology or pathogenesis. In the present study, the prevalence of antibodies to Aichi virus in a Spanish population was determined between 2007 and 2008 by using an enzyme-linked immunosorbent assay (ELISA). As in previous studies, a hi…

AdultMaleMicrobiology (medical)KobuvirusAdolescentvirusesClinical BiochemistryImmunologyEnzyme-Linked Immunosorbent AssayAntibodies ViralVirusYoung AdultNeutralization TestsSeroepidemiologic StudiesHumansImmunology and AllergySeroprevalenceChildNeutralizing antibodyAgedAged 80 and overPicornaviridae Infectionsbiologyvirus diseasesOutbreakMiddle Agedbiology.organism_classificationAntibodies NeutralizingVirologyTiterSpainKobuvirusChild Preschoolbiology.proteinFemaleMicrobial ImmunologyAntibodyAichi virusClinical and Vaccine Immunology
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Human subcutaneous dirofilariasis, Russia

2007

We report 14 cases of human subcutaneous dirofilariasis caused by Dirofilaria repens, diagnosed from February 2003 through July 2004, in patients from Rostov-on-Don, Russia. Serologic analysis showed evidence of high risk of exposure to D. repens. Surveillance studies on prevalence and prevention effectiveness of canine infection are needed to control this emerging zoonosis.

AdultMaleMicrobiology (medical)Pathologymedicine.medical_specialtyEpidemiologyAntibodies HelminthSubcutaneous dirofilariasisserologylcsh:MedicineRepensSerologyRussialcsh:Infectious and parasitic diseaseshistologyDirofilariasismedicineHumansHelminthsIn patientlcsh:RC109-216Skin Diseases ParasiticHuman subcutaneous dirofilariasisAgedbiologybusiness.industryZoonosislcsh:RDispatchMiddle Agedmedicine.diseasebiology.organism_classificationDermatologyDirofilaria repensInfectious DiseasesPCRFemaleDirofilaria repensDirofilariasisbusiness
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