Search results for "Lymphatic"

showing 10 items of 1179 documents

HLA antigens in Sicilian patients affected by chronic myelogenous leukaemia.

1987

SUMMARY HLA antigens were investigated in Sicilian patients with chronic myelogenous leukaemia (CML) and in Sicilian healthy controls. The frequency of the HLA-DRw6 antigen was significantly decreased in the group of patients. These results suggest that DRw6 may be a marker for decreased susceptibility to the etiological or pathogenic mechanism(s) which produce CMLs.

Genetic MarkersGenetic LinkageImmunologyHLA-DR6 AntigenHuman leukocyte antigenImmunogeneticsHLA-DR AntigensBiologylanguage.human_languageAntigenGene FrequencyHaplotypesItalyHLA Antigenshemic and lymphatic diseasesLeukemia Myelogenous Chronic BCR-ABL PositiveImmunologyGeneticsEtiologylanguageHumansRisk factorChronic myelogenous leukaemiaSicilianJournal of immunogenetics
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Late onset and pregnancy-induced congenital thrombotic thrombocytopenic purpura

2014

SummaryWe report on our patient (case 2) who experienced a first acute episode of thrombotic thrombocytopenic purpura (TTP) at the age of 19 years during her first pregnancy in 1976 which ended in a spontaneous abortion in the 30th gestational week. Treatment with red blood cell concentrates was implemented and splenectomy was performed. After having suffered from several TTP episodes in 1977, possibly mitigated by acetylsalicylic acid therapy, an interruption and sterilization were performed in 1980 in her second pregnancy thereby avoiding another disease flare-up. Her elder sister (case 1) had been diagnosed with TTP in 1974, also during her first pregnancy. She died in 1977 during her se…

Genetic Markersmedicine.medical_specialtyPediatricsmedicine.medical_treatmentSplenectomyThrombotic thrombocytopenic purpuraADAMTS13 ProteinLate onsetCongenital Thrombotic Thrombocytopenic Purpura030204 cardiovascular system & hematologyAbortionYoung Adult03 medical and health sciences0302 clinical medicinePregnancyhemic and lymphatic diseasesHumansMedicineGenetic Testing610 Medicine & healthPregnancyPurpura Thrombotic Thrombocytopenicbusiness.industryPregnancy Complications HematologicHematologymedicine.diseaseADAMTS13SurgeryADAM Proteins030220 oncology & carcinogenesisGestationFemalebusinessHämostaseologie
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Flow Cytometric Immunobead Assay for Detection of BCR-ABL1 Fusion Proteins in Chronic Myleoid Leukemia: Comparison with FISH and PCR Techniques

2015

Chronic Myeloid Leukemia (CML) is characterized by a balanced translocation juxtaposing the Abelson (ABL) and breakpoint cluster region (BCR) genes. The resulting BCR-ABL1 oncogene leads to increased proliferation and survival of leukemic cells. Successful treatment of CML has been accompanied by steady improvements in our capacity to accurately and sensitively monitor therapy response. Currently, measurement of BCR-ABL1 mRNA transcript levels by real-time quantitative PCR (RQ-PCR) defines critical response endpoints. An antibody-based technique for BCR-ABL1 protein recognition could be an attractive alternative to RQ-PCR. To date, there have been no studies evaluating whether flow-cytometr…

Genetics and Molecular Biology (all)medicine.medical_specialtyScienceFusion Proteins bcr-ablBiologyBiochemistryPolymerase Chain ReactionInternal medicinehemic and lymphatic diseasesmedicineHumansAgricultural and Biological Sciences (all); Biochemistry Genetics and Molecular Biology (all); Medicine (all)In Situ Hybridization FluorescenceImmunoassayMultidisciplinaryABLHematologymedicine.diagnostic_testMedicine (all)QRbreakpoint cluster regionMyeloid leukemiaLeukemia Myelomonocytic Chronicmedicine.diseaseFlow CytometryMolecular biologyFusion proteinLeukemiaReal-time polymerase chain reactionAgricultural and Biological Sciences (all)ImmunoassayMedicineResearch ArticlePLoS ONE
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EULAR/PRINTO/PRES criteria for Henoch-Schonlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arte…

2010

EULAR/PRINTO/PRES Objectives To validate the previously proposed classification criteria for Henoch-Schonlein purpura (HSP), childhood polyarteritis nodosa (c-PAN), c-Wegener granulomatosis (c-WG) and c-Takayasu arteritis (c-TA).Methods Step 1: retrospective/prospective webdata collection for children with HSP, c-PAN, c-WG and c-TA with age at diagnosis <= 18 years. Step 2: blinded classification by consensus panel of a representative sample of 280 cases. Step 3: statistical (sensitivity, specificity, area under the curve and.-agreement) and nominal group technique consensus evaluations.Results 827 patients with HSP, 150 with c-PAN, 60 with c-WG, 87 with c-TA and 52 with c-other were compar…

Genetics and Molecular Biology (all)myalgiaVasculitismedicine.medical_specialtyHenoch-Schonlein purpuraAdolescentIgA VasculitisClassification criteriaInternational CooperationImmunologychildhood polyarteritis nodosaBiochemistryGeneral Biochemistry Genetics and Molecular BiologyRheumatologyhemic and lymphatic diseasesTerminology as TopicSchoenlein-HenochmedicineHumansImmunology and Allergycardiovascular diseasesArteritisChildPurpurac-Wegener granulomatosisAdolescent; Child; Epidemiologic Methods; Granulomatosis with Polyangiitis; Humans; International Cooperation; Polyarteritis Nodosa; Purpura Schoenlein-Henoch; Takayasu Arteritis; Terminology as Topic; Rheumatology; Immunology; Biochemistry Genetics and Molecular Biology (all); Immunology and Allergycriteria; children; Henoch-Schönlein purpura; childhood polyarteritis nodosa; Wegener granulomatosis; Takayasu arteritis; EULAR; PRINTO; PRESPolyarteritis nodosabusiness.industryGranulomatosis with Polyangiitismedicine.diseaseTakayasu ArteritisDermatologyPolyarteritis NodosaSurgeryHenoch-Schönlein purpuraIgA vasculitisSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAmedicine.symptomEpidemiologic MethodsGranulomatosis with polyangiitisVasculitisbusinessRheumatismc-Takayasu arteriti
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Association of JAK-STAT pathway related genes with lymphoma risk: results of a European case-control study (EpiLymph)

2011

Previous studies have suggested an important role for the Janus kinase-signal transducer and activator of transcription (JAK-STAT) signalling pathway in tumour development. Therefore, we explored genetic variants in JAK-STAT pathway associated genes with lymphoma risk. In samples of the EpiLymph case-control study we genotyped 1536 single nucleotide polymorphisms (SNPs) using GoldenGate BeadArray™ Technology (Illumina, San Diego, CA, USA). Here, we report the associations between selected SNPs and haplotypes of the JAK-STAT pathway and risk of Hodgkin lymphoma (HL), B-cell non-Hodgkin lymphoma (B-NHL) and most frequent B-NHL subtypes. Among 210 relevant JAK-STAT pathway-related SNPs, polymo…

Genetics0303 health sciencesmedicine.medical_specialtyHematologyHaplotypeJAK-STAT signaling pathwaySingle-nucleotide polymorphismHematologyBiologymedicine.diseaseLymphomaSTAT5A03 medical and health sciences0302 clinical medicineimmune system diseaseshemic and lymphatic diseases030220 oncology & carcinogenesisInternal medicineIL12ACancer researchmedicineSNP030304 developmental biologyBritish Journal of Haematology
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Intragenic anaplastic lymphoma kinase (ALK) rearrangements: Translocations as a novel mechanism ofALKactivation in neuroblastoma tumors

2014

Anaplastic lymphoma kinase (ALK) has been demonstrated to be deregulated in sporadic as well as in familiar cases of neuroblastoma (NB). Whereas ALK-fusion proteins are common in lymphoma and lung cancer, there are few reports of ALK rearrangements in NB indicating that ALK mainly exerts its oncogenic capacity via activating mutations and/or overexpression in this tumor type. In this study, 332 NB tumors and 13 cell lines were screened by high resolution single nucleotide polymorphism microarray. Gain of 2p was detected in 23% (60/332) of primary tumors and 46% (6/13) of cell lines, while breakpoints at the ALK locus were detected in four primary tumors and two cell lines. These were furthe…

GeneticsCancer ResearchKinaseGene rearrangementAmpliconBiologymedicine.diseasemedicine.disease_causeLymphomaExonhemic and lymphatic diseasesNeuroblastomaGeneticsmedicineCancer researchAnaplastic lymphoma kinaseCarcinogenesisGenes, Chromosomes and Cancer
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Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes

2021

Aim: Recessive genetic variation is thought to play a role in non-Hodgkin lymphoma (NHL) etiology. Runs of homozygosity (ROH), defined based on long, continuous segments of homozygous SNPs, can be used to estimate both measured and unmeasured recessive genetic variation. We sought to examine genome-wide homozygosity and NHL risk.Methods: We used data from eight genome-wide association studies of four common NHL subtypes: 3061 chronic lymphocytic leukemia (CLL), 3814 diffuse large B-cell lymphoma (DLBCL), 2784 follicular lymphoma (FL), and 808 marginal zone lymphoma (MZL) cases, as well as 9374 controls. We examined the effect of homozygous variation on risk by: (1) estimating the fraction o…

GeneticsChronic lymphocytic leukemiadiffuse large B-cell lymphomaFollicular lymphomaSingle-nucleotide polymorphismRuns of HomozygosityBiologymedicine.diseasemarginal zone lymphomaArticlefollicular lymphomaimmune system diseaseshemic and lymphatic diseasesGenetic variationmedicinechronic lymphocytic leukemiahomozygosityDiffuse large B-cell lymphomaInbreedingNon-Hodgkin lymphomaGenetic associationJournal of Translational Genetics and Genomics
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Cytogenetic response induced by interferon alpha in the myeloproliferative disorder with eosinophilia, T cell lymphoma and the chromosomal translocat…

1998

Cytogenetic response induced by interferon alpha in the myeloproliferative disorder with eosinophilia, T cell lymphoma and the chromosomal translocation t(8;13)(p11;q12)

Geneticscongenital hereditary and neonatal diseases and abnormalitiesCancer ResearchAlpha interferonChromosomal translocationHematologyBiologymedicine.diseaseCytogenetic ResponseLymphomaOncologyhemic and lymphatic diseasesCancer researchmedicineEosinophiliaT-cell lymphomamedicine.symptomLeukemia
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αααanti-4.2 Haplotype and heterozygous β° thalassemia in a Sicilian family

1985

The presence of the αααanti-4.2 haplotype and heterozygous β° thalassemia in a Sicilian family is described. These findings confirm the presence in Italy of a leftward deletion (−α4.2) and indicate that this may not be rare. Furthermore, although the β thalassemia determinant in this family has a severe expression, the interaction with the triplicated α gene does not necessarily express itself as thalassemia intermedia.

Geneticscongenital hereditary and neonatal diseases and abnormalitiesThalassemiaHaplotypeBiologymedicine.diseaseHuman geneticslanguage.human_languageHemoglobinopathyhemic and lymphatic diseasesGene duplicationGeneticslanguagemedicineGlobinGeneSicilianGenetics (clinical)Human Genetics
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Mode of inheritance and stability of resistance toBacillus thuringiensis varkurstaki in a diamondback moth (Plutella xylostella) population from Mala…

2000

Genetic inheritance of resistance to Bacillus thuringiensis var kurstaki (BTK) was examined in a diamondback moth (Plutella xylostella) population collected from the Melaka region of Malaysia. A BTK-selected sub-population (BTK-SEL) which was more than 100-fold resistant to BTK compared with a susceptible (ROTH) population of P xylostella was used with standard reciprocal crosses and back-crosses between ROTH and BTK-SEL. Logit regression analysis of F 1 reciprocal crosses indicated that BTK resistance was inherited as an incompletely recessive autosomal trait and controlled by a single locus. In contrast, other studies have shown that resistance to Cry1Ac is inherited as an incompletely do…

Geneticseducation.field_of_studyDiamondback mothPesticide resistancebiologyfungiPopulationPlutellaLocus (genetics)General Medicinebiology.organism_classificationCry1Acimmune system diseaseshemic and lymphatic diseasesInsect ScienceBacillus thuringiensisBotanyAlleleeducationAgronomy and Crop SciencePest Management Science
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