The Blood Ontology: An ontology in the domain of hematology

Despite the importance of human blood to clinical practice and research, hematology and blood transfusion data remain scattered throughout a range of disparate sources. This lack of systematization concerning the use and definition of terms poses problems for physicians and biomedical professionals. We are introducing here the Blood Ontology, an ongoing initiative designed to serve as a controlled vocabulary for use in organizing information about blood. The paper describes the scope of the Blood Ontology, its stage of development and some of its anticipated uses

O vírus linfotrópico de células T humanos tipo 1 (HTLV-1): Quando suspeitar da infecção?

A infecção pelo vírus linfotrópico de células T humanas (HTLV) ocorre há milhares de anos. No entanto, o conhecimento sobre a sua patogênese é recente. Esse vírus é endêmico em várias regiões do mundo. No Brasil encontra-se presente em todos os estados, com prevalências variadas, sendo estimado cerca de 2,5 milhões de infectados. Fatores genéticos e imunológicos do hospedeiro são os principais responsáveis pelas manifestações clínicas associadas, que podem ser divididas em três categorias: neoplásicas, inflamatórias e infecciosas. Destacam-se a mielopatia associada ao HTLV (HAM/TSP) e a leucemia/linfoma de células T do adulto (ATLL) como as primeiras doenças associadas a esse retrovírus. Posteriormente, inúmeras outras doenças têm sido correlacionadas a esse vírus. Esta revisão atualiza conhecimentos epidemiológicos, fisiopatológicos, terapêuticos e principalmente diagnósticos do HTLV. O objetivo é permitir a suspeita etiológica do HTLV em suas diversas manifestações clínicas, hoje pouco correlacionadas com este agente.Human T Lymphotropic Virus (HTLV) infection has occurred for thousands of years. However, knowledge about this pathogenesis is recent. This virus is endemic worldwide. In Brazil it is present throughout the country , with different prevalence and about 2 5 million infected. Genetic and immunologic characteristics of the host are chiefly responsible for clinically associated manifestations which may be: neoplasic, inflammatory and infectious diseases. HTLV associated myelopathy (TSP/ HAM) and adult T cell leukemia/lymphoma (ATL) stand out as the first diseases associated to this retrovirus. Further, several diseases have been correlated to this virus. This review updates epidemiologic, physiopathologic, therapeutic and diagnostic knowledge of HTLV. The purose is to orient suspicion of HTLV etiology and several clinically associated manifestations, which currenty are seldom correlated with this virus

Mother-to-Child Transmission of Human T-Cell Lymphotropic Viruses-1/2: What We Know, and What Are the Gaps in Understanding and Preventing This Route of Infection

Submitted by Nuzia Santos ([email protected]) on 2015-06-25T16:17:29Z No. of bitstreams: 1 2014_175.pdf: 109662 bytes, checksum: 1dde780ff25ad38e3e74d10407ec9716 (MD5)Approved for entry into archive by Nuzia Santos ([email protected]) on 2015-06-25T16:17:38Z (GMT) No. of bitstreams: 1 2014_175.pdf: 109662 bytes, checksum: 1dde780ff25ad38e3e74d10407ec9716 (MD5)Approved for entry into archive by Nuzia Santos ([email protected]) on 2015-06-25T16:23:38Z (GMT) No. of bitstreams: 1 2014_175.pdf: 109662 bytes, checksum: 1dde780ff25ad38e3e74d10407ec9716 (MD5)Made available in DSpace on 2015-06-25T16:23:38Z (GMT). No. of bitstreams: 1 2014_175.pdf: 109662 bytes, checksum: 1dde780ff25ad38e3e74d10407ec9716 (MD5) Previous issue date: 2014Grupo Interdisciplinar de Pesquisa em HTLV. Belo Horizonte, MG, Brasil / Fundação Hemominas. Belo Horizonte, MG, Brasil / Faculdade da Saúde e Ecologia Humana. Vespasiano, MG, BrasilGrupo Interdisciplinar de Pesquisa em HTLV. Belo Horizonte, MG, Brasil/ Faculdade da Saúde e Ecologia Humana. Vespasiano, MG, BrasilGrupo Interdisciplinar de Pesquisa em HTLV. Belo Horizonte, MG, Brasil/ Fundação Hemominas. Belo Horizonte, MG, Brasil/ Faculdade da Saúde e Ecologia Humana. Vespasiano, MG, BrasilGrupo Interdisciplinar de Pesquisa em HTLV. Belo Horizonte, MG, Brasil/ Faculdade da Saúde e Ecologia Humana. Vespasiano, MG, BrasilGrupo Interdisciplinar de Pesquisa em HTLV. Belo Horizonte, MG, Brasil/ Faculdade da Saúde e Ecologia Humana. Vespasiano, MG, BrasilGrupo Interdisciplinar de Pesquisa em HTLV. Belo Horizonte, MG, Brasil/ Faculdade da Saúde e Ecologia Humana. Vespasiano, MG, BrasilGrupo Interdisciplinar de Pesquisa em HTLV. Belo Horizonte, MG, Brasil/ Fundação Hemominas. Belo Horizonte, MG, Brasil/ Fundação Hospitalar do Estado de Minas Gerais. Belo Horizonte, MG, BrasilGrupo Interdisciplinar de Pesquisa em HTLV. Belo Horizonte, MG, Brasil/ Faculdade da Saúde e Ecologia Humana. Vespasiano, MG, Brasil/ Fundação Oswaldo Cruz. Centro de Pesquisa Rene Rachou. Laboratório de Epidemiologia e Antropologia Médica.Grupo Interdisciplinar de Pesquisa em HTLV. Belo Horizonte, MG, Brasil/ Fundação Hemominas. Belo Horizonte, MG, BrasilGrupo Interdisciplinar de Pesquisa em HTLV. Belo Horizonte, MG, Brasil/ Fundação Hemominas. Belo Horizonte, MG, Brasil/ Faculdade da Saúde e Ecologia Humana. Vespasiano, MG, BrasilAlthough human T-cell lymphotropic viruses (HTLV-1/2) were described over 30 years ago, they are relatively unknown to the public and even to healthcare personnel. Although HTLV-1 is associated with severe illnesses, these occur in only approximately 10% of infected individuals, which may explain the lack of public knowledge about them. However, cohort studies are showing that a myriad of other disease manifestations may trouble infected individuals and cause higher expenditures with healthcare. Testing donated blood for HTLV-1/2 started soon after reliable tests were developed, but unfortunately testing is not available for women during prenatal care. Vertical transmission can occur before or after birth of the child. Before birth, it occurs transplacentally or by transfer of virus during cesarean delivery, but these routes of infection are rare. After childbirth, viral transmission occurs during breastfeeding and increases with longer breastfeeding and high maternal proviral load. Unlike the human immunodeficiency virus types 1 and 2, HTLV is transmitted primarily through breastfeeding and not transplacentally or during delivery. In this study, we review what is currently known about HTLV maternal transmission, its prevention, and the gaps still present in the understanding of this process

Use of an automated pyrosequencing technique for confirmation of sickle cell disease.

BackgroundThe diagnosis of sickle cell disease (SCD) is made by hemoglobin assays such as high-performance liquid chromatography (HPLC), isoelectric focusing and cellulose acetate or citrate agar electrophoresis. These assays are easy to perform and used in large-scale newborn screening in many countries. These tests however may not easily differentiate Sβ0 thalassemia from SS or identify other hemoglobin variants, and in this case, hemoglobin (HBB) gene sequencing may be necessary.ObjectivesTo develop a high throughput DNA based confirmatory assay for SCD and to detect mutations in the HBB gene.MethodsWe developed an automated pyrosequencing technique (PyS) based on QIAGEN technology (Hilden, Germany) to detect homozygous or heterozygous hemoglobin S mutations as well as hemoglobin C mutations. The technique was tested on 2,748 samples from patients enrolled in a multi-center SCD cohort in Brazil. Patients were previously tested using HPLC to diagnose SCD as part of routine clinical care. Any subjects with discrepant results between HPLC and PyS or with heterozygous hemoglobin S detected had Sanger sequencing of the HBB gene.ResultsWe identified 168 samples with discrepant results between HPLC and PyS and 100 with concordant PyS = heterozygous S and HPLC, which would suggest SB-thalassemia or other heterozygous S variants. The PyS assay correctly identified 1906 (98.7%) of the 1930 HbSS and 628 (98.7%) of the 636 HbSC samples. Of the 179 remaining samples, PyS correctly indicated S heterozygosis in 165 (92.2%). Of the 165 heterozygous S samples confirmed by Sanger as consistent with Sβ thalassemia genotype, 84 samples were classified as Sβ0 thalassemia and 81 as Sβ+ thalassemia. The most frequent beta thalassemia mutations of Sβ0 and Sβ+ were HBB: c.118C>T (Gln40Stop) and HBB c.92 + 6T> C, respectively.DiscussionThe PyS proved to be satisfactory for large-scale confirmatory testing of hemoglobin mutation. Moreover, with this study we were able to describe the most common β+ and β0 mutations in SCD patients with Sβ-thalassemia in a large multi-institutional SCD cohort in Brazil

Immunological Profile of HTLV-1-Infected Patients Associated with Infectious or Autoimmune Dermatological Disorders

<div><p>In the present study, the frequency, the activation and the cytokine and chemokine profile of HTLV-1 carriers with or without dermatological lesions were thoroughly described and compared. The results indicated that HTLV-1-infected patients with dermatological lesions have distinct frequency and activation status when compared to asymptomatic carriers. Alterations in the CD4⁺HLA-DR⁺, CD8⁺ T cell, macrophage-like and NKT subsets as well as in the serum chemokines CCL5, CXCL8, CXCL9 and CXCL10 were observed in the HTLV-1-infected group with skin lesions. Additionally, HTLV-1 carriers with dermatological skin lesions showed more frequently high proviral load as compared to asymptomatic carriers. The elevated proviral load in HTLV-1 patients with infectious skin lesions correlated significantly with TNF-α/IL-10 ratio, while the same significant correlation was found for the IL-12/IL-10 ratio and the high proviral load in HTLV-1-infected patients with autoimmune skin lesions. All in all, these results suggest a distinct and unique immunological profile in the peripheral blood of HTLV-1-infected patients with skin disorders, and the different nature of skin lesion observed in these patients may be an outcome of a distinct unbalance of the systemic inflammatory response upon HTLV-1 infection.</p></div

Phenotypic profile of HTLV-1-infected patients and uninfected controls with skin lesions.

<p>Phenotypic studies were performed by a FACS double-labeling protocol as described in <a href="http://www.plosntds.org/article/info:doi/10.1371/journal.pntd.0002328#s2" target="_blank">materials and methods</a>. The results are expressed as mean percentage (%) ± standard error of (A) CD3⁺ T cells, (B) CD19⁺ B cells, (C) T/B ratio, (D) CD4⁺ T cells, (E) CD8⁺ T cells, (F) CD4⁺/CD8⁺ ratio, (G) CD4⁺HLA-DR⁺ (H) CD8⁺HLA-DR⁺ (I) CD4⁺HLA-DR⁺/CD8⁺HLA-DR⁺ in the peripheral blood from HTLV-1-infected patients and controls with infectious (L^(INF) = dark gray rectangles) and autoimmune (L^(AI) = black-gray rectangles) skin lesions as well as carriers and controls without skin lesions (L⁽⁻⁾ = light gray rectangles). Significant differences at <i>P</i><0.05 are expressed by connecting lines.</p