Detection of TT virus in HIV-1 exposed but uninfected individuals and in HIV-1 infected patients and its influence on CD4+ lymphocytes and viral load.

The TT virus (TTV) was detected for the first time in the serum of a patient with post-transfusion hepatitis of unknown origin. TTV was subsequently, also found in the serum of blood donors with no history of blood transfusion. In the present study, the percentage of TTV carriers among HIV-infected and noninfected patients was determined. The study was conducted to evaluate CD4 count and HIV viral load in 100 asymptomatic patients infected with HIV-1, 100 symptomatic patients with AIDS, 100 HIV-1 exposed but uninfected individuals and 100 normal healthy blood donors. In this work, the presence of TTV was investigated by nested-PCR. TTV was detected in 6% of normal donors, 12.5% of HIV-infected individuals and 21% of exposed individuals. The presence of TTV was statistically significant in the HIV-exposed individuals (21/100) compared with blood donors (6/100). Odds ratio=4.16 (95%CI 1.60-10.83). No inter-group relations were found for CD4 and CD8 counts or HIV viral load. In the symptomatic group, patients with TTV presented minor viral load. This work demonstrated that TTV was detected in HIV-exposed individuals and no relation was verified for CD4, CD8 and viral load in the asymptomatic and symptomatic HIV patients.

CXCL12 rs1801157 polymorphism in patients with breast cancer, Hodgkin's lymphoma, and non-Hodgkin's lymphoma.

Chemokines and their receptors regulate the trafficking of immune cells during their development, inflammation, and tissue repair. The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/ stromal cell-derived factor-1 (SDF1)-3'A) in CXCL12/SDF1 gene was assessed in breast cancer, Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL), since the chemokine CXCL12, previously known as SDF1, and its receptor CXCR4 regulate leukocyte trafficking and many essential biological processes, including tumor growth, angiogenesis, and metastasis of different types of tumors. Genotyping was performed by PCR-RFLP (polymerase chain reaction followed by restriction fragment length polymorphism) using a restriction enzyme HpaII cleavage. No significant difference was observed in genotype distribution between breast cancer patients (GG: 57.3%; GA: 39.8%; AA: 2.9%) and healthy female controls (GG: 62.9%; GA: 33%; AA: 4.1%) nor between HL patients (GG: 61.1%; GA:27.8%; AA: 11.1%) and healthy controls (GG: 65.6%; GA: 28.9%; AA: 5.5%), whereas a significant difference was observed in genotype distribution between NHL patients (GG: 51.4%; GA: 47.1%; AA: 1.5%) and healthy controls (GG: 65.6%; GA: 28.9%; AA: 5.5%). Further studies will be necessary to elucidate the cancer chemokine network. However, this study suggests that CXCL12 rs1801157 polymorphism may have important implications in the pathogenesis of NHL.

Detection of TTV in peripheral blood cells from patients with altered ALT and AST levels.

This work analyzes the prevalence of TTV DNA in peripheral blood cells from patients with hepatic alterations and healthy blood donors and measures levels of sodium, potassium, urea, creatinine, phosphatase alkaline, total and direct bilirubin, gamma glutamyl transferase (GGT), alanine aminotransferase (ALT) and aspartate aminotransferase (AST) in certain randomly selected patients. DNA samples from 111 individuals were evaluated. They were divided into two groups, "A" (study) and "B" (control), including 54 patients with liver enzyme alterations (ALT/AST) presenting non-B-non-C hepatitis and 57 blood donors, respectively. TTV DNA was determined by nested PCR. Certain products of the second-round PCR were sequenced. Serum biochemical assay was performed and disclosed TTV in 31.48% (17/54) of patients in group A and 5.26% (3/57) in the control group B. TTV prevalence was significantly higher in patients with liver disease than in healthy donors. In group A, sodium, potassium, urea, creatinine, phosphatase alkaline, total and direct bilirubin, gamma glutamyl transferase (GGT), alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels were analyzed in certain randomly selected patients and no significant difference in biochemical levels (p>0.05) was found when TTV infected and noninfected individuals were compared. Knowledge related to TTV has rapidly increased, but many fundamental aspects remain unclear. This led us to question the role of TTV and doubt remains as to whether or not it is just a commensal virus. Further studies are necessary to confirm and extend these findings.

Ataxia espinocerebelar do tipo 2: aspectos clínicos, qualidade de vida, depressão e ansiedade em cinco portadores de uma família / Spinocerebellar ataxia type 2: clinical, quality life, depression and anxiety in five members of same family

A ataxia espinocerebelar do tipo 2 (SCA2) é uma das ataxias cerebelares autossômicas dominantes mais frequentes, resultando em significativo prejuízo funcional progressivo na vida dos portadores. Estudos relacionados à SCA2 no Brasil são escassos. O objetivo deste estudo foi descrever aspectos clínicos de cinco membros de uma mesma família portadores de SCA2 e correlacioná-los com qualidade de vida, depressão e ansiedade. Aspectos clínicos avaliados incluíram idade de início, tempo da doença e aplicação da Escala Cooperativa Internacional para Graduação de Ataxia (ICARS), além de avaliação de neuroimagem e tipos de tratamento. Para avaliação da ansiedade e depressão, foi utilizada a Escala de Beck, e para a qualidade de vida, a SF-36. Em relação ao estudo genético, foi avaliado o número de repetições do trinucleotídeo CAG. Análise estatística descritiva e inferencial foi realizada. As idades de início variaram de 14 a 30 anos e o tempo de doença variou de 8 a 27. A maior expansão de trinucleotídeo CAG foi 48, relacionada com a menor idade de início e pior ataxia. A caracterização clínica obtida por meio da ICARS foi variável e todos apresentaram diminuição da qualidade de vida, especialmente nos domínios: limitação por aspectos físicos, aspectos emocionais e capacidade funcional. A pontuação obtida pela Escala de Beck de depressão e ansiedade foi baixa em todos os indivíduos. Houve correlação, mas sem significância estatística, entre tempo de doença e capacidade funcional e entre tempo de doença e ICARS. Os indivíduos com SCA2 analisados neste estudo apresentaram achados clínicos variados e comprometimento das habilidades motoras e da qualidade de vida e não apresentaram depressão e ansiedade

Spinocerebellar ataxia type 2 (SCA2) is one of autosomal dominant cerebellar ataxias frequently, resulting in significant progressive functional impairment in the lives of carriers. Studies related the SCA2 in Brazil are scarce. The objective of this study was to describe clinical features of five members of same family with SCA2 and correlate them with the quality of life, depression and anxiety. Clinical aspects evaluated included age at onset, duration of disease and application of the International Cooperative Ataxia Rating Scale (ICARS), besides evaluation of neuroimaging and types of treatment. For assessment of anxiety and depression was used Beck Scale and for the quality of life was used SF-36. Regarding the genetic study was evaluated the number of repetitions of trinucleotide CAG. Analysis descriptive and inferential statistics was held. Early ages ranged from 14 to 30 years and duration of disease 8 to 27. The further expansion of trinucleotide CAG was 48 related to the lower age of onset and worse ataxia. Clinical characterization obtained by ICARS was variable and all showed a decrease in quality of life especially in the areas: limitations due to physical aspects, emotional aspects and functional capacity. The scores obtained by the Beck Scale for depression and anxiety were low in all individuals. There was correlation, but no statistical significance between disease duration and functional capacity and between disease duration and ICARS. Individuals with SCA2 analysed in this study had clinical variation, impairment of motor skills and quality of life and did not present depression and anxiety

Stromal cell-derived factor-1 chemokine gene variant in blood donors and chronic myelogenous leukemia patients.

Chronic myelogenous leukemia (CML) is a malignant myeloproliferative disorder that originates from a pluripotent stem cell expressing the bcr-abl oncogene. It is characterized by an abnormal release of the expanded, malignant stem cell clone from the bone marrow into the circulation. The stromal cell derived factor-1 (SDF-1) gene contains a common polymorphism, termed SDF1-3'A, in an evolutionarily conserved segment of the 3' untranslated region (UTR). In this work the SDF-1 genotypes of 25 patients (9-82 years old) who had been clinically and hematologically diagnosed with CML were compared with those of 60 healthy donors. In addition, the nature of bcr-abl hybrid mRNA and the association between demographic and hematological parameters were analyzed in cells from 12 CML patients (five women and seven men). All patients underwent blood collection during the chronic phase of disease after they received chemotherapy. b3a2 mRNA was detected in samples from eight of the CML patients and b2a2 mRNA was observed in four cases. An association between basophils and hemoglobin parameters was observed in that hemoglobin levels were higher in b2a2-expressing patients, and mean basophil levels were higher in patients expressing b3a2. Four of the CML patients (16%) were homozygous for 3'A allele. Of the patients who showed the presence of bcr-abl transcripts (N = 12), three presented the wt/wt genotype and nine were SDF1-3'A carriers. Three of the latter were homozygous for this mutation. It is possible that the bcr-abl fusion gene and the SDF1 genotype for 3'A allele have important implications for the pathogenesis of CML.

Detection of GBV-C/HGV RNA in cervico-vaginal smears from healthy individuals

The purpose of the present study was to evaluate the sexual transmission of GBV-C/HGV, through RNA detection in cervicovaginal smears. Therefore the GBV-C/HGV RNA in cervicovaginal smears from apparently healthy women was investigated using routine proceedings for prophylactic screening to cervical cancer. GBV-C/HGV RNA was detected by reverse transcriptase and polymerase chain reaction (RT-PCR). Only one woman presented co-infection with human papilloma virus (HPV). The GBV-C/HGV RNA was detected in 13/73 (17.57 percent) healthy women and it's prevalence in participating women between 28-43 years old was 53.85 percent. No association was found with GBV-C/HGV for the age of first sexual intercourse and number of pregnancies. In GBV-C/HGV RNA positive women, 69.23 percent were married. In conclusion, the present findings show that cervical and vaginal specimens could contain the GBV-C/HGV RNA.

O objetivo do presente estudo foi avaliar a transmissão sexual de GBV-C/HBV, através da detecção do RNA viral em raspados cérvico-vaginais. Portanto, a presença do RNA GBV-C/HGV foi investigada em raspados cérvico-vaginais em mulheres aparentemente saudáveis que realizaram exames preventivos para câncer cervical. GBV-C/HGV RNA foi detectado por reação de transcriptase reversa e reação em cadeia da polimerase (RT-PCR). Apenas uma mulher apresentou a co-infecção com o papiloma vírus humano (HPV). O RNA GBV-C/HGV foi detectado em 13/73 (17,57 por cento) mulheres saudáveis e sua prevalência entre participantes da idade de 28-43 anos foi de 53,85 por cento. Não foi observada relação entre a presença do RNA GBV-C/HGV com a idade de primeira relação sexual, nem com o número de gestações. Entre as mulheres que apresentavam o RNA viral, 69,23 por cento eram casadas. O presente estudo demonstrou que secreções cérvico-vaginais podem conter o RNA viral GBV-C/HBV.