Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.

BACKGROUND: RFC1-related disorder (RFC1/CANVAS) shares clinical features with other late-onset ataxias, such as spinocerebellar ataxias (SCA) and multiple system atrophy cerebellar type (MSA-C). Thinning of cranial nerves V (CNV) and VIII (CNVIII) has been reported in magnetic resonance imaging (MRI) scans of RFC1/CANVAS, but its specificity remains unclear. OBJECTIVES: To assess the usefulness of CNV and CNVIII thinning to differentiate RFC1/CANVAS from SCA and MSA-C. METHODS: Seventeen individuals with RFC1/CANVAS, 57 with SCA (types 2, 3 and 6), 11 with MSA-C and 15 healthy controls were enrolled. The Balanced Fast Field Echo sequence was used for assessment of cranial nerves. Images were reviewed by a neuroradiologist, who classified these nerves as atrophic or normal, and subsequently the CNV was segmented manually by an experienced neurologist. Both assessments were blinded to patient and clinical data. Non-parametric tests were used to assess between-group comparisons. RESULTS: Atrophy of CNV and CNVIII, both alone and in combination, was significantly more frequent in the RFC1/CANVAS group than in healthy controls and all other ataxia groups. Atrophy of CNV had the highest sensitivity (82%) and combined CNV and CNVIII atrophy had the best specificity (92%) for diagnosing RFC1/CANVAS. In the quantitative analyses, CNV was significantly thinner in the RFC1/CANVAS group relative to all other groups. The cutoff CNV diameter that best identified RFC1/CANVAS was ≤2.2 mm (AUC = 0.91; sensitivity 88.2%, specificity 95.6%). CONCLUSION: MRI evaluation of CNV and CNVIII using a dedicated sequence is an easy-to-use tool that helps to distinguish RFC1/CANVAS from SCA and MSA-C.

Frequency of LCT -13910C>T single nucleotide polymorphism associated with adult-type hypolactasia/lactase persistence among Brazilians of different ethnic groups.

BACKGROUND: Adult-type hypolactasia, the physiological decline of lactase some time after weaning, was previously associated with the LCT -13910C>T polymorphism worldwide except in Africa. Lactase non-persistence is the most common phenotype in humans, except in northwestern Europe with its long history of pastoralism and milking. We had previously shown association of LCT -13910C>T polymorphism with adult-type hypolactasia in Brazilians; thus, we assessed its frequency among different Brazilian ethnic groups. METHODS: We investigated the ethnicity-related frequency of this polymorphism in 567 Brazilians [mean age, 42.1 +/- 16.8 years; 157 (27.7%) men]; 399 (70.4%) White, 50 (8.8%) Black, 65 (11.5%) Brown, and 53 (9.3%) Japanese-Brazilian. DNA was extracted from leukocytes; LCT -13910C>T polymorphism was analyzed by PCR-restriction fragment length polymorphism. RESULTS: Prevalence of the CC genotype associated with hypolactasia was similar (57%) among White and Brown groups; however, prevalence was higher among Blacks (80%) and those of Japanese descent (100%). Only 2 (4%) Blacks had TT genotype, and 8 (16%) had the CT genotype. Assuming an association between CC genotype and hypolactasia, and CT and TT genotypes with lactase persistence, 356 (62.8%) individuals had hypolactasia and 211 (37.2%) had lactase persistence. The White and Brown groups had the same hypolactasia prevalence (approximately 57%); nevertheless, was 80% among Black individuals and 100% among Japanese-Brazilians (P < 0.01). CONCLUSION: The lactase persistence allele, LCT -13910T, was found in about 43% of both White and Brown and 20% of the Black Brazilians, but was absent among all Japanese Brazilians studied.

Bone marrow parasite burden among patients with New World kala-azar is associated with disease severity.

Kala-azar or visceral leishmaniasis, found mostly throughout the Indian Subcontinent, East Africa, and Brazil, kills 20,000-40,000 persons annually. The agents, Leishmania donovani and Leishmania infantum, are obligatory intracellular protozoa of mononuclear phagocytes found principally in the spleen and bone marrow. Protracted fever, anemia, wasting, hepatosplenomegaly, hemorrhages, and bacterial co-infections are typical features. One hundred and twenty-two (122) in-hospital patients were studied to verify if higher bone marrow parasite load estimated by quantitative polymerase chain reaction is associated with severe disease. The estimated median parasite load was 5.0 parasites/10(6) human nucleated cells. It is much higher in deceased than among survivors (median 75.0 versus 4.2). Patients who lost more weight had a higher parasite burden, as well as patients with epistaxis, abdominal pain, edema, and jaundice. This study suggests that higher parasite load is influenced by wasting, which may lead to more severe disease.

Matrix metalloproteinase-9 is consistently expressed in Hodgkin/Reed-Sternberg cells and has no impact on survival in patients with Epstein-Barr virus (EBV)-related and non-related Hodgkin lymphoma in Brazil.

Clinical and histological features of classical Hodgkin lymphoma (cHL) are primarily due to the effects of cytokines and enzymes produced by Hodgkin/Reed-Sternberg (HRS) cells and their surrounding inflammatory cells. In EBV-related cancers, the expression of viral latent membrane protein 1 correlates with an increased MMP9 expression. In this study, we evaluated the prognostic relevance of MMP9 expression and EBV status in HRS cells in patients with cHL in Brazil. We selected 97 patients with cHL for EBV and MMP9 detection. EBV was detected in 52.5%, and MMP9 expression positivity was found in 87.6%. Of all cases, there was no correlation between MMP9 expression and EBV status. Response to treatment and relapse rate was independent of MMP9 expression and EBV status. MMP9 positivity did not influence overall survival and event-free survival. The consistent and increased intensity of MMP9 expression in HRS cells make this enzyme a potential target for therapy.

Increased expression of CD4+CD25 +FOXP3+ regulatory T cells correlates with Epstein-Barr virus and has no impact on survival in patients with classical Hodgkin lymphoma in Brazil.

The tumor microenvironment of classical Hodgkin lymphoma (cHL) is clearly responsible for the maintenance of the malignant Hodgkin-Reed-Sternberg (HRS) cells, and Epstein-Barr virus (EBV) has been shown to play a role in this immune evasion. EBV can increase the migration of CD4(+)CD25(+)FOXP3(+) lymphocytes, named regulatory T cells (Tregs). In this study, we assessed the distribution and biological significance of Tregs in patients with cHL. Tissue microarrays were constructed using diagnostic biopsies available in 130 cHL patients and stained with CD4, CD8, CD25, and FOXP3 antibodies. For the present study, only cHL patients whose histology could be confirmed and EBV association established were studied. From the 130 cHL patients selected for this study, 56 were classified as EBV-related and 74 EBV non-related cHL. There were no association between clinical characteristics and the expression of Tregs. However, higher levels of Tregs correlated with EBV presence on HRS cells (p = 0.02), although it did not influence event-free survival (EFS) and overall survival (p = 0.98 and p = 0.59, respectively). This study demonstrates that Tregs expression correlates with EBV presence in HRS cells and has no impact on survival of patients with cHL. Further studies investigating the mechanisms in which EBV recruits Tregs to the tumor microenvironment will contribute not only to our understanding on the pathogenesis of cHL but also to the development of new therapeutic strategies.

Um estudo sobre jovens e violência no espaço escolar / Un estudio sobre juventud y violencia en la escuela / A study on youth and violence at school

Este texto é resultado de um projeto de pesquisa sobre a temática do jovem, violência e escola. O objetivo desse projeto foi investigar a interpretação dos jovens sobre a violência na sociedade, na escola e na sua própria vida. O pressuposto é o de que conhecer a perspectiva de agressores e vítimas sobre as suas experiências de violência contribui para esclarecer os universos simbólicos e normativos que regulam as condutas violentas e as possíveis formas de reduzir sua incidência. Os dados foram coletados por meio de grupos focais. Um dos grupos foi constituído por alunos qualificados pela escola como protagonistas de situações de violência. O outro grupo foi constituído por jovens considerados bons alunos. A análise dos dados mostra uma diferença entre a lógica da violência à escola e da escola, e a violência na escola.

Este texto es el resultado de un proyecto de investigación sobre el tema de la violencia juvenil y la escuela. El objetivo de este proyecto fue investigar la interpretación de los jóvenes sobre la violencia en la sociedad, en la escuela y en su propia vida. El supuesto es que el conocimiento de la perspectiva de los agresores y de las víctimas acerca de sus experiencias de violencia ayuda a clarificar los universos normativos y simbólicas que regulan el comportamiento violento y las posibles maneras de reducir su incidencia. Los datos fueron recolectados a través de grupos de enfoque. Un grupo fue formado por la escuela calificada como protagonistas de los estudiantes situaciones de violencia. El otro grupo estaba formado por los jóvenes considerados buenos estudiantes. Análisis de los datos muestra una diferencia entre la lógica de la violencia hacia y desde la escuela y la violencia escolar.

This paper is the result of a research project on the subject of youth, violence and school. The purpose of this project was to investigate the understanding of the young people on the violence in society, at school and in their own lives. The assumption is that knowing the aggressors' and victims' perspective about their experiences of violence helps to clarify the symbolic and the normative universes that rule violent conducts and the possible ways to reduce the incidence of violence. Data were collected through focus groups. One of the groups was composed by students qualified by their school's board as protagonists in situations of violence. The other group was consisted by those considered as good students. Data analysis shows the differences between the logic of violence at school, the school violence and violence against the school.

Um estudo sobre jovens e violência no espaço escolar / Un estudio sobre juventud y violencia en la escuela / A study on youth and violence at school

Este texto é resultado de um projeto de pesquisa sobre a temática do jovem, violência e escola. O objetivo desse projeto foi investigar a interpretação dos jovens sobre a violência na sociedade, na escola e na sua própria vida. O pressuposto é o de que conhecer a perspectiva de agressores e vítimas sobre as suas experiências de violência contribui para esclarecer os universos simbólicos e normativos que regulam as condutas violentas e as possíveis formas de reduzir sua incidência. Os dados foram coletados por meio de grupos focais. Um dos grupos foi constituído por alunos qualificados pela escola como protagonistas de situações de violência. O outro grupo foi constituído por jovens considerados bons alunos. A análise dos dados mostra uma diferença entre a lógica da violência à escola e da escola, e a violência na escola.

Este texto es el resultado de un proyecto de investigación sobre el tema de la violencia juvenil y la escuela. El objetivo de este proyecto fue investigar la interpretación de los jóvenes sobre la violencia en la sociedad, en la escuela y en su propia vida. El supuesto es que el conocimiento de la perspectiva de los agresores y de las víctimas acerca de sus experiencias de violencia ayuda a clarificar los universos normativos y simbólicas que regulan el comportamiento violento y las posibles maneras de reducir su incidencia. Los datos fueron recolectados a través de grupos de enfoque. Un grupo fue formado por la escuela calificada como protagonistas de los estudiantes situaciones de violencia. El otro grupo estaba formado por los jóvenes considerados buenos estudiantes. Análisis de los datos muestra una diferencia entre la lógica de la violencia hacia y desde la escuela y la violencia escolar.

This paper is the result of a research project on the subject of youth, violence and school. The purpose of this project was to investigate the understanding of the young people on the violence in society, at school and in their own lives. The assumption is that knowing the aggressors' and victims' perspective about their experiences of violence helps to clarify the symbolic and the normative universes that rule violent conducts and the possible ways to reduce the incidence of violence. Data were collected through focus groups. One of the groups was composed by students qualified by their school's board as protagonists in situations of violence. The other group was consisted by those considered as good students. Data analysis shows the differences between the logic of violence at school, the school violence and violence against the school.