European Ancestry Predominates in Neuromyelitis Optica and Multiple Sclerosis Patients from Brazil

Background: Neuromyelitis optica (NMO) is considered relatively more common in non-Whites, whereas multiple sclerosis (MS) presents a high prevalence rate, particularly in Whites from Western countries populations. However, no study has used ancestry informative markers (AIMs) to estimate the genetic ancestry contribution to NMO patients. Methods: Twelve AIMs were selected based on the large allele frequency differences among European, African, and Amerindian populations, in order to investigate the genetic contribution of each ancestral group in 236 patients with MS and NMO, diagnosed using the McDonald and Wingerchuck criteria, respectively. All 128 MS patients were recruited at the Faculty of Medicine of Ribeirão Preto (MS-RP), Southeastern Brazil, as well as 108 healthy bone marrow donors considered as healthy controls. A total of 108 NMO patients were recruited from five Neurology centers from different Brazilian regions, including Ribeirão Preto (NMO-RP). Principal Findings: European ancestry contribution was higher in MS-RP than in NMO-RP (78.5% vs. 68.7%) patients. In contrast, African ancestry estimates were higher in NMO-RP than in MS-RP (20.5% vs. 12.5%) patients. Moreover, principal component analyses showed that groups of NMO patients from different Brazilian regions were clustered close to the European ancestral population. Conclusions: Our findings demonstrate that European genetic contribution predominates in NMO and MS patients from Brazil. © 2013 Brum et al.

Frequency of reported European ancestry among multiple sclerosis patients from four cities in the southern and southeastern regions of Brazil

Recent reports on the prevalence of multiple sclerosis (MS) have described discrepancies between the rates in cities in the northeastern and southeastern regions of Brazil, representing a north-south gradient. European immigrants settled in southeastern and southern Brazil at the beginning of the twentieth century. In this study, we report the frequency of European ancestors among Brazilian MS patients in four cities in the southern and southeastern regions of Brazil. Methods: A total of 652 consecutive patients with confirmed MS diagnoses seen at four centers in Belo Horizonte, Ribeirão Preto, Londrina and Santos were asked about the origin of their ancestors, going back three generations. Results: 287 (44%) reported Italian ancestry, 211 (32%) reported that all ancestors were born in Brazil, 49 (7.5%) had Portuguese ancestry and 70 (10%) had Spanish ancestry. The patients in Belo Horizonte and Londrina reported higher proportions of Italian ancestry than the proportions estimated for the populations of their respective States. Conclusion: Brazil has a north-south gradient of 0.91/100,000 per degree of latitude, which is higher than the gradient for Latin America. Since the largest immigrant group that settled in southern and southeastern Brazil was from Italy, it is possible that Italian immigration was one of the factors that have contributed toward increasing the prevalence of MS in these regions. © 2013 Elsevier B.V. All rights reserved.

Translation, cross-cultural adaptation and validation of the Portuguese version of the DYMUS questionnaire for the assessment of dysphagia in multiple sclerosis

Translation, cross-cultural adaptation and validation of the DYMUS questionnaire for the assessment of dysphagia in multiple sclerosis. The original English version of the DYMUS was translated using the forward-backward technique, cross-culturally adaptated, pilot-tested in 40 patients, and then applied to 100 multiple sclerosis patients to assess the reliability and construct validity. Construct validity was assessed by Mann–Whitney test and Spearman’s correlation coefficient (rs). The internal consistency of the questionnaire was evaluated using Cronbach’s alpha coefficient and inter-item correlation. DYMUS-BR internal consistency was high (Cronbach’s alpha= 0.72); Cronbach’s alpha was 0.65 for the ‘dysphagia for solids’ subscale and 0.67 for the ‘dysphagia for liquids’ subscale and positive inter-item correlations was found between all items, except for weight loss question. Significant association (p<0.001) and correlation (rs = 0,357; p = 0.01) was found between DYMUS-BR and dysphagia self-assessment. The DYMUS-BR questionnaire maintained the characteristics of that originally described, demonstrating to be a reliable, valid, easy and consistent tool to be used by health professionals for preliminary selection of Brazilian MS patients who need more specific instrumental analyses of swallowing.

Supplementation and therapeutic use of vitamin D in patients with multiple sclerosis: Consensus of the Scientific Department of Neuroimmunology of the Brazilian Academy of Neurology

A esclerose múltipla (EM) é uma doença inflamatória, autoimune, desmielinizante e degenerativa do sistema nervoso central. Estudos epidemiológicos têm identificado associações de hipovitaminose D com doenças autoimunes. O principal objetivo desta revisão é responder se há evidências que indiquem o uso terapêutico de vitamina D em monoterapia para pacientes com EM. Por meio dos sites PUBMED, EMBASE, LILACS e Scielo foram realizadas buscas usando os descritores “vitamin D”, e “multiple sclerosis” até 12/09/2013. Estudos clínicos randomizados, controlados e duplo-cegos foram selecionados para avaliar a resposta terapêutica da vitamina D na EM. Não foram encontradas evidências científicas que justifiquem o uso da vitamina D em monoterapia no tratamento da EM, na prática clínica.

Season of birth as a risk factor for multiple sclerosis in Brazil

Risk factors for development of multiple sclerosis (MS) are still a matter of debate. Latitude gradient, vitamin D deficiency and season of birth are among the most investigated environmental factors associated with the disease. Several international studies suggest that birth in spring is a substantial risk factor for MS. We investigated the season of birth as a potential risk for MS in different geographical regions of Brazil. We conducted a cross-sectional retrospective study with 2257 clinically definite MS patients enrolled in 13 Brazilian MS clinics in the south, southeast, and northeast regions of Brazil. Demographic and clinical data relating to date of birth and clinical features of the disease were collected and analysed, and subsequently compared with birth date among the general Brazilian population. The distribution of date of birth of MS patients showed an increase in spring and a decrease in autumn, with no difference being observed in the other seasons. In conclusion, season of birth is a probable risk factor for MS in most parts of Brazil. These findings may be related to the role that vitamin D plays in MS pathogenesis. © 2013 Elsevier B.V. All rights reserved.

Reações cutâneas provocadas por imunomoduladores injetáveis associadas ao tratamento de esclerose múltipla

Pós-graduação em Enfermagem (mestrado profissional) - FMB

Social disability of Brazilian mood disorder patients

Mood disorders cause many social problems, often involving family relationships. Few studies are available in the literature comparing patients with bipolar, unipolar, dysthymic, and double depressive disorders concerning these aspects. In the present study, demographic and disease data were collected using a specifically prepared questionnaire. Social adjustment was assessed using the Disability Adjustment Scale and family relationships were evaluated using the Global Assessment of Relational Functioning Scale. One hundred patients under treatment for at least 6 months were evaluated at the Psychiatric Outpatient Clinic of the Botucatu School of Medicine, UNESP. Most patients were women (82%) more than 50 (49%) years old with at least two years of follow-up, with little schooling (62% had less than 4 years), and of low socioeconomic level. Logistic regression analysis showed that a diagnosis of unipolar disorder (P = 0.003, OR = 0.075, CI = 0.014-0.403) and dysthymia (P = 0.001, OR = 0.040, CI = 0.006-0.275) as well as family relationships (P = 0.002, OR = 0.953, CI = 0914-0.992) played a significant role in social adjustment. Unipolar and dysthymic patients presented better social adjustment than bipolar and double depressive patients (P < 0.001), results that were not due to social class. These patients, treated at a teaching hospital, may represent the severest mood disorder cases. Evaluations were made knowing the diagnosis of the patients, which might also have influenced some of the results. Social disabilities among mood disorder patients are very frequent and intensive.

Between freedom and reclusion: Social support as a quality-of-life component in the family caregiver-dependent person binomial

This is a qualitative study which uses Grounded Theory as its methodological framework and Symbolic Interactionism as a theoretical base to understand the experience of family caregivers for Cerebrovascular Accident (CVA) patients with regard to social support during their rehabilitation process at home. The components (themes and categories) of the phenomenon assuming home care and specifically the themes assuming care with support and assuming care without support were inter-related for the purpose of comparison and analysis, in order to apprehend how the interaction between them occurred, It was observed that, in addition to the recovery of the patient's autonomy, social support is one of the intervenient components in the quality of life for the family caregiver-disabled person binomial, particularly with respect to the caregiver's freedom to resume his/her life plan.

Long-Term Safety and Efficacy of Abatacept in Children With Juvenile Idiopathic Arthritis

Objective. We previously documented that abatacept was effective and safe in patients with juvenile idiopathic arthritis (JIA) who had not previously achieved a satisfactory clinical response with disease-modifying antirheumatic drugs or tumor necrosis factor blockade. Here, we report results from the long-term extension (LTE) phase of that study.Methods. This report describes the long-term, open-label extension phase of a double-blind, randomized, controlled withdrawal trial in 190 patients with JIA ages 6-17 years. Children were treated with 10 mg/kg abatacept administered intravenously every 4 weeks, with or without methotrexate. Efficacy results were based on data derived from the 153 patients who entered the open-label LTE phase and reflect >= 21 months (589 days) of treatment. Safety results include all available open-label data as of May 7, 2008.Results. of the 190 enrolled patients, 153 entered the LTE. By day 589, 90%, 88%, 75%, 57%, and 39% of patients treated with abatacept during the double-blind and LTE phases achieved responses according to the American College of Rheumatology (ACR) Pediatric 30 (Pedi 30), Pedi 50, Pedi 70, Pedi 90, and Pedi 100 criteria for improvement, respectively. Similar response rates were observed by day 589 among patients previously treated with placebo. Among patients who had not achieved an ACR Pedi 30 response at the end of the open-label lead-in phase and who proceeded directly into the LTE, 73%, 64%, 46%, 18%, and 5% achieved ACR Pedi 30, Pedi 50, Pedi 70, Pedi 90, and Pedi 100 responses, respectively, by day 589 of the LTE. No cases of tuberculosis and no malignancies were reported during the LTE. Pneumonia developed in 3 patients, and multiple sclerosis developed in 1 patient.Conclusion. Abatacept provided clinically significant and durable efficacy in patients with JIA, including those who did not initially achieve an ACR Pedi 30 response during the initial 4-month open-label lead-in phase.

Abordagem initial do paciente com mielopatia aguda não compressiva

Acute myelopathy are characterized by spinal cord dysfunction, developing sensitive, motor and autonomic signs and symptons. Since they are relatively rare, there are some difficulties to early diagnosis and to the beginning of the treatment. So, literature was reviewed to describe the main aetiologies of acute non compressive myelopathy: 1) demyelinating diseases; 2) systemic disease; 3) parainfectious; 4) delayed radiation myelopathy; 5) vascular myelopathy; 6) idiopatic and 7) vitamin B12 deficiency. Besides, we suggest an algorithm to initial approach of these patients and further aethiologic investigation. © Copyright Morelra Jr. Editora.

Qualidade de vida em portadores de esclerose múltipla

Multiple sclerosis (MS) is a chronic disease which may exert significant effects on the life of patients. Traditional outcome measures in MS lack in consider the effects of the disease on health-related quality of life (HRQoL). The goal of this study is to measure HRQoL in MS patients in the city of Uberlân-dia, State of Minas Gerais, Brazil. The Brazilian version of the SF-36 was applied in 23 MS patients and in 69 subjects of general population (blood donors) in Uberlândia. MS patients scored lower in all SF-36 scales than do the general population, principally in physical function domains. Patients with EDSS scores ≤3.5 had higher mean scores in four domains than do the patients with EDSS scores ≥4.0, and lower in all domains than control group. Depressive symptoms and heat intolerance showed correlation with SF-36 domains and components. In conclusion, MS patients have a significant negative impact on all HRQoL domains measured by SF-36, compared with general population, even in the stages with lower disability.

DNA vaccine containing the mycobacterial hsp65 gene prevented insulitis in MLD-STZ diabetes

Background: Our group previously demonstrated that a DNA plasmid encoding the mycobacterial 65-kDa heat shock protein (DNA-HSP65) displayed prophylactic and therapeutic effect in a mice model for tuberculosis. This protection was attributed to induction of a strong cellular immunity against HSP65. As specific immunity to HSP60 family has been detected in arthritis, multiple sclerosis and diabetes, the vaccination procedure with DNA-HSP65 could induce a cross-reactive immune response that could trigger or worsen these autoimmune diseases. Methods: In this investigation was evaluated the effect of a previous vaccination with DNA-HSP65 on diabetes development induced by Streptozotocin (STZ). C57BL/6 mice received three vaccine doses or the corresponding empty vector and were then injected with multiple low doses of STZ. Results: DNA-HSP65 vaccination protected mice from STZ induced insulitis and this was associated with higher production of IL-10 in spleen and also in the islets. This protective effect was also concomitant with the appearance of a regulatory cell population in the spleen and a decreased infiltration of the islets by T CD8+ lymphocytes. The vector (DNAv) also determined immunomodulation but its protective effect against insulitis was very discrete. Conclusion: The data presented in this study encourages a further investigation in the regulatory potential of the DNA-HSP65 construct. Our findings have important implications for the development of new immune therapy strategies to combat autoimmune diseases. © 2009 Santos et al; licensee BioMed Central Ltd.

Desafios e possibilidades: a luta por (re) costurar a vida

Pós-graduação em Serviço Social - FCHS