Guidelines for the management and treatment of periodic fever syndromes Familial Mediterranean Fever

To establish guidelines based on scientific evidence for the management of familial Mediterranean fever. The Guideline was prepared from 5 clinical questions that were structured through PICO (Patient, Intervention or indicator, Comparison and Outcome), to search in key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. 10,341 articles were retrieved and evaluated by title and abstract; from these, 46 articles were selected to support the recommendations. 1. The diagnosis of FMF is based on clinical manifestations, characterized by recurrent febrile episodes associated with abdominal pain, chest or arthritis of large joints; 2. FMF is a genetic disease presenting an autosomal recessive trait, caused by mutation in the MEFV gene; 3. Laboratory tests are not specific, demonstrating high serum levels of inflammatory proteins in the acute phase of the disease, but also often showing high levels even between attacks. SAA serum levels may be especially useful in monitoring the effectiveness of treatment; 4. The therapy of choice is colchicine; this drug has proven effectiveness in preventing acute inflammatory episodes and progression towards amyloidosis in adults; 5. Based on the available information, the use of biological drugs appears to be an alternative for patients with FMF who do not respond or are intolerant to therapy with colchicine.

Autoinflammatory diseases: Mimics of Autoimmunity or part of its spectrum? Case presentation

Introduction: Autoinflammatory diseases are very rare diseases presenting within a wide clinical spectrum. Recognition of the main clinical features are challenging due to overlapping or mimicking with autoimmune diseases. Discussion: A case series is reviewed to illustrate typical and atypical features and the difficulties of these diagnoses in the low prevalence areas-a typical unrecognized case of familial Mediterranean fever (FMF) in a youngster, an atypical adult case with overlapping of IMF with Behcet disease, and an early presentation of FMF in infant presenting with inflammatory colitis, as well as the overlapping features within the cryopirin diseases spectrum in an 8-year-old boy who presented with systemic onset arthritis. Conclusion: These cases may represent examples of a very puzzling relationship among disorders of innate and adaptive immune systems and inflammation.

Trends in rheumatic fever: clinical aspects and perspectives in prophylactic treatments

Introduction: Rheumatic fever (RF), a systemic illness that may occur following Group A beta-hemolytic streptococcal (GABHS) pharyngitis in children, is a major problem in countries with limited resources. Because of its long track record and low cost, an injection of benzathine penicillin G (BPG) suspension every 3 or 4 weeks has been used as secondary prophylaxis. Despite its excellent in vitro efficacy, the inability of BPG to eradicate GABHS has been frequently reported.Areas covered: This work reviews the possible causes of failure, as well as the inconvenience of the current prophylactic treatment of acute RF and suggests a new pharmacotherapeutic system that could replace the current one.Expert opinion: RF is a major problem concerning only countries with limited resources and could be considered as a neglected disease. The dose regimen using BPG suspension results in failures, which could be avoided by the use of nanocarrier-based systems. To meet this ultimate goal, the research should be transposed from the laboratory scale to an industrial and clinical application level. This research should be conducted to produce a pharmaceutical dosage form that will be commercially available, consumed by and affordable for patients. However, health, environmental and socioeconomic hazards should be considered.

A study of familial stuttering

Here we study 13 families with stuttering. of the 13 families, 9 were persistent stutterers and 4 were recovered stutterers. In the 9 families with persistent stuttering, 24 were male and 10 were females. of the 4 families with recovered stutterers, 17 were male and 3 were female. of the 17 males, 12 were persistent stutterers and 5 recovered after adolescence. All females were recovered stutterers. We conclude with a short discussion of recent molecular Studies. (c) 2006 Wiley-Liss, Inc.

Fatores de risco para gagueira em crianças disfluentes com recorrência familial

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Fatores de risco na gagueira desenvolvimental familial e isolada

OBJETIVO: investigar e comparar os achados dos fatores de risco para a cronicidade da gagueira em crianças com gagueira desenvolvimental familial e isolada. MÉTODOS: participaram 60 crianças de ambos os gêneros, divididas em dois grupos: GI - 30 crianças com gagueira desenvolvimental familial; GII - 30 crianças com gagueira desenvolvimental isolada. A coleta de dados foi realizada por meio do Protocolo de Risco para a Gagueira do Desenvolvimento - PRGD (Andrade, 2006), que considera os seguintes fatores de risco: idade, gênero, tipo de surgimento e tempo de duração das disfluências, tipologia das disfluências, fatores comunicativos e qualitativos associados, histórico mórbido pré, peri e pós natal, fatores estressantes que ocorreram próximo ao surgimento do distúrbio, histórico familial, reação pessoal, familiar e social e atitudes familiares. RESULTADOS: quando o grupo I (GI) foi comparado com o grupo II (GII), a única diferença estatisticamente significante foi com relação aos fatores estressantes que ocorreram próximo ao surgimento do distúrbio. CONCLUSÃO: os resultados confirmam a natureza complexa da gagueira, bem como a necessidade de se investigar os vários fatores considerados como de risco para o distúrbio, com intuito de melhorar a compreensão de suas possíveis etiologias.

Alcoholic women and men: a comparative study of social and familial aspects and outcome

Objetivos: A proporção de ocorrência de alcoolismo em homens e mulheres tem uma variação de 14:1 até 2:1, mostrando a necessidade de estudos específicos para a população feminina. O objetivo deste estudo foi analisar o perfil e a evolução de alcoolistas, segundo gênero e gravidade da dependência. Métodos: Realizou-se um estudo longitudinal retrospectivo de 114 homens e 57 mulheres alcoolistas (CID-10), inscritos no ambulatório da Faculdade de Medicina de Botucatu, no período de 1990-1994 e avaliados até julho de 1997. Utilizou-se um questionário semi-estruturado, e, para avaliação da gravidade do alcoolismo, o Short Alcohol Dependence Data. Resultados/Conclusões: Os principais resultados mostraram que a estrutura familiar estava comprometida com: relacionamento difícil para 55,6% das mulheres e 65,7% dos homens; violência familiar em 74,1% das mulheres e 61,1% dos homens. As mulheres iniciaram a ingestão mais tarde que os homens (p=0,01), em geral com seus cônjuges (p=0,00). Não houve diferença de evolução no tratamento entre os gêneros. Os principais fatores associados à melhor resposta ao tratamento, independentemente do sexo, foram: nível de gravidade de dependência do álcool (dependentes leves e moderados apresentaram 5,59 vezes mais chances de melhorar do que os dependentes graves); ser praticante de alguma religião (2,3 vezes mais chances de melhora do que os pacientes que não eram praticantes); e tempo de seguimento no programa, negativamente correlacionado a chances de melhora (0,68 vezes menos chances de melhora que aqueles que permaneceram por tempo menor em tratamento).

Familial cancer: depressed NK-cell cytotoxicity in healthy and cancer affected members

Este estudo se reporta às funções de células natural killer (NK), como adesão, lise e citotoxicidade e de subpopulações de células T em uma família com alta prevalência de pacientes com câncer e que apresentaram: glioblastoma, leucemia mielóide crônica, osteoblastoma, melanoma e carcinomas gástrico, pancreático e cólon retal. Quinze membros dessa família foram estudados, sendo 13 sadios, acompanhados por 5 anos e dois com câncer: glioblastoma e leucemia mielóide crônica. Duas pessoas sadias, no momento da avaliação, desenvolveram posteriormente osteoblastoma mandibular ou melanoma maligno. Como controle, foram avaliados 19 indivíduos saudáveis de faixa etária equivalente. A determinação de linfócitos T CD3+ e de suas subpopulações CD4+ e CD8+ foi realizada empregando-se anticorpos monoclonais e a atividade citotóxica de células NK, avaliada pelo teste de single-cell contra células alvo da linhagem eritroleucêmica K562. Os resultados mostraram que as percentagens de células T totais (CD3+), da subpopulação CD4+ e da relação CD4/CD8 foram significativamente menores nos indivíduos da família estudada em comparação aos valores observados no grupo controle. em todos os membros dessa família a percentagem de formação de conjugados entre células NK-células alvo foi inferior ao valor mínimo observado nos controles. Essa alteração poderia estar relacionada a defeito na expressão de moléculas de adesão, presentes na membrana de células NK, como provável causa das alterações funcionais dessas células. A herança dos mecanismos determinantes desta deficiência pode ser um fator de risco, com valor prognóstico para o desenvolvimento de cancer.

Higher prevalence of obsessive-compulsive spectrum disorders in rheumatic fever

Objective: This study aims to compare the prevalence of obsessive-compulsive spectrum disorders (OCSD) in psychiatric outpatients with and without a history of rheumatic fever (RF).Methods: An analytical cross-sectional study assessing a large sample of consecutive psychiatric outpatients at a Brazilian private practice was conducted during a 10-year period. Psychiatric diagnoses were made by a senior psychiatrist based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Best-estimate diagnosis procedure was also performed.Results: The total sample comprised 678 subjects, 13 of whom (1.92%) presented with a previous history of RF. This group showed a higher prevalence of subclinical obsessive-compulsive disorder (P=.025) and OCSD (P=.007) when compared to individuals with no such history.Conclusions: A previous history of RF was associated with OCSD. These results suggest that clinicians should be encouraged to actively investigate obsessive-compulsive symptoms and related disorders in patients with a positive history of RF. (C) 2009 Published by Elsevier B.V.

Brazilian spotted fever: A reemergent zoonosis

Brazilian spotted fever is caused by the bacterium Rickettsia rickettsii, which is the most pathogenic species of the spotted-fever rickettsiae group and is transmitted by the bite of infected ticks. Amblyomma cajennense is the most important tick species involved in the cycle of this zoonosis in Brazil as it presents low host specificity, great number of natural reservoirs and wide geographic distribution. It was first described in the state of São Paulo in 1929 and later in Rio de Janeiro, Minas Gerais and Bahia. The number of cases decreased in the 1940's with the development of new plague control techniques and antibiotics. In the last decades, the number of new cases has increased. The current review aimed at reporting some of the epidemiological and public health aspects of this reemergent disease with new foci, mainly in the southeastern region of Brazil.

Evaluation of muscle tissue growth in Young Mediterranean Buffaloes slaughtered at different weights

This study evaluated muscle, adipose and bone tissue growth in young Mediterranean buffaloes slaughtered with different weights. Twenty eight non-castrated males, approximately 14 months old and 330 kilos, were distributed in four experimental and one control groups. Received the same diet during a non-fixed period and when reached the pre-established weights (450 kg, 480 kg, 510 kg, 540 kg) were fasted for 16 hours and slaughtered. NRC 1996, level 2, ruminal simulation program for non-castrated animals with a daily weight gain of 1.40 kg determined percentage composition of experimental diet (dry matter): coast cross hay (20.6%), corn silage (7.8%), cotton seed (8.2%), humid corn silage (46%) and commercial mineral concentrate (17.4%), representing 13% of crude protein and 2,68% of metabolizable energy (Mcal/kg). Feed was offered ad libitum twice daily. Slaughter of control group occurred after 30 days of an adaptation period. The other ones were weighted each 28 days until reached pre-established weight. Carcasses were chilled for 18 hours under -5 degrees C. Ninth, 10 degrees and 11 degrees ribs of the half left carcass were submitted to HH section and according to the statistical regression analysis (SAS, 1996), allometric coefficient value was negative (b<1) demonstrating the early growth of muscle in relation to empty carcass weight.

Genetic variability in Mediterranean buffalos evaluated by pedigree analysis

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Muscle fiber type characterization and myosin heavy chain (MyHC) isoform expression in Mediterranean buffaloes

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Phytotoxic Activities of Mediterranean Essential Oils

Twelve essential oils from Mediterranean aromatic plants were tested for their phytotoxic activity, at different doses, against the germination and the initial radicle growth of seeds of Raphanus sativus, Lactuca sativa and Lepidium sativum. The essential oils were obtained from Hyssopus officinalis, Lavandula angustifolia, Majorana hortensis, Melissa officinalis, Ocimum basilicum, Origanum vulgare, Salvia officinalis and Thymus vulgaris (Lamiaceae), Verbena officinalis (Verbenaceae), Pimpinella anisum, Foeniculum vulgare and Carum carvi (Apiaceae). The germination and radicle growth of tested seeds were affected in different ways by the oils. Thyme, balm, vervain and caraway essential oils were more active against both germination and radicle elongation.