Popliteal pterygium syndrome presenting with orofacial abnormalities. Report of a family.

A family with popliteal pterygium syndrome is reported: two children presented a mild form of the syndrome, while their mother exhibited full expression of the gene. Only 11 families with 29 affected members and 25 sporadic cases have been published. This malformation syndrome is inherited in an autosomal dominant pattern, but environmental factors or genetic heterogeneity cannot be excluded in sporadic occurrences. The variability of expression is discussed and a comparison with previously published familial cases is made: minor anomalies, if present in relatives of patients with full gene expressions, are as helpful in making the diagnosis as are major abnormalities. Careful evaluation of the proband's family is essential for diagnosis and subsequent genetic counselling

Fatores preditores de resultados no tratamento do transtorno obsessivo-compulsivo com as terapias comportamental e cognitivo-comportamental: uma revisão sistemática Outcome predictor factors in the treatment of obsessive-compulsive disorder using behavior and cognitive-behavior therapies: a systematic review

INTRODUÇÃO: As terapias comportamental e cognitivo-comportamental reduzem os sintomas do transtorno obsessivo-compulsivo em mais de 70% dos pacientes. Entretanto, cerca de 30% não obtêm nenhuma melhora. Conhecer fatores associados a esses desfechos poderia auxiliar numa melhor indicação do tratamento, incrementando sua eficácia. MÉTODO: Foram revisados trabalhos que investigaram fatores preditivos de resultados nos tratamentos do transtorno obsessivo-compulsivo, nas fontes PubMed, PsycINFO e LILACS. Termos utilizados na busca: predictive factors OR prediction AND obsessive-compulsive disorder AND exposure response prevention OR ritual prevention OR behav* therapy OR cognitive behav* therapy, resultando em 104 artigos. As referências dos artigos foram analisadas, possibilitando maior número de trabalhos revisados. Excluíram-se artigos que utilizaram apenas farmacoterapia e aqueles que não abordavam o tema, resultando em 29 artigos. DISCUSSÃO: As variáveis demográficas parecem exercer papel indireto, destacando-se sexo masculino e ausência de companheiro(a) como fatores de pior prognóstico. Maior gravidade e início precoce dos sintomas indicariam piores resultados. O transtorno esquizotípico comórbido é potencialmente negativo. Sintomas relacionados ao colecionismo e com conteúdo sexual/religioso indicam pior prognóstico. Maior nível de insight, motivação e colaboração com o tratamento são características favoráveis. Maior intensidade da melhora e a remissão completa são preditores para a não-recaída. CONCLUSÃO: A identificação de fatores preditores de resultados está longe de ser esclarecida. É possível que múltiplos fatores, cujas associações são complexas, atuem em conjunto. Os resultados podem depender de fatores não-específicos, ainda não abordados pelos estudos. A heterogeneidade do transtorno obsessivo-compulsivo e das pesquisas e o uso associado de medicamentos dificultam o estabelecimento de conclusões mais definidas.<br>INTRODUCTION: Behavioral and cognitive-behavioral therapies reduce symptoms of obsessive-compulsive disorder in over 70% of patients. However, about 30% do not show any improvement. The knowledge of factors associated with these outcomes may inform better treatment indications and improve treatment efficacy. METHOD: Review of studies that investigated predictors of obsessive-compulsive disorder treatment results in PubMed, PsychoINFO and LILACS databases. Terms used in the search were predictive factors OR prediction AND obsessive-compulsive disorder AND exposure response prevention OR ritual prevention OR behav* therapy OR cognitive behav* therapy." The search retrieved 104 studies. The references of retrieved studies were also analyzed to ensure that all relevant studies were included. Studies that used only pharmacotherapy or did not discuss the topic under analysis were excluded, and 29 studies met inclusion criteria. DISCUSSION: Demographic variables seem to play an indirect role in treatment results; male sex and not having partner are factors associated with poor prognosis. Greater severity and early symptom onset also indicate poor outcomes. Comorbid schizotypal disorder is potentially negative. Symptoms associated with hoarding and sexual/religious obsessions predict poor prognosis. Greater insight, motivation and collaboration with treatment are favorable characteristics. Greater improvement and complete remission of symptoms are predictors of no relapse. CONCLUSION: The identification of outcome predictors is still far from complete. Multiple factors may contribute to results, and their associations are complex. Results may depend on unspecific factors not yet investigated. Definite conclusions are difficult to reach because of the heterogeneity of obsessive-compulsive disorder and of the studies investigating it and the combined use of drugs

Less Frequent and Less Severe Flu-Like Syndrome in Interferon Beta-1a Treated Multiple Sclerosis Patients with at Least One Allele Bearing the G>C Polymorphism at Position -174 of the IL-6 Promoter Gene

One of the most common adverse event of interferon beta (IFNβ) therapy for multiple sclerosis is flu-like syndrome (FLS), which has been reportedly related to increased levels of cytokines such as interleukin 6 (IL-6) and tumor necrosis factor-alpha (TNF-α). Average cytokine levels can be affected by single nucleotide polymorphism in the gene promoter regions. To investigate whether IL-6 -174 G>C and TNF-α -376 G>A polymorphisms could be correlated to the incidence of FLS, and whether an anti-inflammatory/antipyretic therapy may influence FLS development, a prospective observational study was performed in 190 treatment naïve, multiple sclerosis patients who started IM IFNβ-1a 30mcg once weekly. The identification of IL-6 -174 G>C and TNF-α -376 G>A polymorphisms was achieved by performing an amplification-refractory mutation system. Serum IL-6 levels were measured using enzyme-linked immunosorbent assay in blood samples taken before therapy and then after the first and last IFNβ-1a injection of the follow-up. FLS-related symptoms were recorded by patients once per week during the first 12 weeks of therapy into a self-reported diary. We found that patients carrying at least one copy of the C allele at position -174 in the promoter of IL-6 gene produced lower levels of IL-6 and were less prone to develop FLS, which was also less severe. On the contrary, the polymorphism of TNF-α had no effect on FLS. Patients taking the first dose of anti-inflammatory/antipyretic therapy in the peri-injection period (within 1 hour) experienced a reduced FLS severity. In conclusion, the study of IL-6 -174 G>C polymorphism would allow the identification of patients lacking the C nucleotide on both alleles who are at risk of a more severe FLS, and may be addressed to a timely and stronger anti-inflammatory/antipyretic therapy for a more effective FLS prevention