Differences sustained between diffuse and limited forms of juvenile systemic sclerosis in expanded international cohort. www.juvenile-scleroderma.com

OBJECTIVES: To evaluate the baseline clinical characteristics of juvenile systemic sclerosis (jSSc) patients in the international Juvenile SSc Inception Cohort (jSScC), compare these characteristics between the classically defined diffuse (dcjSSc) and limited cutaneous (lcjSSc) subtypes, and among those with overlap features. METHODS: A cross-sectional study was performed using baseline visit data. Demographic, organ system evaluation, treatment, and patient and physician reported outcomes were extracted and summary statistics applied. Comparisons between dcjSSc and lcSSc subtypes and patients with and without overlap features were performed using Chi-square and Mann Whitney U-tests. RESULTS: At data extraction 150 jSSc patients were enrolled across 42 centers, 83% were Caucasian, 80% female, dcjSSc predominated (72%), and 17% of the cohort had overlap features. Significant differences were found between dcjSSc and lcjSSc regarding the modified Rodnan Skin Score, presence of Gottron's papules, digital tip ulceration, 6 Minute walk test, composite pulmonary and cardiac involvement. All more frequent in dcSSc except for cardiac involvement. DcjSSc patients had significantly worse scores for physician rated disease activity and damage. A significantly higher occurrence of Gottron's papules, musculoskeletal involvement and composite pulmonary involvement, and significantly lower frequency of Raynaud's phenomenon, were seen in those with overlap features. CONCLUSION: Results from a large international jSSc cohort demonstrate significant differences between dcjSSc and lcjSSc patients including more globally severe disease and increased frequency of ILD in dcjSSc patients, while those with lcSSc have more frequent cardiac involvement. Those with overlap features had an unexpected higher frequency of interstitial lung disease

Medium-size-vessel vasculitis

Medium-size-artery vasculitides do occur in childhood and manifest, in the main, as polyarteritis nodosa (PAN), cutaneous PAN and Kawasaki disease. Of these, PAN is the most serious, with high morbidity and not inconsequential mortality rates. New classification criteria for PAN have been validated that will have value in epidemiological studies and clinical trials. Renal involvement is common and recent therapeutic advances may result in improved treatment options. Cutaneous PAN is a milder disease characterised by periodic exacerbations and often associated with streptococcal infection. There is controversy as to whether this is a separate entity or part of the systemic PAN spectrum. Kawasaki disease is an acute self-limiting systemic vasculitis, the second commonest vasculitis in childhood and the commonest cause of childhood-acquired heart disease. Renal manifestations occur and include tubulointerstitial nephritis and renal failure. An infectious trigger and a genetic predisposition seem likely. Intravenous immunoglobulin (IV-Ig) and aspirin are effective therapeutically, but in resistant cases, either steroid or infliximab have a role. Greater understanding of the pathogenetic mechanisms involved in these three types of vasculitis and better long-term follow-up data will lead to improved therapy and prediction of prognosis

New non-randomised model to assess the prevalence of discriminating behaviour: a pilot study on mephedrone

The main advantages of the SSC over other indirect methods are: simple administration, completion and calculation, maximum use of the data and good face validity for all respondents. Owing to the key feature that respondents are not required to answer the sensitive question directly, coupled with the absence of forced response or obvious self-protective response strategy, the SSC has the potential to cut across self-protective barriers more effectively than other estimation models. This elegantly simple, quick and effective method can be successfully employed in public health research investigating compromising behaviours

Sexualidade e reprodução: usos e valores relativos ao desejo de filhos entre casais de camadas médias no Rio de Janeiro, Brasil Sexuality and reproduction: uses and values related to the desire for children among middle-class couples in Rio de Janeiro, Brazil

Este trabalho analisa aspectos constitutivos da dinâmica sexual conjugal moderna entre casais de orientação heterossexual como parte dos resultados de uma pesquisa etnográfica realizada com "casais inférteis" no Rio de Janeiro, Brasil (2004-2005). O grupo investigado pode ser culturalmente definido por sua imersão na configuração de valores individualistas. Analisamos certos aspectos referidos pelos casais a partir dos investimentos em recursos médicos conceptivos. Destacam-se as idéias de "privacidade" e "espontaneidade" como expressões obrigatórias do exercício da sexualidade e da reprodução. Partiu-se do pressuposto de que tanto a experiência reprodutiva quanto a sexual enfatizam a primazia da representação de uma suposta liberdade de escolha. Como estratégia metodológica, privilegiou-se a trajetória de vida dos casais utilizando entrevistas semi-estruturadas e observação no contexto das entrevistas. Os resultados apontam formas divergentes, ou mesmo contraditórias, de vivenciar a experiência da parentalidade: de um lado, o filho como resultado "natural" da relação conjugal e, de outro, como fruto de uma escolha racional.<br>This study analyzes aspects comprising the modern conjugal dynamics of heterosexual couples as part of the results of an ethnographic study of "infertile couples" in Rio de Janeiro, Brazil (2004-2005). The target group can be defined culturally by its immersion in the configuration of individualist values. We analyze certain aspects reported by the couples based on their investments in medical resources for conception. The notions of "privacy" and "spontaneity" stood out as obligatory expressions in the exercise of sexuality and reproduction. The premise was that reproductive and sexual experience emphasizes the primacy of the representation of a supposed freedom of choice. The central methodological strategy was the couple's life trajectory, using semi-structured interviews and observation within the context of the interviews. The findings show divergent or even contradictory forms of experiencing parenthood: on the one hand, the child as the "natural" result of the conjugal relationship, and on the other, as the result of a rational choice

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.

Although mutations in CYTB (cytochrome b) or BCS1L have been reported in isolated defects of mitochondrial respiratory chain complex III (cIII), most cIII-defective individuals remain genetically undefined. We identified a homozygous nonsense mutation in the gene encoding tetratricopeptide 19 (TTC19) in individuals from two families affected by progressive encephalopathy associated with profound cIII deficiency and accumulation of cIII-specific assembly intermediates. We later found a second homozygous nonsense mutation in a fourth affected individual. We demonstrated that TTC19 is embedded in the inner mitochondrial membrane as part of two high-molecular-weight complexes, one of which coincides with cIII. We then showed a physical interaction between TTC19 and cIII by coimmunoprecipitation. We also investigated a Drosophila melanogaster knockout model for TTC19 that showed low fertility, adult-onset locomotor impairment and bang sensitivity, associated with cIII deficiency. TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies