Sweet's syndrome associated with cellulitis - a challenging diagnosis

Sweet's syndrome is a neutrophilic dermatosis with worldwide distribution that has been associated with inflammatory autoimmune diseases, infections, malignancies, drugs, and pregnancy. The disease is idiopathic in up to 50% of patients. A 64-year-old woman, diagnosed with right limb cellulitis (4 days of evolution), was seen at our department, due to persistent cellulitis and progressive appearance of painful nodules and plaques in both shins and the right forearm (2 days of evolution). Taken together, clinical, laboratory and pathological data suggested the diagnosis of Sweet's syndrome, probably secondary to cellulitis of the right inferior limb. We suggest that cellulitis may be associated with Sweet's syndrome, a rare association in the literature

Perfil da fluência: comparação entre falantes do Português Brasileiro e do Português Europeu

The purpose of the study was to compare the speech fluency of Brazilian Portuguese speakers with that of European Portuguese speakers. The study participants were 76 individuals of any ethnicity or skin color aged 18–29 years. Of the participants, 38 lived in Brazil and 38 in Portugal. Speech samples from all participants were obtained and analyzed according to the variables of typology and frequency of speech disruptions and speech rate. Descriptive and inferential statistical analyses were performed to assess the association between the fluency profile and linguistic variant variables. We found that the speech rate of European Portuguese speakers was higher than the speech rate of Brazilian Portuguese speakers in words per minute (p=0.004). The qualitative distribution of the typology of common dysfluencies (p<0.001) also discriminated between the linguistic variants. While a speech fluency profile of European Portuguese speakers is not available, speech therapists in Portugal can use the same speech fluency assessment as has been used in Brazil to establish a diagnosis of stuttering, especially in regard to typical and stuttering dysfluencies, with care taken when evaluating the speech rate.O objetivo do estudo foi comparar a fluência de fala de falantes do Português Brasileiro com a de falantes do Português Europeu. Participaram deste estudo 76 indivíduos, sem distinção de raça e cor, com idades entre 18 e 29 anos, sendo 38 residentes no Brasil e 38 em Portugal. Foram obtidas amostras de fala de todos os participantes e analisadas segundo as variáveis de tipologia e frequência das disfluências e velocidade de fala. Foi realizada análise estatística descritiva e inferencial para verificar a associação entre as variáveis do perfil da fluência e da variante linguística. Foi observado que a velocidade de fala dos falantes do Português Europeu em palavras por minuto (p=0,004) é maior que a dos falantes do Português Brasileiro. A distribuição qualitativa das tipologias das disfluências comuns (p<0,001) também diferencia as variantes linguísticas. Enquanto não há um perfil de fluência de fala dos falantes do Português Europeu, para se estabelecer um diagnóstico de gagueira, os fonoaudiólogos podem utilizar em Portugal a mesma avaliação de fluência de fala utilizada no Brasil, principalmente no que se refere às disfluências comuns e gagas, tendo cuidado apenas no que se refere à velocidade de falaFundação de Amparo à Pesquisa do Estado de Minas Gerais (CDS – APQ – 02141-11)info:eu-repo/semantics/publishedVersio

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints. Individuals harboring alleles encoding three copies of α-tryptase had higher basal serum levels of tryptase and were more symptomatic than those with alleles encoding two copies, suggesting a gene-dose effect. Further, we found in two additional cohorts (172 individuals) that elevated basal serum tryptase levels were exclusively associated with duplication of α-tryptase-encoding sequence in TPSAB1, and affected individuals reported symptom complexes seen in our initial familial cohort. Thus, our findings link duplications in TPSAB1 with irritable bowel syndrome, cutaneous complaints, connective tissue abnormalities, and dysautonomia

Esterase-D and chromosome patterns in Central Amazon piranha (Serrasalmus rhombeus Linnaeus, 1766) from Lake Catalão

This study presents additional genetic data on piranha (Serrasalmus rhombeus Linnaeus, 1766) complex previously diagnosed due to the presence of distinct cytotypes 2n = 58 and 2n = 60. Three esterase-D enzyme loci (Est-D1, Est-D2 and Est-D3) were examined and complemented with chromosomal data from 66 piranha specimens collected from Lake Catalão. For all specimens the Est-D1 and Est-D2 loci were monomorphic. In contrast, the Est-D3 locus was polymorphic with genotypes and alleles being differentially distributed in the previously described cytotypes and served as the basis for detecting a new cytotype (2n = 60 B). In cytotype 2n = 58 the Est-D3 locus was also polymorphic and presented Mendelian allelic segregation with four genotypes (Est-D311, Est-D312, Est-D322 and Est-D333) out of six theoretically possible genotypes, presumably encoded by alleles Est-D31 (frequency = 0.237), EsT-D32 (0.710) and Est-D33 (0.053). A Chi-squared (χ2) test for Hardy-Weinberg equilibrium was applied to the Est-D3locus and revealed a genetic unbalance in cytotype 2n = 58, indicating the probable existence in the surveyed area of different stocks for that karyotypic structure. A silent null allele (Est-D30 with a high frequency (0.959) occurred exclusively in the 2n = 60 cytotype. On the other hand, the new cytotype 2n = 60 B described here for the first time was monomorphic for the presumably fixed Est-D33 allele. The data as a whole should contribute to the better understanding the rhombeus complex taxonomic status definitíon in the Central Amazon. © 2006 Sociedade Brasileira de Genética

Lawson criterion for ignition exceeded in an inertial fusion experiment

For more than half a century, researchers around the world have been engaged in attempts to achieve fusion ignition as a proof of principle of various fusion concepts. Following the Lawson criterion, an ignited plasma is one where the fusion heating power is high enough to overcome all the physical processes that cool the fusion plasma, creating a positive thermodynamic feedback loop with rapidly increasing temperature. In inertially confined fusion, ignition is a state where the fusion plasma can begin "burn propagation" into surrounding cold fuel, enabling the possibility of high energy gain. While "scientific breakeven" (i.e., unity target gain) has not yet been achieved (here target gain is 0.72, 1.37 MJ of fusion for 1.92 MJ of laser energy), this Letter reports the first controlled fusion experiment, using laser indirect drive, on the National Ignition Facility to produce capsule gain (here 5.8) and reach ignition by nine different formulations of the Lawson criterion