Perfil da fluência: análise comparativa entre gagueira desenvolvimental persistente familial e isolada

PURPOSE: to evaluate and compare the fluency between the familial and the sporadic persistent developmental stuttering, characterizing the typology and the frequency of the disfluencies, the speech rate and the severity of the stuttering. METHOD: 40 participants aged from 6 to 42 years old, divided in two groups with twenty participants in each one: Familial Persistent Developmental Stuttering and Sporadic Persistent Developmental Stuttering. The procedures used were: clinical and familial history, assessment of fluency and Stuttering Severity Instrument. RESULTS: there were no statistically significant differences between the groups regarding the frequency of stuttering like disfluencies, the flow of syllables and words per minute and the severity of stuttering. It was noted a tendency of the group with familial stuttering to show a bigger variability of the severity of stuttering, going from mild to very severe, whereas in the group with sporadic stuttering, the severity varied from mild to severe. CONCLUSION: this study represents the first effort to the characterization of the speech fluency profile of the subgroups of people who stutter, namely familial persistent developmental stuttering and sporadic persistent developmental stuttering. It is possible to conclude that the speech fluency profile of people who stutter, independently of the familial history, is similar. It is noteworthy that the occurrence of some stuttering-like disfluencies, monosyllabic word repetition, block and intrusion were different between groups.

Arbuscular mycorrhizal fungal communities and soil aggregation as affected by cultivation of various crops during the sugarcane fallow period

Management systems involving crop rotation, ground cover species and reduced soil tillage can improve the soil physical and biological properties and reduce degradation. The primary purpose of this study was to assess the effect of various crops grown during the sugarcane fallow period on the production of glomalin and arbuscular mycorrhizal fungi in two Latosols, as well as their influence on soil aggregation. The experiment was conducted on an eutroferric Red Latosol with high-clay texture (680 g clay kg-1) and an acric Red Latosol with clayey texture (440 g kg-1 clay) in Jaboticabal (São Paulo State, Brazil). A randomized block design involving five blocks and four crops [soybean (S), soybean/fallow/soybean (SFS), soybean/millet/soybean (SMS) and soybean/sunn hemp/soybean (SHS)] was used to this end. Soil samples for analysis were collected in June 2011. No significant differences in total glomalin production were detected between the soils after the different crops. However, total external mycelium length was greater in the soils under SMS and SHS. Also, there were differences in easily extractable glomalin, total glomalin and aggregate stability, which were all greater in the eutroferric Red Latosol than in the acric Red Latosol. None of the cover crops planted in the fallow period of sugarcane improved aggregate stability in either Latosol.

Rank Aggregation for Pattern Classifier Selection in Remote Sensing Images

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Unsupervised manifold learning using Reciprocal kNN Graphs in image re-ranking and rank aggregation tasks

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudos moleculares das regiões cromossômicas 7q31 e 7q34 em portadores de gagueira persistente familial

A gagueira é um distúrbio no ritmo da fala no qual o indivíduo sabe precisamente o que quer dizer, mas ao mesmo tempo é incapaz de dizê-lo devido à repetição involuntária, ao prolongamento ou à cessação do som. Este distúrbio da comunicação acomete cerca de 1 a 2 % da população mundial, e esta freqüência varia de acordo com a idade, sendo mais comum em crianças com idade pré-escolar (de 2,4 a 5%); e com o sexo (3 M : 1 F). Desde a década de 50 a gagueira vem sendo estudada por fonoaudiólogos e geneticistas. Vários fatores são tidos na literatura como de risco para o desenvolvimento da gagueira persistente, dentre os quais destacamos: idade, sexo, tipo e tempo de duração das disfluências, outros distúrbios fonoaudiológicos, características secundárias, fatores genéticos, comportamentos familiares e outros. Desta forma, a gagueira não deve ser tratada como uma entidade nosológica única, pois apresenta característica multidimensional e multifatorial. Dentre os principais fatores que sugerem etiologia genética para a gagueira destacamos: 1)Gagueira presente em agregados familiais; 2)Maior probabilidade de se desenvolver em indivíduos consanguíneos; 3)Semelhança dos traços fenotípicos característicos, independente da língua e cultura; 4)Maior concordância entre gêmeos monozigóticos do que em gêmeos dizigóticos. A triagem genômica em famílias de gagos provenientes do Paquistão, e dos Estados Unidos, Suécia e Israel indicaram uma possível ligação da gagueira com o cromossomo 7. O objetivo deste trabalho foi a análise de ligação nas regiões cromossômicas 7q31 e 7q34 através de marcadores microssatélites em 31 famílias brasileiras com gagueira persistente, com mais de um indivíduo gago em idade acima de 6 anos. Utilizou-se para a classificação da gagueira, o SSI aplicado por profissionais especializados nesta disfluência... (Resumo completo, clicar acesso eletrônico abaixo)

Perfil da fluência e frequência da gagueira do desenvolvimento persistente familial

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Role of peptide peptide interactions in aggregation: protonectins observed in equilibrium and replica exchange molecular dynamics simulations

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

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.

Evidence of a Feeding Aggregation of Humpback Whales (Megaptera novaeangliae) Around Kodiak Island, Alaska

The known summer feeding range of the North Pacific humpback whale (Megaptera novaeangliae) extends from California, along the coasts of Oregon, Washington, and Alaska, into the Bering Sea, along the Aleutian Islands, the Sea of Okhotsk (Tomilin 1957), and to northern Japan (Rice 1977). In feeding areas of the northeastern Pacific Ocean, humpback whale photoidentification research has been concentrated off California (Calambokidis et al. 1993), southeastern Alaska (Darling and McSweeney 1985, Baker et al. 1986, 1992; Perry et al. 1990), Prince William Sound in Alaska (von Ziegesar 1992), the Oregon and Washington coasts (Calambokidis et al. 1993), and British Columbia (Darling and McSweeney 1985; Graerne Ellis, unpublished data). Results of these photoidentification studies have documented that individual whales tend to return to the same general areas in subsequent years (Darling and McSweeney 1985, Baker et al. 1986, Calambokidis et a(. 1996, von Ziegesar et al. 1994).

Interaction of cationic water-soluble meso-tetrakis(4-N-methylpyridiniumyl)porphyrin (TMPyP) with ionic and nonionic micelles: aggregation and binding

The equilibrium of meso-tetrakis(4-N-methylpyridiniumyl)porphyrin (TMPyP) in aqueous solution in the presence of surfactants was studied by optical spectroscopic techniques and SAXS (small angle X-ray scattering). Anionic SDS (sodium dodecyl sulfate), zwitterionic HPS (N-hexadecyl-N,N-dimethyl-3-ammonio-1-propanesulfonate) and nonionic TRITON X-100 (t-octyl-phenoxypolyethoxyethanol), surfactants were used. TMPyP is characterized by a protonation equilibrium with a pK(a) around 1.0, associated with the diacid-free base transition, and a second pK(a) around 12.0 related with the transition between the free base and the monoanion form. Three independent species were observed for TMPyP at pH 6.0 as a function of SDS concentration: free TMPyP, TMPyP-SDS aggregates and porphyrin monomer bound to micelles. For HPS and TRITON X-100, the equilibrium of TMPyP as a function of pH is quite similar to that obtained in pure aqueous solution: no aggregation was observed, suggesting that electrostatic contribution is the major factor in the interaction between TMPyP and surfactants. SAXS data analysis demonstrated a prolate ellipsoidal shape for SDS micelles; no significant changes in shape and size were observed for SDS-TMPyP co-micelles. Moreover, the ionization coefficient, alpha, decreases with the increase of the porphyrin concentration, suggesting the ""screening"" of the anionic charge of SDS by the cationic porphyrin. These results are consistent with optical absorption, fluorescence and RLS (resonance light scattering) spectroscopies data, allowing to conclude that neutral surfactants present a smaller interaction with the cationic porphyrin as compared with an ionic surfactant. Therefore, the interaction of TMPyP with the ionic and nonionic surfactants is predominantly due to the electrostatic contribution. Copyright (c) 2008 Society of Porphyrins & Phthalocyanines.

Graphene modification with gold nanoparticles using the gas aggregation technique

Gold nanoparticles (Au-NPs) were deposited on single layer graphene (SLG) and few layers graphene (FLG) by applying the gas aggregation technique, previously adapted to a 4-gun commercial magnetron sputtering system. The samples were supported on SiO2 (280 nm)/Si substrates, and the influence of the applied DC power and deposition times on the nanoparticle-graphene system was investigated by Confocal Raman Microscopy. Analysis of the G and 2D bands of the Raman spectra shows that the integrated intensity ratio (I-2D/I-G) was higher for SLG than for FLG. For the samples produced using a sputtering power of 30W, the intensity (peak height) of the G and 2D bands increased with the deposition time, whereas for those produced applying 60W the peak heights of the G and 2D bands decreased with the deposition time. This behaviour was ascribed to the formation of larger Au-NPs aggregates in the last case. A significant increase of the Full Width Half Maximum (FWHM) of the G band for SLG and FLG was also observed as a function of the DC power and deposition time. Surprisingly, the fine details of the Raman spectra revealed an unintentional doping of SLG and FLG accompanying the increase of size and aggregation of the Au-NPs. (C) 2011 Elsevier B.V. All rights reserved.

Germline DNA copy number variation in familial and early-onset breast cancer

Introduction: Genetic factors predisposing individuals to cancer remain elusive in the majority of patients with a familial or clinical history suggestive of hereditary breast cancer. Germline DNA copy number variation (CNV) has recently been implicated in predisposition to cancers such as neuroblastomas as well as prostate and colorectal cancer. We evaluated the role of germline CNVs in breast cancer susceptibility, in particular those with low population frequencies (rare CNVs), which are more likely to cause disease." Methods: Using whole-genome comparative genomic hybridization on microarrays, we screened a cohort of women fulfilling criteria for hereditary breast cancer who did not carry BRCA1/BRCA2 mutations. Results: The median numbers of total and rare CNVs per genome were not different between controls and patients. A total of 26 rare germline CNVs were identified in 68 cancer patients, however, a proportion that was significantly different (P = 0.0311) from the control group (23 rare CNVs in 100 individuals). Several of the genes affected by CNV in patients and controls had already been implicated in cancer. Conclusions: This study is the first to explore the contribution of germline CNVs to BRCA1/2-negative familial and early-onset breast cancer. The data suggest that rare CNVs may contribute to cancer predisposition in this small cohort of patients, and this trend needs to be confirmed in larger population samples.

Olfactory impairment in familial ataxias

The main clinical manifestations of the spinocerebellar ataxias (SCAs) result from the involvement of the cerebellum and its connections. Cerebellar activity has been consistently observed in functional imaging studies of olfaction, but the anatomical pathways responsible for this connection have not yet been elucidated. Previous studies have demonstrated olfactory deficit in SCA2, Friedreich's ataxia and in small groups of ataxia of diverse aetiology. The authors used a validated version of the 16-item smell identification test from Sniffin' Sticks (SS-16) was used to evaluate 37 patients with genetically determined autosomal dominant ataxia, and 31 with familial ataxia of unknown genetic basis. This data was also compared with results in 106 Parkinson's disease patients and 218 healthy controls. The SS-16 score was significantly lower in ataxia than in the control group (p<0.001, 95% CI for beta=0.55 to 1.90) and significantly higher in ataxia than in Parkinson's disease (p<0.001, 95% CI for beta=-4.58 to -3.00) when adjusted for age (p=0.001, 95% CI for beta=-0.05 to -0.01), gender (p=0.19) and history of tobacco use (p=0.41). When adjusted for general cognitive function, no significant difference was found between the ataxia and control groups. This study confirms previous findings of mild hyposmia in ataxia, and further suggests this may be due to general cognitive deficits rather than specific olfactory problems.