Clinical and radiological profile of patients with spinal muscular atrophy type 4.

BACKGROUND AND PURPOSE: Spinal muscular atrophy (SMA) is the most important cause of motor neuron disease in childhood, and continues to represent the leading genetic cause of infant death. Adulthood-onset SMA (SMA type 4) is rare, with few isolated cases reported. The objective of the present study was to describe a cohort of patients with SMA type 4. METHODS: A cross-sectional study was conducted to characterize clinical, genetic, radiological and neurophysiological features of patients with adulthood-onset SMA. Correlation analysis of functional assessment with genetic, radiological and neurophysiological data was performed. RESULTS: Twenty patients with SMA type 4 were identified in a Brazilian cohort of 227 patients with SMA. The most common clinical symptom was limb-girdle muscle weakness, observed in 15 patients (75%). The most frequent neurological findings were absent tendon reflexes in 18 (90%) and fasciculations in nine patients (45%). Sixteen patients (80%) had the homozygous deletion of exon 7 in the SMN1 gene, with 12 patients (60%) showing four copies of the SMN2 gene. The functional scales Hammersmith Functional Motor Scale Expanded, Amyotrophic Lateral Sclerosis Functional Rating Scale Revised, Revised Upper Limb Module and Spinal Muscular Atrophy Functional Rating Scale, as well as the six-minute walk and the Time Up and Go tests showed a correlation with duration of disease. Motor Unit Number Index was correlated both with duration of disease and with performance in functional assessment. Radiological studies exhibited a typical pattern, with involvement of biceps femoris short head and gluteus minimus in all patients. CONCLUSION: This study represents the largest cohort of patients with SMA type 4 and provides functional, genetic, radiological and neurophysiological features that can be used as potential biomarkers for the new specific genetic therapies for SMA.

Influence of Pools and Riffles on Chironomidae Diversity in Headwater Streams of the Atlantic Forest.

Studies on mesohabitat scale have been used to shed light on the ecology and distribution of chironomid larvae in small streams. Thus, the objective of the present study was to examine the diversity and distribution of the Chironomidae assemblage on the mesohabitat scale in three streams located in different preserved areas of southeastern Brazil. In each stream, litter samples were obtained in the dry season of 2010 in ten pools and ten riffles with a Surber sampler (area 0.04 m(2); mesh size 0.21 mm). The abundance was similar among streams and between mesohabitats, while the estimated richness was highest in riffles. There was a difference in the composition of the Chironomidae assemblages between the mesohabitats, although the litter composition was similar between them, indicating the importance of current speed on the distribution of the taxa. The dispersion of the sample units (ß-diversity) of riffles and pools was similar, although it was different among the three streams. The results of this study provide further evidence of the importance of habitat heterogeneity within streams as a generator of diversity for Chironomidae in tropical lotic systems.

Colonisation of leaf litter by aquatic invertebrates in an Atlantic Forest stream.

Riparian vegetation along streams in the Atlantic Forest in Brazil contributes to the formation of a highly heterogeneous leaf litter in streambeds. To investigate the structure and composition of the aquatic invertebrate community during the process of leaf decomposition of two plant species present along the banks of the stream studied, 21 plastic mesh bags containing 2.5g (dry weight) of leaf matter from each species (Alchornea glandulosa (Vell) and Cabralea canjerana End. and Poeppig), for a total of 5.0g, were placed in the streambed. Three bags were removed after 3, 6, 9, 12, 24, 48 and 96 days. The taxonomic density was negatively correlated with the remaining weight. The high density of collector organisms, such as Chironomidae, Oligochaeta and Amphipoda, on the last day of incubation, probably occurred due to the increased amount of fine organic matter in the more advanced decomposition stages. The highest α diversity (Shannon-Wiener) values were observed for the 3rd and 96th days of the experiment, while the ß diversity values showed that these days presented the highest variation in the taxonomic composition, thus presenting a different faunistic composition. This study showed that the trophic structure and composition of aquatic invertebrates changes during the decomposition of leaf litter. The faunistic abundance and diversity observed in this study indicate that the entrance of material from plants growing along streams provides favorable conditions for the colonisation and establishment of invertebrates in lower-order streams, and thus points to the need to preserve riparian vegetation.

Loss of heterozygosity by mitotic recombination in diploid strain of Aspergillus nidulans in response to castor oil plant detergent

A recombinação somática em células diplóides heterozigotas pode atuar como agente promotor de neoplasias por induzir homozigose de genes deletéreos. Por meio desse processo, genes supressores de tumores podem ser completamente suprimidos em células recombinantes. O presente trabalho avaliou a genotoxicidade do detergente derivado do óleo da semente da mamona (Ricinus communis) em células diplóides heterozigotas do fungo filamentoso Aspergillus nidulans. Trabalhos anteriores avaliaram a aplicação dessa solução no tratamento de canais radiculares como líquido irrigador. O potencial recombinagênico desse composto foi estudado pela origem de células homozigotas para os marcadores nutricionais: riboA1, pabaA124, biA1, metA17 e piroA4. A solução, diluída em 1:40, 1:20 e 1:10, induziu alterações morfológicas e atraso no desenvolvimento dos conidióforos da linhagem UT448//UT196 e aumento nas freqüências de recombinação mitótica. Embora trabalhos anteriores relatem a atividade antimicrobiana da solução em estudo, nossos resultados evidenciam a citotoxicidade e o potencial recombinagênico dessa substância.

Loss of heterozygosity by mitotic recombination in diploid strain of Aspergillus nidulans in response to castor oil plant detergent.

Somatic recombination in heterozygous diploid cells may be a promotional agent of neoplasms by inducing homozygosity of defective genes. Tumor suppressor genes may in this way be completely suppressed in recombinant cells. In this work, the genotoxic effects of detergent derived from the castor oil plant (Ricinus communis) in heterozygous diploid cells of Aspergillus nidulans are evaluated. Previous studies have evaluated the application of this substance in endodontic treatments as an irrigating solution. The recombinogenic potential of the compound has been studied through the production of homozygous cells for nutritional markers riboA1, pabaA124, biA1, methA17, and pyroA4. Detergent was diluted to 1:10, 1:20, and 1:40, and morphologic alterations, delay in conidiophore development, and mitotic recombination occurrence were reported for the three dilutions. Although past studies have demonstrated the antimicrobial action of the detergent under analysis, our results revealed its cytotoxic effects and recombinogenic potential.

Oclusöes venosas retinianas: fatores de risco / Retinal venous oclusion: risk factors

Estudou-se no presente trabalho, os fatores de risco em relaçäo às oclusöes venosas retinianas. Os fatores de risco mais frequentes foram: hipertensäo arterial sistêmica, hipermetropia e glaucoma crônico simples. O diabetes mellitus foi uma associaçäo muito pouco frequente