A síndrome de tremor e ataxia associada ao X frágil (FXTAS)

FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease.A FXTAS (síndrome de tremor e ataxia associada ao X frágil) é uma doença neurodegenerativa de início tardio que afeta principalmente homens acima dos 50 anos de idade, portadores de pré-mutação do gene FMR1. A mutação completa desse gene é responsável pela síndrome do cromossomo X frágil (SXF), a causa mais comum de deficiência mental herdada. Indivíduos afetados pela FXTAS geralmente apresentam tremor de intenção e ataxia de marcha que podem estar associados a sinais radiológicos ou neuropatológicos específicos. Outras características comumente observadas são parkinsonismo, declínio cognitivo, neuropatia periférica e disfunções autonômicas. Quase uma década após sua caracterização clínica, a FXTAS é mal conhecida por médicos no Brasil. Esta revisão apresenta o conhecimento atual sobre os aspectos clínicos, genéticos e diagnósticos da síndrome.FAPESP - Center for the Study of Human Genom

Distribuição do sistema radicular da cana-de-açúcar irrigada com efluente de esgoto doméstico por gotejamento subsuperficial

Irrigation with domestic sewage effluent (DSE) has been recommended by subsurface dripping, as it can obtain a high rate of irrigation efficiency and faster use of salts in comparison with other irrigation methods. The study aimed at evaluating the area, the length and the effective depth of the root system of sugarcane irrigated with DSE by subsurface drip system and with different irrigation rates at depths of 0.00-0.20, 0.20-0.40, 0.40-0.60 and 0.60-0.80m. The experiment was carried out in the municipality of Piracicaba, in the state of São Paulo (SP), Brazil, in a sugarcane area irrigated with DSE in a completely randomized blocks set up in furrows, with three replications and four treatments, which are: one area without irrigation (AWI) and three irrigated areas meeting 50% (T50%), 100% (T100%) and 200% (T200%) of the crop's water need between each round of irrigation. T100% and T200% provided smaller areas and lengths of roots in the two deepest layers, as compared to AWI and T50%, which stimulated the development of deeper roots due to the water stress. TWI, T100% and T200% presented 80% of the roots up to a depth of 0.40m and T50% treatment presented 76.43% of roots total.A irrigação com efluente de esgoto doméstico (EED) tem sido recomendada para aplicação por gotejamento subsuperficial, podendo-se obter elevados índices de eficiência de irrigação e mais rápido aproveitamento dos sais em comparação com outros métodos de irrigação. O trabalho objetivou avaliar a área de raiz, o comprimento e a profundidade efetiva do sistema radicular da cana-de-açúcar irrigada com EED aplicado por gotejamento subsuperficial e com diferentes lâminas de irrigação, nas camadas de solo de 0,00-0,20; 0,20-0,40; 0,40-0,60 e 0,60-0,80 m. O experimento foi realizado em Piracicaba-SP, numa área de cana-de-açúcar irrigada com EED, em um delineamento de blocos casualizados dispostos no esquema de faixas, com três repetições e quatro tratamentos, sendo estes: uma área sem irrigação (TSI) e três áreas irrigadas, atendendo a 50% (T50%), 100% (T100%) e 200% (T200%) da necessidade hídrica da cultura entre cada turno de rega. O T100% e o T200% proporcionaram menores áreas e comprimento de raízes nas duas camadas mais profundas, quando comparados ao TSI e ao T50%, que devido ao estresse hídrico, proporcionado à cultura, estimularam o desenvolvimento de raízes mais profundas. O TSI, T100% e T200% apresentaram 80% das raízes até 0,40 m e, nessa mesma profundidade, o tratamento T50% apresentou 76,43% do total de raízes.64765

Sinusite fúngica: uma análise clínica em nosso meio

OBJECTIVE: To report the microbiological, histopathological, radiological, and endoscopic findings associated with clinical observations in patients with fungal sinusitis.MATERIALS AND METHODS: A prospective analysis of 829 cases compatible with chronic sinusitis was carried out. Diagnosis of fungal sinusitis was cofirmed in 33patients through computed tomography and nasal endoscopy associated with clinical, laboratorial, microbiological and histopathological findings. These patients were classified as having one of the following: fungus ball sinusitis, alergic fungal sinusitis , acute invasive sinusitus or indolent or slowly invasive sinusitus.RESULTS: 18 patients presented with fungus ball sinusitis, 13 matched the criteria for AFS and two for slowly invasive fungus sinusitis. There were no occurences of fulminant fungal sinusitis. Clinical cure was obtained in 24 patients. Recidivation took place in four alergic fungal sinusitis patients.CONCLUSIONS: Fungal sinusitis presents itself in many different ways and can be treated with a large variety of therapeutical techniques. Therefore it demands not onlya diagnosis of the etiology of the fungus, but also the identification of the sort of sinusitis, through an association of nasal endoscopy, computed tomography, macroscopic examination of the secretion, direct exam, and culture in appropriate medium.OBJETIVO: Relatar os achados microbiológicos, histopatológicos, radiológicos e endoscópicos associados às observações clínicas de pacientes portadores de sinusite fúngica.MATERIAIS E MÉTODOS: Foi realizada uma análise prospectiva de 829 casos compatíveis com sinusopatia crônica. De acordo com os achados obtidos nos examesde tomografia computadorizada e endoscopia nasal, juntamente com as análises clínicas, laboratoriais, microbiológicas e histopatológicas, atentou-se para o diagnóstico de sinusite fúngica em 33 pacientes da série, os quais foram enquadrados dentro de uma das seguintes classificações: bola fúngica, sinusite fúngica alérgica , sinusite invasiva aguda (fulminante) ou sinusite indolente ou lentamente invasiva.RESULTADOS: 18 pacientes apresentaram-se com bola fúngica, 13 com critérios para sinusite fúngica alérgica. Sinusite lentamente invasiva foi identificada em doiscasos e não houve nenhuma ocorrência de sinusite fúngica fulminante. Cura clínica foi obtida em 24 pacientes. Houve recidiva da sinusite fúngica alérgica em quatro casos.CONCLUSÕES: As várias formas de apresentação e de abordagem terapêutica da sinusite fúngica exigem, além do diagnóstico etiológico fúngico, a identificação dotipo de sinusite fúngica através da associação de endoscopia nasal, tomografia computadorizada, exame macroscópico da secreção, exame direto e cultura em meio adequado

Liquid polystyrene: a room-temperature photocurable soft lithography compatible pour-and-cure-type polystyrene

Materials matter in microfluidics. Since the introduction of soft lithography as a prototyping technique and polydimethylsiloxane (PDMS) as material of choice the microfluidics community has settled with using this material almost exclusively. However{,} for many applications PDMS is not an ideal material given its limited solvent resistance and hydrophobicity which makes it especially disadvantageous for certain cell-based assays. For these applications polystyrene (PS) would be a better choice. PS has been used in biology research and analytics for decades and numerous protocols have been developed and optimized for it. However{,} PS has not found widespread use in microfluidics mainly because{,} being a thermoplastic material{,} it is typically structured using industrial polymer replication techniques. This makes PS unsuitable for prototyping. In this paper{,} we introduce a new structuring method for PS which is compatible with soft lithography prototyping. We develop a liquid PS prepolymer which we term as {"}Liquid Polystyrene{"} (liqPS). liqPS is a viscous free-flowing liquid which can be cured by visible light exposure using soft replication templates{,} e.g.{,} made from PDMS. Using liqPS prototyping microfluidic systems in PS is as easy as prototyping microfluidic systems in PDMS. We demonstrate that cured liqPS is (chemically and physically) identical to commercial PS. Comparative studies on mouse fibroblasts L929 showed that liqPS cannot be distinguished from commercial PS in such experiments. Researchers can develop and optimize microfluidic structures using liqPS and soft lithography. Once the device is to be commercialized it can be manufactured using scalable industrial polymer replication techniques in PS - the material is the same in both cases. Therefore{,} liqPS effectively closes the gap between {"}microfluidic prototyping{"} and {"}industrial microfluidics{"} by providing a common material

Natural Changes in Brain Temperature Underlie Variations in Song Tempo during a Mating Behavior

The song of a male zebra finch is a stereotyped motor sequence whose tempo varies with social context – whether or not the song is directed at a female bird – as well as with the time of day. The neural mechanisms underlying these changes in tempo are unknown. Here we show that brain temperature recorded in freely behaving male finches exhibits a global increase in response to the presentation of a female bird. This increase strongly correlates with, and largely explains, the faster tempo of songs directed at a female compared to songs produced in social isolation. Furthermore, we find that the observed diurnal variations in song tempo are also explained by natural variations in brain temperature. Our findings suggest that brain temperature is an important variable that can influence the dynamics of activity in neural circuits, as well as the temporal features of behaviors that some of these circuits generate

Rarity of monodominance in hyperdiverse Amazonian forests.

Tropical forests are known for their high diversity. Yet, forest patches do occur in the tropics where a single tree species is dominant. Such "monodominant" forests are known from all of the main tropical regions. For Amazonia, we sampled the occurrence of monodominance in a massive, basin-wide database of forest-inventory plots from the Amazon Tree Diversity Network (ATDN). Utilizing a simple defining metric of at least half of the trees ≥ 10 cm diameter belonging to one species, we found only a few occurrences of monodominance in Amazonia, and the phenomenon was not significantly linked to previously hypothesized life history traits such wood density, seed mass, ectomycorrhizal associations, or Rhizobium nodulation. In our analysis, coppicing (the formation of sprouts at the base of the tree or on roots) was the only trait significantly linked to monodominance. While at specific locales coppicing or ectomycorrhizal associations may confer a considerable advantage to a tree species and lead to its monodominance, very few species have these traits. Mining of the ATDN dataset suggests that monodominance is quite rare in Amazonia, and may be linked primarily to edaphic factors

Convalescent plasma for COVID-19 in hospitalised patients : an open-label, randomised clinical trial

Background: The effects of convalescent plasma (CP) therapy in hospitalised patients with coronavirus disease 2019 (COVID-19) remain uncertain. This study investigates the effect of CP on clinical improvement in these patients. Methods: This is an investigator-initiated, randomised, parallel arm, open-label, superiority clinical trial. Patients were randomly (1:1) assigned to two infusions of CP plus standard of care (SOC) or SOC alone. The primary outcome was the proportion of patients with clinical improvement 28 days after enrolment. Results: A total of 160 (80 in each arm) patients (66.3% critically ill, 33.7% severely ill) completed the trial. The median (interquartile range (IQR)) age was 60.5 (48–68) years; 58.1% were male and the median (IQR) time from symptom onset to randomisation was 10 (8–12) days. Neutralising antibody titres >1:80 were present in 133 (83.1%) patients at baseline. The proportion of patients with clinical improvement on day 28 was 61.3% in the CP+SOC group and 65.0% in the SOC group (difference −3.7%, 95% CI −18.8–11.3%). The results were similar in the severe and critically ill subgroups. There was no significant difference between CP+SOC and SOC groups in pre-specified secondary outcomes, including 28-day mortality, days alive and free of respiratory support and duration of invasive ventilatory support. Inflammatory and other laboratory marker values on days 3, 7 and 14 were similar between groups. Conclusions: CP+SOC did not result in a higher proportion of clinical improvement on day 28 in hospitalised patients with COVID-19 compared to SOC alone