Outcome measurement instruments in Rett syndrome: A systematic review.

OBJECTIVE: The aim of the study was to identify and characterize outcome measures for objective and subjective assessment in persons with Rett syndrome (RS). METHODS: A systematic review was conducted consulting the EBSCO, Cochrane, Web of Science, Scielo, MEDLINE and PsycINFO databases for published studies describing the use of patient-reported outcome measures (PROMs) and other outcome measures in persons with RS. Validation studies and observational studies were included. The PROMs were first described, and then the measurement properties were evaluated using predefined criteria according to the COnsensus-based Standards for the selection of health Measurement Instruments (COSMIN). The outcome measures were then grouped according to the International Classification of Functioning, Disability and Health (ICF) to establish a relationship between outcome measures and ICF domains. RESULTS: Twenty out of 2327 articles were appraised, and seventeen different outcome measures were identified and described. Ten outcome measures corresponded to evaluation questionnaires, while the remaining seven assessed functional outcomes: walking distance, physical activity level and ability to interact visually. A relation between these outcome measures that assess RS and the ICF allows understanding that most of the instruments (fifteen) include the assessment of activity limitations. CONCLUSIONS: The findings of this study seem to be promising for their use by clinicians and researchers, although they have methodological limitations. The accuracy and quality of these individual outcome measures should continue to be assessed in an attempt to gather a consensus on the best tools used in RS.

Publisher Correction: Characterization of nitrogen doped graphene bilayers synthesized by fast, low temperature microwave plasma-enhanced chemical vapour deposition.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Characterization of nitrogen doped grapheme bilayers synthesized by fast, low temperature microwave plasma-enhanced chemical vapour deposition.

New techniques to manipulate the electronic properties of few layer 2D materials, unveiling new physical phenomena as well as possibilities for new device applications have brought renewed interest to these systems. Therefore, the quest for reproducible methods for the large scale synthesis, as well as the manipulation, characterization and deeper understanding of these structures is a very active field of research. We here report the production of nitrogen doped bilayer graphene in a fast single step (2.5 minutes), at reduced temperatures (760 °C) using microwave plasma-enhanced chemical vapor deposition (MW-PECVD). Raman spectroscopy confirmed that nitrogen-doped bilayer structures were produced by this method. XPS analysis showed that we achieved control of the concentration of nitrogen dopants incorporated into the final samples. We have performed state of the art parameter-free simulations to investigate the cause of an unexpected splitting of the XPS signal as the concentration of nitrogen defects increased. We show that this splitting is due to the formation of interlayer bonds mediated by nitrogen defects on the layers of the material. The occurrence of these bonds may result in very specific electronic and mechanical properties of the bilayer structures.

Testing thermal comfort of trekking boots: an objective and subjective evaluation.

The study of the thermal comfort of the feet when using a specific type of shoe is of paramount importance, in particular if the main goal of the study is to attend to the needs of users. The main aim of this study was to propose a test battery for thermal comfort analysis and to apply it to the analysis of trekking boots. Methodologically, the project involves both objective and subjective evaluations. An objective evaluation of the thermal properties of the fabrics used in the boots was developed and applied. In addition, the thermal comfort provided when using the boots was also assessed both subjective and objectively. The evaluation of the thermal comfort during use, which was simulated in a laboratory environment, included the measurement of the temperature and moisture of the feet. The subjective assessment was performed using a questionnaire. From the results obtained, it was possible to define an optimal combination of fabrics to apply to trekking boots by considering the provided thermal insulation, air permeability and wicking. The results also revealed that the subjective perception of thermal comfort appears to be more related to the increase in temperature of the feet than to the moisture retention inside the boot. Although the evaluation of knits used in the boots indicated that a particular combination of fibres was optimal for use in the inner layer, the subjective and objective evaluation of thermal comfort revealed that the evaluation provided by users did not necessarily match the technical assessment data. No correlation was observed between the general comfort and specific thermal comfort assessments. Finally, the identification of thermal discomfort by specific foot areas would be useful in the process of designing and developing boots.

Malakoplakia after renal transplantation in the current era of immunosuppressive therapy: case report and literature review.

Malakoplakia is a rare chronic granulomatous disease of unknown cause. It is thought to be caused by an acquired bactericidal defect of macrophages. Malakoplakia is associated with chronic infections and immunosuppression. Although it occurs mainly in the urinary tract, it has already been reported in almost every organ system. The isolation of bacteria, especially Escherichia coli, is common in malakoplakia patients. Here, we present a case of primary cutaneous malakoplakia in a kidney transplant recipient who had been taking prednisone, tacrolimus, and mycophenolate. Culture of a lesion grew Burkholderia cepacia complex. Treatment with high doses of trimethoprim-sulfamethoxazole was successful. We also present a systematic review of the literature, identifying 4 previously reported cases of malakoplakia after renal transplantation under similar immunosuppressive therapy, most occurring in the urinary tract or perineum and following benign courses to cure. Data in the literature suggest that malakoplakia has become even rarer since changes were made in the immunosuppressive therapy employed after kidney transplantation.

Ergonomic tridimensional analysis: critical ergonomic factors identification in a commercial environmental.

The Ergonomic tridimensional analysis (ETdA) was developed to be used as an auxiliary tool on the ergonomic intervention. It was specially designed for commercial areas with free circulation of people. Due to that, the client, the third ETdA dimension, becomes an important element and their opinions relevant in the ergonomic analysis. The remains two ETdA dimensions, professionals and analyst, play an identical role as in the traditional occupational ergonomic analysis. For each of these dimensions, specific observation tools were assembled: an ETdA questionnaire, an evaluation form and a checklist for direct and indirect observations. The variables that allow the ETdA operability are identified as Ergonomic Factors (EFs). A case study is presented identifying, for each dimension, the critical EFs. This will allow the design of the weighting table, where the influence of each dimensions results is measured, stressing the important role of clients on ergonomic issues.

Iliopsoas abscess and spondylodiscitis by Staphylococcus aureus: successful clinical treatment.

Although pyogenic abscess of the iliopsoas muscle is considered an uncommon condition, its incidence is on the increase. This abscess may be primary if it occurs without a causal factor; more frequently, it is secondary to gastrointestinal or genitourinary affections, or trauma. The main aetiological agents differ among primary (Staphylococcus aureus) and secondary (Escherichia coli, Klebsiella spp, Streptococcus spp, Bacteroides spp) abscess. We report the case of a 64-year-old man with iliopsoas abscess by S. aureus associated with spondylodiscitis in lumbar vertebrae (L4-L5). Our aim is to emphasize the successful treatment with exclusive intravenous antimicrobials, and highlight the role of control through imaging studies and laboratory tests.

Cdc42p controls yeast-cell shape and virulence of Paracoccidioides brasiliensis.

Paracoccidioides brasiliensis is characterized by a multiple budding phenotype and a polymorphic cell growth, leading to the formation of cells with extreme variations in shape and size. Since Cdc42 is a pivotal molecule in establishing and maintaining polarized growth for diverse cell types, as well as during pathogenesis of certain fungi, we evaluated its role during cell growth and virulence of the yeast-form of P. brasiliensis. We used antisense technology to knock-down PbCDC42's expression in P. brasiliensis yeast cells, promoting a decrease in cell size and more homogenous cell growth, altering the typical polymorphism of wild-type cells. Reduced expression levels also lead to increased phagocytosis and decreased virulence in a mouse model of infection. We provide genetic evidences underlying Pbcdc42p as an important protein during host-pathogen interaction and the relevance of the polymorphic nature and cell size in the pathogenesis of P. brasiliensis.

Vascular permeability, neutrophil migration and edematogenic effects induced by the latex of Cryptostegia grandiflora.

Inflammatory responses have been described as occurring after exposure to some latex materials. In this study pro-inflammatory activity in the latex of Cryptostegia grandiflora was investigated. The soluble proteins of the latex (CgLP) were isolated from the whole latex and evaluated by in vivo assays. CgLP induced strong inflammatory activity mediated by neutrophil migration, enlarging vascular permeability and increasing myeloperoxidase activity locally in rats. CgLP-induced inflammation was observed in peritonitis, paw edema and air push models. In addition, CgLP caused hyperemia in a healing model. The peritonitis effect was lost when CgLP was previously boiled suggesting the involvement of pro-inflammatory proteins. Thioglycollate increased the neutrophil migration induced by CgLP, but not by fMLP. Mast cell depletion provoked by 40/80 compound did not modify the course of inflammation triggered by CgLP, being similar to fMLP, which suggested that neutrophil migration was induced by direct mechanism mediated by macrophages. Neutrophil migration stimulated by CgLP was strongly inhibited by Dexamethasone and to a lesser extent by Thalidomide, indicating the involvement of cytokines in mediating neutrophil infiltration. Celecoxib and Indomethacin were inhibitory suggesting the involvement of prostaglandins. Cimetidine was effective only in the initial phase of edema. PCA 4248 was ineffective. It is concluded that the latex of C. grandiflora is a potent inflammatory fluid, and also that laticifer proteins may be implicated in this process.

Confinement and surface effects in B and P doping of silicon nanowires.

Several experimental groups have achieved effective n- and p-type doping of silicon nanowires (SiNWs). However, theoretical analyses on ultrathin SiNWs suggest that dopants tend to segregate to their surfaces, where they would combine with defects such as dangling bonds (DB), becoming electronically inactive. Using fully ab initio calculations, we show that the differences in formation energies among surface and core substitutional sites decrease rapidly as the diameters of the wires increase, indicating that the dopants will be uniformly distributed. Moreover, occurrence of the electronically inactive impurity/DB complex rapidly becomes less frequent for NWs of larger diameters. We also show that the high confinement in the ultrathin SiNWs causes the impurity levels to be deeper than in the silicon bulk, but our results indicate that for NWs of diameters larger than approximately 3 nm the impurity levels recover bulk characteristics. Finally, we show that different surfaces will lead to different dopant properties in the gap.

Saccharomyces cerevisiae signature genes for predicting nitrogen deficiency during alcoholic fermentation.

Genome-wide analysis of the wine yeast strain Saccharomyces cerevisiae PYCC4072 identified 36 genes highly expressed under conditions of low or absent nitrogen in comparison with a nitrogen-replete condition. Reverse transcription-PCR analysis for four of these transcripts with this strain and its validation with another wine yeast strain underlines the usefulness of these signature genes for predicting nitrogen deficiency and therefore the diagnosis of wine stuck/sluggish fermentations.

Towards a molecular genetic system for the pathogenic fungus Paracoccidioides brasiliensis.

We herein report the development of a molecular toolbox for the dimorphic fungus Paracoccidioides brasiliensis, specifically a more efficient transformation and a gene expression system. We evaluated several parameters that influence Agrobacterium tumefaciens-mediated transformation (ATMT), such as co-cultivation conditions and host cell susceptibility. Our results show that cellular recovery and air drying of A. tumefaciens:P. brasiliensis mixtures are essential for ATMT. Overall, our data indicate a transformation efficiency of 78+/-9 transformants/co-cultivation (5+/-1 transformants/10(6) target cells). P. brasiliensis GFP-expressing isolates were also constructed by insertion of the GFP gene under the control of several fungal promoters. RT-PCR, epifluorescence microscopy and flow cytometry analysis revealed Gfp visualization for all studied promoters but without significant differences in fluorescence and gene expression levels. Moreover, we present evidence for the occurrence of random single gene copy integration per haploid nuclei and the generation of homokaryon progeny, relevant for the future use in targeted mutagenesis and linking mutations to phenotypes.

Transcriptional response of Saccharomyces cerevisiae to different nitrogen concentrations during alcoholic fermentation.

Gene expression profiles of a wine strain of Saccharomyces cerevisiae PYCC4072 were monitored during alcoholic fermentations with three different nitrogen supplies: (i) control fermentation (with enough nitrogen to complete sugar fermentation), (ii) nitrogen-limiting fermentation, and (iii) the addition of nitrogen to the nitrogen-limiting fermentation (refed fermentation). Approximately 70% of the yeast transcriptome was altered in at least one of the fermentation stages studied, revealing the continuous adjustment of yeast cells to stressful conditions. Nitrogen concentration had a decisive effect on gene expression during fermentation. The largest changes in transcription profiles were observed when the early time points of the N-limiting and control fermentations were compared. Despite the high levels of glucose present in the media, the early responses of yeast cells to low nitrogen were characterized by the induction of genes involved in oxidative glucose metabolism, including a significant number of mitochondrial associated genes resembling the yeast cell response to glucose starvation. As the N-limiting fermentation progressed, a general downregulation of genes associated with catabolism was observed. Surprisingly, genes encoding ribosomal proteins and involved in ribosome biogenesis showed a slight increase during N starvation; besides, genes that comprise the RiBi regulon behaved distinctively under the different experimental conditions. Here, for the first time, the global response of nitrogen-depleted cells to nitrogen addition under enological conditions is described. An important gene expression reprogramming occurred after nitrogen addition; this reprogramming affected genes involved in glycolysis, thiamine metabolism, and energy pathways, which enabled the yeast strain to overcome the previous nitrogen starvation stress and restart alcoholic fermentation.

Sugar utilization patterns and respiro-fermentative metabolism in the baker's yeast Torulaspora delbrueckii.

The highly osmo- and cryotolerant yeast species Torulaspora delbrueckii is an important case study among the non-Saccharomyces yeast species. The strain T. delbrueckii PYCC 5321, isolated from traditional corn and rye bread dough in northern Portugal, is considered particularly interesting for the baking industry. This paper reports the sugar utilization patterns of this strain, using media with glucose, maltose and sucrose, alone or in mixtures. Kinetics of growth, biomass and ethanol yields, fermentation and respiration rates, hydrolase activities and sugar uptake rates were used to infer the potential applied relevance of this yeast in comparison to a conventional baker's strain of Saccharomyces cerevisiae. The results showed that both maltase and maltose transport in T. delbrueckii were subject to glucose repression and maltose induction, whereas invertase was subject to glucose control but not dependent on sucrose induction. A comparative analysis of specific sugar consumption rates and transport capacities suggests that the transport step limits both glucose and maltose metabolism. Specific rates of CO(2) production and O(2) consumption showed a significantly higher contribution of respiration to the overall metabolism in T. delbrueckii than in S. cerevisiae. This was reflected in the biomass yields from batch cultures and could represent an asset for the large-scale production of the former species. This work contributes to a better understanding of the physiology of a non-conventional yeast species, with a view to the full exploitation of T. delbrueckii by the baking industry.

Genome size and ploidy of Paracoccidioides brasiliensis reveals a haploid DNA content: flow cytometry and GP43 sequence analysis.

The aim of this study was to evaluate genome size and ploidy of the dimorphic pathogenic fungus Paracoccidioides brasiliensis. The cell cycle analysis of 10 P. brasiliensis isolates by flow cytometry (FCM) revealed a genome size ranging from 26.3+/-0.1Mb (26.9+/-0.1fg) to 35.5+/-0.2Mb (36.3+/-0.2fg) per uninucleated yeast cell. The DNA content of conidia from P. brasiliensis ATCC 60855-30.2+/-0.8Mb (30.9+/-0.8fg) -showed no significant differences with the yeast form, possibly excluding the occurrence of ploidy shift during morphogenesis. The ploidy of several P. brasiliensis isolates was assessed by comparing genome sizing by FCM with the previously described average haploid size obtained from electrophoretic karyotyping. The analysis of intra-individual variability of a highly polymorphic P. brasiliensis gene, GP43, indicated that only one allele seems to be present. Overall, the results showed that all analysed isolates presented a haploid, or at least aneuploid, DNA content and no association was detected between genome size/ploidy and the clinical-epidemiological features of the studied isolates. This work provides new knowledge on P. brasiliensis genetics/genomics, important for future research in basic cellular/molecular mechanisms and for the development/design of molecular techniques in this fungus.

A twenty-year survey of dermatophytoses in Braga, Portugal.

BACKGROUND: Modifications in social habits together with the increase of emigration have contributed not only to increased dermatophytoses but also to an altered etiology. During the last few years, Braga has suffered a radical change from a rural to a cosmopolitan life-style. METHODS: A statistical study of dermatophytoses and the etiology of their causative agents was performed by a retrospective survey carried out among patients of Hospital de São Marcos, Braga, Portugal, from 1983-2002. In this study, a total of 10,003 patients were analyzed. RESULTS: Over this period the frequency of dermatophytoses, as defined by the recovery of a dermatophyte in culture, was found to be 23.6%, whereas nondermatophytic infections accounted for 7.0%. Analysis of the clinical forms and the isolated fungi supports that the dermatophyte species have a predilection for certain body areas (P

New insights into the cell cycle profile of Paracoccidioides brasiliensis.

The present work focuses on the analysis of cell cycle progression of Paracoccidioides brasiliensis yeast cells under different environmental conditions. We optimized a flow cytometric technique for cell cycle profile analysis based on high resolution measurements of nuclear DNA. Exponentially growing cells in poor-defined or rich-complex nutritional environments showed an increased percentage of daughter cells in accordance with the fungus' multiple budding and high growth rate. During the stationary growth-phase cell cycle progression in rich-complex medium was characterized by an accumulation of cells with higher DNA content or pseudohyphae-like structures, whereas in poor-defined medium arrested cells mainly displayed two DNA contents. Furthermore, the fungicide benomyl induced an arrest of the cell cycle with accumulation of cells presenting high and varying DNA contents, consistent with this fungus' unique pattern of cellular division. Altogether, our findings seem to indicate that P. brasiliensis may possess alternative control mechanisms during cell growth to manage multiple budding and its multinucleate nature.

Growth and fermentation patterns of Saccharomyces cerevisiae under different ammonium concentrations and its implications in winemaking industry.

AIMS: To study the effects of assimilable nitrogen concentration on growth profile and on fermentation kinetics of Saccharomyces cerevisiae. METHODS AND RESULTS: Saccharomyces cerevisiae was grown in batch in a defined medium with glucose (200 g l(-1)) as the only carbon and energy source, and nitrogen supplied as ammonium sulphate or phosphate forms under different concentrations. The initial nitrogen concentration in the media had no effect on specific growth rates of the yeast strain PYCC 4072. However, fermentation rate and the time required for completion of the alcoholic fermentation were strongly dependent on nitrogen availability. At the stationary phase, the addition of ammonium was effective in increasing cell population, fermentation rate and ethanol. CONCLUSIONS: The yeast strain required a minimum of 267 mg N l(-1) to attain complete dryness of media, within the time considered for the experiments. Lower levels were enough to support growth, although leading to sluggish or stuck fermentation. SIGNIFICANCE AND IMPACT OF THE STUDY: The findings reported here contribute to elucidate the role of nitrogen on growth and fermentation performance of wine yeast. This information might be useful to the wine industry where excessive addition of nitrogen to prevent sluggish or stuck fermentation might have a negative impact on wine stability and quality.

Tratamento das infecções em pacientes com pancitopenia secundária e tratamento citorredutor / Treatment of infections in patients with pancytopenia resulting from cytoreductive treatment

Febre de etiologia desconhecida é a causa mais freqüente de internação hospitalar de pacientes neutropênicos em quimioterapia. O paciente é, em geral, oligossintomático, e a avaliação inicial deve incluir história e exames físicos completos e minuciosos, além de exames laboratoriais, procurando identificar a etiologia da febre e complicações decorrentes da quimioterapia. O tratamento com antibióticos de largo espectro deve ser iniciado prontamente, e o esquema terapêutico reavaliado 72 h, depois, com base nos estudos microbiológicos. No texto, discorremos sobre o diagnóstico da neutropenia febril, suas particularidades e o manejo do paciente

Activity of essential oils from Mediterranean Lamiaceae species against food spoilage yeasts.

The essential oils from aerial parts of Melissa officinalis, Lavandula angustifolia, Salvia officinalis, and Mentha piperita were analyzed by gas chromatography and gas chromatography-mass spectrometry. Their antimicrobial activities were evaluated against five food spoilage yeasts, Torulaspora delbrueckii, Zygosaccharomyces bailii, Pichia membranifaciens, Dekkera anomala, and Yarrowia lipolytica. Saccharomyces cerevisiae was also used as a reference. The oils were preliminarily screened by a disc diffusion technique, with the most active being the oil from M. officinalis. MICs were determined by the broth dilution method, and the main components of the oils were also tested by this method. The essential oil of M. officinalis at 500 microg/ml completely inhibited the growth of all yeast species. The main component of the oil of M. officinalis is citral (neral plus geranial) (58.3%), which showed a marked fungitoxic effect, contributing to its high activity.