Tetanus. A Review of 54 Cases

O tétano continua a ser uma doença frequente e de mortalidade elevada que envolve particularmente os doentes mais idosos. Em face desta realidade, estudaram-se 54 casos tratados em cuidados intensivos entre 1983 e 1991. Concluí-se ter sido fundamental para a redução da mortalidade verificada neste período, além do uso de medidas de suporte ventilatório, a utilização de novos fármacos que permitiram uma sedação e um relaxamento muscular mais eficaz e também um melhor controlo da hiperactividade do sistema nervoso autónomo

Early reserve effects linked to small home ranges of a commercial fish, Diplodus sargus, Sparidae

Studies that combine both the ecological responses of marine species and protection measures with movement patterns and habitat use are of major importance in order to better understand the performance of marine protected areas (MPA) and how species respond to their implementation. However, few studies have assessed MPA performance by relating local individual movement patterns and the observed reserve effects. In this study, we combined acoustic telemetry with abundance estimates to study the early effects of a recently established small coastal MPA on the local populations of white seabream. The results show that even small, recently established coastal MPAs can increase the abundance and biomass of commercial fish species, provided that target species have small home ranges and exhibit high site fidelity

A comparison of approaches to account for uncertainty in analysis of imputed genotypes

The availability of extensively genotyped reference samples, such as "The HapMap" and 1,000 Genomes Project reference panels, together with advances in statistical methodology, have allowed for the imputation of genotypes at single nucleotide polymorphism (SNP) markers that are untyped in a cohort or case-control study. These imputation procedures facilitate the interpretation and meta-analyses of genome-wide association studies. A natural question when implementing these procedures concerns how best to take into account uncertainty in imputed genotypes. Here we compare the performance of the following three strategies: least-squares regression on the "best-guess" imputed genotype; regression on the expected genotype score or "dosage"; and mixture regression models that more fully incorporate posterior probabilities of genotypes at untyped SNPs. Using simulation, we considered a range of sample sizes, minor allele frequencies, and imputation accuracies to compare the performance of the different methods under various genetic models. The mixture models performed the best in the setting of a large genetic effect and low imputation accuracies. However, for most realistic settings, we find that regressing the phenotype on the estimated allelic or genotypic dosage provides an attractive compromise between accuracy and computational tractability

A Comparative Proteomic Analysis of Praziquantel-Susceptible and Praziquantel-Resistant Schistosoma mansoni Reveals Distinct Response Between Male and Female Animals

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Acoustic telemetry and accelerometers: a field comparison of different proxies for activity in the marine environment

Different proxies for activity are used in the field of acoustic telemetry, a leading technology for the study of behaviour in the aquatic environment. Acoustic telemetry poses some shortcomings that may condition data interpretation. Here, we assessed some approaches commonly used to infer activity from acoustic telemetry data using acceleration biologgers as a benchmark. Specifically, we assessed (1) the performance of internal acceleration transmitters, (2) the consequences of averaging acceleration data into increasing time bins, (3) the occurrence of sampling bias in telemetry data acquisition, and (4) the performance of the number of detections and the depth range as proxies for activity. Despite some constraints of acoustic telemetry, acceleration transmitters had a good performance. Conversely, the number of detections and the depth range did not match well the activity estimates provided by acceleration biologgers. Besides, our results pointed to some issues in models concerning the predictive power of acceleration transmitters (linear predictor) over acceleration biologgers, warned about potential sampling bias associated with data acquisition with acoustic telemetry, and highlighted the relevance of considering inter-individual differences in behavioural studies. Finally, we provided some methodological perspectives that should be considered to plan fieldwork, analyse data, and interpret results on animal activity obtained with acoustic telemetry.info:eu-repo/semantics/publishedVersio

An unusual case of low-grade tubulopapillary adenocarcinoma of the sinonasal tract

<p>Abstract</p> <p>Background</p> <p>Low-grade papillary adenocarcinomas of the sinonasal tract are rare neoplasms. Over recent years, little doubt remains that this tumour represents a separate entity based on morphology, ultrastructural features and behaviour. We outline a case of this rare entity displaying a not hitherto described immunophenotype.</p> <p>Case presentation</p> <p>A 32 year old man presented recurrent epistaxis was evaluated with endoscopy which revealed a well circumscribed pedunculated mass lesion in left nares. The mass was arising from the nasal septum which was excised along with the mass. The biopsy revealed low-grade, non-intestinal type sinonasal tubulopapillary adenocarcinoma.</p> <p>Conclusion</p> <p>TTF-1 immunoreactivity in absence of thyroid or pulmonary primary in the present case remains an enigma. However, this raises the possibility of the utility of this antibody to predict a better clinical outcome in the subset of low grade non-intestinal sinonasal adenocarcinoma. More cases of similar morphological appearance may need to be examined for TTF-1 immunoreactivity and clinically followed up to establish this theory.</p

Parameter Estimation and Quantitative Parametric Linkage Analysis with GENEHUNTER-QMOD

Objective: We present a parametric method for linkage analysis of quantitative phenotypes. The method provides a test for linkage as well as an estimate of different phenotype parameters. We have implemented our new method in the program GENEHUNTER-QMOD and evaluated its properties by performing simulations. Methods: The phenotype is modeled as a normally distributed variable, with a separate distribution for each genotype. Parameter estimates are obtained by maximizing the LOD score over the normal distribution parameters with a gradient-based optimization called PGRAD method. Results: The PGRAD method has lower power to detect linkage than the variance components analysis (VCA) in case of a normal distribution and small pedigrees. However, it outperforms the VCA and Haseman-Elston regression for extended pedigrees, nonrandomly ascertained data and non-normally distributed phenotypes. Here, the higher power even goes along with conservativeness, while the VCA has an inflated type I error. Parameter estimation tends to underestimate residual variances but performs better for expectation values of the phenotype distributions. Conclusion: With GENEHUNTER-QMOD, a powerful new tool is provided to explicitly model quantitative phenotypes in the context of linkage analysis. It is freely available at http://www.helmholtz-muenchen.de/genepi/downloads. Copyright (C) 2012 S. Karger AG, Base

Early peripheral endothelial dysfunction predicts myocardial infarct extension and microvascular obstruction in patients with ST-elevation myocardial infarction.

INTRODUCTION AND OBJECTIVES: The role of endothelial dysfunction (ED) in patients with ST-elevation myocardial infarction (STEMI) is poorly understood. Peripheral arterial tonometry (PAT) allows non-invasive evaluation of ED, but has never been used for this purpose early after primary percutaneous coronary intervention (P-PCI). Our purpose was to analyze the relation between ED assessed by PAT and both the presence of microvascular obstruction (MVO) and infarct extension in STEMI patients. METHODS: ED was assessed by the reactive hyperemia index (RHI), measured by PAT and defined as RHI <1.67. Infarct extension was assessed by troponin I (TnI) release and contrast-enhanced cardiac magnetic resonance (ceCMR). MVO was assessed by ceCMR and by indirect angiographic and ECG indicators. An echocardiogram was also performed in the first 12 h. RESULTS: We included 38 patients (mean age 60.0±13.7 years, 29 male). Mean RHI was 1.87±0.60 and 16 patients (42.1%) had ED. Peak TnI (median 118 mg/dl, IQR 186 vs. 67/81, p=0.024) and AUC of TnI (median 2305, IQR 2486 vs. 1076/1042, p=0.012) were significantly higher in patients with ED, who also showed a trend for more transmural infarcts (63.6% vs. 22.2%, p=0.06) and larger infarct mass on ceCMR (median 17.5%, IQR 15.4 vs. 10.1/10.3, p=0.08). Left ventricular ejection fraction (LVEF) was lower and wall motion score index (WMSI) was higher on both echocardiogram and ceCMR in patients with ED. On ceCMR, MVO was more frequent in patients with RHI <1.67 (54.5% vs. 11.1%, p=0.03). ECG and angiographic indicators of MVO all showed a trend toward worse results in these patients. CONCLUSIONS: The presence of ED assessed by PAT 24 h after P-PCI in patients with STEMI is associated with larger infarcts, lower LVEF, higher WMSI and higher prevalence of MVO.info:eu-repo/semantics/publishedVersio

Molecular Dissection of Psoriasis: Integrating Genetics and Biology

Psoriasis is a common and debilitating disease of the skin, nails, and joints, with an acknowledged but complex genetic basis. Early genome-wide linkage studies of psoriasis focused on segregation of microsatellite markers in families; however, the only locus consistently identified resided in the major histocompatibility complex. Subsequently, several groups mapped this locus to the vicinity of HLA-C, and two groups have reported HLA-Cw6 itself to be the major susceptibility allele. More recently, the development of millions of single-nucleotide polymorphisms, coupled with the development of high-throughput genotyping platforms and a comprehensive map of human haplotypes, has made possible a genome-wide association approach using cases and controls rather than families. Taking advantage of these developments, we participated in a collaborative genome-wide association study of psoriasis involving thousands of cases and controls. Initial analysis of these data revealed and/or confirmed association between psoriasis and seven genetic loci—HLA-C, IL12B, IL23R, IL23A, IL4/IL13, TNFAIP3, and TNIP1—and ongoing studies are revealing additional loci. Here, we review the epidemiology, immunopathology, and genetics of psoriasis, and present a disease model integrating its genetics and immunology