Neuropatia da Doença de Hansen: Um Diagnóstico a Considerar na Investigação da Neuropatia Periférica

INTRODUCTION: Leprosy is still one of the most frequent causes of peripheral neuropathy. Although regarded as eradicated in Portugal, is still documented in neuropathological study of patients with clinical peripheral neuropathy without proper diagnosis.MATERIAL AND METHODS: Review of the cases of Hansen disease neuropathy diagnosed in Neuropathology Unit of Centro Hospitalar do Porto between 1978 and 2013, atending to gender, age, clinical manifestations and neuropathological findings.RESULTS: Twenty one patients were identified with neuropathological diagnosis of Hansenâs disease neuropathy, predominantly male. The mean age at diagnosis was 52 years, and sensory symptoms predominate as neurological manifestation of disease. Interval between symptoms and diagnosis was 1-38 years. In most nerve samples tuberculoid type of disease was identified. Bacilli were detected in skin and nerve in 44% of cases.DISCUSSION: Mononeuritis is the most common presentation of leprosy but other clinical manifestations are possible, including skin lesions. Infection with M. leprae injures myelinated and unmyelinated fibres, with replacement of nerve tissue by collagen fibrosis. The diagnosis of leprosy is only achieved by neuropathological study of skin lesions and / or peripheral nerve, supported by the identification of the bacillus.CONCLUSION: Hansen disease remains a public health problem in tropical areas and, although rare, still described in Western countries reason why should still be considered as a diagnostic possibility in the investigation of peripheral neuropathy

Effects of antenatal betamethasone on preterm human and mouse ductus arteriosus: comparison with baboon data.

BackgroundAlthough studies involving preterm infants ≤34 weeks gestation report a decreased incidence of patent ductus arteriosus after antenatal betamethasone, studies involving younger gestation infants report conflicting results.MethodsWe used preterm baboons, mice, and humans (≤276/7 weeks gestation) to examine betamethasone's effects on ductus gene expression and constriction both in vitro and in vivo.ResultsIn mice, betamethasone increased the sensitivity of the premature ductus to the contractile effects of oxygen without altering the effects of other contractile or vasodilatory stimuli. Betamethasone's effects on oxygen sensitivity could be eliminated by inhibiting endogenous prostaglandin/nitric oxide signaling. In mice and baboons, betamethasone increased the expression of several developmentally regulated genes that mediate oxygen-induced constriction (K+ channels) and inhibit vasodilator signaling (phosphodiesterases). In human infants, betamethasone increased the rate of ductus constriction at all gestational ages. However, in infants born ≤256/7 weeks gestation, betamethasone's contractile effects were only apparent when prostaglandin signaling was inhibited, whereas at 26-27 weeks gestation, betamethasone's contractile effects were apparent even in the absence of prostaglandin inhibitors.ConclusionsWe speculate that betamethasone's contractile effects may be mediated through genes that are developmentally regulated. This could explain why betamethasone's effects vary according to the infant's developmental age at birth

Dynamic left ventricular outflow tract obstruction in living donor liver transplantation recipients -A report of two cases-

We present two cases of dynamic left ventricular outflow tract obstruction in 2 patients who were undergoing living donor liver transplantation. On the preoperative transthoracic echocardiography, the first patient showed normal ventricular function and a normal wall thickness, but severe hemodynamic deterioration developed during the anhepatic period and this was further aggravated after reperfusion in spite of volume resuscitation and catecholamine therapy. Intraoperative transesophageal echocardiography revealed the systolic anterior motion of the mitral valve leaflet together with left ventricular outflow tract obstruction. The second patient showed left ventricular hypertrophy with left ventricular outflow tract obstruction on the preoperative echocardiography. Intraoperative transesophageal echocardiography was used to guide fluid administration and the hemodynamic management throughout the procedure and a temporary portocaval shunt was established to mitigate the venous pooling during the anhepatic period. The purpose of this report is to emphasize the clinical significance of dynamic left ventricular outflow tract obstruction in patients who are undergoing living donor liver transplantation and the role of intraoperative echocardiography to detect and manage it

FRA2A is a CGG repeat expansion associated with silencing of AFF3

Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID). Cytogenetic expression results from CGG tri-nucleotide-repeat expansion mutation associated with local CpG hypermethylation and transcriptional silencing. The best studied is the FRAXA site in the FMR1 gene, where large expansions cause fragile X syndrome, the most common inherited ID syndrome. Here we studied three families with FRA2A expression at 2q11 associated with a wide spectrum of neurodevelopmental phenotypes. We identified a polymorphic CGG repeat in a conserved, brain-active alternative promoter of the AFF3 gene, an autosomal homolog of the X-linked AFF2/FMR2 gene: Expansion of the AFF2 CGG repeat causes FRAXE ID. We found that FRA2A-expressing individuals have mosaic expansions of the AFF3 CGG repeat in the range of several hundred repeat units. Moreover, bisulfite sequencing and pyrosequencing both suggest AFF3 promoter hypermethylation. cSNP-analysis demonstrates monoallelic expression of the AFF3 gene in FRA2A carriers thus predicting that FRA2A expression results in functional haploinsufficiency for AFF3 at least in a subset of tissues. By whole-mount in situ hybridization the mouse AFF3 ortholog shows strong regional expression in the developing brain, somites and limb buds in 9.5-12.5dpc mouse embryos. Our data suggest that there may be an association between FRA2A and a delay in the acquisition of motor and language skills in the families studied here. However, additional cases are required to firmly establish a causal relationship

The potential of neurofilaments analysis using dry-blood and plasma spots

The lack of biomarkers for an early diagnosis of neurodegenerative disorders (NDs) has hampered the development of therapeutics whose effect would be enhanced by a timely intervention. Neurofilaments light chain (Nf-L), an integral part of the axonal structure, has emerged as a robust fluid biomarker for fatal neurodegenerative disorders like amyotrophic lateral sclerosis (ALS). To facilitate large-scale studies into early-stage neurodegeneration, reduce costs of samples collection/processing and cold-chain storage, we describe the measurement of Nf-L in blood fractions obtained from dry blood spots (DBS) and dry plasma spots (DPS), two filter paper-based remote blood collection tools. To test the feasibility of using this approach, Nf-L analysis in DBS/DPS is compared to that in plasma obtained from the same blood sample, looking at Nf-L discriminatory power in the clinical stratification of ALS compared to healthy controls. With the best pre-analytical treatment for total protein recovery and using highly sensitive immunoassays, we report the detection of different Nf-L levels in DBS elute compared to reference plasma and DPS from the same blood samples. However, Nf-L measurement in DBS elutes provides a very good discrimination of ALS from healthy controls which is comparable to that obtained using plasma Nf-L assays. With the available immunodetection methods, we show that Nf-L measurement based on DPS microsampling is similar to that in plasma. The filter-paper biophysical characteristics and the interference of high haemoglobin concentration released by erythrocyte lysis is likely to perturb Nf-L detection in DBS elute. Further studies into DBS-based Nf-L detection and its analytical optimization are needed to make this method suitable for routine Nf-L blood analyses in neurodegeneration

Adherence to yoga and exercise interventions in a 6-month clinical trial

<p>Abstract</p> <p>Background</p> <p>To determine factors that predict adherence to a mind-body intervention in a randomized trial.</p> <p>Design</p> <p>We analyzed adherence data from a 3-arm trial involving 135 generally healthy seniors 65–85 years of age randomized to a 6-month intervention consisting of: an Iyengar yoga class with home practice, an exercise class with home practice, or a wait-list control group. Outcome measures included cognitive function, mood, fatigue, anxiety, health-related quality of life, and physical measures. Adherence to the intervention was obtained by class attendance and biweekly home practice logs.</p> <p>Results</p> <p>The drop-out rate was 13%. Among the completers of the two active interventions, average yoga class attendance was 77% and home practice occurred 64% of all days. Average exercise class attendance was 69% and home exercise occurred 54% of all days. There were no clear effects of adherence on the significant study outcomes (quality of life and physical measures). Class attendance was significantly correlated with baseline measures of depression, fatigue, and physical components of health-related quality of life. Significant differences in baseline measures were also found between study completers and drop-outs in the active interventions. Adherence was not related to age, gender, or education level.</p> <p>Conclusion</p> <p>Healthy seniors have good attendance at classes with a physically active intervention. Home practice takes place over half of the time. Decreased adherence to a potentially beneficial intervention has the potential to decrease the effect of the intervention in a clinical trial because subjects who might sustain the greatest benefit will receive a lower dose of the intervention and subjects with higher adherence rates may be functioning closer to maximum ability before the intervention. Strategies to maximize adherence among subjects at greater risk for low adherence will be important for future trials, especially complementary treatments requiring greater effort than simple pill-taking.</p

First report on dung beetles in intra-Amazonian savannahs in Roraima, Brazil

This is the first study to address the dung beetle (Coleoptera: Scarabaeidae: Scarabaeinae) diversity in intra-Amazonian savannahs in the state of Roraima, Brazil. Our aim was to survey the dung beetle fauna associated with these savannahs (regionally called 'lavrado'), since little is known about the dung beetles from this environment. We conducted three field samples using pitfall traps baited with human dung in savannah areas near the city of Boa Vista during the rainy seasons of 1996, 1997, and 2008. We collected 383 individuals from ten species, wherein six have no previous record in intra-Amazonian savannahs. The most abundant species were Ontherus appendiculatus (Mannerheim, 1829), Canthidium aff. humerale (Germar, 1813), Dichotomius nisus (Olivier, 1789), and Pseudocanthon aff. xanthurus (Blanchard, 1846). We believe that knowing the dung beetles diversity associated with the intra-Amazonian savannahs is ideal for understanding the occurrence and distribution of these organisms in a highly threatened environment, it thus being the first step towards conservation strategy development

Fatores de risco para quedas em pacientes adultos hospitalizados: um estudo caso-controle

Objective: to identify risk factors for falls in hospitalized adult patients. Methods: a matched case-control study (one control for each case). A quantitative study conducted in clinical and surgical units of a teaching hospital in Southern Brazil. The sample comprised 358 patients. Data were collected over 18 months between 2013-2014. Data analysis was performed with descriptive statistics and conditional logistic regression using Microsoft Excel and SPSS version 18.0. Results: risk factors identified were: disorientation/confusion [OR 4.25 (1.99 to 9.08), p&lt;0.001]; frequent urination [OR 4.50 (1.86 to 10.87), p=0.001]; walking limitation [OR 4.34 (2.05 to 9.14), p&lt;0.001]; absence of caregiver [OR 0.37 (0.22 to 0.63), p&lt;0.001]; postoperative period [OR 0.50 (0.26 to 0.94), p=0.03]; and number of medications administered within 72 hours prior the fall [OR 1.20 (1.04 to 1.39) p=0.01]. Conclusion: risk for falls is multifactorial. However, understanding these factors provides support to clinical decision-making and positively influences patient safety.Objetivo: identificar los factores de riesgo para la ocurrencia de caídas en pacientes adultos hospitalizados. Métodos: un estudio caso-control emparejado (un control para cada caso). Investigación cuantitativa llevada a cabo en unidades clínicas y quirúrgicas de un hospital universitario en el Sur de Brasil. La muestra constó de 358 pacientes. Se recopilaron datos durante 18 meses, entre 2013-2014. El análisis de los datos se realizó mediante estadística descriptiva y regresión logística condicional, utilizando el Microsoft Excel y el SPSS versión 18.0. Resultados: los factores de riesgo identificados fueron: desorientación/confusión [OR 4,25 (1,99 a 9,08), p&lt;0,001]; micción frecuente [OR 4,50 (1,86 a 10,87), p=0,001]; limitación para caminar [OR 4,34 (2,05 a 9,14), p&lt;0,001]; ausencia de cuidadores [OR 0,37 (0,22 a 0,63), p&lt;0,001]; período postoperatorio [OR 0,50 (0,26 a 0,94), p=0,03]; y número de medicamentos administrados dentro de las 72 horas previas a la caída [OR 1,20 (1,04 a 1,39) p=0,01]. Conclusión: los riesgos de caídas son multifactoriales. Sin embargo, la comprensión de estos factores respalda la toma de decisiones clínicas y tiene un impacto positivo en la seguridad del paciente.Objetivo: identificar os fatores de risco para a ocorrência de quedas em pacientes adultos hospitalizados. Métodos: estudo do tipo caso-controle pareado (um controle para cada caso). Pesquisa quantitativa realizada em unidades clínicas e cirúrgicas de um hospital universitário da região Sul do Brasil. A amostra incluiu 358 pacientes. Os dados foram coletados durante 18 meses, entre 2013-2014. A análise dos dados foi realizada por meio de estatística descritiva e regressão logística condicional, utilizando o Microsoft Excel e o SPSS versão 18.0. Resultados: os fatores de risco identificados foram: desorientação/confusão [OR 4,25 (1,99 a 9,08), p&lt;0,001]; micção frequente [OR 4,50 (1,86 a 10,87), p=0,001]; limitação para caminhar [OR 4,34 (2,05 a 9,14), p&lt;0,001]; ausência de cuidador [OR 0,37 (0,22 a 0,63), p&lt;0,001]; período pós-operatório [OR 0,50 (0,26 a 0,94), p=0,03]; e o número de medicamentos administrados nas 72 horas anteriores à queda [OR 1,20 (1,04 a 1,39) p=0,01]. Conclusão: os riscos para quedas são multifatoriais. Todavia, conhecê-los dá suporte à decisão clínica do enfermeiro, o que contribui para a busca das melhores intervenções preventivas e impacta positivamente na segurança dos pacientes