Gait classification of patients with Fabry's disease based on normalized gait features obtained using multiple regression models

Diagnosis of Fabry disease (FD) remains a challenge mostly due to its rare occurrence and phenotipical variability, with considerable delay between onset and clinical diagnosis. It is then of extreme importance to explore biomarkers capable of assisting the earlier diagnosis of FD. There is growing evidence supporting the use of gait assessment in the diagnosis and management of several neurological diseases. In fact, gait abnormalities have previously been observed in FD, justifying further investigation. The aim of this study is to evaluate the effectiveness of different machine learning strategies when distinguishing patients with FD from healthy controls based on normalized gait features. Gait features of an individual are affected by physical characteristics including age, height, weight, and gender, as well as walking speed or stride length. Therefore, in order to reduce bias due to inter-subject variations a multiple regression (MR) normalization approach for gait data was performed. Four different machine learning strategies - Support Vector Machines (SVM), Random Forest (RF), Multiple Layer Perceptrons (MLPs), and Deep Belief Networks (DBNs) - were employed on raw and normalized gait data. Wearable sensors positioned on both feet were used to acquire the gait data from 36 patients with FD and 34 healthy subjects. Gait normalization using MR revealed significant differences in percentage of stance phase spent in foot flat and pushing (p < 0.05), with FD presenting lower percentages in foot flat and higher in pushing. No significant differences were observed before gait normalization. Support Vector Machine was the superior classifier achieving an FD classification accuracy of 78.21% after gait normalization, compared to 71.96% using raw gait data. Gait normalization improved the performance of all classifiers. To the best of our knowledge, this is the first study on gait classification that includes patients with FD, and our results support the use of gait assessment on the clinical assessment of FD.This work was partially supported by the projects NORTE-01-0145- FEDER- 000026 (DeM-Deus Ex Machina) financed by NORTE2020 and FEDER, and the Pluriannual Funding Programs of the research centres CMAT and Algoritm

Delta Beta (δβ) thalassemia: Learning from External Quality Assessment

Introduction: External Quality Assessment Programs (EQA) evaluate retrospectively the laboratory results, assessing their performance and competence. They play a key role in the continuous training process of the professionals, contributing not only for precise and accurate results, but also to a correct interpretation. δβ thalassemia results from a deletion in genes delta and beta of chromosome 11. Although its definitive identification demands genetic analysis, the hematologic evaluation allows the presumptive identification. The hematologic phenotype of heterozygotes for δβ-thalassemia is identic to β-thalassemia carrier, with microcytosis and hypochromia where the percentage of HbA2 is not increased and Hb F is usually high, varying from 5 to 20%. In 2018, the National External Quality Assessment Program (PNAEQ), sent a sample that simulated a carrier of delta beta (δβ) thalassemia, in order to evaluate the performance of the participants registered in the Hemoglobinopathies Program. Objective: Evaluate the performance of PNAEQ’s participants in the quantification of HbA2 and HbF, and interpretation of results of a sample that simulated an δβ-thalassemia carrier.info:eu-repo/semantics/publishedVersio

Estado Nutricional Antropométrico Pré-Gestacional e Resultado Obstétrico

INTRODUÇÃO: Achados de estudos epidemiológicos apontam que a inadequação do estado antropométrico materno, tanto pré-gestacional, quanto gestacional, constituem problema de saúde pública inquestionável, pois favorece o desenvolvimento de intercorrências gestacionais e influencia as condições de saúde do concepto e a saúde materna no período pós-parto. Objetivo: analisar a associação entre o estado nutricional pré-gestacional materno e o resultado obstétrico - síndromes hipertensivas da gravidez (SHG), diabetes gestacional (DG), deficiência de vitamina A (DVA), anemia e baixo peso ao nascer (BPN). Material e método: Trata-se de um estudo transversal, com 433 puérperas adultas (&gt;20 anos), atendidas em uma Maternidade Pública do Rio de Janeiro e seus respectivos recém-nascidos. As informações foram coletadas em consulta a prontuários e entrevistas. O estado nutricional pré gestacional materno foi definido por meio do Índice de Massa Corporal (IMC) pré-gestacional, segundo os pontos de corte para mulheres adultas da WHO (1995). Estimou se a associação entre os desfechos gestacionais e o estado nutricional pré-gestacional, odds ratio (OR) e intervalo de confiança (IC) de 95%. Resultados: 31,6% das mulheres apresentou desvio ponderal pré-gestacional (baixo peso; sobrepeso e obesidade). Considerando-se o estado nutricional pré-gestacional, aquelas com sobrepeso e obesidade apresentaram menor ganho ponderal do que as eutróficas e as com baixo peso (p &lt; 0,05). As mulheres com obesidade pré-gestacional apresentaram risco aumentado de desenvolverem SHG (OR= 6,3; IC 95%= 1,90-20,5) e, aquelas com baixo peso pré-gestacional, maior chance de terem recém-nascidos com BPN (OR= 7,1, IC95% =1,9-27,5). Não foi evidenciada a associação entre estado nutricional pré-gestacional e o desenvolvimento de anemia, DVA e DG. Conclusão: Estes achados reforçam a importância da avaliação nutricional no pré-natal, não somente com enfoque nos desvios ponderais, mas no combate às carências nutricionais específicas

Positive emotions in the use of the built space associated with the attributes of biophilic design

O design biofílico proporciona soluções de integração da natureza com os ambientes construídos, promovendo agradabilidade (pleasantness) e bem-estar para os usuários. Este trabalho tem como objetivo identificar emoções positivas dos usuários, associadas aos atributos do design biofílico na avaliação do ambiente construído do novo campus Unisinos, em Porto Alegre. O método proposto abrange uma etapa qualitativa e outra quantitativa, partindo da pesquisa de satisfação com os usuários. Por meio da estruturação de questionário, são aferidas maiores informações a respeito das emoções positivas elicitadas pelos atributos da edificação, assim como da intensidade em que essas emoções são percebidas pelos alunos na interação com o espaço. Os resultados demonstram a contribuição positiva do campo de estudo do design e emoção, bem como do design biofílico, para avaliação do ambiente construído.Biophilic design has brought nature integration solutions with built-in environments, promoting pleasantness and well-being for users. This paper aims to identify users’ positive emotions associated to the attributes of biophilic design in the evaluation of the built environment of the new Unisinos campus, in Porto Alegre. The proposed method includes a qualitative and a quantitative step, starting with satisfaction survey with the users. A questionnaire was developed to gain more information about the positive emotions elicited by the attributes of the building and the intensity by which those attributes are perceived by the students in interaction with the space. The results demonstrate the positive contribution of the study of design and emotion, as well as biophilic design, to evaluate the built environment

Toxicity of β-(1→3,1→6)-ᴅ-glucans produced by Diaporthe sp. endophytes on Metarhizium anisopliae (Metschnikoff) Sorokin assessed by conidia germination speed parameter

Previously, our study reported that β-(1→3,1→6)-ᴅ-glucans produced by endophytes Diaporthe sp. G27-60 and G65-65 (GenBank accession codes JF766998 and JF767007, respectively) are promising antiproliferative agents against human breast carcinoma (MCF-7) and hepatocellular carcinoma (HepG2-C3A) cells. However, effects of Diaporthe exopolysaccharides on eukaryotic healthy cells are not described in current literature. The fungus Metarhizium anisopliae has been employed as teste-system to evaluate the toxicity of pharmaceutical and agricultural-interest substances, considering, among other parameters, conidia germination speed. The current study aimed to verify the effect of different concentrations of Diaporthe β-glucans on the germination speed of M. anisopliae. Conidia were incubated with β-glucans treatments (50, 200 and 400 μg/mL) at 28 ºC, sampled throughout 24 h and analyzed by light microscopy. At the end of 24 h of incubation, the amount of germinated conidia was ≈99% for controls and ranged from 97.7 to 98.6% for treatments. Bayesian analysis indicated that Diaporthe glucans had no toxicity on M. anisopliae and the curve of germination occurred as expected for this fungal strain. Considering the validity of filamentous fungi as model systems, these results are important data about the toxicity of these endophytic EPS on healthy cells and may be associated with previous results obtained for these polymers against tumor cells. Keywords: bayesian analysis, conidia germination, endophytic fungi, exopolysaccharide, fungal model-system

Evaluación del nuevo Contador Hematológico Unicel ® DXH 800 – Beckman Coulter en el estudio citológico de los liquidos biológicos

Poster apresentado no LVII Congreso Nacional de la Sociedad Española de Hematología y Hemoterapia (SEHH)/ XXXI Congreso Nacional de la Sociedad Española de Trombosis y Hemostasia (SETH), 22-24 Outubro 2015, Valencia

CGIAR genebank viability data reveal inconsistencies in seed collection management

Genebanks underpin global food security, conserving and distributing agrobiodiversity for use in research and breeding. The CGIAR collections include >700,000 seed accessions, held in trust as global public goods. However, the role of genebanks in contributing to global food security can only be realized if collections are effectively managed. Examination of the historical viability monitoring data from seven CGIAR genebanks confirmed that high seed viability was maintained for many decades for the various crops and forage species. However, departures from optimum management procedures were revealed, and there were insufficient data gathered to derive reliable estimates of longevity needed to better forecast regeneration requirements, estimate the size of seed lots that should be stored, and optimize accession monitoring intervals