Mosaic Trisomy 18 in a Five-Month-Old Infant - Case Report

Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five month old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy.Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominent occiput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealedmosaic trisomy 18with trisomy in 90%of peripheral lymphocytes and 17%of skin fibroblasts.This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described.

Financiamentos das pequenas e médias empresas

Relatório de Estágio apresentado ao Instituto de Contabilidade e Administração do Porto para a obtenção do grau de Mestre em Contabilidade e Finanças, sob orientação do Mestre Carlos Lourenço Moreira de Barros

Teaching mathematics using Massive Open Online Courses

Distance learning - where students take courses (attend classes, get activities and other sort of learning materials) while being physically separated from their instructors, for larger part of the course duration - is far from being a “new event”. Since the middle of the nineteenth century, this has been done through Radio, Mail and TV, taking advantage of the full educational potential that these media resources had to offer at the time. However, in recent times we have, at our complete disposal, the “magic wonder” of communication and globalization - the Internet. Taking advantage of a whole new set of educational opportunities, with a more or less unselfish “look” to economic interests, focusing its concern on a larger and collective “welfare”, contributing to the development of a more “equitable” world, with regard to educational opportunities, the Massive Open Online Courses (MOOCs) were born and have become an important feature of the higher education in recent years. Many people have been talking about MOOCs as a potential educational revolution, which has arrived from North America, still growing and spreading, referring to its benefits and/or disadvantages. The Polytechnic Institute of Porto, also known as IPP, is a Higher Education Portuguese institution providing undergraduate and graduate studies, which has a solid history of online education and innovation through the use of technology, and it has been particularly interested and focused on MOOC developments, based on an open educational policy in order to try to implement some differentiated learning strategies to its actual students and as a way to attract future ones. Therefore, in July 2014, IPP launched the first Math MOOC on its own platform. This paper describes the requirements, the resulting design and implementation of a mathematics MOOC, which was essentially addressed to three target populations: - pre-college students or individuals wishing to update their Math skills or that need to prepare for the National Exam of Mathematics; - Higher Education students who have not attended in High School, this subject, and who feel the need to acquire basic knowledge about some of the topics covered; - High School Teachers who may use these resources with their students allowing them to develop teaching methodologies like "Flipped Classroom” (available at http://www.opened.ipp.pt/). The MOOC was developed in partnership with several professors from several schools from IPP, gathering different math competences and backgrounds to create and put to work different activities such video lectures and quizzes. We will also try to briefly discuss the advertising strategy being developed to promote this MOOC, since it is not offered through a main MOOC portal, such as Coursera or Udacity.

Projeto de sistema de gestão técnica centralizada integrando Smart Panels: edifício comercial como caso de estudo

Os Sistemas de Gestão Técnica Centralizada (SGTC) assumem-se como essenciais nos grandes edifícios, já que permitem monitorizar, controlar, comandar e gerir, de forma facilitada, integrada e otimizada, as várias instalações existentes no edifício. O estado da arte de um SGTC baseia-se numa arquitetura distribuída, com recurso a Quadros de Gestão Técnica (QGT) que incluem Automation Servers - equipamentos nativos nos protocolos de comunicação mais comummente utilizados neste âmbito, incorporadores de funcionalidades e programações pré-definidas, e que ficarão responsáveis por integrar na sua área de influência, um conjunto de pontos de SGTC, definidos em projeto. Numa nova filosofia de instalação, integração e comunicação facilitada entre dispositivos que nos quadros elétricos geram dados relevantes para o utilizador e desencadeiam ações úteis na gestão de uma instalação, surge o novo conceito no mercado de Smart Panels, da Schneider Electric. Este sistema baseia-se numa ampla e diversa gama de possibilidades de medição e monitorização energética e da própria aparelhagem, com um sistema de comunicação com o sistema de gestão e controlo da instalação integrado no próprio quadro, dispensando assim a necessidade de um sistema externo (QGT), de recolha, comunicação e processamento de informação. Após o estudo descritivo teórico dos vários tópicos, questões e considerações relacionadas com os SGTC, os Smart Panels e a sua integração, o projeto e estudo comparativo do SGTC sem e com a integração de Smart Panels num grande centro comercial, permitiu concluir que a integração de Smart Panels num SGTC pode conferir vantagens no que diz respeito à implificação do projeto, da instalação, do comissionamento, programação, e da própria exploração da instalação elétrica, traduzindo-se numa redução dos custos normalmente elevados inerentes à mão de obra associada a todos estes processos.

High-Content Analysis of Breast Cancer Using Single-Cell Deep Transfer Learning

High-content analysis has revolutionized cancer drug discovery by identifying substances that alter the phenotype of a cell, which prevents tumor growth and metastasis. The high-resolution biofluorescence images from assays allow precise quantitative measures enabling the distinction of small molecules of a host cell from a tumor. In this work, we are particularly interested in the application of deep neural networks (DNNs), a cutting-edge machine learning method, to the classification of compounds in chemical mechanisms of action (MOAs). Compound classification has been performed using image-based profiling methods sometimes combined with feature reduction methods such as principal component analysis or factor analysis. In this article, we map the input features of each cell to a particular MOA class without using any treatment-level profiles or feature reduction methods. To the best of our knowledge, this is the first application of DNN in this domain, leveraging single-cell information. Furthermore, we use deep transfer learning (DTL) to alleviate the intensive and computational demanding effort of searching the huge parameter's space of a DNN. Results show that using this approach, we obtain a 30% speedup and a 2% accuracy improvement.

Articulação de várias linguagens de programação/tecnologias no desenvolvimento aplicacional

O desenvolvimento aplicacional é uma área em grande expansão no mercado das tecnologias de informação e como tal, é uma área que evolui rápido. Os impulsionadores para esta característica são as comunicações e os equipamentos informáticos, pois detêm características mais robustas e são cada vez mais rápidos. A função das aplicações é acompanhar esta evolução, possuindo arquiteturas mais complexas/completas visando suportar todos os pedidos dos clientes, através da produção de respostas em tempos aceitáveis. Esta dissertação aborda várias arquiteturas aplicacionais possíveis de implementar, mediante o contexto que esteja inserida, como por exemplo, um cenário com poucos ou muitos clientes, pouco ou muito capital para investir em servidores, etc. É fornecido um nivelamento acerca dos conceitos subjacentes ao desenvolvimento aplicacional. Posteriormente é analisado o estado de arte das linguagens de programação web e orientadas a objetos, bases de dados, frameworks em JavaScript, arquiteturas aplicacionais e, por fim, as abordagens para definir objetivos mensuráveis no desenvolvimento aplicacional. Foram implementados dois protótipos. Um deles, numa arquitetura multicamada com várias linguagens de programação e tecnologias. O segundo, numa única camada (monolítica) com uma única linguagem de programação. Os dois protótipos foram testados e comparados com o intuito de escolher uma das arquiteturas, num determinado cenário de utilização.

Farm 2.0 Using Wordpress to Manage Geocontent and Promote Regional Food Products

Dissertation submitted in partial fulfilment of the requirements for the Degree of Master of Science in Geospatial Technologies.

Siawise Audit

Intitulada SIAWISE AUDIT, esta dissertação pretende apresentar o desenvolvimento de uma aplicação informática com o mesmo nome, e o conceito que esta defende e de que forma pode simplificar e reduzir o trabalho dos seus utilizadores. O SIAWISE AUDIT surge da necessidade de modernizar, informatizar e acelerar o processo de auditoria de conformidade legal prestado pela empresa acolhedora e mentora do projeto – a SIA. Sucintamente, o projeto visava a implementação de uma aplicação desenvolvida inicialmente tendo como alvo o Windows 8.1 mas que atualmente já é compatível com o novo Windows 10. A solução tem como principal característica o funcionamento em modo offline, essencial ao trabalho no terreno e em instalações de recursos frequentemente limitados no que refere à utilização de Internet. A aplicação tem como fonte de dados o software de gestão de legislação da SIA – o SIAWISE – que contém todos os dados relativos à legislação aplicável a cada cliente. Por se tratar de uma ferramenta exclusivamente para uso interno da organização, a interação e comunicações são sempre efetuadas através do BackOffice – o SIAWISE MASTER – este permite a importação e exportação de dados referentes à auditoria para o SIAWISE AUDIT. O resultado do processo de auditoria com recurso ao SIAWISE AUDIT tem como principal output a geração automática de um relatório de auditoria pronto a entregar ao cliente.

Microtheories for SDI - Accounting for diversity of local conceptualisations at a global level

Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.

Geospatial data harmonization from regional level to european level: a usa case in forest fire data

Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.

Detecção e Quantificação de Neurónios em C.elegans

Nesta dissertação é apresentado um estudo dos sistemas de processamento automático de imagem em contexto de um problema relacionado com a individualização de neurónios em imagens da nematoda C. elegans durante estudos relacionados com a doença de Parkinson. Apresenta-se uma breve introdução à anatomia do verme, uma introdução à doença de Parkinson e uso do C. elegans em estudos relacionados e também é feita a análise de artigos em contexto de processamento de imagem para contextualizar a situação atual de soluções para o problema de extração de características e regiões específicas. Neste projeto é desenvolvida uma pipeline com o auxilio do software CellProfiler para procurar uma resposta para o problema em questão.

Automatic Small Bowel Tumor Diagnosis by Using Multi-Scale Wavelet-Based Analysis in Wireless Capsule Endoscopy Images

BACKGROUND: Wireless capsule endoscopy has been introduced as an innovative, non-invasive diagnostic technique for evaluation of the gastrointestinal tract, reaching places where conventional endoscopy is unable to. However, the output of this technique is an 8 hours video, whose analysis by the expert physician is very time consuming. Thus, a computer assisted diagnosis tool to help the physicians to evaluate CE exams faster and more accurately is an important technical challenge and an excellent economical opportunity. METHOD: The set of features proposed in this paper to code textural information is based on statistical modeling of second order textural measures extracted from co-occurrence matrices. To cope with both joint and marginal non-Gaussianity of second order textural measures, higher order moments are used. These statistical moments are taken from the two-dimensional color-scale feature space, where two different scales are considered. Second and higher order moments of textural measures are computed from the co-occurrence matrices computed from images synthesized by the inverse wavelet transform of the wavelet transform containing only the selected scales for the three color channels. The dimensionality of the data is reduced by using Principal Component Analysis. RESULTS: The proposed textural features are then used as the input of a classifier based on artificial neural networks. Classification performances of 93.1% specificity and 93.9% sensitivity are achieved on real data. These promising results open the path towards a deeper study regarding the applicability of this algorithm in computer aided diagnosis systems to assist physicians in their clinical practice.

Chromosomal structure: a selectable trait for evolution

Dissertation presented to obtain the Ph.D degree in Evolutionary Biology

Lower Atherosclerotic Burden in Familial Abdominal Aortic Aneurysm

OBJECTIVE: Despite the apparent familial tendency toward abdominal aortic aneurysm (AAA) formation, the genetic causes and underlying molecular mechanisms are still undefined. In this study, we investigated the association between familial AAA (fAAA) and atherosclerosis. METHODS: Data were collected from a prospective database including AAA patients between 2004 and 2012 in the Erasmus University Medical Center, Rotterdam, The Netherlands. Family history was obtained by written questionnaire (93.1% response rate). Patients were classified as fAAA when at least one affected first-degree relative with an aortic aneurysm was reported. Patients without an affected first-degree relative were classified as sporadic AAA (spAAA). A standardized ultrasound measurement of the common carotid intima-media thickness (CIMT), a marker for generalized atherosclerosis, was routinely performed and patients' clinical characteristics (demographics, aneurysm characteristics, cardiovascular comorbidities and risk factors, and medication use) were recorded. Multivariable linear regression analyses were used to assess the mean adjusted difference in CIMT and multivariable logistic regression analysis was used to calculate associations of increased CIMT and clinical characteristics between fAAA and spAAA. RESULTS: A total of 461 AAA patients (85% men, mean age, 70 years) were included in the study; 103 patients (22.3%) were classified as fAAA and 358 patients (77.7%) as spAAA. The mean (standard deviation) CIMT in patients with fAAA was 0.89 (0.24) mm and 1.00 (0.29) mm in patients with spAAA (P = .001). Adjustment for clinical characteristics showed a mean difference in CIMT of 0.09 mm (95% confidence interval, 0.02-0.15; P = .011) between both groups. Increased CIMT, smoking, hypertension, and diabetes mellitus were all less associated with fAAA compared with spAAA. CONCLUSIONS: The current study shows a lower atherosclerotic burden, as reflected by a lower CIMT, in patients with fAAA compared with patients with spAAA, independent of common atherosclerotic risk factors. These results support the hypothesis that although atherosclerosis is a common underlying feature in patients with aneurysms, atherosclerosis is not the primary driving factor in the development of fAAA.

Overexpression and purification of Treponema pallidum rubredoxin; kinetic evidence for a superoxide-mediated electron transfer with the superoxide reductase neelaredoxin

J Biol Inorg Chem (2004) 9: 839–849 DOI 10.1007/s00775-004-0584-6