The Photoreceptor Cell-Specific Nuclear Receptor Gene (PNR ) Accounts for Retinitis Pigmentosa in the Crypto-Jews from Portugal (Marranos), Survivors from the Spanish Inquisition

The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic study of a highly consanguineous endogamic population of Crypto-Jews of Belmonte affected with autosomal recessive retinitis pigmentosa (RP). A genome-wide search for homozygosity allowed us to localize the disease gene to chromosome 15q22-q24 (Zmax=2.95 at θ=0 at the D15S131 locus). Interestingly, the photoreceptor cell-specific nuclear receptor (PNR) gene, the expression of which is restricted to the outer nuclear layer of retinal photoreceptor cells, was found to map to the YAC contig encompassing the disease locus. A search for mutations allowed us to ascribe the RP of Crypto-Jews of Belmonte to a homozygous missense mutation in the PNR gene. Preliminary haplotype studies support the view that this mutation is relatively ancient but probably occurred after the population settled in Belmonte.

Análise Exploratória do Índice de Desenvolvimento Humano: uma aplicação do Self Organizing Map na segmentação dos países

Dissertação apresentada como requisito parcial para obtenção do grau de Mestre em Estatística e Gestão de Informação.

Implementing quality management systems in small and medium construction companies: a contribution to a road map for success

Leadership and Management in Engineering, January 2009

Biodiversity open map (BiodOM) - SIGWeb colaborativos e Software Geoespacial Livre e Aberto numa abordagem da neogeografia aplicada ao conhecimento da biodiversidade

Trabalho de Projeto apresentado como requisito parcial para obtenção do grau de Mestre em Ciência e Sistemas de Informação Geográfica

Using GIS to map the spatial and temporal occurrence of cholera epidemic in Camaroon

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

Map-it – Mapeamento tridimensional de interiores

A perceção tridimensional é uma área em crescente desenvolvimento. Não existindo uma tecnologia ideal capaz de percecionar todo o tipo de cenários, têm surgido estudos sobre a aplicabilidade de diferentes tecnologias de forma a obter modelos que melhor se aproximem da realidade. Propõe-se nesta dissertação o desenvolvimento de um sistema de baixo-custo de percepção tridimensional que seja portátil e acessível na sua aplicabilidade, de forma a ter a capacidade de percecionar tridimensionalmente espaços interiores com pouca iluminação, tais como as divisões de um edifício ou os canais de uma mina subterrânea. Utilizou-se a triangulação entre uma câmara digital, os pontos de uma linha laser e um emissor laser para a obtenção dos dados tridimensionais do cenário. Para isso, recorreu-se a metodologias de processamento digital de imagens para a construção dos modelos dos cenários. Para se obter a validação desta dissertação, realizaram-se testes do protótipo de forma a determinar as suas capacidades percecionais. Em primeiro lugar realizou-se uma bateria de testes de calibração onde, repetidamente, se estudaram isoladamente pontos do cenário para verificar a precisão do sensor. Após esta calibração, estudou-se a capacidade de transformação de uma linha laser projetada num conjunto de coordenadas. Finalmente testou-se a capacidade de perceção tridimensional por rotação do sensor, de forma a realizar a transformação de múltiplas projeções de linhas laser num conjunto de coordenadas em torno do sensor. Verificou-se: no teste de calibração, a obtenção de distâncias com erro médio relativo inferior a 1%; no teste da linha laser, a capacidade de perceção de profundidade de múltiplos pontos ao longo da mesma; no teste de rotação, a aquisição de múltiplos conjuntos de linhas de profundidade no cenário, por rotação do sensor. Os resultados dos testes de validação permitiram concluir a viabilidade de utilizar a triangulação na aquisição de conjuntos de coordenadas de espaços interiores.

Fate map of zebrafish left-right organizer

The organizer is a ciliated signalling transient organ, responsible for the patterning of embryo tissues during embryonic development. In higher vertebrates, such as mouse and chick, this organizer (the node and the Hensen’s node, respectively) performs dorsalventral and anteriorposterior axis definition, as well as left-right patterning of the internal organs. In lower vertebrates, such as frog and zebrafish, there is a separate specialized organ for left-right purposes called the Gastrocoel Roof Plate (GRP) and Kupffer’s Vesicle (KV), respectively. It is known that mouse and chick organizer cells give rise to structures like floor plate, notochord, hypochord and somites. Frog GRP originates all these but floor plate. In zebrafish, at 13-14 somite stage (ss) the KV finished its left-right patterning but what happens to this organizer’ cells is still poorly studied. This research attempts to understand the fate and behaviour of the KV cells. We followed the fate of KV cells by live imaging and by tight time-courses with fixed larvae. We assessed in detail their proliferative and death profile, as well as cilia length progression from 9-10 ss until 29-30 ss. We conclude that the KV cells mostly follow the evolutionarily conserved fates described for other organizers. These cells mainly incorporate the notochord and hypochord; few cells incorporate the floor plate and the somites. As a novelty, it is also hypothesized that the hypural cell fate may be among the KV cell fates.

The existence of only one haplotype of Leishmania major in the main and potential reservoir hosts of zoonotic cutaneous leishmaniasis using different molecular markers in a focal area in Iran

IntroductionLeishmania major is the causative agent of zoonotic cutaneous leishmaniasis (ZCL), and great gerbils are the main reservoir hosts in Iran. Abarkouh in central Iran is an emerging focal point for which the reservoir hosts of ZCL are unclear. This research project was designed to detect any Leishmania parasites in different wild rodent species.MethodsAll rodents captured in 2011 and 2012 from Abarkouh district were identified based on morphological characteristics and by amplification of the rodent cytochrome b (Cyt b) gene. To detect Leishmania infection in rodents, deoxyribonucleic acid (DNA) of each ear was extracted. Internal transcribed spacer-ribosomal deoxyribonucleic acid (ITS-rDNA), microsatellites, kinetoplast deoxyribonucleic acid (kDNA) and cytochrome b genes of Leishmania parasites were amplified by polymerase chain reaction (PCR). Restriction fragment length polymorphism (RFLP) and sequencing were employed to confirm the Leishmania identification.ResultsOf 68 captured rodents in the region, 55 Rhombomys opimus were identified and nine Leishmaniainfections (9/55) were found. In addition, eight Meriones libycus and two Tatera indicawere sampled, and one of each was confirmed to be infected. Two Meriones persicus and one Mus musculuswere sampled with no infection.ConclusionsThe results showed that all 11 unambiguously positive Leishmania infections were Leishmania major. Only one haplotype of L. major(GenBank access No. EF413075) was found and at least three rodents R. opimus, M. libycus and T. indica—appear to be the main and potential reservoir hosts in this ZCL focus. The reservoir hosts are variable and versatile in small ZCL focal locations.

Design and implementation of an assurance map at Sonae retail business

The present Working Project aims at studying the topic of assurance mapping in a specific organizational context of a Portuguese retail company. For this purpose, an assurance map framework was designed to support the decision making process of stakeholders, through the delivery of comfort concerning risks, operations and control. In the end, the framework was successfully implemented for the process sourcing of goods in two business units of the company. Although, further implementation of the framework proved not to be feasible during the project’s timespan, it is expected to occur in the near future.

Nicolas Sanson and his Map: The Course of the Amazon River

One of the first scientific maps of the Amazon region, The Course of the Amazon River (Le Cours de La Rivière des Amazones), was constructed by Nicolas Sanson, a French cartographer of the seventeenth century, and served as the prototype for many others. The evaluation of this chart, until now, has been that it is a very defective map, a sketch based on a historical account, according to the opinion of La Condamine. Thus, the aim of the present work was to prove that the map of the Amazon River traced by Nicolas Sanson is a scientific work, a map that presents precise geographic coordinates considering its time, shows a well-determined prime meridian, and also employs a creative methodology to deduce longitudes from latitudes and distances that had been covered. To show such characteristics, an analysis of the accuracy of the map was made by comparing its latitudes and longitudes with those of a current map. We determined the prime meridian of this map and analyzed the methodology used for the calculation of longitudes. The conclusion is that it is actually a good map for the time, particularly considering the technology and the limited information that Sanson had at his disposal. This proves that the negative assertion of La Condamine is unfounded.

The Ovimbundu of Angola / by Wilfrid D. Hambly --. Frederick H. Rawson-Field Museum Ethnological Expedition to West Africa, 1929-30. 84 plates in photogravure and 1 map. Berthold Laufer -- editor.

v.21:no.2(1934)

Culture areas of Nigeria, by Wilfrid D. Hambly -- Frederick H. Rawson-Field Museum Ethnological Expedition to West Africa, 1929-30. 68 plates in photogravure and 1 map.

v.21:no.3(1935)

Data size sufficiency analyses of haplotype inference algortihms

We present experimental and theoretical analyses of data requirements for haplotype inference algorithms. Our experiments include a broad range of problem sizes under two standard models of tree distribution and were designed to yield statistically robust results despite the size of the sample space. Our results validate Gusfield's conjecture that a population size of n log n is required to give (with high probability) sufficient information to deduce the n haplotypes and their complete evolutionary history. The experimental results inspired our experimental finding with theoretical bounds on the population size. We also analyze the population size required to deduce some fixed fraction of the evolutionary history of a set of n haplotypes and establish linear bounds on the required sample size. These linear bounds are also shown theoretically.