De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype

The demonstration that mutations in the Patched (PTCH) gene cause nevoid basal cell carcinoma syndrome (NBCCS) has led to the identification of the exact molecular lesion in a percentage of individuals with the syndrome, In addition, it has been possible to determine, through molecular analysis of parents and other relatives of these individuals, if the mutation is inherited or has arisen de novo, We have previously reported 28 mutations in individuals with NBCCS, and here we present an additional 4 novel mutations, We have also analyzed relatives of a number of the individuals in whom we have found mutations, In total we have identified 8 individuals who carry a de novo mutation in the PTCH gene, In 5 of these cases, clinical and radiological examination had not unequivocally ruled out a diagnosis in one of the parents, This helps to define the clinical phenotype and suggests that diagnostic criteria in this complex syndrome may require review. (C) 1997 Wiley-Liss, Inc.

Ultrasound Propagation Velocity and Broadband Attenuation Can Help Evaluate the Healing Process of an Experimental Fracture

Ultrasonometry seems to have a future for the evaluation of fracture healing. Ultrasound propagation velocity (USPV) significantly decreases at the same time that bone diameter decreases as healing takes place, thus approaching normal values. In this investigation, both USPV and broadband ultrasound attenuation (BUA) were measured using a model of a transverse mid-diaphyseal osteotomy of sheep tibiae. Twenty-one sheep were operated and divided into three groups of seven, according to the follow-up period of 30, 60, and 90 days, respectively. The progress of healing of the osteotomy was checked with monthly conventional radiographs. The animals were killed at the end of the period of observation of each group, both operated-upon and intact tibiae being resected and submitted to the measurement of underwater transverse and direct contact transverse and longitudinal USPV and BUA at the osteotomy site. The intact left tibia of the 21 animals was used for control, being examined on a symmetrical diaphyseal segment. USPV increased while BUA decreased with the progression of healing, with significant differences between the operated and untouched tibiae and between the periods of observation, for most of the comparisons. There was a strong negative correlation between USPV and BUA. Both USPV and BUA directly reflect and can help predict the healing of fractures, but USPV alone can be used as a fundamental parameter. Ultrasonometry may be of use in clinical application to humans provided adequate adaptations can be developed. (C) 2010 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 29:444-451, 2011

Shopping for apparel: how can kiosk systems help?

When shopping for apparel, many consumers seek advice from friends and family or store personnel. In-store kiosk systems might serve as an alternative decision support system. In the present study we address the key question of how such kiosk systems are evaluated by consumers. We conducted three focus group discussions with regular apparel shoppers aged between 23 and 39 years. In sum, qualitative information from 15 participants was subject to a qualitative content analysis with the aim of gaining a more comprehensive understanding of how apparel shoppers experience the shopping process. Getting a more in-depth understanding of the needs and wishes associated with the apparel shopping process gives a basis for evaluating the potential acceptance of electronic decision support systems in apparel shopping. Although our study is exploratory in nature, we are able to draw an initial picture of how kiosk systems could be used in apparel shopping.

How can we help students to improve their creativity? – lessons learned from a case study

One of the main concerns of today’s organizations is to cope with the rapid pace of change while maintaining their competitive advantage. This means that firms must be innovative, create new knowledge and have new ideas constantly. Similarly, one of the main concerns of lecturers is to help students to develop creativity. According to some authors, new ideas, new thoughts, innovation can arise in an appropriate environment and with the development and train of adequate competences and skills. This means that although some persons were born more creative than others, it is possible to help those less creative to improve their innovative capacities and competences. The question that remains now is “how”. How can we, as lecturers and educators help our students to become more creative? In this paper we describe a Portuguese case study that took place at ISCAP (School of Accountancy and Administration of Porto – Portugal), in the course of Business Communication, in the unit “Marketing Communication” (3rd year (1st Bologna cycle), 1st semester). We will describe and characterize the situation at the beginning of the semester (situation A), explain the tasks and activities proposed to students and the final result (situation A2). We will discuss differences between situation A and A2, formulate some hypotheses concerning differences and draw some recommendations.

Fatores influenciadores da gestão da qualidade e independência do auditor: um estudo de caso

Dissertação apresentada ao Instituto Superior de Contabilidade para obtenção do Grau de Mestre em Auditoria Orientada por: Doutora Alcina Dias

Can power laws help us understand gene and proteome information?

Proteins are biochemical entities consisting of one or more blocks typically folded in a 3D pattern. Each block (a polypeptide) is a single linear sequence of amino acids that are biochemically bonded together. The amino acid sequence in a protein is defined by the sequence of a gene or several genes encoded in the DNA-based genetic code. This genetic code typically uses twenty amino acids, but in certain organisms the genetic code can also include two other amino acids. After linking the amino acids during protein synthesis, each amino acid becomes a residue in a protein, which is then chemically modified, ultimately changing and defining the protein function. In this study, the authors analyze the amino acid sequence using alignment-free methods, aiming to identify structural patterns in sets of proteins and in the proteome, without any other previous assumptions. The paper starts by analyzing amino acid sequence data by means of histograms using fixed length amino acid words (tuples). After creating the initial relative frequency histograms, they are transformed and processed in order to generate quantitative results for information extraction and graphical visualization. Selected samples from two reference datasets are used, and results reveal that the proposed method is able to generate relevant outputs in accordance with current scientific knowledge in domains like protein sequence/proteome analysis.

Can ERASMUS mobility really help crossing borders? the in and out of a case-study

As lectures, but above all, as Erasmus....

A arte contemporânea enquanto elemento facilitador da auto valorização dos jovens perante as suas criações artísticas

Dissertação apresentada à Escola Superior de Educação de Lisboa para obtenção de grau de mestre em Educação Artística, na Especialização de Artes Plásticas na Educação

Design and implementation of an autonomous, proactive, and reactive software infrastructure to help improving the management level of projects

Dissertação apresentada na Faculdade de Ciências e Tecnologia da Universidade Nova de Lisboa para obtenção do grau de Mestre em Engenharia Electrotécnica e de Computadores

Evolution of subpatent parasitaemia in Trypanosoma cruzi chronically infected mice with the help of a cyclophosphamide amplification transfer assay

We have evaluated the sensitivity of the classical blood subinoculation method, modified through cyclophosphamide treatment of transferred mice, for the detection of occult parasitaemias in Trypanosoma cruzi chronically infected mice. Besides its simplicity, the method was shown to be highly sensitive for both the "chronic" phase parasites (99% of chronic cases were shown to harbour occult parasitaemias) and for the acute phase parasites (T. cruzi could be detected in 53.8% of animals transferred with one Y strain parasite and in 20% of animals transferred with one CL strain parasite). Using acute phase bloodforms, the assay proved to be more sensitive than conventional subinoculation when dealing with the CL, but not the Y strain of the parasite. With the help of this parasite detection tool, we have studied during a one year period, the evolution of subpatent parasitaemias in a group of mice which survived through chemotherapy from lethal acute phase of T. cruzi infection. Cyclophosphamide transfer assay revealed occult parasitaemias in 100% of the chronic animals, nevertheless, continuous and discontinuous patterns of positivity were observed.