Morphology of breast cancer as a means of triage of patients for BRCA1 genetic testing

Background: Women who have germline mutations in the BRCA1 gene are at substantially increased lifetime risk of developing breast and ovarian cancer but are otherwise normal. Currently. early age of onset of cancer and a strong family history are relied upon as the chief clues as to who should be offered genetic testing. Certain morphologic and immunohistochemical features are overrepresented in BRCA1-associated breast cancers but these differences have not been incorporated into the current selection criteria for genetic testing. Design: Each of the 4 pathologists studied 30 known cases of BRCA1- and BRCA2-associated breast cancer from kConFab families. After reviewing the literature, we agreed on a semiquantitative scoring system for estimating the chances of presence of an underlying BRCA1 mutation, based on the number of the reported prototypic features present. After a time lag of 12 months, we each examined a series of 62 deidentified cases of breast cancer, inclusive of cases of BRCA1-associated breast cancer and controls. The controls included cases of BRCA2-associated breast cancer and sporadic cases. Results: Our predictions had a sensitivity of 92%, specificity of 86%, positive predictive value of 61%, and negative predictive value of 98%. For comparison the sensitivity of currently used selection criteria are in the range of 25% to 30%. Conclusion: The inclusion of morphologic and immunohistochemical features of breast cancers in algorithms to predict the likelihood of presence of germline mutations in the BRCA1 gene improves the accuracy of the selection process.

EFEITOS ESQUELÉTICOS DA TRAÇÃO REVERSA DA MAXILA UTILIZANDO TOMOGRAFIA COMPUTADORIZADA

Este estudo avaliou os efeitos esqueléticos da tração reversa da maxila utilizando imagens 2D (telerradiografia lateral) geradas a partir da tomografia de feixe cônico (imagens 3D). A amostra foi composta por 20 crianças (15 do gênero feminino, e 5 do masculino), com idade variando de 5,6 a 10,7 anos que apresentavam má-oclusão de Classe III de Angle. A tomografia foi realizada antes do tratamento (T1) e logo após o tratamento (T2). O tratamento foi realizado por meio da tração reversa da maxila utilizando-se o aparelho expansor Hyrax associado à máscara facial individualizada, com força de 600 a 800g de cada lado, durante 14 horas por dia. A correção da relação de caninos em Classe I ou com sua sobrecorreção em Classe II foi obtida após 4 a 8 meses de tratamento. Para verificar o erro sistemático e casual foi utilizado o teste t pareado e a fórmula de Dahlberg, respectivamente. O teste t pareado (p<0,05) mostrou diferença significante entre as medidas cefalométricas obtidas em T1 e T2. Na maxila houve aumento do SNA 2,2°, A-Nperp 1,47mm e em Co-A 2,58mm. Na mandíbula, SNB diminuiu -0,54° e P-Nperp, -1,45mm, enquanto Co-Gn aumentou 1,04mm. Houve melhora na relação maxilo-mandibular ANB 2,74° e Wits 4,23mm. As variáveis GoGn.SN, Gn.SN, FH.Md, Mx.Md, e AFAI aumentaram demonstrando que houve uma rotação da mandíbula no sentido horário. O plano palatino rotacionou no sentido anti-horário. Pode se concluir que o tratamento de tração reversa da maxila na idade precoce promoveu uma melhora na relação maxilo-mandibular devido a um avanço da maxila e um deslocamento da mandíbula para baixo e para trás.

Creutzfeldt-Jakob disease and vision

This review describes a group of diseases known as the transmissible spongiform encephalopathies (TSEs), which affect animals and humans. Examination of affected brain tissue suggests that these diseases are caused by the acquisition and deposition of prion protein (PrP). Creutzfeldt-Jakob disease (CJD) is the most important form of TSE in humans with at least four different varieties of the disease. Variant CJD (vCJD), a new form of the disease found in the UK, has several features that differ from the classical forms including early age of onset, longer duration of disease, psychiatric presentation (for example, depression) and extensive florid plaque development in the brain. About 10 per cent of patients with CJD exhibit visual symptoms at disease presentation and approximately 50 per cent during the course of the disease. The most commonly reported visual symptoms include diplopia, supranuclear palsies, complex visual disturbances, homonymous visual field defects, hallucinations and cortical blindness. Saccadic and smooth pursuit movements appear to be more rarely affected. The agent causing vCJD accumulates in lymphoid tissue such as the spleen and tonsils. The cornea has lymphoid tissue in the form of corneal dendritic cells that are important in the regulation of the immune response in the anterior segment of the eye. The presence of these cells in the cornea has raised the possibility of transmission between patients via optical devices that contact the eye. Although such transmission is theoretically possible it remains highly improbable.

Forging futures? Engineering in the primary school curriculum

Starting with the research question, "How can the Primary School Curriculum be developed so as to spark Children's Engineering Imaginations from an early age?" this paper sets out to critically analyse the issues around embedding Engineering in the Primary School Curriculum from the age of 5 years. Findings from an exploratory research project suggest that in order to promote the concept of Engineering Education to potential university students (and in doing so begin to address issues around recruitment / retention within Engineering) there is a real need to excite and engage children with the subject from a young age. Indeed, it may be argued that within today's digital society, the need to encourage children to engage with Engineering is vital to the future sustainable development of our society. Whilst UK Government policy documents highlight the value of embedding Engineering into the school curriculum there is little or no evidence to suggest that Engineering has been successfully embedded into the elementary level school curriculum. Building on the emergent findings of the first stage of a longitudinal study, this paper concludes by arguing that Engineering could be embedded into the curriculum through innovative pedagogical approaches which contextualise project-based learning experiences within more traditional subjects including science, history, geography, literacy and numeracy.

Development of a Game-Based Mathematics Curriculum for Preschool

America’s deficiency in mathematics can be benefitted by an emphasis in mathematics from an early age. An effective math curriculum for preschool should consist of the most important aspects of early childhood mathematics, including number writing and identification, one-to-one correspondence, cardinality, number comparison, ordinality, number sequence, and number bonds.

Racial/ethnic differences on the body image perceptions and weight concerns of fourth grade girls

The purpose of this study was to determine the racial and ethnic differences on body image perceptions and weight concerns of fourth grade girls. A purposive sample of 182 fourth grade girls were eligible to participate, 166 were included in the data analysis. The Children's Eating Attitude Test (ChEAT) and a Dieting and Demographic Questionnaire (DDQ) were used to determine eating attitudes of fourth grade girls. A pictoral instrument that was modified from the original was used to assess body image. Anthropometric data was assessed and body mass index (BMI) values were used to classify subjects into percentiles. Results revealed that 56% of all fourth grade girls studied wanted to be thinner and 53% had tried to lose weight. Significantly more non-Hispanic white (NHW) girls reported wanting to be thinner than non-Hispanic black (NHB) and H girls (65.5% vs.32% and 47%, respectively, P=0.005) No significant racial/ethnic differences were revealed for the ChEAT scores. However, 19% of all subjects studied fell into the category indicative of anorexia nervosa. H girls who were less than the 85" %tile for BMI chose significantly smaller figures as their perceived body image (3.5±0.7) than both NHB and NHW girls (4.0±0.6 and 3.9±0.5, respectively, P<0.01). These findings demonstrated that weight concerns were prevalent among girls ages 9- 11 years. NHW and H girls may have more concerns about their body size and shape than their NHB counterparts. Implementing intervention programs at an early age may prevent eating disorders in adolescence and adulthood.

'Catching them young':inspiring future engineers, an exploratory study

The requirement that primary school children appreciate fully the pivotal role played by engineering in the sustainable development of future society is reflected in the literature with much attention being paid to the need to spark childrens engineering imagination early-on in their school careers. Moreover, UK policy documents highlight the value of embedding engineering into the school curriculum, arguing that programmes aimed at inspiring children through a process of real-life learning experiences are vital pedagogical tools in promoting engineering to future generations. Despite such attention, engineering education at school-level remains sporadic, often reliant on individual engineering-entrepreneurs such as teachers who, through personal interest, get children involved in what are usually extra-curriculum, time-limited engineering focused programmes and competitions. This paper briefly discusses an exploratory study aimed at investigating the issues surrounding embedding engineering into the primary school curriculum. It gives some insight into the perceptions of various stakeholders in respect of the viability and value of introducing engineering education into the primary school curriculum from the age of 6 or 7. A conceptual framework of primary level engineering education, bringing together the theoretical, pedagogical and policy related phenomena influencing the development of engineering education is proposed. The paper concludes by arguing that in order to avert future societal disaster, childrens engineering imagination needs to be ignited from an early age and that to do this primary engineering education needs to be given far more educational, social and political attention. © 2009 Authors.

Using parent report to assess bilingual vocabulary acquisition: a model from Irish

This chapter describes the adaptation of a parent report instrument on early language development to a bilingual context. Beginning with general issues of adapting tests to any language, particular attention is placed on the issue of using parents as evaluators of child language acquisition of a minority language in a bilingual context. In Ireland, Irish is the first official language and is spoken by about 65,000 people on a daily basis. However all Irish speakers are bilingual, and children are exposed to the dominant English language at an early age. Using an adaptation of a parent report instrument, 21 typically developing children between 16 and 40 months were assessed repeatedly over two years to monitor their language development. The form allowed parents to document their children’s vocabulary development in both languages. Results showed that when knowledge of both languages was accounted for, the children acquired vocabulary at rates similar to those of monolingual speakers and used translational equivalents relatively early in language development. The study also showed that parents of bilingual children could accurately identify and differentiate language development in both of the child’s languages. Recommendations for adapting and using parent report instruments in bilingual language acquisition contexts are outlined.

Adolescent substance use in the context of the family: a qualitative study of young people’s views on parent-child attachments, parenting style and parental substance use

Background: Adolescent substance use can place youth at risk of a range of poor outcomes. Few studies have attempted to explore in-depth young people’s perceptions of how familial processes and dynamics influence adolescent substance use.
Objectives: This paper aimed to explore risk and protective factors for youth substance use within the context of the family with a view to informing family based interventions.
Methods: Nine focus groups supplemented with participatory techniques were facilitated with a purposive sample of sixty-two young people (age 13-17 years) from post-primary schools across Northern Ireland. The data were transcribed verbatim and analysed using thematic analysis.
Results: Three themes emerged from the data: 1) parent-child attachments, 2) parenting style and 3) parental and sibling substance misuse. Parent-child attachment was identified as an important factor in protecting adolescents from substance use in addition to effective parenting particularly an authoritative style supplemented with parental monitoring and strong parent-child communication to encourage child disclosure. Family substance use was considered to impact on children’s substance use if exposed at an early age and the harms associated with parental substance misuse were discussed in detail. Both parent and child gender differences were cross-cutting themes.
Conclusion: Parenting programmes (tailored to mothers and fathers) may benefit young people via components on authoritative styles, parental monitoring, communication, nurturing attachments and parent-child conflict. Youth living with more complex issues, e.g. parental substance misuse, may benefit from programmes delivered beyond the family environment e.g. school based settings.

Resistance of alkali activated slag concretes to chloride environments

ABSTRACT: Researchers are focusing their attention on alternative binder systems using 100% supplementary cementitious materials as it allows better control over the microstructure formation and low to moderate environmental footprint. One such system being considered is alkali activated slag concretes (AASC), made by adding alkalis such as sodium hydroxide and sodium silicate to ground granulated blast furnace slag (GGBS). Whilst they have a similar behaviour as that of traditional cement systems in terms of strength and structural behaviour, AASC are reported to exhibit superior performance in terms of abrasion,acid resistance and fire protection.
In this article, the authors investigate chloride ingress into different grades of AASC. The mix variables in AASC included water to binder, and binder to aggregate ratio, percentage of alkali and the SiO2/Na2O ratio (silica modulus, Ms). The first challenge was to develop mixes for different range of workability (with slump values from 40mm to 240mm) and reasonable early age and long term compressive strength. Further chloride ingress into those mixes were assessed and compared with the data from normal concretes based on literature. Findings show that compared to the PC concretes, the AAS concretes have lower rate of chloride ingress.

Handmade Education : Interactive Food for Children`s Learning

Back to the early age of human history, Human thought of food as any substance that provides nutrition for the body. Man needed to hunt animals for food. Nowadays, Food is consumed not just to stop hunger of the body, but it also feeds the souls. Food has already been used for many other objectives apart from eating such as for artistic creations and creative marketing campaigns. Likewise, this research will also show a new perspective of food – Food as an educational material for children.

A Palatable Hyperlipidic Diet Causes Obesity and Affects Brain Glucose Metabolism in Rats

Background We have previously shown that either the continuous intake of a palatable hyperlipidic diet (H) or the alternation of chow (C) and an H diet (CH regimen) induced obesity in rats. Here, we investigated whether the time of the start and duration of these feeding regimens are relevant and whether they affect brain glucose metabolism. Methods Male Wistar rats received C, H, or CH diets during various periods of their life spans: days 30-60, days 30-90, or days 60-90. Experiments were performed the 60th or the 90th day of life. Rats were killed by decapitation. The glucose, insulin, leptin plasma concentration, and lipid content of the carcasses were determined. The brain was sliced and incubated with or without insulin for the analysis of glucose uptake, oxidation, and the conversion of [1-14C]-glucose to lipids. Results The relative carcass lipid content increased in all of the H and CH groups, and the H30-60 and H30-90 groups had the highest levels. Groups H30-60, H30-90, CH30-60, and CH30-90 exhibited a higher serum glucose level. Serum leptin increased in all H groups and in the CH60-90 and CH30-90 groups. Serum insulin was elevated in the H30-60, H60-90, CH60-90, CH30-90 groups. Basal brain glucose consumption and hypothalamic insulin receptor density were lower only in the CH30-60 group. The rate of brain lipogenesis was increased in the H30-90 and CH30-90 groups. Conclusion These findings indicate that both H and CH diet regimens increased body adiposity independent treatment and the age at which treatment was started, whereas these diets caused hyperglycemia and affected brain metabolism when started at an early age.

Erythrocyte Phospholipid Molecular Species and Fatty Acids of Down Syndrome Children Compared with Non-affected Siblings

The majority of children with Down syndrome (DS) develop Alzheimer's disease (AD) at an early age. Although long-chain n-3 fatty acids (FA) are protective of neurodegeneration, little is known about the FA status in DS. In the present study, we aimed to investigate whether children with DS presented altered plasma and erythrocyte membrane phospholipids (PL) FA composition, when compared with their non-affected siblings. Venous blood samples were analysed for plasma and erythrocyte membrane FA composition by TLC followed by GC techniques. Lipid molecular species were determined by electrospray ionisation/tandem MS (ESI-MS/MS). FA analysis measured by standard GC showed an increased concentration of MUFA and a decreased concentration of plasmalogens in major PL fractions, but there were no differences in the concentrations of arachidonic acid or DHA. However, as identified by ESI-MS/MS, children with DS had increased levels of the following erythrocyte PL molecular species: 16 : 0–16 : 0, 16 : 0–18 : 1 and 16 : 0–18 : 2n-6, with reduced levels of 16 : 0–20 : 4n-6 species. Children with DS presented significantly higher levels of MUFA in both plasma and erythrocyte membrane, as well as higher levels of saturated and monounsaturated molecular species. Of interest was the almost double proportion of 16 : 0–18 : 2n-6 and nearly half the proportion of 16 : 0–20 : 4n-6 of choline phosphoacylglycerol species in children with DS compared with their non-affected siblings. These significant differences were only revealed by ESI-MS/MS and were not observed in the GC analysis. Further investigations are needed to explore molecular mechanisms and to test the association between the pathophysiology of DS and the risk of AD.

Évolution des aptitudes physiques et motrices d’élèves-athlètes inscrits dans un programme de spécialisation sportive et d’élèves-athlètes inscrits dans un programme de diversification sportive.

Résumé : L’entrainement sportif est « un processus de perfectionnement de l’athlète dirigé selon des principes scientifiques et qui, par des influences planifiées et systématiques (charges) sur la capacité de performance, vise à mener le sportif vers des performances élevées et supérieures dans un sport ou une discipline sportive » (Harre, 1982). Un entrainement sportif approprié devrait commencer dès l’enfance. Ainsi, le jeune sportif pourrait progressivement et systématiquement développer son corps et son esprit afin d’atteindre l’excellence sportive (Bompa, 2000; Weineck, 1997). Or plusieurs entraineurs, dans leur tentative de parvenir à des résultats de haut niveau rapidement, exposent les jeunes athlètes à une formation sportive très spécifique et rigoureuse, sans prendre le temps de développer convenablement les aptitudes physiques et motrices et les habiletés motrices fondamentales sous-jacentes aux habiletés sportives spécifiques (Bompa, 2000), d’où l’appellation « spécialisation hâtive ». Afin de contrer les conséquences néfastes de la spécialisation hâtive, de nouvelles approches d’entrainement ont été proposées. Une des façons d’y arriver consisterait notamment à pratiquer différents sports en bas âge (Fraser-Thomas, Côté et Deakin, 2008; Gould et Carson, 2004; Judge et Gilreath, 2009; LeBlanc et Dickson, 1997; Mostafavifar, Best et Myer, 2013), d’où l’appellation « diversification sportive ». Plusieurs organisations sportives et professionnelles ont décidé de valoriser et de mettre en place des programmes basés sur la diversification sportive (Kaleth et Mikesky, 2010). C’est donc à la suite d’une prise de conscience des effets néfastes de la spécialisation hâtive que des professionnels de l’activité physique d’une école secondaire du Québec (éducateur physique, kinésiologue et agent de développement sportif) ont mis en place un programme multisports-études novateur au premier cycle du secondaire, inspiré des sciences du sport et des lignes directrices du modèle de développement à long terme de l’athlète (DLTA) (Balyi, Cardinal, Higgs, Norris et Way, 2005). Le présent projet de recherche porte sur le développement des aptitudes physiques et motrices chez de jeunes sportifs inscrits à un programme de spécialisation sportive et de jeunes sportifs inscrits à un programme de diversification sportive à l’étape « S’entrainer à s’entrainer » (12 à 16 ans) du modèle de développement à long terme de l’athlète (Balyi et al., 2005). L’objectif principal de cette étude est de rendre compte de l’évolution des aptitudes physiques et motrices de jeunes élèves-athlètes inscrits, d’une part, à un programme sport-études soccer (spécialisation) et, d’autre part, à un programme multisports-études (diversification). Plus spécifiquement, cette étude tente de (a) dresser un portrait détaillé de l’évolution des aptitudes physiques et motrices des élèves-athlètes de chaque programme et de faire un parallèle avec la planification annuelle de chaque programme sportif et (b) de rendre compte des différences d’aptitudes physiques et motrices observées entre les deux programmes. Le projet de recherche a été réalisé dans une école secondaire de la province de Québec. Au total, 53 élèves-athlètes de première secondaire ont été retenus pour le projet de recherche selon leur volonté de participer à l’étude, soit 23 élèves-athlètes de première secondaire inscrits au programme sport-études soccer et 30 élèves-athlètes de première secondaire inscrits au programme multisports-études. Les élèves-athlètes étaient tous âgés de 11 à 13 ans. Treize épreuves standardisées d’aptitudes physiques et motrices ont été administrées aux élèves-athlètes des deux programmes sportifs en début, en milieu et en fin d’année scolaire. Le traitement des données s’est effectué à l’aide de statistiques descriptives et d’une analyse de variance à mesures répétées. Les résultats révèlent que (a) l’ensemble des aptitudes physiques et motrices des élèves-athlètes des deux programmes sportifs se sont améliorées au cours de l’année scolaire, (b) il est relativement facile de faire un parallèle entre l’évolution des aptitudes physiques et motrices des élèves-athlètes et la planification annuelle de chaque programme sportif, (c) les élèves-athlètes du programme multisports-études ont, en général, des performances semblables à celles des élèves-athlètes du programme sport-études soccer et (d) les élèves-athlètes du programme sport-études soccer ont, au cours de l’année scolaire, amélioré davantage leur endurance cardiorespiratoire, alors que ceux du programme multisports-études ont amélioré davantage (a) leur vitesse segmentaire des bras, (b) leur agilité à l’épreuve de course en cercle et (c) leur puissance musculaire des membres inférieurs, confirmant ainsi que les aptitudes physiques et motrices développées chez de jeunes athlètes qui se spécialisent tôt sont plutôt spécifiques au sport pratiqué (Balyi et al., 2005; Bompa, 1999; Cloes, Delfosse, Ledent et Piéron, 1994; Mattson et Richards, 2010), alors que celles développées à travers la diversification sportive sont davantage diversifiées (Coakley, 2010; Gould et Carson, 2004; White et Oatman, 2009). Ces résultats peuvent s’expliquer par (a) la spécificité ou la diversité des tâches proposées durant les séances d’entrainement, (b) le temps consacré à chacune de ces tâches et (c) les exigences reliées à la pratique du soccer comparativement aux exigences reliées à la pratique de plusieurs disciplines sportives. Toutefois, les résultats obtenus restent complexes à interpréter en raison de différents biais : (a) la maturation physique, (b) le nombre d’heures d’entrainement effectué au cours de l’année scolaire précédente, (c) le nombre d’heures d’entrainement offert par les deux programmes sportifs à l’étude et (d) les activités physiques et sportives pratiquées à l’extérieur de l’école. De plus, cette étude ne permet pas d’évaluer la qualité des interventions et des exercices proposés lors des entrainements ni la motivation des élèves-athlètes à prendre part aux séances d’entrainement ou aux épreuves physiques et motrices. Finalement, il serait intéressant de reprendre la présente étude auprès de disciplines sportives différentes et de mettre en évidence les contributions particulières de chaque discipline sportive sur le développement des aptitudes physiques et motrices de jeunes athlètes.

Avaliação de literacia financeira da nova geração portuguesa

A educação financeira deve ser entendida como um conjunto amplo de orientações e esclarecimentos sobre comportamentos e atitudes adequados na gestão e no uso dos recursos financeiros pessoais. É a capacidade de saber utilizar o dinheiro como ferramenta para tornar a vida melhor, mais produtiva e mais equilibrada. Saber lidar com o dinheiro é indispensável para o bem estar de cada pessoa. Ter acesso à educação financeira possibilita-nos consumir com inteligência e sem exageros, ensina-nos a prever despesas e a investir adequadamente. Dada a importância deste tema, é essencial que as crianças tenham, desde cedo, contacto com o assunto, introduzindo a Educação Financeira nos currículos das Escolas. O presente trabalho pretende contribuir para averiguar qual o nível de literacia financeira de um grupo da nova geração portuguesa, traçando um perfil no que se refere ao conhecimento de conceitos financeiros e aos fatores que o influenciam. Utilizando os resultados desta avaliação, foi possível elaborar um programa de Educação Financeira, indo ao encontro das necessidades específicas dos alunos em questão. Numa análise global, os resultados obtidos mostram um cenário um pouco preocupante no que respeita aos níveis de literacia financeira do grupo em análise, relativamente a alguns aspetos, como o crédito. Os resultados sugerem a existência de alguns fatores que poderão influenciar o nível de literacia, tais como a discussão de assuntos no domínio das finanças pessoais, tanto em casa, como na escola e a participação em atividades lúdicas ligadas à matemática, entre outros. A análise de clusters realizada possibilitou a identificação de quatro grupos de inquiridos, com diferentes conhecimentos sobre literacia financeira e diferentes estratégias de gestão das suas finanças pessoais.