Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene

CONTEXT: Thyroid transcription factor 1 (TITF1/NKX2.1) is expressed in the thyroid, lung, ventral forebrain, and pituitary. In the lung, TITF1/NKX2.1 activates the expression of genes critical for lung development and function. Titf/Nkx2.1(-/-) mice have pituitary and thyroid aplasia but also impairment of pulmonary branching. Humans with heterozygous TITF1/NKX2.1 mutations present with various combinations of primary hypothyroidism, respiratory distress, and neurological disorders. OBJECTIVE: The objective of the study was to report clinical and molecular studies of the first patient with lethal neonatal respiratory distress from a novel heterozygous TITF1/NKX2.1 mutation. Participant: This girl, the first child of healthy nonconsanguineous French-Canadian parents, was born at 41 wk. Birth weight was 3,460 g and Apgar scores were normal. Soon after birth, she developed acute respiratory failure with pulmonary hypertension. At neonatal screening on the second day of life, TSH was 31 mU/liter (N <15) and total T(4) 245 nmol/liter (N = 120-350). Despite mechanical ventilation, thyroxine, surfactant, and pulmonary vasodilators, the patient died on the 40th day. RESULTS: Histopathology revealed pulmonary tissue with low alveolar counts. The thyroid was normal. Sequencing of the patient's lymphocyte DNA revealed a novel heterozygous TITF1/NKX2.1 mutation (I207F). This mutation was not found in either parent. In vitro, the mutant TITF-1 had reduced DNA binding and transactivation capacity. CONCLUSION: This is the first reported case of a heterozygous TITF1/NKX2.1 mutation leading to neonatal death from respiratory failure. The association of severe unexplained respiratory distress in a term neonate with mild primary hypothyroidism is the clue that led to the diagnosis.

Comparison of three different brushing techniques to isolate and culture primary nasal epithelial cells from human subjects.

PURPOSE Primary nasal epithelial cells are used for diagnostic purposes in clinical routine and have been shown to be good surrogate models for bronchial epithelial cells in studies of airway inflammation and remodeling. We aimed at comparing different instruments allowing isolation of nasal epithelial cells. METHODS Primary airway epithelial cell cultures were established using cells acquired from the inferior surface of the middle turbinate of both nostrils. Three different instruments to isolate nasal cells were used: homemade cytology brush, nasal swab, and curette. Cell count, viability, time until a confluent cell layer was reached, and success rate in establishing cell cultures were evaluated. A standard numeric pain intensity scale was used to assess the acceptability of each instrument. RESULTS Sixty healthy adults (median with interquartile range [IQR] age of 31 [26-37] years) participated in the study. Higher number of cells (×10(5) cells/ml) was obtained using brushes (9.8 [5.9-33.5]) compared to swabs (2.4 [1.5-3.9], p < 0.0001) and curettes (5.5 [4.4-6.9], p < 0.01). Cell viability was similar between groups. Cells obtained by brushes had the fastest growth rate, and the success rate in establishing primary cell cultures was highest with brushes (90% vs. 65% for swabs and 70% for curettes). Pain was highest with curettes (VAS score 4.0 [3.0-5.0] out of 10). The epithelial phenotype of the cultures was confirmed through cytokeratin and E-cadherin staining. CONCLUSIONS All three types of instruments allow collection and growth of human nasal epithelial cells with good acceptability to study participants. The most efficient instrument is the nasal brush.

Is clipping the preferable technique to perform sympathicotomy? A retrospective study and review of the literature

PURPOSE Thoracoscopic sympathetic surgery is nowadays a broadly accepted technique in the treatment of primary hyperhidrosis as well as facial blushing. The objective of this study was to compare the two currently most commonly used methods for thoracic sympathicotomy: transection (ETS) and clipping (ETC.). METHODS This is a retrospective study on a total of 63 patients, who underwent rib-oriented sympathicotomy, either by transection (n = 36, 57 %) or by clipping (n = 27, 43 %). Moreover, the up-to-date international literature is reviewed concerning which level(s) of the sympathetic trunk should be addressed, depending on the patients underlying condition. Furthermore, the highly controversial topic of reversibility of sympathetic clipping is debated. RESULTS Our results confirm that clipping is at least as effective as transection of the sympathetic chain in the treatment of hyperhidrosis and facial blushing. Furthermore, the analysis of all larger studies on unclipping in humans shows a surprisingly high reported reversal rate between 48 and 77 %. CONCLUSIONS Depending on the symptoms of the patient, different levels of the sympathetic chain should be addressed. When a higher rib level such as R2 is approached, which more likely will result in moderate to severe compensatory sweating, clipping should be preferred as it seems that this technique has indeed a potential for reversibility. As demonstrated, this method is at least as effective as an irreversible transection of the sympathetic chain.

Community College Student Participation in Undergraduate Research: An Explanatory Case Study for Faculty and Research Mentors

This study adapted the current model of science undergraduate research experiences (URE's) and applied this novel modification to include community college students. Numerous researchers have examined the efficacy of URE's in improving undergraduate retention and graduation rates, as well as matriculation rates for graduate programs. However, none have detailed the experience for community college students, and few have employed qualitative methodologies to gather relevant descriptive data from URE participants. This study included perspectives elicited from both non-traditional student participants and the established laboratory community. The purpose of this study was to determine the effectiveness of the traditional model for a non-traditional student population. The research effort described here utilized a qualitative design and an explanatory case study methodology. Six non-traditional students from the Maine Community College System participated in this study. Student participants were placed in six academic research laboratories located throughout the state. Student participants were interviewed three times during their ten-week internship and asked to record their personal reflections in electronic format. Participants from the established research community were also interviewed. These included both faculty mentors and other student laboratory personnel. Ongoing comparative analysis of the textual data revealed that laboratory organizational structure and social climate significantly influence acculturation outcomes for non-traditional URE participants. Student participants experienced a range of acculturation outcomes from full integration to marginalization. URE acculturation outcomes influenced development of non-traditional students? professional and academic self-concepts. Positive changes in students? self-concepts resulted in greater commitment to individual professional goals and academic aspirations. The findings from this study suggest that traditional science URE models can be successfully adapted to meet the unique needs of a non-traditional student population – community college students. These interpretations may encourage post-secondary educators, administrators, and policy makers to consider expanded access and support for non-traditional students seeking science URE opportunities.

Pathway analysis of genome-wide association study data in primary biliary cirrhosisa

Genome-wide association studies (GWAS) have successfully identified several genetic loci associated with inherited predisposition to primary biliary cirrhosis (PBC), the most common autoimmune disease of the liver. Pathway-based tests constitute a novel paradigm for GWAS analysis. By evaluating genetic variation across a biological pathway (gene set), these tests have the potential to determine the collective impact of variants with subtle effects that are individually too weak to be detected in traditional single variant GWAS analysis. To identify biological pathways associated with the risk of development of PBC, GWAS of PBC from Italy (449 cases and 940 controls) and Canada (530 cases and 398 controls) were independently analyzed. The linear combination test (LCT), a recently developed pathway-level statistical method was used for this analysis. For additional validation, pathways that were replicated at the P <0.05 level of significance in both GWAS on LCT analysis were also tested for association with PBC in each dataset using two complementary GWAS pathway approaches. The complementary approaches included a modification of the gene set enrichment analysis algorithm (i-GSEA4GWAS) and Fisher's exact test for pathway enrichment ratios. Twenty-five pathways were associated with PBC risk on LCT analysis in the Italian dataset at P<0.05, of which eight had an FDR<0.25. The top pathway in the Italian dataset was the TNF/stress related signaling pathway (p=7.38×10 -4, FDR=0.18). Twenty-six pathways were associated with PBC at the P<0.05 level using the LCT in the Canadian dataset with the regulation and function of ChREBP in liver pathway (p=5.68×10-4, FDR=0.285) emerging as the most significant pathway. Two pathways, phosphatidylinositol signaling system (Italian: p=0.016, FDR=0.436; Canadian: p=0.034, FDR=0.693) and hedgehog signaling (Italian: p=0.044, FDR=0.636; Canadian: p=0.041, FDR=0.693), were replicated at LCT P<0.05 in both datasets. Statistically significant association of both pathways with PBC genetic susceptibility was confirmed in the Italian dataset on i-GSEA4GWAS. Results for the phosphatidylinositol signaling system were also significant in both datasets on applying Fisher's exact test for pathway enrichment ratios. This study identified a combination of known and novel pathway-level associations with PBC risk. If functionally validated, the findings may yield fresh insights into the etiology of this complex autoimmune disease with possible preventive and therapeutic application.^

The history of technology in education. A comparative study and forecast

Area, launched in 1999 with the Bologna Declaration, has bestowed such a magnitude and unprecedented agility to the transformation process undertaken by European universities. However, the change has been more profound and drastic with regards to the use of new technologies both inside and outside the classroom. This article focuses on the study and analysis of the technology’s history within the university education and its impact on teachers, students and teaching methods. All the elements that have been significant and innovative throughout the history inside the teaching process have been analyzed, from the use of blackboard and chalk during lectures, the use of slide projectors and transparent slides, to the use of electronic whiteboards and Internet nowadays. The study is complemented with two types of surveys that have been performed among teachers and students during the school years 1999 - 2011 in the School of Civil Engineering at the Polytechnic University of Madrid. The pros and cons of each of the techniques and methodologies used in the learning process over the last decades are described, unfolding how they have affected the teacher, who has evolved from writing on a whiteboard to project onto a screen, the student, who has evolved from taking handwritten notes to download information or search the Internet, and the educational process, that has evolved from the lecture to acollaborative learning and project-based learning. It is unknown how the process of learning will evolve in the future, but we do know the consequences that some of the multimedia technologies are having on teachers, students and the learning process. It is our goal as teachers to keep ourselves up to date, in order to offer the student adequate technical content, while providing proper motivation through the use of new technologies. The study provides a forecast in the evolution of multimedia within the classroom and the renewal of the education process, which in our view, will set the basis for future learning process within the context of this new interactive era.

The Influence of Space Layout, Technology and Teaching Approach on Student Learning: An Architectural Technology Perspective

Some would argue that there is a need for the traditional lecture format to be rethought in favour of a more active approach. However, this must form part of a bipartite strategy, considered in conjunction with the layout of any new space to facilitate alternative learning and teaching methods. With this in mind, this paper begins to examine the impact of the learning environment on the student learning experience, specifically focusing on students studying on the Architectural Technology and Management programme at Ulster University. The aim of this study is two-fold: to increase understanding of the impact of learning space layout, by taking a student centered approach; and to gain an appreciation of how technology can impact upon the learning space. The study forms part of a wider project being undertaken at Ulster University known as the Learning Landscape Transition Project, exploring the relationship between learning, teaching and space layout. Data collection was both qualitative and quantitative, with use of a case study supported by a questionnaire based on attitudinal scaling. A focus group was also used to further analyse the key trends resulting from the questionnaire. The initial results suggest that the learning environment, and the technology within it, can not only play an important part in the overall learning experience of the student, but also assist with preparation for the working environment to be experienced in professional life.

Effect of Al2O3 and Cr2O3 on loquidus temperatures in the cristobalite and tridymite primary phase fields of the MgO-"FeO"-SiO2 ststem in equilibrium with metallic iron

The effects of alumina and chromite impurities on the liquidus temperatures in the cristobalite/tridymite (SiO2) primary phase fields in the MgO-FeO-SiO, system in equilibrium with metallic iron have been investigated experimentally. Using high temperature equilibration and quenching followed by electron probe X-ray microanalysis (EPMA), liquiclus isotherms have been determined in the temperatures range 1 673 to 1 898 K. The results are presented in the form of pseudo-ternary sections of the MgO-FeO-SiO, system at 2, 3 and 5 wt% Al2O3, 2 wt% Cr2O3, and 2 wt% Cr2O3+2 wt% Al2O3. The study enables the liquidus to be described for a range of SiO2/MgO and MgO/FeO ratios. It was found that liquiclus temperatures in the cristobalite and tridymite primary phase fields, decrease significantly with the addition of Al2O3 and Cr2O3.

Good practice guide in learning and teaching

Once again this publication is produced to celebrate and promote good teaching and learning support and to offer encouragement to those imaginative and innovative staff who continue to wish to challenge students to learn to maximum effect. It is hoped that others will pick up some good ideas from the articles contained in this volume. We have again changed our approach for this 2007/08 edition (our fifth) of the Aston Business School Good Practice Guide. As before, some contributions were selected from those identifying interesting best practice on their Annual Module Reflection Forms in 2006/2007. Brookes? contribution this year is directly from her annual reflection. Other contributors received HELM (Research Centre in Higher Education Learning and Management) small research grants in 2006/2007. Part of the conditions were for them to write an article for this publication. We have also been less tight on the length of the articles this year. Some contributions are, therefore, on the way to being journal articles. HELM will be working with these authors to help develop these for publication. Looking back over the last five years it is brilliant to see how many different people have contributed over the years and, therefore, how much innovative learning and teaching work has been taking place in ABS over this time. In the first edition we were just pleased for people to write a few pages on their teaching. Now things have changed dramatically. The majority of the articles are grounded in empirical research (some funded by HELM small research grants) and Palmer?s article was produced as part of the University?s Postgraduate Certificate in Learning and Teaching. Most encouraging of all, four of this year?s articles have since been developed further and submitted to refereed journals. We await news of publication as we go to press. It is not surprising that how to manage large groups still remains a central theme of the articles, ABS has a large and still growing student body. Essex and Simpson have looked at trying to encourage students to attend taught sessions, on the basis that there is a strong correlation between attendance and higher performance. Their findings are forming the platform of a further study currently being carried out in the Undergraduate Programme. A number of the other articles concentrate on trying to encourage students to engage with study in an innovative way. This is particularly obvious in Shaw?s work. Everyone who has been around campus lately has had evidence that the students on Duncan?s modules have clearly been inspired. I found myself, for example, playing golf in the student dining room as part of this initiative! The articles by Jarzabkowski & Guilietti and Ho involved much larger surveys. This is another first for the Good Practice Guide and marks the first step on what will clearly be larger research efforts for these authors in this area. We look forward to the journal publications which will result from this work. The last articles are the result of HELM?s hosting of the national conference of the Higher Education Academy?s Business, Management, Accounting and Finance (BMAF) Subject Centre Conference in May 2007. Belal and Foster have written about their impressions of the Conference and Andrews has included the paper she gave. The papers on employability and widening participation are the centre of HELM?s current work. In the second volume we mentioned the launch of the School?s Research Centre in Higher Education Learning and Management (HELM). Since then HELM has stimulated a lot of activity across the School (and University) particularly linking research and teaching. A list of the HELM seminars for 2007/2008 is listed as Appendix 1 of this publication. Further details can be obtained from Catherine Foster (c.s.foster@aston.ac.uk), who coordinates the HELM seminars. We have also been working on a list of target journals to guide ABS staff who wish to publish in this area. These are included as Appendix 2 of this publication. May I thank the contributors for taking time out of their busy schedules to write the articles and to Julie Green, the Quality Manager, for putting the varying diverse approaches into a coherent and publishable form and for agreeing to fund the printing of this volume.

Good practice guide in learning and teaching

This is the second edition of our Aston Business School (ABS) Good Practice Guide and the enthusiasm of the contributors appears undiminished. I am again reminded that I work with a group of very committed, dedicated and professional colleagues. Once again this publication is produced to celebrate and promote good teaching across the School and to offer encouragement to those imaginative and innovative staff who continue to wish to challenge students to learn to maximum effect. It is hoped that others will pick up some good ideas from the articles contained in this volume. Contributors to this Guide were not chosen because they are the best teachers in the School, although they are undoubtedly all amongst my colleagues who are exponents of enthusiastic and inspiring approaches to learning. The Quality Unit approached these individuals because they declared on their Annual Module Reflection Forms that they were doing something interesting and worthwhile which they thought others might find useful. Amongst those reading the Guide I am sure that there are many other individuals who are trying to operate similar examples of good practice in their teaching, learning and assessment methods. I hope that this publication will provoke these people into providing comments and articles of their own and that these will form the basis of next year’s Guide. It may also provoke some people to try these methods in their own teaching. The themes of the articles this year can be divided into two groups. The first theme is the quest to help students to help themselves to learn via student-run tutorials, surprise tests and mock examinations linked with individual tutorials. The second theme is making learning come to life in exciting practical ways by, for example, hands-on workshops and simulations, story telling, rhetorical questioning and discussion groups. A common theme is one of enthusiasm, reflection and commitment on behalf of the lecturers concerned. None of the approaches discussed in this publication are low effort activities on the part of the facilitator, but this effort is regarded as worthwhile as a means of creating greater student engagement. As Biggs (2003)[1] says, in his similarly inspiring way, students learn more the less passive they are in their learning. (Ref). The articles in this publication bear witness of this and much more. Since last year Aston Business School has launched its Research Centre in Higher Education Learning and Management (HELM) which is another initiative to promote excellent learning and teaching. Even before this institution has become fully operational, at least one of the articles in this publication has seen the light of day in the research arena and at least two others are ripe for dissemination to a wider audience via journal publication. More news of our successes in this activity will appear in next year’s edition. May I thank the contributors for taking time out of their busy schedules to write the articles this summer, and to Julie Green who runs the ABS Quality Unit, for putting our diverse approaches into a coherent and publishable form and for chasing us when we have needed it! I would also like to thank Ann Morton and her colleagues in the Centre for Staff Development who have supported this publication. During the last year the Centre has further stimulated the learning and teaching life of the School (and the wider University) via their Learning and Teaching Week and sponsorship of Teaching Quality Enhancement Fund (TQEF) projects. Pedagogic excellence is in better health at Aston than ever before – long may this be because this is what life in HE should be about.

Developments in assessment and teaching methodologies in modern languages in England and France in response to educational reform (1975-1985)

This comparative study considers the main causative factors for change in recent years in the teaching of modern languages in England and France and seeks to contribute, in a general sense, to the understanding of change in comparable institutions. In England by 1975 the teaching of modern languages in the comprehensive schools was seen to be inappropriate to the needs of children of the whole ability-range. A combination of the external factor of the Council of Europe initiative in devising a needs-based learning approach for adult learners, and the internal factor of teacher-based initiatives in developing a graded-objectives learning approach for the less-able, has reversed this situation to some extent. The study examines and evaluates this reversal, and, in addition, assesses teachers' attitudes towards, and understanding of, the changes involved. In France the imposition of `la reforme Haby' in 1977 and the creation of `le college unique' were the main external factors for change. The subsequent failure of the reform and the socialist government's support of decentralisation policies returning the initiative for renewal to schools are examined and evaluated, as are the internal factors for changes in language-teaching - `groupes de niveau' and the creation of `equipes pedagogiques'. In both countries changes in the function of examinations at 15/16 plus are examined. The final chapter compared the changes in both education systems.

A bridge too far? Breaching the research/learning and teaching nexus in a previously research-led university

The relationship between research and learning and teaching represents what has been described as ‘amongst the most intellectually tangled, managerially complex and politically contentious issues in mass higher education’ (Scott, 2005, p 53). Despite this, arguments that in order to achieve high quality scholarly outcomes, university teachers need to adopt an approach to teaching similar to that of research (i.e. founded upon academic rigour and evidence), has long been discussed in the literature (see for example, Elton, 2005 & Healey, 2000). However, the practicalities of promoting an empirical and evidence-based approach to teaching within a research-led institution makes dealing with the research/learning and teaching nexus a somewhat challenging proposition. Drawing upon the findings of a mixed methodological study, this paper critically analyses the pedagogical, organisational and practical issues encountered by academics and support staff working within a newly established Centre for Learning Innovation and Professional Practice. Comprising an eclectic group of staff drawn from across the five Schools in the University, the Centre is dedicated to enhancing student learning through the development of evidence based teaching practice. Based upon the premise that the promotion of research-led teaching will act to bring teaching and research together, and in doing so enhance students learning experiences (Simmons & Elen 2007), the paper critically analyses the challenges encountered by staff responsible for developing and introducing a new learning & teaching focused organisational strategy (by reflecting on the previous 12 months work). In doing so it makes a significant contribution to current academic theory and debate in the areas of pedagogic practice and organisational management. Focusing specifically on the impact of the new policy on various aspects of university life including, pedagogic practice, student support, staff training, and organisational management, the paper critically addresses the cultural and attitudinal challenges of change management (Kotter, 1996) within a ‘grey-brick’ university. It concludes by arguing that the move towards becoming a more learning-focused university has started to develop an awareness of the positive impact the change initiative is having on the student experience and wider institution; whilst also drawing attention to the organisational challenges ahead.

Perceptions of learning and teaching quality in Higher Education:developing a culture of co-creation of value

Perceptions about the quality of learning and teaching in Higher Education has for many years focused upon the application of market based principles. This includes the notion of students as “customers” of the Higher Education Institutions (HEI) service. We argue that the application of the customer analogy is unhelpful however, as students this approach is likely to affect student expectations about the service and their judgements about its quality. The purpose of this paper is to propose a study consisting of a series of interventions to develop a culture of value co-creation at a UK based HEI. By introducing CCV principles, it is hoped to steer students away from seeing themselves as “customers”, and passive recipients of in the learning and teaching process, to one where they take responsibility for their own learning experience, to be explored and acted upon in partnership with their lecturers and other stakeholders.