Design management: changing roles of the professions

This paper sets out to explore how recent changes in procurement in construction have affected the roles that professions play in the design process. It discusses how professions that traditionally took the role of design manager now find themselves participating within previously unforeseen contexts, working in multidisciplinary teams led by contractors and with changed responsibilities at the design stage. Supply chain members who were not previously involved during the early project phases are being engaged at the earliest phases of the project life cycle and even taking leadership roles while designers sometimes work as supply chain partners. A study of design in construction and other sectors shows that in dealing with design management issues it is critical to deepen appreciation for the unique characteristics of design and the design process. The paper argues that contractors and designers taking on design management roles in a dynamic industry seeking to explore best practice and innovative approaches to procurement and in the delivery of projects need to acquire new skills, management education and develop the necessary qualities

Pharmacotherapeutic management of paediatric heart failure and ACE-I use patterns: A European survey

Objective To characterise heart failure (HF) maintenance pharmacotherapy for children across Europe and investigate how angiotensin-converting enzyme inhibitors (ACE-I) are used in this setting. Methods A Europe-wide web-based survey was conducted between January and May 2015 among European paediatricians dedicated to cardiology. Results Out of 200-eligible, 100 physicians representing 100 hospitals in 27 European countries participated. All participants reported prescribing ACE-I to treat dilated cardiomyopathy-related HF and 97% in the context of congenital heart defects; 87% for single ventricle physiology. Twenty-six per cent avoid ACE-I i

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

Copyright \ua9 2024 Peter, Mellis, McInnes-Dean, Daniel, Walton, Fisher, Leeson-Beevers, Allen, Baple, Beleza-Meireles, Bertoli, Campbell, Canham, Cilliers, Cobben, Eason, Harrison, Holder-Espinasse, Male, Mansour, McEwan, Park, Smith, Stewart, Tapon, Vasudevan, Williams, Wu, Chitty and Hill.Introduction: In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory services. This mixed methods study explored the experiences of professionals involved in delivering the pES service during the first 2 years of its delivery in the NHS. Methods: A survey (n = 159) and semi-structured interviews (n = 63) with healthcare professionals, including clinical geneticists, FM specialists, and clinical scientists (interviews only) were used to address: 1) Views on the pES service; 2) Capacity and resources involved in offering pES; 3) Awareness, knowledge, and educational needs; and 4) Ambitions and goals for the future. Results: Overall, professionals were positive about the pES service with 77% rating it as Good or Excellent. A number of benefits were reported, including the increased opportunity for receiving actionable results for parental decision-making, improving equity of access to genomic tests and fostering close relationships between FM and genetics departments. Nonetheless, there was evidence that the shift to offering pES in a clinical setting had brought some challenges, such as additional clinic time, administrative processes, perceived lack of autonomy in decision-making regarding pES eligibility and difficulty engaging with peripheral maternity units. Concerns were also raised about the lack of confidence and gaps in genomics knowledge amongst non-genetics professionals - especially midwives. However, the findings also highlighted value in both FM, obstetric and genetics professionals benefiting from further training with a focus on recognising and managing prenatally diagnosed genetic conditions. Conclusion: Healthcare professionals are enthusiastic about the benefits of pES, and through multi-collaborative working, have developed relationships that have contributed to effective communication across specialisms. Although limitations on resources and variation in knowledge about pES have impacted service delivery, professionals were hopeful that improvements to infrastructure and the upskilling of all professionals involved in the pathway would optimise the benefits of pES for both parents and professionals

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Glycosylphosphatidylinositol (GPI)-anchored proteins are critical for embryogenesis, neurogenesis, and cell signaling. Variants in several genes participating in GPI biosynthesis and processing lead to decreased cell surface presence of GPI-anchored proteins (GPI-APs) and cause inherited GPI deficiency disorders (IGDs). In this report, we describe 12 individuals from nine unrelated families with 10 different bi-allelic PIGK variants. PIGK encodes a component of the GPI transamidase complex, which attaches the GPI anchor to proteins. Clinical features found in most individuals include global developmental delay and/or intellectual disability, hypotonia, cerebellar ataxia, cerebellar atrophy, and facial dysmorphisms. The majority of the individuals have epilepsy. Two individuals have slightly decreased levels of serum alkaline phosphatase, while eight do not. Flow cytometric analysis of blood and fibroblasts from affected individuals showed decreased cell surface presence of GPI-APs. The overexpression of wild-type (WT) PIGK in fibroblasts rescued the levels of cell surface GPI-APs. In a knockout cell line, transfection with WT PIGK also rescued the GPI-AP levels, but transfection with the two tested mutant variants did not. Our study not only expands the clinical and known genetic spectrum of IGDs, but it also expands the genetic differential diagnosis for cerebellar atrophy. Given the fact that cerebellar atrophy is seen in other IGDs, flow cytometry for GPI-APs should be considered in the work-ups of individuals presenting this feature

Standardisation of uterine natural killer (uNK) cell measurements in the endometrium of women with recurrent reproductive failure

Considerable work is being carried out on endometrial NK cells to determine whether they play a role in successful pregnancy outcome. In addition there is debate about whether measurements of uNK should be included in the clinical assessment for women with recurrent implantation failure or recurrent miscarriage. A hindrance to taking this forward is the fact that the density of uNK cells reported by different centres is very different. The aim of this study was to determine the reason for these differences and to develop a standardised method. Three centres participated in the study. Each centre exchanged five formalin fixed, wax embedded sections of endometrium from five women. Sections were immunostained for CD56. Images were taken of 10 random fields at ×400 magnification; total stromal and uNK cells were counted using Image J. Results were expressed as % positive uNK cells and the variation in counts obtained in each centre was compared. After initial analysis a standardised protocol was agreed and the process repeated.Significant variation was seen in the counts obtained after initial analysis (Centre A vs.B, mean difference = -0.72 P < 0.001; A vs.C mean difference = -0.47 P < 0.001; B vs.C, mean difference = 0.25 P = 0.085). Analysis suggested that differences may be due to duration of tissue fixation, the embedding and sectioning processes, selection of areas for assessment, definition of immunopositive cells and inclusion or exclusion of blood vessels. Adoption of a standardised protocol reduced the variation (Centre A vs.B mean difference = -0.105 P = 0.744; A vs.C mean difference = 0.219 P = 0.150; B vs.C mean difference = 0.32 P = 0.031). Use of a standardised method is needed to establish a normal range for uNK cells and to develop a meaningful clinical test for uNK cell measurements

The global burden of adolescent and young adult cancer in 2019: a systematic analysis for the Global Burden of Disease Study 2019

Background: In estimating the global burden of cancer, adolescents and young adults with cancer are often overlooked, despite being a distinct subgroup with unique epidemiology, clinical care needs, and societal impact. Comprehensive estimates of the global cancer burden in adolescents and young adults (aged 15–39 years) are lacking. To address this gap, we analysed results from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019, with a focus on the outcome of disability-adjusted life-years (DALYs), to inform global cancer control measures in adolescents and young adults. Methods: Using the GBD 2019 methodology, international mortality data were collected from vital registration systems, verbal autopsies, and population-based cancer registry inputs modelled with mortality-to-incidence ratios (MIRs). Incidence was computed with mortality estimates and corresponding MIRs. Prevalence estimates were calculated using modelled survival and multiplied by disability weights to obtain years lived with disability (YLDs). Years of life lost (YLLs) were calculated as age-specific cancer deaths multiplied by the standard life expectancy at the age of death. The main outcome was DALYs (the sum of YLLs and YLDs). Estimates were presented globally and by Socio-demographic Index (SDI) quintiles (countries ranked and divided into five equal SDI groups), and all estimates were presented with corresponding 95% uncertainty intervals (UIs). For this analysis, we used the age range of 15–39 years to define adolescents and young adults. Findings: There were 1·19 million (95% UI 1·11–1·28) incident cancer cases and 396 000 (370 000–425 000) deaths due to cancer among people aged 15–39 years worldwide in 2019. The highest age-standardised incidence rates occurred in high SDI (59·6 [54·5–65·7] per 100 000 person-years) and high-middle SDI countries (53·2 [48·8–57·9] per 100 000 person-years), while the highest age-standardised mortality rates were in low-middle SDI (14·2 [12·9–15·6] per 100 000 person-years) and middle SDI (13·6 [12·6–14·8] per 100 000 person-years) countries. In 2019, adolescent and young adult cancers contributed 23·5 million (21·9–25·2) DALYs to the global burden of disease, of which 2·7% (1·9–3·6) came from YLDs and 97·3% (96·4–98·1) from YLLs. Cancer was the fourth leading cause of death and tenth leading cause of DALYs in adolescents and young adults globally. Interpretation: Adolescent and young adult cancers contributed substantially to the overall adolescent and young adult disease burden globally in 2019. These results provide new insights into the distribution and magnitude of the adolescent and young adult cancer burden around the world. With notable differences observed across SDI settings, these estimates can inform global and country-level cancer control efforts. Funding: Bill &amp; Melinda Gates Foundation, American Lebanese Syrian Associated Charities, St Baldrick's Foundation, and the National Cancer Institute

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Purpose: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by characterizing 30 individuals with de novo and often recurrent variants in this PP2A scaffolding Aα subunit. Methods: Most cases were identified through routine clinical diagnostics. Variants were biochemically characterized for phosphatase activity and interaction with other PP2A subunits. Results: We describe 30 individuals with 16 different variants in PPP2R1A, 21 of whom had variants not previously reported. The severity of developmental delay ranged from mild learning problems to severe intellectual disability (ID) with or without epilepsy. Common features were language delay, hypotonia, and hypermobile joints. Macrocephaly was only seen in individuals without B55α subunit-binding deficit, and these patients had less severe ID and no seizures. Biochemically more disruptive variants with impaired B55α but increased striatin binding were associated with profound ID, epilepsy, corpus callosum hypoplasia, and sometimes microcephaly. Conclusion: We significantly expand the phenotypic spectrum of PPP2R1A-related NDD, revealing a broader clinical presentation of the patients and that the functional consequences of the variants are more diverse than previously reported

Influence of firm size on the competencies required to management engineers in the Jordanian telecommunications sector

This is an Accepted Manuscript of an article published by Taylor & Francis in European Journal of Engineering Education on [13 jun 2016], available online:http://www.tandfonline.com/ doi/abs/10.1080/03043797.2016.1197890.[EN] The objective of this study is to identify the competencies required to achieve success in the transition from higher education to the labour market based on the perceptions of employers. This paper analyses the assessments made by a group of engineering company employers. An item-battery of 20 competencies was grouped into 3 dimensions by using factor analysis. Subsequently, respondents scores were also clustered into three groups and characterised through contingency tables. The competencies demanded by employers were grouped into business and finance, problem-solving and strategic planning. Significant differences were found between responses from employers working in medium and small companies, who placed more importance on competencies related to problem-solving and strategic planning, and employers in big companies, who were more concerned about the difficulties of finding well-trained graduates. The findings from this paper have important implications for research in the areas of higher education and organisations that usually employ graduate engineers.The authors would like to thank the Education, Audiovisual and Culture Executive Agency (EACEA) [Tempus program. Project number 511074] of the European Commission for providing funding for conducting this study. This publication reflects the views only of the authors, and the Commission cannot be held responsible for any use which may be made of the information contained therein.Conchado Peiró, A.; Bas Cerdá, MDC.; Gharaibeh, KM.; Kaylani, H. (2016). Influence of firm size on the competencies required to management engineers in the Jordanian telecommunications sector. European Journal of Engineering Education. 1-14. doi:10.1080/03043797.2016.1197890S114ALLEN, J., & DE WEERT, E. (2007). What Do Educational Mismatches Tell Us About Skill Mismatches? A Cross-country Analysis. European Journal of Education, 42(1), 59-73. doi:10.1111/j.1465-3435.2007.00283.xBarrella, E. M., & Buffinton, K. W. (2009). Corporate Assessment of Strategic Issues in Technology Management. Engineering Management Journal, 21(1), 27-33. doi:10.1080/10429247.2009.11431795Bartram, D., Lindley, P. A., Marshall, L., & Foster, J. (1995). The recruitment and selection of young people by small businesses. Journal of Occupational and Organizational Psychology, 68(4), 339-358. doi:10.1111/j.2044-8325.1995.tb00592.xBehrends, T. (2007). Recruitment Practices in Small and Medium Size Enterprises. An Empirical Study among Knowledge-intensive Professional Service Firms. management revu, 18(1), 55-74. doi:10.5771/0935-9915-2007-1-55Boshuizen, H. P. A. (s. f.). Does Practice Make Perfect? Innovation and Change in Professional Education, 73-95. doi:10.1007/1-4020-2094-5_5Branine, M. (2008). Graduate recruitment and selection in the UK. Career Development International, 13(6), 497-513. doi:10.1108/13620430810901660Butler, C. J., & Chinowsky, P. S. (2006). Emotional Intelligence and Leadership Behavior in Construction Executives. Journal of Management in Engineering, 22(3), 119-125. doi:10.1061/(asce)0742-597x(2006)22:3(119)Carbone, T. A., & Gholston, S. (2004). Project Manager Skill Development: A Survey of Programs and Practitioners. Engineering Management Journal, 16(3), 10-16. doi:10.1080/10429247.2004.11415252Cassell, C., Nadin, S., Gray, M., & Clegg, C. (2002). Exploring human resource management practices in small and medium sized enterprises. Personnel Review, 31(6), 671-692. doi:10.1108/00483480210445962Cattell, R. B., & Vogelmann, S. (1977). A Comprehensive Trial Of The Scree And Kg Criteria For Determining The Number Of Factors. Multivariate Behavioral Research, 12(3), 289-325. doi:10.1207/s15327906mbr1203_2Chan, A. P. C., Ho, D. C. K., & Tam, C. M. (2001). Effect of Interorganizational Teamwork on Project Outcome. Journal of Management in Engineering, 17(1), 34-40. doi:10.1061/(asce)0742-597x(2001)17:1(34)Coll, R. K., & Zegwaard, K. E. (2006). Perceptions of desirable graduate competencies for science and technology new graduates. Research in Science & Technological Education, 24(1), 29-58. doi:10.1080/02635140500485340Cronbach, L. J. (1951). Coefficient alpha and the internal structure of tests. Psychometrika, 16(3), 297-334. doi:10.1007/bf02310555Dekker, R., de Grip, A., & Heijke, H. (2002). The effects of training and overeducation on career mobility in a segmented labour market. International Journal of Manpower, 23(2), 106-125. doi:10.1108/01437720210428379Elfenbein, D. W., Hamilton, B. H., & Zenger, T. R. (2010). The Small Firm Effect and the Entrepreneurial Spawning of Scientists and Engineers. Management Science, 56(4), 659-681. doi:10.1287/mnsc.1090.1130Farr, J. V., & Brazil, D. M. (2009). Leadership Skills Development for Engineers. Engineering Management Journal, 21(1), 3-8. doi:10.1080/10429247.2009.11431792Garen, J. E. (1985). Worker Heterogeneity, Job Screening, and Firm Size. Journal of Political Economy, 93(4), 715-739. doi:10.1086/261327Gharaibeh, K. M., Kaylani, H., Murphy, N., Brennan, C., Itradat, A., Al-Bataineh, M., … Bany Salameh, H. (2014). A Masters Programme in telecommunications management – demand-based curriculum design. European Journal of Engineering Education, 40(3), 267-284. doi:10.1080/03043797.2014.944104Hayes, J., Rose‐Quirie, A., & Allinson, C. W. (2000). Senior managers’ perceptions of the competencies they require for effective performance: implications for training and development. Personnel Review, 29(1), 92-105. doi:10.1108/00483480010295835Hersch, J. (1991). Education Match and Job Match. The Review of Economics and Statistics, 73(1), 140. doi:10.2307/2109696Hoegl, M., & Parboteeah, K. P. (2007). Creativity in innovative projects: How teamwork matters. Journal of Engineering and Technology Management, 24(1-2), 148-166. doi:10.1016/j.jengtecman.2007.01.008Hoegl, M., Praveen Parboteeah, K., & Gemuenden, H. G. (2003). When teamwork really matters: task innovativeness as a moderator of the teamwork–performance relationship in software development projects. Journal of Engineering and Technology Management, 20(4), 281-302. doi:10.1016/j.jengtecman.2003.08.001Van Hoorn, T. P. (1979). Strategic planning in small and medium-sized companies. Long Range Planning, 12(2), 84-91. doi:10.1016/0024-6301(79)90076-1HUSELID, M. A. (1995). THE IMPACT OF HUMAN RESOURCE MANAGEMENT PRACTICES ON TURNOVER, PRODUCTIVITY, AND CORPORATE FINANCIAL PERFORMANCE. Academy of Management Journal, 38(3), 635-672. doi:10.2307/256741Kaiser, H. F. (1958). The varimax criterion for analytic rotation in factor analysis. Psychometrika, 23(3), 187-200. doi:10.1007/bf02289233Kaufman, L., & Rousseeuw, P. J. (Eds.). (1990). Finding Groups in Data. Wiley Series in Probability and Statistics. doi:10.1002/9780470316801Krug, J. (1997). People Skills: Teamwork. Journal of Management in Engineering, 13(2), 15-16. doi:10.1061/(asce)0742-597x(1997)13:2(15)Male, S. A., Bush, M. B., & Chapman, E. S. (2010). Perceptions of Competency Deficiencies in Engineering Graduates. Australasian Journal of Engineering Education, 16(1), 55-68. doi:10.1080/22054952.2010.11464039Mao, X., Zhang, X., & AbouRizk, S. M. (2009). Enhancing Value Engineering Process by Incorporating Inventive Problem-Solving Techniques. Journal of Construction Engineering and Management, 135(5), 416-424. doi:10.1061/(asce)co.1943-7862.0000001Mendelsohn, R. (1998). Teamwork—The Key to Productivity. Journal of Management in Engineering, 14(1), 22-25. doi:10.1061/(asce)0742-597x(1998)14:1(22)Moore, B. V. (1921). Personnel selection of graduate engineers: The differentiation of apprentice engineers for training as salesmen, designers, and executives of production. Psychological Monographs, 30(5), i-85. doi:10.1037/h0093191Moy, J. W., & Lee, S. M. (2002). The career choice of business graduates: SMEs or MNCs? Career Development International, 7(6), 339-347. doi:10.1108/13620430210444367Nair, C. S., Patil, A., & Mertova, P. (2009). Re-engineering graduate skills – a case study. European Journal of Engineering Education, 34(2), 131-139. doi:10.1080/03043790902829281Passow, H. J. (2012). Which ABET Competencies Do Engineering Graduates Find Most Important in their Work? Journal of Engineering Education, 101(1), 95-118. doi:10.1002/j.2168-9830.2012.tb00043.xPinnington, A. H. (2011). Competence development and career advancement in professional service firms. Personnel Review, 40(4), 443-465. doi:10.1108/00483481111133336Reio, T. G., & Sutton, F. C. (2006). Employer assessment of work-related competencies and workplace adaptation. Human Resource Development Quarterly, 17(3), 305-324. doi:10.1002/hrdq.1176Robar, T. Y. (1998). Communication and Career Advancement. Journal of Management in Engineering, 14(2), 26-28. doi:10.1061/(asce)0742-597x(1998)14:2(26)Rowold, J., & Kauffeld, S. (2008). Effects of career‐related continuous learning on competencies. Personnel Review, 38(1), 90-101. doi:10.1108/00483480910920732Ruiz-Mercader, J., Meroño-Cerdan, A. L., & Sabater-Sánchez, R. (2006). Information technology and learning: Their relationship and impact on organisational performance in small businesses. International Journal of Information Management, 26(1), 16-29. doi:10.1016/j.ijinfomgt.2005.10.003Soliman, F., & Spooner, K. (2000). Strategies for implementing knowledge management: role of human resources management. Journal of Knowledge Management, 4(4), 337-345. doi:10.1108/13673270010379894Srour, I., Abdul-Malak, M.-A., Itani, M., Bakshan, A., & Sidani, Y. (2013). Career Planning and Progression for Engineering Management Graduates: An Exploratory Study. Engineering Management Journal, 25(3), 85-100. doi:10.1080/10429247.2013.11431985Sunindijo, R. Y., Hadikusumo, B. H., & Ogunlana, S. (2007). Emotional Intelligence and Leadership Styles in Construction Project Management. Journal of Management in Engineering, 23(4), 166-170. doi:10.1061/(asce)0742-597x(2007)23:4(166)Tanova, C. (2003). Firm size and recruitment: staffing practices in small and large organisations in north Cyprus. Career Development International, 8(2), 107-114. doi:10.1108/13620430310465534Teichler, U. (1999). Higher education policy and the world of work: changing conditions and challenges. Higher Education Policy, 12(4), 285-312. doi:10.1016/s0952-8733(99)00019-7Tsang, M. C., & Levin, H. M. (1985). The economics of overeducation. Economics of Education Review, 4(2), 93-104. doi:10.1016/0272-7757(85)90051-2Ward, J. H. (1963). Hierarchical Grouping to Optimize an Objective Function. Journal of the American Statistical Association, 58(301), 236-244. doi:10.1080/01621459.1963.10500845Zenger, T. R. (1994). Explaining Organizational Diseconomies of Scale in R&D: Agency Problems and the Allocation of Engineering Talent, Ideas, and Effort by Firm Size. Management Science, 40(6), 708-729. doi:10.1287/mnsc.40.6.708Zenger, T. R., & Lazzarini, S. G. (2004). Compensating for innovation: Do small firms offer high-powered incentives that lure talent and motivate effort? Managerial and Decision Economics, 25(67), 329-345. doi:10.1002/mde.119

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

<p>Abstract</p> <p>Background</p> <p>Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome.</p> <p>Case Presentation</p> <p>The patient was subjected to clinical and molecular evaluation, including array CGH analysis. The clinical features included left clinical anophthalmia, right microphthalmia, anteriorly placed anus with fistula, chordee, ventriculoseptal defect, patent ductus arteriosus, posteriorly rotated ears, hypotonia, growth retardation with delayed bone age, and mental retardation. The patient was found to have an approximately 5.6 Mb deletion of 16q11.2q12.1 by microarray based-comparative genomic hybridization, which includes the <it>SALL1 </it>gene, which causes Townes-Brocks syndrome.</p> <p>Conclusions</p> <p>Deletions of 16q11.2q12.2 have been reported in several individuals, although those prior reports did not note microphthalmia or anophthalmia. This region includes <it>SALL1</it>, which causes Townes-Brocks syndrome. In retrospect, this child has a number of features that can be explained by the <it>SALL1 </it>deletion, although it is not clear if the microphthalmia is a rare feature of Townes-Brocks syndrome or caused by other mechanisms. These data suggest that rare copy number changes may be a cause of syndromic microphthalmia allowing a personalized genomic medicine approach to the care of patients with these aberrations.</p