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A 13-year-old girl with non-familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged-red fibres and 80% COX-negative staining. Enzymatic activities of mitochondrially co-encoded respiratory chain enzymes (complexes I, III, and IV) were decreased in muscle but normal in cultured skin fibroblasts. mtDNA analysis revealed the presence of the 7497G>A mutation in the tRNASer(UCN) gene, homoplasmic in skeletal muscle and 90% in leukocytes. Analysis of the mother's mtDNA showed 10% heteroplasmy in blood. It may be concluded that the 7497G>A mutation is associated with a muscle-only disease presentation for which high levels of mutated mtDNA are required. Exercise intolerance and muscle pain in otherwise normal children warrants further mitochondrial evaluation. [ABSTRACT FROM AUTHOR]

Context: B.P. Koirala Institute of Health Sciences (BPKIHS), a new Health Sciences University in Nepal has taken several steps to respond to the societal needs and has adopted an integrated, partially problem based and community oriented curriculum. Objective: The objective of this study was to measure the school's achievements in responding to societal needs. Methodology: A descriptive cross sectional questionnaire survey (N = 46) of the administrators, faculty, students/residents and the community. The questionnaire included statements on relevance, quality, cost effectiveness and equity in the education, service and research domains of a medical school. The data were analyzed by using WINKS 4.5, a statistical package for Windows. Results: The responders satisfactorily rated BPKIHS. The mean rating (mean 3.11, SD = 1.06) was more than the satisfactory score (3). The responders were satisfied with the education (Mean = 3.26, SD = 1.06) and research (Mean = 3.12, SD = 1.10) but were less satisfied with the service domain (Mean = 2.94, SD = 0.98). The majority believed that the service is based on health care priorities (72%), and includes primary care (80%). A fair proportion felt the need for improvements in quality of care (50%) and cost effectiveness of care (46%). In general the faculty and administrators groups were more satisfied than the community and students/residents groups. Conclusion: The study was useful in identifying the school's strengths as well as weaknesses in responding to the societal needs. [ABSTRACT FROM AUTHOR]

Society is demanding more social responsiveness and accountability from all its institutions, including medical schools and other schools of the health professions. This demand requires that our schools accept social responsiveness as a fourth obligation, in addition to our traditional tasks of teaching, research, and clinical service. We argue that medical schools should accept some responsibility for shortcomings in the quality of their graduates, their distribution, and their impact on the burden of ill-health in their communities. In this paper we build on previous work by WHO on defining and measuring the social responsiveness of medical schools with regard to four values: relevance, quality, cost-effectiveness, and equity. We suggest a number of relatively simple measures by which a school can begin evaluating its own performance or measure change in its own level of social responsiveness to the priority health care needs of its constituent community. To illustrate the process of using social responsiveness indicators we concentrate on the domain of education and on the value of equity. [ABSTRACT FROM AUTHOR]

Abstract Background Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism. The inability to convert phenylalanine (Phe) into tyrosine causes Phe to accumulate in the body. Adherence to a protein restricted diet, resulting in reduced Phe levels, is essential to prevent cognitive decline. Frequent evaluation of plasma Phe levels and, if necessary, adjustment of the diet are the mainstay of treatment. We aimed to assess whether increased self-management of PKU patients and/or their parents is feasible and safe, by providing direct online access to blood Phe values without immediate professional guidance. Methods Thirty-eight patients aged ≥ 1 year participated in a 10 month randomized controlled trial. Patients were randomized into a study group (1) or a control group (2). Group 2 continued the usual procedure: a phone call or e-mail by a dietician in case of a deviant Phe value. Group 1 was given a personal "My PKU" web page with a graph of their recent and previous Phe values, online general information about the dietary treatment and the Dutch PKU follow-up guidelines, and a message-box to contact their dietician if necessary. Phe values were provided on "My PKU" without advice. Outcome measures were: differences in mean Phe value, percentage of values above the recommended range and Phe sample frequency, between a 10-month pre-study period and the study period in each group, and between the groups in both periods. Furthermore we assessed satisfaction of patients and/or parents with the 'My PKU' procedure of online availability. Results There were no significant differences in mean Phe value, percentage of values above recommended range or in frequency of blood spot sampling for Phe determination between the pre-study period and the study period in each group, nor between the 2 groups during the periods. All patients and/or parents expressed a high level of satisfaction with the new way of disease management. Conclusions Increased self-management in PKU by providing patients and/or parents their Phe values without advice is feasible and safe and is highly appreciated. Trial registration The trial was registered with The Netherlands National Trial Register (NTR #1171) before recruitment of patients.

This AMEE guide focuses on instilling social accountability (SA) concept and values into health professions education (HPE) curricula with the goal of producing competent, compassionate healthcare professionals who can act as change agents within the healthcare system. By incorporating SA, HPE schools will instil in their students a strong sense of accountability for addressing the health needs of the communities they serve. This AMEE guide presents a comprehensive framework for embedding SA into the HPE curriculum, covering various aspects in curriculum design, implementation, and evaluation. It also includes case studies of exemplary socially accountable curricula, highlighting the experiences of schools aspiring for SA. Acknowledging how curriculum is embedded in a larger institutional structure, and that SA requires institutional commitment in its governance structure and policies is also a critical component for consideration.

Competing Interests: Les auteurs déclarent n’avoir aucun lien d’intérêts.

Objectives: The objective of this communication is to describe the development, implementation, and evaluation of a pioneering online course about the social accountability of medical schools intended to develop the skills of academic staff at medical schools in the eastern Mediterranean region., Methods: This four-module course was developed using a six-step approach for curriculum development. Three faculty members with vast experience in social accountability delivered the course online through the MOODLE platform to participants. The content and appropriateness of the course were evaluated using Kirkpatrick's evaluation model, by offering a self-administered questionnaire that assesses the participants' opinions and feedback besides the analysis of the responses of the participants to the discussion points., Results: Sixteen participants from four countries were admitted to the course. An overall 75% of the participants completed four modules. The mean number of online discussion threads was reported to be 36 responses per module. All participants regarded the course as having a clear take-home message. The majority agreed that the course introduced new concepts and corrected some of their misunderstandings about social accountability in medical schools. The main problems that participants experienced were time constraints and technical Internet problems., Conclusion: The application of the concept of social accountability in the day-to-day work of medical schools requires faculty to be informed and trained. The online course provides a flexible way to conduct faculty development programmes.

Competing Interests: None

Within health professional education around the world, there exists a growing awareness of the professional duty to be socially responsible, being attentive to the needs of all members of communities, regions, and nations, especially those who disproportionately suffer from the adverse influence of social determinants. However, much work still remains to progress beyond such good intentions. Moving from contemplation to action means embracing social accountability as a key guiding principle for change. Social accountability means that health institutions attend to improving the performance of individual practitioners and health systems by directing educational and practice interventions to promote the health of all the public and assessing the systemic effects of these interventions. In this Reflection, the authors (1) review the reasons why health professional schools and their governing bodies should codify, in both curricular and accreditation standards, norms of excellence in social accountability, (2) present four considerations crucial to successfully implementing this codification, and (3) discuss the challenges such changes might entail. The authors conclude by noting that in adopting socially accountable criteria, schools will need to expand their philosophical scope to recognize social accountability as a vitally important part of their institutional professional identity.

Context: As the purpose of medical education is to produce graduates able to most effectively address people's health concerns, there is general agreement that coordination with the health care system is essential. For too long, coordination has been dealt with in a subjective manner with only few landmarks to ensure objective and measurable achievements. Over the last 30 years, since the Edinburgh Declaration on medical education, progress has been made, namely with the concept of social accountability., Methods: The social accountability approach provides a way to plan, deliver and assess medical education with the explicit aim to contribute to effective, equitable and sustainable health system development. It is based on a system-wide scope exploring issues from identification of people's and society's health needs to verification of the effects of medical education in meeting those needs. A wide international consultation among medical education leaders led to the adoption of the Global Consensus on Social Accountability of Medical Schools., Experiences: Benchmarks of social accountability are in the process of being conceived and tested, enabling medical schools to steer medical education in a more purposeful way in relation to determinants of health. A sample of schools using the social accountability approach claims to have had a positive influence on health care system performance and people's health status., Conclusion: Improved coordination of medical education and other key stakeholders in the health system is an important challenge for medical schools as well as for countries confronted with an urgent need for optimal use of their health workforce. There is growing interest worldwide in defining policies and strategies and supporting experiences in this regard., (© 2017 John Wiley & Sons Ltd and The Association for the Study of Medical Education.)

We describe 14 patients with 12 novel missense mutations in ASPA, the gene causing Canavan disease (CD). We developed a method to study the effect of these 12 variants on the function of aspartoacylase-the hydrolysis of N-acetyl-l-aspartic acid (NAA) to aspartate and acetate. The wild-type ASPA open reading frame (ORF) and the ORFs containing each of the variants were transfected into HEK293 cells. Enzyme activity was determined by incubating cell lysates with NAA and measuring the released aspartic acid by LC-MS/MS. Clinical data were obtained for 11 patients by means of questionnaires. Four patients presented with a non-typical clinical picture or with the milder form of CD, whereas seven presented with severe CD. The mutations found in the mild patients corresponded to the variants with the highest residual enzyme activities, suggesting that this assay can help evaluate unknown variants found in patients with atypical presentation. We have detected a correlation between clinical presentation, enzyme activity, and genotype for CD., (© 2017 The Authors. **Human Mutation published by Wiley Periodicals, Inc.)

Competing Interests: Tous les auteurs déclarent exercer ou avoir exercé des responsabilités pédagogiques dans des établissements d’enseignementsupérieur, formant des professionnels de santé. P. Diot déclare n’avoir aucun lien d’intérêt. C. Boelen, J.-M. Chabot, J.-L. Dumas et J.-P. Vinel n’ont pas transmis de déclaration d’intérêts.

Health systems worldwide are confronted with challenges due to increased demand from their citizens, an aging population, a variety of health risks and limited resources. Key health stakeholders, including academic institutions and medical schools, are urged to develop a common vision for a more efficient and equitable health sector. It is in this environment that Boelen and Heck defined the concept of the "Social Accountability of Medical Schools" - a concept that encourages schools to produce not just highly competent professionals, but professionals who are equipped to respond to the changing challenges of healthcare through re-orientation of their education, research and service commitments, and be capable of demonstrating a positive effect upon the communities they serve. Social Accountability calls on the academic institution to demonstrate an impact on the communities served and thus make a contribution for a just and efficient health service, through mutually beneficial partnerships with other healthcare stakeholders. The purpose of this Guide is to explore the concept of Social Accountability, to explain it in more detail through examples and to identify ways to overcome obstacles to its development. Although in the Guide reference is frequently made to medical schools, the concept is equally applicable to all forms of education allied to healthcare.

Background: Faculty of Medicine, Suez Canal University (FOM/SCU) was established as community oriented school with innovative educational strategies. Social accountability represents the commitment of the medical school towards the community it serves., Aims: To assess FOM/SCU compliance to social accountability using the "Conceptualization, Production, Usability" (CPU) model., Methods: FOM/SCU's practice was reviewed against CPU model parameters. CPU consists of three domains, 11 sections and 31 parameters. Data were collected through unstructured interviews with the main stakeholders and documents review since 2005 to 2013., Results: FOM/SCU shows general compliance to the three domains of the CPU. Very good compliance was shown to the "P" domain of the model through FOM/SCU's innovative educational system, students and faculty members. More work is needed on the "C" and "U" domains., Conclusion: FOM/SCU complies with many parameters of the CPU model; however, more work should be accomplished to comply with some items in the C and U domains so that FOM/SCU can be recognized as a proactive socially accountable school.

Context: There is growing interest worldwide in social accountability for medical and other health professional schools. Attempts have been made to apply the concept primarily to educational reform initiatives with limited concern towards transforming an entire institution to commit and assess its education, research and service delivery missions to better meet priority health needs in society for an efficient, equitable an sustainable health system., Methods: In this paper, we clarify the concept of social accountability in relation to responsibility and responsiveness by providing practical examples of its application; and we expand on a previously described conceptual model of social accountability (the CPU model), by further delineating the parameters composing the model and providing examples on how to translate them into meaningful indicators., Discussion: The clarification of concepts of social responsibility, responsiveness and accountability and the examples provided in designing indicators may help medical schools and other health professional schools in crafting their own benchmarks to assess progress towards social accountability within the context of their particular environment.

Context: The acquisition of sums of knowledge and mastery of sophisticated technologies by medical graduates is insufficient for their responsibilities to recognise and adapt to people's evolving needs., Response: A Global Consensus on Social Accountability for Medical Schools brought together 130 organisations and individuals from around the world with responsibility for health education, professional regulation and policy making to participate for 8 months in a three-round Delphi process leading to a 3-day consensus development conference which included weighted representation from all regions of the world. The resulting Consensus reflects agreement on 10 strategic directions to enable a medical school to be socially accountable., Results: The list of 10 directions embraces a system-wide scope from identification of health needs to verification of the effects of medical schools on those needs, all driven by the quest for positive impact on peoples' health status. This includes an understanding of the social context, an identification of health challenges and needs and the creation of relationships to act efficiently (directions 1 and 2). Within the spectrum of the health workforce required to address health needs, the anticipated role and competences of the doctor are described (direction 3) serving as a guide to the education strategy (direction 4), which the medical school is called to implement along with consistent research and service strategies (direction 5). Standards are required to steer the institution towards a high level of excellence (directions 6 and 7), which national authorities need to recognise (direction 8). While social accountability is a universal value (direction 9), local societies will be the ultimate appraisers of the achievements of the school and its graduates (direction 10)., (© Blackwell Publishing Ltd 2012.)