Assessment for Systems Learning: A Holistic Assessment Framework to Support Decision Making Across the Medical Education Continuum.

Viewing health care from a systems perspective-that is, "a collection of different things which, working together, produce a result not achievable by the things alone"-raises awareness of the complex interrelationships involved in meeting society's goals for accessible, cost-effective, high-quality health care. This perspective also emphasizes the far-reaching consequences of changes in one sector of a system on other components' performance. Medical education promotes this holistic view of health care in its curricula and competency requirements for graduation at the undergraduate and graduate training levels. But how completely does medical education apply a systems lens to itself?The continuum of medical training has undergone a series of changes that have moved it more closely to a systems organizational model. Competency assessment criteria have been expanded and more explicitly defined for learners at all levels of training. Outcomes data, in multiple domains, are monitored by external reviewers for program accreditation. However, translating increasing amounts of individual outcomes into actionable intelligence for decision making poses a formidable information management challenge.Assessment in systems is designed to impart a "big picture" of overall system performance through the synthesis, analysis, and interpretation of outcomes data to provide actionable information for continuous systems improvement, innovation, and long-term planning. A systems-based framework is presented for use across the medical education continuum to facilitate timely improvements in individual curriculum components, continuous improvement in overall program performance, and program decision making on changes required to better address society's health care needs.

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

Choline acetyltransferase catalyzes the synthesis of acetylcholine at cholinergic nerves. Mutations in human CHAT cause a congenital myasthenic syndrome due to impaired synthesis of ACh; this severe variant of the disease is frequently associated with unexpected episodes of potentially fatal apnea. The severity of this condition varies remarkably, and the molecular factors determining this variability are poorly understood. Furthermore, genotype-phenotype correlations have been difficult to establish in patients with biallelic mutations. We analyzed the protein expression of phosphorylated ChAT of seven CHAT mutations, p.Val136Met, p.Arg207His, p.Arg186Trp, p.Val194Leu, p.Pro211Ala, p.Arg566Cys, and p.Ser694Cys, in HEK-293 cells to phosphorylated ChAT, determined their enzyme kinetics and thermal stability, and examined their structural changes. Three mutations, p.Arg207His, p.Arg186Trp, and p.Arg566Cys, are novel, and p.Val136Met and p.Arg207His are homozygous in three families and associated with severe disease. The characterization of mutants showed a decrease in the overall catalytic efficiency of ChAT; in particular, those located near the active-site tunnel produced the most seriously disruptive phenotypic effects. On the other hand, p.Val136Met, which is located far from both active and substrate-binding sites, produced the most drastic reduction of ChAT expression. Overall, CHAT mutations producing low enzyme expression and severe kinetic effects are associated with the most severe phenotypes.

The plastic surgeon as lecturer: speaking as well as we operate.

SUMMARY: This article provides information for the surgeon-educator on techniques for delivering effective lectures. The article provides insights into adult learning and how to motivate and educate through lectures. Delivery style and preparation are emphasized, and specific techniques for creating visual aids that complement a lecture are discussed.

Systems-based practice in graduate medical education: systems thinking as the missing foundational construct.

BACKGROUND: Since 2001, residencies have struggled with teaching and assessing systems-based practice (SBP). One major obstacle may be that the competency alone is not sufficient to support assessment. We believe the foundational construct underlying SBP is systems thinking, absent from the current Accreditation Council for Graduate Medical Education competency language. SUMMARY: Systems thinking is defined as the ability to analyze systems as a whole. The purpose of this article is to describe psychometric issues that constrain assessment of SBP and elucidate the role of systems thinking in teaching and assessing SBP. CONCLUSION: Residency programs should incorporate systems thinking models into their curricula. Trainees should be taught to understand systems at an abstract level, in order to analyze their own healthcare systems, and participate in quality and patient safety activities. We suggest that a developmental trajectory for systems thinking be developed, similar to the model described by Dreyfus and Dreyfus.

Case method teaching: an effective approach to integrate the basic and clinical sciences in the preclinical medical curriculum.

BACKGROUND: Recent efforts to identify the essential skills and competencies required for medical practice have resulted in an expansion of the educational outcomes for which medical schools are accountable. Teachers in the preclinical years, formerly focused on the transmission of biomedical principles and factual information, are now charged with presenting discipline-specific concepts with an emphasis on clinical relevance while advancing active learning, critical thinking, communication skills, and other professional competencies. Problem-based learning has been widely introduced to support these educational goals but other, less resource-intensive, discussion methodologies have not been extensively explored. AIM: To examine the feasibility of case-method teaching (CMT) during the preclinical curricula to integrate basic science concepts in the management of clinical problems. METHODS: CMT sessions were conducted with students during the first- and second-year of hybrid curricula at two US medical schools. RESULTS: First- and second-year medical classes of 40-95 students prepared for and actively engaged in single session case discussions and were able to productively apply basic science principles in clinical problem-solving. CONCLUSION: CMT represents a feasible and resource-conservative pedagogical format to promote critical thinking and to integrate basic science principles during the preclinical curriculum.

Variable phenotypes associated with mutations in DOK7.

Many patients with the limb-girdle variant of congenital myasthenic syndrome (CMS) possess mutations in the human Dok-7 gene (DOK7). We identified six unrelated CMS patients with DOK7 mutations. Two patients, one mildly and the other moderately affected, were homozygous for the previously described 1263insC mutation. The common 1124_1127dupTGCC mutation was detected in the other four patients, whose clinical phenotypes range from mildly to severely affected. This striking phenotypic heterogeneity found both within and between mutational classes is made more compelling by data from our electrophysiological studies and electron microscopy of the neuromuscular junction (NMJ). Indeed, several aspects of the physiological and morphometric data do not correlate with genotype or severity of clinical phenotype. Overall, our study corroborates the findings of others and provides an additional demonstration of the considerable phenotypic variability associated with CMS due to DOK7 mutations.

Developing the master educator: cross disciplinary teaching scholars program for human and veterinary medical faculty.

OBJECTIVE: At the University of California, Davis (UCD), the authors sought to develop an institutional network of reflective educational leaders. The authors wanted to enhance faculty understanding of medical education's complexity, and improve educators' effectiveness as regional/national leaders. METHODS: The UCD Teaching Scholars Program is a half-year course, comprised of 24 weekly half-day small group sessions, for faculty in the School of Medicine and Veterinary Medicine. The program's philosophical framework was centered on personal reflection to enhance change: 1) understanding educational theory to build metacognitive bridges, 2) diversity of perspectives to broaden horizons, 3) colleagues as peer teachers to improve interactive experiences, and 4) reciprocal process of testing theory and examining practice to reinforce learning. The authors describe the program development (environmental analysis, marketing, teaching techniques), specific challenges, and failed experiments. The authors provide examples of interactive exercises used to enhance curricular content. The authors enrolled 7-10 faculty per year, from a diverse pool of current and near-future educational leaders. RESULTS: Four years of Teaching Scholars participants were surveyed about program experiences and short/longer term outcomes. Twenty-six (76%) respondents reported that they were very satisfied with the course (4.6/5), individual curricular blocks (4.2-4.6), and other faculty (4.7). They described participation barriers/facilitators. Participants reported positive impact on their effectiveness as educators (100%), course directors (84%), leaders (72%), and educational researchers (52%). They described specific acquired attitudes, knowledge, and skills. They described changes in their approach to education/career changed based on program participation. Combining faculty from different educational backgrounds significantly broadened perspectives, leading to greater/new collaboration. DISCUSSION: Developing a cadre of master educators requires careful program planning, implementation, and program/participant evaluation. Based on participant feedback, our program was a success at stimulating change. This open assessment of programmatic strengths and weaknesses may provide a template for other medical institutions that seek to enhance their institutional educational mission.

Questioning the "big assumptions". Part I: addressing personal contradictions that impede professional development.

BACKGROUND: The ultimate success of recent medical curriculum reforms is, in large part, dependent upon the faculty's ability to adopt and sustain new attitudes and behaviors. However, like many New Year's resolutions, sincere intent to change may be short lived and followed by a discouraging return to old behaviors. Failure to sustain the initial resolve to change can be misinterpreted as a lack of commitment to one's original goals and eventually lead to greater effort expended in rationalizing the status quo rather than changing it. OBJECTIVE: The present article outlines how a transformative process that has proven to be effective in managing personal change, Questioning the Big Assumptions, was successfully used in an international faculty development program for medical educators to enhance individual personal satisfaction and professional effectiveness. This process systematically encouraged participants to explore and proactively address currently operative mechanisms that could stall their attempts to change at the professional level. CONCLUSIONS: The applications of the Big Assumptions process in faculty development helped individuals to recognize and subsequently utilize unchallenged and deep rooted personal beliefs to overcome unconscious resistance to change. This approach systematically led participants away from circular griping about what was not right in their current situation to identifying the actions that they needed to take to realize their individual goals. By thoughtful testing of personal Big Assumptions, participants designed behavioral changes that could be broadly supported and, most importantly, sustained.

Questioning the "big assumptions". Part II: recognizing organizational contradictions that impede institutional change.

BACKGROUND: Well-designed medical curriculum reforms can fall short of their primary objectives during implementation when unanticipated or unaddressed organizational resistance surfaces. This typically occurs if the agents for change ignore faculty concerns during the planning stage or when the provision of essential institutional safeguards to support new behaviors are neglected. Disappointing outcomes in curriculum reforms then result in the perpetuation of or reversion to the status quo despite the loftiest of goals. Institutional resistance to change, much like that observed during personal development, does not necessarily indicate a communal lack of commitment to the organization's newly stated goals. It may reflect the existence of competing organizational objectives that must be addressed before substantive advances in a new direction can be accomplished. OBJECTIVE: The authors describe how the Big Assumptions process (see previous article) was adapted and applied at the institutional level during a school of medicine's curriculum reform. Reform leaders encouraged faculty participants to articulate their reservations about considered changes to provided insights into the organization's competing commitments. The line of discussion provided an opportunity for faculty to appreciate the gridlock that existed until appropriate test of the school's long held Big Assumptions could be conducted. CONCLUSIONS: The Big Assumptions process proved useful in moving faculty groups to recognize and questions the validity of unchallenged institutional beliefs that were likely to undermine efforts toward change. The process also allowed the organization to put essential institutional safeguards in place that ultimately insured that substantive reforms could be sustained.

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

Rapsyn, a 43-kDa postsynaptic protein, is essential for anchoring and clustering acetylcholine receptors (AChRs) at the endplate (EP). Mutations in the rapsyn gene have been found to cause a postsynaptic congenital myasthenic syndrome (CMS). We detected six patients with CMS due to mutations in the rapsyn gene (RAPSN). In vitro studies performed in the anconeus muscle biopsies of four patients showed severe reduction of miniature EP potential amplitudes. Electron microscopy revealed various degrees of impaired development of postsynaptic membrane folds. All patients carried the N88K mutation. Three patients were homozygous for N88K and had less severe phenotypes and milder histopathologic abnormalities than the three patients who were heterozygous and carried a second mutation (either L14P, 46insC, or Y269X). Surprisingly, two N88K homozygous patients had one asymptomatic relative each who carried the same genotype, suggesting that additional genetic factors to RAPSN mutations are required for disease expression.

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.

The myasthenic syndrome due to abnormal acetylcholine resynthesis is characterized by early onset, recessive inheritance, and recurrent episodes of potentially fatal apnea. Mutations in the gene encoding choline acetyltransferase (CHAT) have been found to account for this condition. We have identified five patients from three independent families with features of this disease including, in four patients, a paradoxical worsening of symptoms with cold temperatures. Electrodiagnostic studies demonstrated impaired neuromuscular transmission in all patients. In vitro microelectrode studies performed in the anconeus muscle biopsies of two patients showed moderate reduction of quantal release. Electron microscopy of the neuromuscular junction was normal in both patients. Each patient had two heterozygous CHAT mutations including L210P and P211A (family 1), V194L and V506L (family 2), and R548stop and S694C (family 3). Three of these mutations have previously been reported and suggest that, in this syndrome, some molecular defects may be more prevalent than others.