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.

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.

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

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.

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.

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.

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.

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).

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.

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.

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.