Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult.

A 19-year-old woman with mild myopathic symptoms from age 6 and fasting intolerance presented with a Reye-like syndrome and a myopathy. Investigations disclosed a lipid storage myopathy, type II glutaric acidemia, and carnitine deficiency in skeletal muscle. Riboflavin and carnitine treatment corrected the metabolic abnormalities and she improved clinically. She later died from pulmonary complications secondary to aspiration. Subsequent studies established electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency (fibroblast ETF:QO activity was 2.9 mU/mg, normal range is 14.1 +/- 3.8 mU/mg) as the cause of her illness. This is the first documented case of ETF:QO diagnosed in an adult.

Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)

Biochemical analysis of muscle in a 37-year-old man with exercise intolerance, myalgia, recurrent myoglobinuria, and retinitis pigmentosa showed phosphoglycerate kinase (PGK) deficiency. Kinetic and physical characteristics of the mutant enzyme differed from those of two previously reported cases, suggesting a distinct mutation. Southern blot analysis showed similar bands in patient and control, but Northern blot analysis of muscle mRNA showed an abnormally large message. These data demonstrate that PGK deficiency is clinically, biochemically, and genetically heterogeneous.

Adult onset nemaline myopathy.

A 47-year-old man had symptoms of nemaline myopathy for approximately 1 year. There were marked elevations of creatine kinase, a feature not previously described. Examination of the nervous system at autopsy failed to reveal any abnormalities.

Experimental lipid storage myopathy. A quantitative ultrastructural and biochemical study.

A lipid storage myopathy was induced in rats treated with daily doses of 2.5 g/kg brominated vegetable oil. As in human lipid storage myopathies, type I fibers were selectively severely affected, the lipid deposits were surrounded by mitochondria and the mitochondrial fraction of the affected fibers was increased. The oxidation of [U-14C]palmitate, [1(-14)C]octanoate and beta-[3(-14)C]hydroxybutyrate was significantly depressed but [1(-14)C]palmitate, as well as labeled pyruvate and succinate were oxidized at normal rates. The activities of long-chain, medium-chain and short-chain carnitine acyltransferases and the muscle carnitine levels were normal. The lipid storage is attributed to impaired beta oxidation of medium-chain and short-chain fatty acyl residues. An approach to the investigation of those human lipid storage myopathies not due to defects in the carnitine system is suggested.

Evaluation of a program to train Saudi Arabian physicians.

The authors evaluated a program at the University of Calgary, in Alberta, Canada, that provided residency training for 11 Saudi Arabian physicians. Through a series of semistructured meetings in 1989 involving the Saudi residents, other residents in the program, members of residency training committees, faculty, and program directors, the program was reviewed to assess whether the Saudi physicians were prepared for the program and progressed satisfactorily when compared with the other residents, whether the training and evaluation were equivalent to those of the other residents, the advantages of the program to the university, and whether the university should be pursuing opportunities to train other foreign nationals. The interviews showed that there was variability in the preparation and progress made by the Saudi residents but the benefits to the university in providing training to a small group of carefully selected foreign-trained physicians were greater than the disadvantages. The information gained during the review reinforced the need to do periodic examinations of training opportunities for foreign physicians and yielded recommendations for improving such training.

Senior residents' views on the meaning of professionalism and how they learn about it.

PURPOSE: To determine senior residents' views on the meaning of professionalism and how they learned about it. METHOD: By means of a modified Dillman technique, all senior residents at two faculties of medicine (n = 533) were surveyed about professionalism during the 1998-99 academic year. The residents were asked to list attributes of professionalism and to rank methods they found most useful for learning about professionalism, to rate the adequacy and quality of their teaching about professionalism and their comfort in explaining the concept of professionalism to a more junior trainee, to list suggestions about how teaching about professionalism could be improved, and to name the medical organization most concerned with matters of professionalism. RESULTS: A total of 258 residents (48.4%) responded. They listed 1,052 attributes they associated with professionalism. The three most common attributes, all listed by more than 100 respondents, were respect, competence, and empathy. The respondents had learned the most about professionalism from observing role models, they rated the quantity and quality of teaching about it positively, and they felt comfortable explaining professionalism to a junior resident. Only 56% of the residents correctly identified the Canadian medical organization most concerned with professionalism. CONCLUSION: Residents' knowledge about professionalism reflects their early stage of development as physicians and their daily activities, where such aspects of professionalism as the social contract, codes of ethics, participation in professional societies, and altruism are not highlighted. Residency programs should develop teaching activities focusing on professionalism that relate to issues residents face in their daily work.

Analysis of stress levels among medical students, residents, and graduate students at four Canadian schools of medicine.

PURPOSE: To assess stress in medical students, residents, and graduate science students at four Canadian schools of medicine. METHOD: Four schools with different curricula in three different parts of Canada participated in the study: the University of Calgary Faculty of Medicine, the University of Alberta Faculty of Medicine, the Dalhousie University Faculty of Medicine, and the McMaster University Faculty of Health Sciences. All the medical students, residents, and graduate science students at each school were surveyed in 1994-95. The three instruments used were the University of Calgary Stress Questionnaire, the Social Readjustment Rating Scale (SRRS), and the Symptom Checklist-90. Demographic data were compared across all four schools. Analysis of variance was calculated for all test-item scores, utilizing a four (school) by three (program) by two (gender) design, which were all between subject factors. Significant main effects were followed up by using planned comparisons (Newman-Keuls, with a probability level of p < .05). Significant interaction effects were followed up by using an analysis of simple effects. RESULTS: A total of 1,681 questionnaires were returned as follows: 621 of 1,304 (48%) from the medical students, 645 of 1,495 (43%) from the residents, and 415 of 829 (50%) from the graduate science students. There were significant differences between the three groups in the natures and degrees of stress, with the graduate students reporting higher levels of stress. There were significant gender differences as well, with the women reporting higher levels of stress. Overall, stress levels were found to be mild, based on the University of Calgary Stress Questionnaire and the SRRS. CONCLUSION: This study suggests that medical students and residents experience stress at levels that appear acceptable, but ongoing monitoring and the provision of appropriate support systems will continue to be important.

Cold induced rhabdomyolysis in carnitine palmyityl transferase deficiency.

A case of carnitine palmityl transferase deficiency in skeletal muscle is described. The usual symptoms associated with this disease (recurrent muscle cramps or pain and pigmenturia) were observed but sudden exposure to cold precipitate rhabdomyolysis in this patient.

Dermatomyositis and granulomatous myopathy associated with sarcoidosis.

A previously healthy, 21-year-old female presented with acute dermatomyositis. Chest X-ray revealed bilateral hilar adenopathy, and mediastinal lymph node biopsy demonstrated noncaseating granulomata compatible with sarcoidosis. The patient improved spontaneously. The significance of bilateral hilar adenopathy in association with dermatomyositis and implications for management are discussed.

Multicore myopathy: not always a benign entity.

Four patients with Multicore Myopathy, a rare morphologically distinct myopathy, are described. Although previously considered to be a non-progressive or only slowly progressive myopathy, progression to significant disability was seen in three of our cases. The association of cardiac disease with Multicore Myopathy has not been previously emphasised. All four patients in this study had a cardiomyopathy, and heart disease was the cause of death in two of the patients. Multicore Myopathy is not always a benign entity. Cardiac involvement, when present, adversely affects prognosis.

Serum creatine kinase level as a screening test for susceptibility to malignant hyperthermia.

One hundred thirty-one patients who were referred for muscle biopsy for in vitro contracture testing (IVCT) for susceptibility to malignant hyperthermia (MH) were studied. Serum creatine kinase (CK) levels were determined routinely before biopsy by the hospital clinical laboratories. Thirty-four had abnormal IVCTs (indicating susceptibility to MH) and 87 patients had normal IVCTs; all these 121 patients had normal CK levels. Ten additional patients had other muscle disorders (central core disease, hyperkalemic periodic paralysis, and Duchenne's muscular dystrophy) and abnormal IVCTs; six of the ten had elevated CK levels. We conclude that the serum CK level, as determined routinely, does not identify MH-susceptible individuals, but may indicate the presence of muscle disease. Therefore, the use of serum CK level as a screening or diagnostic test for susceptibility to MH should be abandoned.

The in-vitro caffeine contracture test: influence of the muscle histochemical profile on test results.

In vitro caffeine contracture tests were carried out on whole rat muscle composed primarily of either histochemical type I or type II fibers. Muscles composed primarily of type I fibers developed contractures at lower concentrations of caffeine and had lower caffeine specific concentrations than muscles composed primarily of type II fibers. These findings indicate that the histochemical profile of a muscle can influence the results of the in-vitro caffeine contracture test.

Spontaneous midbrain hemorrhage.

Spontaneous (nontraumatic) midbrain hemorrhage (SMH) is an uncommon condition whose diagnosis is greatly assisted by the use of cranial computerized tomography. Of 18 cases described in the English language literature, only two were diagnosed without the aid of CT. We report five cases of SMH in five normotensive patients. Vertical gaze palsies were noted in four patients, headache in four, pupillary dysfunction in four, mild hemiplegia in two, unilateral ataxia in two, and unilateral asterixis in one. The diagnosis of SMH had not been considered before CT scanning in any of these patients. All patients had partial to complete recovery. Cerebral angiography in each case showed no abnormalities in the area of the hemorrhage.

Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules.

The modified Golgi staining method was used to study the sarcoplasmic reticulum (SR) and t- tubules of skeletal muscle in central core disease. Significant pathological changes were documented in both of these organelles in seven patients. Pathological changes were seen in both core and non-core regions, with the abnormalities being greatest in the cores. In noncore regions, distortions in the normal anatomy were minor. In cores, there was much more significant distortion of the normal anatomy and also an increase in the amount of SR and number of t-tubules.