Identification of Fabry disease in two brothers.
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Biomedical subjects
Publications and source records attributed to M Mendelson.
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In an attempt to increase the rate of documented follow-up of abnormal lab test results, an automated one-week-later reminder module was added to our lab data system. Provision of reminders to providers did not produce the expected improvement. It appears that in clinics with difficult access to conventional patient records, reminders do not improve documentation, and may elicit resistance and resentment.
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Serum circulating immune complexes (CIC) were measured in 27 patients with non insulin dependent diabetes (NIDD). This was done by measuring the degree of binding to human red blood cells by the C3b complement fraction. At the same time, the percentage of B lymphocytes in peripheral blood was evaluated by means of the direct immunofluorescence technique for surface IgG and EAC rosettes for cells with receptors to C3b complement fraction. Twenty normal control subjects were simultaneously studied by the same methodology. An increase in serum CIC was observed in NIDD patients, as compared to healthy subjects. Values were 35.8 +/- 3.2 and 25.6 +/- 2.1 micrograms/ml, respectively. The percentage of cells with surface IgG was 10.2 +/- 0.8 in diabetic patients; this value was significantly higher than that found in the control group (6.0 +/- 0.8). No significant quantitative difference in the percentage of EAC binding cells was found between NIDD patients and the control group. When NIDD patients were divided into two groups, those with and those without microvascular complications, neither differences in CIC levels nor in the percentage of B lymphocytes were found. Nor any correlation could be found between the highest individual CIC levels and the highest percentage of lymphocytes with surface IgG. These data show an increase of CIC levels and of cells with surface IgG in NIDD patients who had not received insulin at least not in a constant or prolonged therapy. This could allow us to suspect the existence of antigen-antibody complexes different to insulin-antiinsulin CIC found in insulin dependent diabetes.
At the request of the Education Council of the American Urological Association a survey of urologic teaching in America's medical schools was done. The most startling and distressing finding, based upon the study of 99 medical schools, was that more than half (52 per cent) of the schools do not require any clinical exposure to urology before graduation. Suggestions are offered, based upon the documented importance of urology in the delivery of primary care, for an approach to medical school curriculum committees to mandate the return of urology as a required subject in our schools.
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The motor rhythm of ventilation in hermit crabs and lobsters appears to be controlled by a pair of neurons, one in each half of the subesophageal ganglion. Their membrane potentials oscillate and upon depolarization and hyperpolarization elicit spiking in two pools of motor neurons on each side, without spikes in the oscillator neurons themselves. The fact that higher order (command) interneurons can control the rate of the oscillator by means of a smoothly graded input lends support to the idea that oscillator neurons respond periodically to a constant ionic stimulus.
The remotor muscle of the second antenna of the American lobster is functionally divided into two parts. One part produces slow, powerful contractions and is used for postural control. The other part produces very brief twitches, can follow frequencies over 100/sec without fusion and is probably used for sound production. This great speed is due, in part, to synchronous arrival of nerve impulses at multiple terminals, a very brief membrane electrical response and electrical continuity throughout large volumes of sarcoplasm. Calculations indicate that the very extensive sarcoplasmic reticulum is probably responsible for the rapid decline of tension in this muscle.
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