Adult-onset autosomal dominant limb-girdle muscular dystrophy

We describe a kindred with a rare autosomal dominant myopathy limited to the limb-girdle muscles, beginning insidiously any time from the late second through the sixth decades and followed by slow progression. Pelvifemoral precedes scapulohumeral weakness, and proximal appendicular involvement antedates limited distal paresis. Expressivity varies and includes an asymptomatic myopathy (preclinical or subclinical) and a nonmanifesting carrier state that extends well into the eighth decade. A variety of nonspecific changes are present in muscle on light, enzyme histochemical, and electron microscopic examination; of these changes, "rimmed" or autophagic vacuoles are the most characteristic. We identified one very similar previously reported genealogy. The similarities between the two unrelated families clearly establish this dystrophic process as a distinct genetic entity; their differences suggest genetic heterogeneity.     

The Yale algorithm. Special workshop--clinical

The assessment of causality in drug-event associations depends on the setting and purpose of such an assessment. Epidemiologists are primarily interested in population-based inferences about whether a given drug can cause a certain adverse drug reaction (ADR), and if so, how often it does so. Pharmaceutical industries and regulatory agencies are also concerned with population-based risks, but in addition must worry about individual cases. Clinicians are primarily interested in the individual, ie, whether a given drug did cause a certain adverse event in a particular patient. The authors describe an algorithm that provides specific, detailed criteria for ranking the probability that an observed untoward clinical manifestation was caused by a given drug. The criteria are subdivided into six axes of decision strategy with a built-in scoring system that ordinally ranks the probability of an adverse drug reaction as definite, probable, possible, or unlikely. To illustrate the use of the algorithm, the authors assess a reference case of pancreatitis occurring after administration of methyldopa.     

Tula Virus as Causative Agent of Hantavirus Disease in Immunocompetent Person,Germany

We report molecular evidence of Tula virus infection in an immunocompetent patient from Germany who had typical signs of hantavirus disease. Accumulating evidence indicates that Tula virus infection, although often considered nonpathogenic, represents a threat to human health.     

Mathematical model of volume kinetics and renal function after burn injury and resuscitation

This paper presents a mathematical model of blood volume kinetics and renal function in response to burn injury and resuscitation, which is applicable to the development and non-clinical testing of burn resuscitation protocols and algorithms. Prior mathematical models of burn injury and resuscitation are not ideally suited to such applications due to their limited credibility in predicting blood volume and urinary output observed in wide-ranging burn patients as well as in incorporating contemporary knowledge of burn pathophysiology. Our mathematical model consists of an established multi-compartmental model of blood volume kinetics, a hybrid mechanistic-phenomenological model of renal function, and novel lumped-parameter models of burn-induced perturbations in volume kinetics and renal function equipped with contemporary knowledge on burn-related physiology and pathophysiology. Using the dataset collected from 16 sheep, we showed that our mathematical model can be characterized with physiologically plausible parameter values to accurately predict blood volume kinetic and renal function responses to burn injury and resuscitation on an individual basis against a wide range of pathophysiological variability. Pending validation in humans, our mathematical model may serve as an effective basis for in-depth understanding of complex burn-induced volume kinetic and renal function responses as well as development and non-clinical testing of burn resuscitation protocols and algorithms.     

Transfer of immunoglobulins and antibodies in the hen's egg

The presence of immunoglobulins and antibodies were investigated in the fertile hen's egg during embryogenesis. The egg yolk, egg albumin, amniotic and allantoic fluids, chick embryo serum and intestinal contents were examined for the presence of immunoglobulin and level of antibodies.

Immunoglobulin G was not detected in fresh egg albumin, but appeared in the albumin from the 4th day of embryogenesis and persisted through the 16th day. The antibody profile of egg albumin during embryogenesis attained two peaks, which were separated by a trough on the 8th day of embryogenesis. The immunoelectrophoretic pattern of albumin IgG was different from that of egg yolk IgG.

The IgG of chick embryo serum was of γ₂ mobility on the 12th day of incubation and shifted gradually to the full range of γ₁ and γ₂ mobilities on the 20th day of incubation. Egg-transmitted antibodies appeared on the 12th day of incubation and attained peak values on the 16th day of incubation.

Moderate antibody levels were detected in the amniotic and allantoic fluids from the 12th to the 18th days of incubation.

     

Development of a PC-based expert system for lower urinary tract pressure-flow studies

Summary An on-line personal computer (PC)-based expert system was constructed for pressure-flow study of the lower urinary tract. An empty expert-system shell and supplementary programs were used for this system; the latter served to compensate the defects of the shell and are referred to as data programs in this report. The data programs were written in the C programming language and were used for on-line data sampling, data entry using a photoscanner, calculation of parameters, saving and loading of data, graphic display, and printing. The urodynamic pressure-flow expert system necessitates on-line data transfer, since it requires a large volume of data. However, off-line data recorded on paper was also made available for ready input by a photoscanner. Reasonable diagnostic accuracy has been achieved by our new expert system for pressure-flow studies. It should be useful in the clinical setting as well as for teaching urological students.Presented at the 19th Annual Meeting of the International Continence Society, Ljubljana, 1989, and published elsewhere as an abstract (Neurourol Urodyn 8:409–410)     

The Canadian National Calibration Reference Centre for In-Vivo Monitoring. Part II: Sources of errors in thyroid monitoring of occupationally exposed personnel

This article, the second of a five-part series covering various aspects of occupational thyroid monitoring, addresses the sources of error that can affect the final result obtained from thyroid monitoring, such as geometry effects (thyroid size, thyroid depth, precision and accuracy of the detector placement, and neck-detector distance). The article also suggests ways in which these errors can be minimized and identifies those errors that are difficult to quantify.     

Evaluation of low dose prostaglandin E1 treatment for ductus dependent congenital heart disease

This study reports our experience with low-dose prostaglandin E₁ (PGE₁) treatment of 91 newborns with ductus dependent congenital heart disease (CHD). PGE₁ efficacy, side-effects as well as the cardiovascular and respiratory profile of the patients were analysed. PGE₁ doses > 0.02 g/kg per minute were used for only 5.3% of the total 23 656 h of treatment. The mean systolic blood pressures did not differ from the normal mean for patients with cyanotic CHD, while the diastolic values were lowered. Respiratory support was required only during 13.7% of the total treatment time. Apnoeas occurred in 21 (38%) of the 55 spontaneously breathing infants, who all had a cyanotic CHD. The incidence of apnoeas was lower during treatment with doses < 0.01 g/kg per minute.     

Error-related processing during a period of extended wakefulness

The nature of error detection as manifested by the error-related negativity was examined in both a Sternberg memory search task and a visual search task. Both tasks were performed in conditions with consistent or varied stimulus-response mapping and loads of three or six letters. After subjects were trained extensively in all conditions, they performed the tasks throughout the night without sleeping. The data suggest that the effectiveness of error detection decreases over time because of a decrease in the quality of perceptual processing. Error detection also suffers when performance requires more search-related resources. In both cases, the representation of the correct response is compromised. These results indicate that error detection depends on the same perceptual and cognitive processes that are required for correct performance.