Does a single plasma phenylalanine predict quality of control in phenylketonuria?

A 1993 MRC working group on phenylketonuria suggested standardising blood phenylalanine measurements by taking blood samples at the same time each day. Since it is not known how representative of a 24 hour period a single phenylalanine concentration is, the aim of this study was to investigate the 24 hour variability of plasma phenylalanine in well controlled children with phenylketonuria. Sixteen subjects, 12 girls and four boys aged 1 to 18 years, had hourly venous blood samples collected for 13 hours between 09.00 and 21.00 on one day. Serial skin puncture blood specimens were then collected at 24.00, 03.00, and 06.00 within the same 24 hour period. All food and drink was weighed. The median variation in plasma phenylalanine concentration was 155 mumol/l/day, with a minimum of 80 and a maximum of 280. The highest concentration occurred in the morning between 6.00 and 9.00 in 63% of subjects; the lowest occurred between midday and midnight in 94%. Concentrations < 100 mumol/l occurred in 46% of children below 11 years, three having concentrations < 30 mumol/l for two, six, and seven hours respectively. Three of five subjects had concentrations above the MRC guidelines for 24% of the period studied. Except in two subjects, the blood concentrations did not rise in response to phenylalanine consumption. However, the greater the quantity of protein substitute taken between waking and the 16.00 specimen, the larger the decrease in daytime phenylalanine concentration (r = -0.7030) (p < 0.005). There is therefore wide variability in phenylalanine concentrations in a 24 hour period in children with phenylketonuria which is not reflected in a single observation. Further study is needed to investigate the effects of timing of protein substitute on the stability of phenylalanine concentrations.     

Feeding problems in young PKU children

Behavioural feeding problems were found to be more prevalent in a group of 15 PKU children aged 1-5 years when compared to non-PKU controls. The parents of PKU children identified poorer appetites ( p < 0.01), a more limited range of foods consumed ( p < 0.03) and more gastrointestinal symptoms such as vomiting and constipation ( p < 0.03) than control children. The children were slower to feed ( p < 0.03), were more likely to dislike sweet foods and some ate separately from the rest of the family at mealtime ( p < 0.03). The effects on normal feeding behaviour should be considered when advocating strict diet therapy for young PKU children.     

The initial evaluation of the multiple trauma patient

The primary evaluation and resuscitation of the multiple trauma patient is based upon diagnosis and therapy of the failures of oxygen transport. The sequence is clearly ventilation, circulatory failure, and pulmonary failure. The secondary evaluation is related to intracranial, intrathoracic, intra-abdominal, and extremity injuries. These 2 phases overlap. Thus, ventilation needs to be achieved without further compromise of spinal cord function while the control of external bleeding certainly aids circulatory function. In addition, effective cardiopulmonary resuscitation commonly greatly improves cerebral function. Thus, although discussed separately, evaluation and resuscitation is a complex endeavor that involves all of the injuries and all of the organs on a varying time scale in which the failures of oxygen transport are of first order importance because of the time scale that leads to death. Effective resuscitation demands a detailed knowledge of cardiopulmonary physiology and an aggressive personality so that the various possible mechanisms are evaluated and treatment is rapidly initiated. In general, the patient should have good cardiopulmonary resuscitation prior to being transferred to the radiographic unit. Thus, chest tubes may be placed on the basis of emergency room physical evaluation. The various pump failures are recognized by the failure of adequate circulatory response to blood volume support, usually accompanied by a rising right atrial pressure. Intra-abdominal and intrathoracic bleeding are largely diagnosed by chest or peritoneal lavage tubes without x-ray examination.     

What is important in evaluating health care quality? An international comparison of user views

Background  

Quality of care from the perspective of users is increasingly used in evaluating health care performance. Going beyond satisfaction studies, quality of care from the users' perspective is conceptualised in two dimensions: the importance users attach to aspects of care and their actual experience with these aspects. It is well established that health care systems differ in performance. The question in this article is whether there are also differences in what people in different health care systems view as important aspects of health care quality. The aim is to describe and explain international differences in the importance that health care users attach to different aspects of health care.     

Total mediastinal traverse with isolated internal mammary artery transection

Transmediastinal gunshot wounds are infrequent but life-threatening injuries. The course of the projectile and the bullet track often is unpredictable. Prompt and specific diagnostic and therapeutic interventions are necessary to quickly identify and repair potentially life-threatening injuries to the heart, great vessels, and the aerodigestive tract. Multiple diagnostic algorithms exist for work-up of these injuries, and the therapeutic interventions are diverse and challenging. We describe a patient with total mediastinal traverse, who presented with right-sided hemopneumothorax. The work-up revealed surprisingly an isolated left internal mammary artery transection with a significant hemorrhage that mandated surgical intervention in left chest.