DNA probe technology: implications for service planning in Britain

For certain genetic conditions DNA testing identifies carriers and determines the risk status of foetuses, thus helping parents to make more informed prenatal decisions. Data, collected from three genetic centres in England and Wales from August 1986 to July 1990, are used to describe trends in demand for DNA testing, the impact of DNA tests on carrier risk assessment, and the use of DNA tests in relation to pregnancy outcome. Altogether the data include 23,388 subjects and 681 pregnancies in 8738 families divided into five cohorts by year of entry and referral. The most frequent gene disorders referred to the genetic centres are currently being tested or will soon be tested. For these disorders the initial high level of activity has declined and may have reached steady state. Demand for DNA services is high for cystic fibrosis and Duchenne muscular dystrophy, intermediate for Huntington's disease, and low for adult polycystic kidney disease, phenylketonuria and tuberous sclerosis. Based on these findings we suggest that demand for DNA tests will be high in serious, untreatable and slow progressing conditions with early onset; intermediate for conditions affecting intellect and neurological integrity with later onset; and low for treatable, late-onset conditions, or those for which there is evidence of heterogeneity, and variable penetrance. It would be helpful to assess the extent to which this view of demand is confirmed when the new disorders being DNA tested are considered and for the pattern of activity of DNA testing for some types of cancer. Since no DNA centre could offer a fully comprehensive testing service, it is recommended that a structure is created to audit overall activity, assist in policy formulation, and influence supraregional service organisation, in order that the spread of DNA services be planned as effectively as possible. This structure would facilitate monitoring of the evolution of contract specifications agreed by commissioners and providers on a regional basis.     

The risk of cytomegalovirus infection in seronegative transfusion recipients not receiving exogenous immunosuppression

We studied 637 transfusion recipients seronegative for cytomegalovirus (CMV) in the following categories: neonates; pregnant women; and patients experiencing trauma, burns, cardiovascular surgery (adult or pediatric), major surgery, or gastrointestinal hemorrhages. Cultures and serological tests were used to follow up subjects for evidence of CMV infection for a period of three months after their last transfusion. Six (0.9%) developed CMV infection. No significant differences in risk among patient categories were observed. Infected patients received a significantly larger mean number of units of cellular blood products (CBP; 50.0 +/- 38.9 vs. 6.2 +/- 8.5; P less than .001) and plasma (23.7 +/- 15.3 vs. 2.6 +/- 4.6, P less than .001) than did uninfected patients. This result represents a risk per unit of CBP transfused of 0.14%, or approximately 0.38% per unit of seropositive CBP transfused. We observed, however, that patients exposed to CBP from greater than 30 donors had a higher risk of acquiring CMV infection than would be predicted if infectious units were randomly distributed among all donors (P less than .01).     

Human metabolism of arsenobetaine ingested with fish

1. Six volunteers ingested 74As-labelled arsenobetaine with a fish meal. The retention and distribution of the tracer were studied by body radioactivity measurements. 2. The tracer became rapidly dispersed in soft tissues, with no major concentration in any localized organ or region. 3. In all subjects less than 1% of the ingested activity remained in the body after 24 days. 4. Any losses from the skin were minor in relation to those by other routes of excretion.     

Effects of Positive and Negative Mood on Sexual Arousal in Sexually Functional Males

Effects of positive and negative musical mood induction on subjective and objective sexual arousal were examined in a group of sexually functional males (N = 24). Subjects evidenced significantly greater objective and subjective sexual response in the positive mood induction condition relative to both baseline and a neutral control condition. In contrast, the negative mood induction condition yielded significantly less objective sexual arousal than baseline and a neutral control condition. Data provide additional empirical support for the hypothesized impact of mood on sexual arousal.     

Effects of posture on stimulated ventilation in quadriplegia

Quadriplegics are able to compensate for alterations of operational length of the diaphragm by reflexly increasing neural drive to the diaphragm. This increase in neural drive is adequate to maintain required tidal volume and minute ventilation during quiet breathing in these patients with limited inspiratory muscle function. It is not known, however, if this neural compensation is sufficient to preserve ventilation when the diaphragm is stressed by simultaneously changing its operational length and increasing ventilatory demands. This issue was explored in 7 quadriplegics whose vital capacity was reduced to 15 to 53% of predicted. The diaphragm was stressed by shortening its length from the supine to a 60 degree tilted position, and also by inducing hyperventilation by having the subjects rebreathe 7% CO2. Response to this stress was recorded by monitoring the ventilatory response to rebreathing CO2 (delta VE/delta PCO2), and also by measuring mouth pressure 0.1 s after occluding the airway at the start of inspiration during CO2 rebreathing (delta P0.1/delta PCO2). A change from the supine to the tilted position caused an increase in resting end-expiratory volume of 0.8 +/- 0.2 L (SD) and therefore shortened the diaphragm. Despite this shortening of diaphragm length and the stress of CO2 rebreathing, there was no significant change in delta VE/delta PCO2 and delta P0.1/delta PCO2 with changes in posture. The delta VE/delta PCO2 was 0.82 +/- 0.42 L/min/mm Hg supine versus 0.95 +/- 0.65 L/min/mm Hg when tilted. The delta P0.1/delta PCO2 was 0.18 +/- 0.08 cm H2O/mm Hg supine versus 0.20 +/- 0.10 cm H2O/mm Hg tilted.(ABSTRACT TRUNCATED AT 250 WORDS)     

Use of fibronectin and somatomedin-C as markers of enteral nutrition support in traumatized patients using a modified amino acid formula

The purpose of this study was to evaluate the use of serum fibronectin and serum somatomedin-C as nutritional markers during enteral nutrition support (ENS) of critically ill, traumatized patients using an enteral product containing high concentrations of branched-chain amino acids. Twelve critically injured patients received a standard enteral formula with 30 g of a 44% branched-chain amino acid supplement added to each liter of formula. Fibronectin concentration, somatomedin-C concentration, and nitrogen balance were measured on study days 1, 4, 7, 14, 21, 28 or until adequate oral intake began. Both fibronectin and somatomedin-C concentrations increased significantly from baseline by day 7 of ENS. Nitrogen balance increased significantly from baseline by day 4. On days 14 and 21, only somatomedin-C and nitrogen balance increased significantly from baseline. Nitrogen balance was significantly correlated with somatomedin-C concentration (r = 0.53, p less than 0.01), cumulative caloric intake (r = 0.68, p less than 0.01), and cumulative nitrogen intake (r = 0.72, p less than 0.01). The results of this study suggest that serum somatomedin-C is useful and serum fibronectin has potential in monitoring nutrition support response in critically ill, traumatized patients.     

Patient access to psychiatric records: the patients'' view.

The passing of legislation relating to subject access to personal health data has been accompanied by concern about the possible harmful effects of this development on patients. Despite the lack of substantive evidence psychiatric patients have been regarded as the group most at risk. This study investigates the subjective views of patients on access to records on two psychiatric wards.