Biomedical subjects
Publications and source records attributed to M J Bennett.
With an appropriate protocol for collection, storage, and sample analysis, it should be possible to ensure correct diagnosis of disorders of fatty acid oxidation presenting to the pathologist. Appropriate counseling of affected families will lead to presymptomatic sibling diagnosis of these frequently treatable disorders, which, in turn, can prevent the catastrophic metabolic consequences of the disorders.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited disorder of fatty acid oxidation associated with sudden death in infants and, in its fulminant form(s), a Reye-like syndrome. In an 18-month-old female who died suddenly and unexpectedly, the postmortem diagnosis of MCAD deficiency was made by analysis of organic acids, acylglycines, and acylcarnitines and by analysis of the most common mutation causing MCAD deficiency (A985G) in a sample of heart blood obtained at autopsy and frozen at -20 degrees C for 8 months. The patient was homozygous for A985G and metabolites characteristic of MCAD deficiency were identified. Parents and an older sibling were heterozygous for A985G. The mother was 6 months pregnant when the results were known. At the birth of her male infant, blood spot cards and urine were obtained. The infant was homozygous for A985G by analysis of DNA extracted from blood spots and he excreted metabolites characteristic of MCAD deficiency. These results demonstrate the use of novel molecular and metabolite analysis in making the postmortem diagnosis of MCAD deficiency. The neonatal diagnosis of an affected sib permits the institution of appropriate dietary measures to prevent potentially fatal episodes of illness.
The cardiovascular system of the anaesthetized dog has been used as an experimental model for studying the mechanisms of the haemodynamic responses to hypoxia. Together with aortic and left circumflex coronary artery blood flow (electromagnetic flow transducers), aortic and left ventricular pressures have been recorded and blood has been sampled from the aorta and the coronary sinus (PO2, PCO2, pH). During short periods of hypoxia an improvement of myocardial performance has been observed both before and after administration of a beta-adrenergic receptor blocker and a marked reduction of coronary sinus PCO2 has been noted. When hypoxia was caused by a mixture of nitrogen (95%) and CO2 (5%) an improvement of performance was observed only before administration of the beta-blocker. The slope of the relationship between PCSCO2 and cardiac performance was found to be similar before and after administration of the beta-blocker and also similar to that observed in studies of the response of the isolated heart muscle to acute hypocapnia. Besides beta-adrenergic receptor stimulation, a reduction of coronary sinus PCO2 (CO2 wash-out due to an increase of coronary blood flow) could be a factor contributing to the maintenance of myocardial performance in the face of hypoxia.
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To assess the level and determinants of patient satisfaction with prepaid mental health services, the authors surveyed 124 adult patients who five years earlier had been seen at least once by a mental health professional. Of the 44 percent who returned questionnaires, approximately one third reported satisfaction, one third dissatisfaction, and one third were unsure. Most patients sought help for chronic situational problems and tended to use the services repeatedly over time. Satisfaction was most strongly correlated with the patients' perceptions of their rapport with the provider and slightly less so with their perceptions of the provider's technical competence. Patient characteristics, diagnoses according to the Diagnostic and Statistical Manual of Mental Disorders (DSM 3), and systems issues were of no predictive value. Patients who presented with symptomatic distress not clearly linked to circumstances were likely to be dissatisfied with treatment.
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A retrospective analysis was made of 817 pregnancies that were examined ultrasonically because of the clinical diagnosis of threatened abortion. A total of 285 (34.9%) pregnancies aborted and the majority did so within seven days of ultrasonic examination. This examination predicted the presence of a noncontinuing pregnancy in each case. Very few ultrasonically diagnosed continuing pregnancies subsequently aborted. The incidence of preterm delivery in those pregnancies which continued beyond the 28th week was increased threefold. There was, however, no increased incidence of either congenital abnormalities or growth retarded infants in this group.
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