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Biomedical subjects

M J Bennett

Publications and source records attributed to M J Bennett.

At least 217 records · Page 12Linked to original sources

The greening of the HMO: implications for prepaid psychiatry.

Over the past 15 years the health maintenance organization (HMO) movement has abandoned its social objectives in favor of economic ones. The early emphasis on making equitable and affordable health care available to populations has been superseded by concerns about profitability, market share, and consumer appeal. Psychiatric services, which came late in the HMO movement, were characterized by common values and priorities in the closed-panel HMOs of the 1970s. Trends toward independent practice associations (IPAs) and other open-panel systems, rising expectations, and the monetarization of health care are forcing prepaid psychiatrists to reassess their identity and roles.

Forecasting↗

Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency.

A fatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency is described in a patient who presented with hypoglycaemia and a gross non-ketotic dicarboxylic aciduria. Cultured skin fibroblasts released 14CO2 from [1-14C] octanoic acid at half the normal rate. Prenatal diagnosis was undertaken in a subsequent pregnancy in which cultured amniotic fluid cells revealed a marked reduction in octanoate oxidation indicative of an affected fetus. The pregnancy was terminated and the diagnosis was confirmed by enzyme analysis of skin fibroblasts taken from the fetus. The high residual octanoate oxidation by affected fibroblasts together with the absence of any characteristic abnormality of amniotic fluid organic acids are a potential limitation to the reliability of this type of prenatal diagnosis.

Acyl-CoA Dehydrogenase↗

Abnormal myocardial lipid composition in an infant with type II glutaric aciduria.

We have analyzed the myocardial lipids of an infant with glutaric aciduria type II (GAII) who died from sudden cardiac failure and of five infants who died suddenly from indeterminate causes (sudden infant death syndrome, SIDS). Histology of the SIDS hearts was normal, but there was marked fatty deposition in the GAII heart. Fatty acid composition of myocardial lipids was determined by thin-layer chromatography-gas-liquid chromatography. Total lipid was elevated 20-fold in the GAII heart. Of total fatty acids, 75% was derived from phospholipids in SIDS heart and 89% from neutral lipids in GAII heart. Increased levels of free oleic acid and a 6-fold elevation in the (n-6)/(n-3) fatty acid ratio in phospholipid were noted in GAII heart compared to SIDS hearts.

Fatty Acids↗

Glutaric aciduria type 1: biochemical investigations and postmortem findings.

Glutaric aciduria type 1 (GA1; deficiency of glutaryl - CoA dehydrogenase) was diagnosed in a 6.5-month-old female infant. Despite a good biochemical response to dietary reduction of lysine and tryptophan, there was no clinical response to diet nor to riboflavin therapy and her neurological condition deteriorated progressively until her death at 10.5 months. At postmortem examination only mild neuropathological abnormalities were found in contrast to previous reports of this condition. High levels of glutarate were found in liver, skeletal muscle, heart muscle and aqueous humor. Eye fluid which is readily available, may be a useful material for the postmortem diagnosis of this, and other organic acidurias when urine is not available.

Brain↗

Anaphylactic reaction during anaesthesia associated with positive intradermal skin test to fentanyl.

A 29 year-old female patient suffered vascular collapse which became apparent immediately after general anaesthesia. Resuscitation was prolonged and difficult, and complicated by the need for reoperation. Based on the time history, fentanyl was suspected as the causative agent. Fentanyl allergy was confirmed by skin testing one month later. The case is discussed, and the possible reasons for the delay in appearance of symptoms and signs are considered.

Adult↗

Chorionic villus sampling. Clinical experience in 50 diagnostic cases.

The results of 50 diagnostic chorionic villus samplings (CVS) are presented. In all but 2, the fetus was at risk of a chromosomal abnormality. Sampling was successful in 48 cases. One patient aborted 4 days after the procedure. Two patients had missed abortions diagnosed on ultrasound 44 and 56 days after CVS. Seven patients elected to have their pregnancies terminated. All samplings were undertaken with a specially designed cannula using realtime ultrasound guidance between 9 and 11 weeks of amenorrhoea. Endocervical swabs and blood for maternal serum alpha fetoprotein estimations before and after the procedure were routinely taken. All patients were notified of the results in 8 days or less except in 3 where long-term cultures were necessary. Six patients have delivered and 34 pregnancies are continuing satisfactorily.

Abortion, Missed↗

Chorionic villus sampling: cytogenetic experience in preliminary investigations and in 50 diagnostic cases.

The results of preliminary cytogenetic investigations of chorionic villus sampling (CVS) and its diagnostic application in 50 cases are reported. Preliminary investigations included the effect of short delays between biopsy and processing, levels of mitotic activity related to variations in processing, the incidence of tetraploidy, correlation of the karyotype of the chorionic villi with that of the fetus, and the results of banding studies. A protocol was then designed for application to diagnostic CVS. The 50 diagnostic cases included 4 with male karyotypes which were terminated due to a family history of an X-linked disorder, 1 trisomy 21, 1 trisomy 18, the finding of 1 aberrant cell out of 50 in an otherwise normal analysis, a 45, XY, t (13;21) karyotype, 2 fragile X negative karyotypes and in one case the presence of mosaicism was detected in chorionic villi and subsequently not confirmed at amniocentesis. The karyotype on the chorionic villi was 46XY/47XY +3.

Adult↗

Defects of metabolism of fatty acids in the sudden infant death syndrome.

Two hundred consecutive cases of the sudden infant death syndrome were reviewed for the presence of fat in the liver; 14 showed diffuse panlobular microvesicular fatty change indistinguishable from that found in Reye's syndrome. Samples of frozen liver were available in five of the 14 cases; histochemical analysis showed well preserved cytochrome oxidase and succinate dehydrogenase activity in all five, uncharacteristic of Reye's syndrome. Fatty acyl-coenzyme A dehydrogenase activity in the liver was assayed biochemically in two of the same five cases with severe hepatic fatty infiltration; both showed a defect in medium chain acyl-coenzyme A dehydrogenase activity using the substrate octanoyl-coenzyme A. Both cases also showed cerebral oedema in association with fatty infiltration of renal tubules, myocardium, and skeletal muscle, characteristic of Reye's syndrome. It is concluded that diffuse panlobular microvesicular fatty change of the liver in victims of the sudden infant death syndrome, although essentially non-specific, indicates that the state of mitochondrial enzymes should be investigated.

Acyl-CoA Dehydrogenase↗