Biomedical subjects
J Coakley
Publications and source records attributed to J Coakley.
Plasma intestinal alkaline phosphatase isoenzymes in neonates with bowel necrosis.
AIM: To determine if the intestinal isoenzymes of alkaline phosphatase (ALP) are biochemical markers of bowel necrosis in neonates. METHODS: Plasma ALP isoenzymes were measured in 22 babies with bowel necrosis, histologically confirmed, and in 22 matched controls. The isoenzymes were also measured in 16 infants with signs of necrotising enterocolitis, who recovered without histological confirmation of bowel necrosis. The isoenzymes were separated by polyacrylamide gel electrophoresis. Auxiliary tests for identification included neuraminidase digestion and treatment with monoclonal and polyclonal antiplacental antibodies. RESULTS: Intestinal ALP was detected in 16 infants with bowel necrosis--13 had fetal intestinal ALP (FI-ALP) and three had adult intestinal ALP (AI-ALP). FI-ALP was detected in nine of the controls. In the babies with bowel necrosis intestinal ALP was found over all gestations, but in the controls only in those less than 34 weeks. The percentages of total ALP activity due to intestinal ALP were significantly higher in those with bowel necrosis compared with matched controls (p = 0.028). In babies of all gestations diagnostic sensitivity for the presence of intestinal ALP as a marker of bowel necrosis was 73% and diagnostic specificity 59%. In babies greater than 34 weeks' gestation, diagnostic sensitivity fell to 60% but the test became completely specific. In two babies FI-ALP increased from zero/trace to high activity coincident with the episode of bowel necrosis. In 16 babies with signs of necrotising enterocolitis but unconfirmed bowel necrosis FI-ALP was detected in four. CONCLUSION: Intestinal ALP seems to be released into the circulation in some babies with bowel necrosis, but its detection does not have the diagnostic sensitivity and specificity to be a reliable biochemical marker of the condition.
Suxamethonium and intensive care.
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Molecular heterogeneity in McArdle's disease.
Biopsies were taken from a group of eleven patients with McArdle's disease, a congenital deficiency in muscle glycogen phosphorylase. The biopsies were screened by Western and Northern blotting for phosphorylase protein, phosphorylase-bound pyridoxal-5'-phosphate (the cofactor of the enzyme) and for phosphorylase mRNA. Of the eleven patients, three expressed phosphorylase mRNA at near normal levels and at the expected size. One of these patients also expressed low levels of phosphorylase protein that correlated with a small amount of measurable phosphorylase activity. These data support the contention of molecular heterogeneity in the presentation of this phenotype.
An unusual case of variegate porphyria with possible homozygous inheritance.
We report an unusual case of variegate porphyria in a young girl with epilepsy, mental retardation and premature adrenarche. Symptoms of porphyria commenced about the age of 12 years and death occurred about 18 months later. The patient had very low protoporphyrinogen oxidase activity in her cultured fibroblasts. Both parents had half the normal activity of this enzyme in lymphocytes and are heterozygous for the abnormal gene for variegate porphyria. Therefore, it is possible that the patient was a homozygous variant. Anticonvulsant therapy and low hepatic 5 alpha reductase activity were probably other contributing factors to the severity of the condition in this patient.
Distinction of Becker from limb-girdle muscular dystrophy by means of dystrophin cDNA probes.
The similarity in clinical features of X-linked Becker muscular dystrophy (BMD) and the autosomal recessive limb-girdle (LGD) type of adult muscular dystrophy makes differential diagnosis of the isolated male case difficult. DNA probes complementary (cDNA) to the Duchenne/Becker muscular dystrophy gene product, dystrophin, can detect molecular deletions in 60-70% of affected subjects. Thirty-three patients with BMD or LGD (thirty isolated and three with an affected brother) were screened with a panel of cDNA probes for the whole dystrophin gene. Deletions were found in thirteen of eighteen (72%) patients with a diagnosis of BMD. Deletions were also found in four of the fifteen (27%) patients previously thought to have LGD, who were therefore reclassified as having BMD. All male patients with progressive muscular dystrophy of limb-girdle pattern should be routinely screened with these cDNA probes as a useful adjunct to their clinical diagnosis since the results have important implications for genetic counselling of affected families.
Isoforms of creatine kinase: MM in the study of skeletal muscle damage.
Isoforms of creatine kinase (CK) MM have been analysed in plasma from normal subjects and patients with muscular dystrophy using isoelectric focusing techniques. Most plasma samples analysed contained three isoforms of CK-MM of isoelectric points 7.26 (MMI), 6.85 (MMII) and 6.45 (MMIII) although in some plasma samples two additional isoforms of isoelectric points 7.12 and 6.65 were seen. Patients with muscular dystrophy were found to have a generally higher proportion of CK-MMI in their plasma than normal subjects and this was relatively unaffected by large variations in the total creatine kinase activity. By comparison eccentric exercise in normal subjects was found to result in a large increase in total plasma CK activity which then declined to normal over a period of approximately 6 days. CK-MMI was found to increase initially followed by CK-MMII and CK-MMIII. Analysis of the isoforms in biopsy samples of human muscle revealed the presence of two of the bands found in plasma (CK-MMI and MMII) and a third muscle specific isoform, while incubation of muscle homogenates in plasma induced the formation of CK-MMIII and the two isoforms of pI 7.12 and 6.65. It is concluded that analyses of CK-MM isoforms in human plasma can provide useful information on the extent and relative time course following an episode of muscle damage but that in patients with muscular dystrophy the large variations in plasma CK activity are not reflected in the proportion of CK found in each isoform.(ABSTRACT TRUNCATED AT 250 WORDS)
Selenium metabolism and supplementation in patients with muscular dystrophy.
We studied selenium metabolism in patients with Duchenne muscular dystrophy and in contrast to previous reports found no significant abnormalities in these patients. Supplementation of muscular dystrophy patients and control subjects with sodium selenite (1 mg selenium/day) induced a variable rise in the activity of the selenium-dependent enzyme glutathione peroxidase in plasma and red cells, but no significant change in muscle glutathione peroxidase activities. There was no effect of selenium supplementation on disease activity in the patients with muscular dystrophy. Thiobarbituric acid-reacting substances (an index of free radical-mediated lipid peroxidation) were elevated in the muscle of patients with Duchenne muscular dystrophy in contrast to patients with other forms of muscular dystrophy and control subjects. This elevation was unaffected by selenium supplementation.
Staphylococcal peritonitis following selective decontamination of digestive tract.
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Conchotome and needle percutaneous biopsy of skeletal muscle.
Percutaneous muscle biopsy is an important and acceptable technique in the study of conditions involving human skeletal muscle. A review of 436 conchotome and needle muscle biopsies obtained over 18 months in this centre is presented.
Evaluation of single-slide creatinine method on the Kodak Ektachem 700 shows positive interference from lignocaine metabolites.
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Acute severe asthma treated by mechanical ventilation: 10 years' experience from a district general hospital.
A retrospective study was made of patients requiring mechanical ventilation (intermittent positive pressure ventilation--IPPV) for acute severe asthma in a district general hospital during 1974-83. Thirty two patients required IPPV on 34 occasions. Complications included pneumothorax in six (18%) patients, chest infection in 12 (35%) patients, pulmonary collapse in three (9%) patients, hypotension at induction of IPPV in 12 (35%), and gastrointestinal bleeding in three (9%). Three (9%) patients died. Therapeutic bronchial lavage was performed in 19 patients. The procedure produced a rise in effective static compliance from a mean of 17 (SD 6) ml/cm H2O to 24 (9) ml/cm H2O at four hours. Bronchial lavage was associated with a significant excess of respiratory infections. A feature common to most patients was undertreatment before admission to hospital.
Algorithm for modified alkaline diuresis in salicylate poisoning.
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Nitroglycerin ointment for dopamine-induced peripheral ischaemia.
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How Americans say they drink: preliminary data from two recent national surveys.
Data from two recent National Center for Health Statistics (NCHS) surveys which included alcohol consumption questions are described. These surveys are the Health and Nutrition Examination Survey (HANES I), providing alcohol consumption, dietary recall, health and demographic data for over 20,000 respondents; and the Health Habits Section of the 1977 Health Interview Survey (HIS) which provides responses of 23,000 people on drinking behavior and health factors such as smoking, physical disabilities, and dietary habits. Drinking data from these surveys are limited but of sufficient accuracy to be useful for cross-classification of drinking with health, socio-economic and demographic variables. Drinking patterns correlate reasonably well with those reported in other national surveys. Selected findings show that patterns of drinking and dietary intake are similar at national and regional levels, with the South remaining the region lowest in alcohol consumption levels. Surveys consistently under-report alcohol quantities expected from sales in all regions; potential reasons for this are discussed. Highest consumption is reported by males (3 to 4 times that of females), those with European national origins, those who are working or in school (college) rather than those who are retired or keeping house, and those between 25 and 64 years old. Beer remains the beverage of choice, particularly among those who are the heaviest drinkers. The potential for future analyses of drinking behavior and its health implications is explored, and areas for further investigation are suggested. Data preparations have been completed so that information on alcohol consumption can be more readily related to medical history, medical examination, laboratory findings, disability, and health care data in these surveys.
Operating-room inservice education: its problems and implications.
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The morphology and morphometry of the normal human tibialis anterior muscle.
The light microscopic appearance of the human tibialis anterior muscle is described based on conchotome biopsy specimens from seven healthy volunteers and 20 patients who presented with myalgia but who had no evidence of neuromuscular disease. The morphometric characteristics of these normal muscles are documented and the similarities and differences between the appearances of the tibialis anterior and other muscles discussed.