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Biomedical subjects
Publications and source records attributed to A Pollard.
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The brains of patients with inherited abnormalities in peroxisomal structure and function contain greatly increased proportions of a homologous series of unique polyenoic fatty acids with carbon chain lengths ranging from 26 to 38. Based on evidence by chemical ionization and electron impact mass spectrometry before and after catalytic hydrogenation, and argentation t.l.c., these lipids have been tentatively identified as 26:5, 28:5, 30:5, 30:6, 30:7, 32:5, 32:6, 32:7, 34:5 and 34:6 fatty acids. A further two fatty acids eluting at very high temperatures from gas chromatography columns have been tentatively identified on the basis of their chemical ionization mass spectra as 36:6 and 38:6 fatty acids.
A family is presented in which 7 members over 3 generations were affected by cardioskeletal myopathy. A vacuolar myopathy with excessive free and intralysosomal glycogen storage in skeletal and cardiac striated muscle was identified in biopsy studies. Post-mortem studies in several patients revealed changes of a congestive cardiomyopathy with myocardial fibrosis. Acid maltase, phosphorylase, debrancher and lysosomal enzyme screens, and glycolytic enzyme levels in skeletal muscle, were normal in 1 case. This is the third report of non-acid maltase deficient lysosomal glycogen storage disease and adds to previous reports with the presentation of detailed family studies, examined of ante- and post-mortem cardiac histology and reports of detailed glycolytic and lysosomal enzyme analysis. This syndrome is unusual among glycogenoses in having a dominant inheritance pattern.
A case of phaeochromocytoma with marked transient elevation of creatine kinase levels is presented. No obvious cause for the elevation was found in life, but on autopsy a non-specific focal myositis was discovered. Possible reasons for the raised creatine kinase levels and focal myositis are discussed.
We have studied the electrophoretic characteristics of a creatine kinase (CK, EC 2.7.3.2) isoenzyme, macro creatine kinase type 2 (MCK-2), in the serum of 42 patients with carcinoma of the colon. The patients could be divided into three subgroups by the intensity of the MCK-2 band (nine high, nine medium, and 24 low intensity), but we detected no correlation between the isoenzyme activity and the stage of the cancer. Inhibition of the activity of the CK-M subunit by antibody to CK-M allowed more sensitive detection of MCK-2 in serum and revealed that MCK-2 may be obscured by CK-MM. Moreover, there may be major discrepancies between the amount of MCK-2 seen on electrophoresis and the apparent total CK.
An 85-year-old woman was brought to the hospital with a serum sodium level of 193 mmol/liter following salt ingestion. She was treated with free water replacement and recovered within 48 hours. She represents the sole survivor of salt ingestion of this severity in the literature.
Macro creatine kinase type 2 (MCK-2) is a promising new tumour marker for carcinoma of the colon. We have purified it from tumour tissue, from serum and, for the first time, from normal colonic epithelium and identified it in a tissue culture line of colon cancer cells. The molecular weight of each preparation, regardless of the source, was similar. Its consistent presence in tumours and in normal colon, contrasted to its variable appearance in serum, implies that there are other factors affecting its release into, or removal from, the circulation.
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The macrocreatine kinase type 2 isoenzyme (MCK-2) was investigated as a marker for colonic cancer. It was sought in 252 serum samples from 231 patients: 69 with active colonic cancer, 49 in whom colonic cancer had been successfully resected, 58 with nonmalignant diseases of the colon, and 76 patients immediately following colonic surgery. MCK-2 was detected in the serum of 39 of the patients with cancer (57%) and in one patient with diverticulitis. MCK-2 and carcinoembryonic antigen (CEA) were both measured in 47 colonic cancer patients. Both markers were detected in 19 cases, MCK-2 alone in eight and CEA alone in eight. We conclude that MCK-2 is a promising tumor marker for carcinoma of the colon and that its value might be complementary to that of CEA.
Antibodies to three major antigens of the non-histone or saline-extractable nuclear antigen (ENA) complex were sought by counterimmunoelectrophoresis (CEP) in three groups of sera which gave different patterns in the immunofluorescence test for antinuclear antibodies (ANA). Precipitins, mainly anti RNP and anti SS-B, were found most commonly (61%) in 70 sera with a speckled ANA pattern but were less frequent (8%) in 61 sera with a homogeneous ANA pattern and exceptional (1%) in 72 sera which showed fibrillar ANA staining. Rim staining was an insensitive indicator of nDNA antibody. An enzyme immunoassay (EIA), specific for anti-SS-B was more sensitive than CEP and identified this antibody in 28 sera, compared with 18 for CEP.
We evaluated the Technicon RA-1000 analyzer, with emphasis on its potential for user-defined method development. Optical linearity and sample pipetting linearity were good. The reagent pipetting system delivered slightly less than the nominal amount, owing to the volumetric effect of added mixing bubbles. Carryover of aqueous solutions was negligible. The instrument had good adaptability for user-defined methods and performed well in method comparisons. The observed dynamic range for enzymes (0-3000 U/L) was excellent. The worklisting software performed its intended functions well, but has limitations. We believe that the RA-1000 represents a significant contribution to the practice of clinical chemistry. A sophisticated benchtop machine, it includes several innovations, along with a few problems that are peculiar to its technology.
A group of 52 patients with premature rupture of the membranes (PROM) before 34 weeks' gestation were evaluated prospectively and managed expectantly. Of 42 patients who were delivered of their infants, 26 (61.9%) had significant chorioamnionitis on histopathology, and 18 had positive microbial cultures at delivery. However, only seven patients (16.7%) developed clinical signs of chorioamnionitis. There were no maternal deaths or perinatal deaths attributable to sepsis. Only two infants (less than 5%) had positive blood cultures. All patients were assessed daily for the development of chorioamnionitis. Amniocenteses were not routinely performed. White blood cell counts, band neutrophil counts, and erythrocyte sedimentation rate determinations were found to be unreliable. C-reactive protein determinations were found most reliable with a high sensitivity and specificity. Elevated C-reactive protein levels correlated better with pathologic confirmation of chorioamnionitis than with the clinical febrile morbidity. Clinical implications for the management of PROM are discussed.
The authors studied the effectiveness of ephedrine given intramuscularly before epidural anaesthesia with bupivacaine 0.5 per cent in three groups of patients undergoing elective caesarean section. The patients received intramuscular saline as a placebo, ephedrine 25 mg or ephedrine 50 mg, 15 to 30 minutes before anaesthesia. The incidence of hypotension was 8 to 12 per cent in all three groups. Prophylactic intramuscular ephedrine did not lower the incidence of hypotension significantly. Intramuscular ephedrine 50 mg caused a persistent hypertension in eight out of 12 patients and was associated with an increase in umbilical artery [H+] (decrease in pH). No differences were observed in other indices of neonatal well-being. The prophylactic use of intramuscular ephedrine before epidural anaesthesia for caesarean section is not recommended.
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We have developed an high performance liquid chromatographic procedure employing amperometric detection for the measurement of urinary free norepinephrine, epinephrine and dopamine. The between-day precision (C.V.) at various concentrations of the above analytes varied from 4.8-11.6%. There was negligible between-urine difference in the percent recovery of norepinephrine and epinephrine but considerable between-urine difference for dopamine. The procedure has been used to determine reference ranges in infants, children and adults. Its preliminary application to the laboratory detection of neural crest tumors is also described.
The occurrence of Bartter's syndrome is described in a 74-year-old woman with a fractured hip. She showed hypokalemia and elevated levels of plasma renin and aldosterone. Only with difficulty did large doses of potassium supplementation raise the serum potassium level. After discontinuation of the exogenous potassium, there was a good response to treatment with anti-inflammatory agents such as indomethacin and aspirin.
Over a period of two years, 40,000 newborn infants in South Australia have been screened for congenital hypothyroidism by the measurement of thyroxine and, on selected samples, of thyroid stimulating hormone. Samples were those obtained for an established newborn screening programme in the State. Eight infants with hypothyroidism were detected; in seven, this was due to congenital agenesis of the thyroid gland and one infant had residual thyroid tissue. A further three sick infants had abnormalities of thyroid function; in two, this was transient and reverted to normal after several weeks and the third infant died. Three infants had thyroxine-binding globulin deficiency.