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E D Janus

Publications and source records attributed to E D Janus.

89 records · Page 5Linked to original sources
PubMed1983

A register of individuals with inborn errors of lipoprotein metabolism and their families.

One hundred and fifty-five hyperlipidaemic families resident in the Christchurch and Dunedin areas were included on a computerised register with built in confidentiality safeguards. Investigation of the relatives of the 155 probands identified 519 with normal lipids and a further 381 with hyperlipidaemia. The presence of 536 hyperlipidaemic individuals in the population of the two areas indicates a frequency of at least 0.12% which extrapolates to approximately 3800 cases of familial hyperlipidaemia nationwide. Our findings suggest that less than half of these are likely to have been detected. The most common condition was the mendelian dominant disorder familial hypercholesterolaemia found in 108 families. The register has been used to facilitate detection of further cases of familial hyperlipidaemias and appropriate counseling as well as for detecting and reassuring normal relatives. It also facilitates the long term study of the treatment of the affected individuals.

Humans↗
PubMed1983

Hyperbetalipoproteinaemia and hyperalphalipoproteinaemia in a single family.

Twelve members of a kindred were studied of whom six showed elevated low-density lipoprotein (LDL) cholesterol levels. Within the blood related group nine showed elevated high density lipoprotein (HDL) cholesterol levels and correspondingly elevated HDL lipoprotein apoprotein levels. The members with elevated LDL also therefore had elevated HDL. There was no family history of premature vascular disease in the kindred and the 74 year old member was clinically free of ischaemic vascular disease. It is considered that the coincidence of a familial tendency to high blood LDL and HDL was not associated with appearance of premature arterial disease in this kindred.

Adolescent↗
PubMed1983

Modes of action of lipid-lowering diets in man: studies of apolipoprotein B kinetics in relation to fat consumption and dietary fatty acid composition.

The mechanisms by which dietary fat influences fasting plasma lipid concentrations have been investigated in hyperlipidaemic subjects. The synthetic and fractional catabolic (FCR) rates of the apoprotein B (apo B) of very-low density (VLDL) and low-density (LDL) lipoproteins were measured using radioiodinated autologous lipoproteins. Reductions of LDL concentration in eight subjects during low-fat (25% of energy) diets were largely explained by diminished synthesis (-20%, P less than 0.02), and possibly also by an increased FCR (+15%, P = 0.05) of LDL, compared with observations made during a high-fat (45% of energy) diet of similar fatty acid composition. VLDL apo B synthesis and FCR were not significantly altered. When a diet rich in polyunsaturated fatty acids was exchanged for one high in saturated fatty acids (fat providing 45% of energy on both occasions) in four subjects, the synthetic rates of both VLDL apo B (-31%, P less than 0.02) and LDL apo B (-23%, P less than 0.10) were reduced while their FCRs were unchanged.

Adult↗
PubMed1982

In vitro synthesis of M and Z forms of human alpha 1-antitrypsin.

mRNA was prepared from autopsy liver samples from a homozygote for alpha 1-antitrypsin deficiency (PiZZ) and from a normal (PiMM) subject. Both preparations gave equivalent synthesis of alpha 1-antitrypsin in a wheat germ cell-free system. This suggests that the deficiency of plasma alpha 1-antitrypsin associated with the Z variant is due to a failure of processing and secretion of the protein rather than of its synthesis. It is likely that it is the resultant intracellular accumulation of the Z protein rather than a deficiency of protease inhibitor that is the primary cause of the liver pathology associated with this variant.

Adolescent↗
PubMed1982

Genetic variation in human apolipoprotein E.

Genetic variation in human apoprotein E was studied using the technique of isoelectric focusing applied to delipidated very low density lipoprotein from 426 Christchurch blood donors and 7 patients with type III hyperlipoproteinemia. Six phenotypes were distinguishable by the relative proportions of the apoprotein E isomers. In the blood donors, observed frequencies for these were: E3/3 = 51.4%; E4/3 = 25.0%; E4/4 = 1.0%; E3/2 - 20.0%; E4/2 = 1.2%; and E2/2 = 1.4%. All seven patients with type III hyperlipoproteinemia exhibited phenotype E2/2. Family studies of apoprotein E variants support a mode of inheritance controlled by three alleles acting at one gene locus. On this basis, the alleles occurred in the blood donor population with frequencies of 0.72 for the epsilon 3 allele, 0.12 for the epsilon 2 allele, and 0.16 for the epsilon 4 allele. The epsilon 2 allele influenced plasma cholesterol. The mean plasma cholesterol in subjects heterozygous for the epsilon 2 allele was 5.32 mmol/l, very significantly less (P less than 0.01) than the mean of 5.84 mmol/l in an age- and sex-matched group of subjects without this allele in their genotype. The mean plasma cholesterol value of 4.92 mmol/l for the five individuals homozygous for the epsilon 2 allele was also significantly less (P less than 0.05) than for age- and sex-matched subjects without the epsilon allele, whose mean was 5.80 mmol/l.

Alleles↗
PubMed1980

Quantitative studies of very low density lipoprotein: conversion to low density lipoprotein in normal controls and primary hyperlipidaemic states and the role of direct secretion of low density lipoprotein in heterozygous familial hypercholesterolaemia.

Autologous 131I-labelled very low density lipoprotein (VLDL) and 125I-labelled low density lipoprotein (LDL) were injected into seven normal subjects and twenty-eight genetically classified hyperlipidaemic patients to quantitate lipoprotein interconversion. The apoprotein B specific activity--time curves for VLDl and intermediate density lipoprotein (IDL, density = 1 . 006--1 . 019 g/ml) intersected at or before the IDL-B maximum in thirty-one studies (five normal controls and twenty-six hyperlipidaemic subjects) implying that all IDL-B may be derived from VLDL-B. The fractional conversion of VLDL-B to LDL-B (density 1 . 019--1 . 063 g/ml) following a simultaneous spike injection of 131I-VLDL and 125-LDL was obtained by deconvolution of the 125I and 131I-LDL-B activity curves. 21--65% (mean = 44%) of VLDL-B was converted to LDL-B in twenty-three subjects studied. The mean conversion time ranged from 10 to 24 h in ten normotriglyceridaemic subjects and from 19 to 42 h (mean = 33 h) in twelve hypertriglyceridaemic subjects. In one patient with broad-beta disease the mean conversion time was 55 h. LDL-B production from VLDL-B and total LDL-B synthetic rate were essentially equal in normal controls and normocholesterolaemic subjects and in the patient with broad-beta disease. But in all six patients with familial hypercholesterolaemia LDL-B synthetic rate significantly exceeded LDL-B production from VLDL-B, indicating direct secretion of 20--72% of LDL-B at a rate which correlates positively with plasma LDL concentration. Three of five patients with familial combined hyperlipidaemia showed a lesser but nevertheless significant direct secretion of LDL-B.

Humans↗
PubMed1980

Kinetic bases of the primary hyperlipidaemias: studies of apolipoprotein B turnover in genetically defined subjects.

Autologous 131I-labelled very low density lipoprotein (VLDL) and 125I-labelled low density lipoprotein (LDL) were injected into seven normal subjects and into forty-three hyperlipidaemic patients, classified into groups on the basis of family studies and clinical findings, to quantitate VLDL and LDL apolipoprotein B kinetics. In normal subjects, mean VLDL-B peptide synthetic rate was 15 . 1 mg kg-1 day-1, mean LDL-B peptide synthetic rate 7 . 7 mg kg-1 day-1 and mean LDL-B fractional catabolic rate (FCR) 0 . 31 day-1. In heterozygous familial hypercholesterolaemia (n = 14) VLDL-B peptide production was normal in patients with normal triglyceride levels; in those with high triglyceride levels there was either VLDL overproduction or a catabolic defect. LDL-B peptide synthetic rates ranged from high normal to increased (8 . 5--18 . 0 mg kg-1 day-1) and LDL-B peptide FCR values were markedly reduced (0 . 14--0 . 28 day-1) confirming the presence of a defect in LDL catabolism but indicating over-production as well. In familial combined hyperlipidaemia (n = 11) VLDL-B peptide production ranged from normal to elevated (13 . 9--44 . 4 mg kg-1 day-1, mean 23 . 8 mg kg-1 day-1) correlating with the VLDl triglyceride level (i.e. with the phenotypic expression of the disorder). LDL-B peptide production ranged from high normal to markedly increased (8 . 9--19 . 5 mg kg-1 day-1, mean 12 . 2 mg kg-1 day-1) and correlated with LDL cholesterol levels (i.e. the phenotype), (r = +0 . 66, P < 0 . 05). Three patients with unclassified hypercholesterolaemia had increased LDL-B peptide synthetic rates. One patient with remnant hyperlipoproteinaemia (type III) had a high normal VLDL-B peptide synthetic rate, 17 . 3 mg kg-1 day-1, and a strikingly low FCR of VLDL-B. In familial hypertriglyceridaemia (three patients) there was a low VLDL-B peptide FCR. In unclassified hypertriglyceridaemia VLDL over-production was the finding in seven patients but four patients appeared to have catabolic defects only. Overall there were significant hyperbolic relationships between VLCL-B peptide FCR and VLDL-B peptide concentration (r = -0 . 78, P < 0 . 001, for the log/log relationship) and between LDL-B peptide FCR and LDL cholesterol (r = -0 . 88, P < 0 . 001 for the log/log relationship.)

Adult↗
PubMed1976

The evaluation of lipoprotein changes during gemfibrozil treatment.

During treatment with gemfibrozil, 1200 mg daily, total serum triglyceride levels were reduced in 7 of the 11 patients, owing chiefly to a fall in VLDL triglyceride levels. Total serum cholesterol responded variably, falling in a majority of patients with hypercholesterolaemia. High density lipoprotein cholesterol rose during treatment in patients who had either hypertriglyceridaemia or hypercholesterolaemia.

Cholesterol↗
PubMed1975

Alpha-1-antitrypsin variants in New Zealand.

Twelve percent of a sample of New Zealand Europeans were found to have variant forms of alpha-1-antitrypsin. The distribution of different variants was similar to that found in other Northern European populations. Four percent were heterozygotes for the deficiency state (Z allele) which predisposes to both emphysema and cirrhosis. An initial survey of New Zealand Maoris suggests that although they have a lower overall incidence of variants, there is an increased frequency of the deficiency Z allele. This may be a contributory factor to the susceptibility of the Maori to respiratory and liver disease.

Adult↗
PubMed1975

Alpha-1-antitrypsin deficiency in New Zealand.

A severe deficiency of the serum protein alpha-1-antitrypsin can be expected to occur in 1 in 750 European New Zealanders. It can usually be identified by a faint or absent alpha-1 band on serum protein electrophoresis. Forty-seven cases are presented. 31 phenotype ZZ and 16 phenotype SZ. Eighteen have developed emphysema usually by age 40 years, two show childhood liver disease. One adult died of liver disease and three of the emphysema patients had liver abnormalities at post mortem. The remainder, mainly aged less than 30 years, are as yet asymptomatic. Individuals at risk should be protected from respiratory irritants (cigarettes, dusty environments and chest infections) and liver toxins (e.g., alcohol). The partial deficiency state (MZ) which occurs in 4 percent of the population also predisposes to respiratory and perhaps liver disease.

Adolescent↗
PubMed1975

Drug overdoses: Is one stomach washing enough?

Naso-gastric tube aspirates were taken from patients with drug overdoses who had been given a gastric lavage and admitted to the resuscitation ward. Although care was taken to conduct thorough washouts, it was found that these were not always efficient. In several cases an amount equivalent to a therapeutic dose of drug was recovered in later aspirates. There was no correlation between the amount of drug recovered in the initial stomach washings and that found in the aspirates. It was concluded that routine aspiration of gastric contents at hourly intervals after admission was of considerable value in removing any residual drugs.

Amitriptyline↗