PubMed Health⌕ Search

Biomedical subjects

W H Price

Publications and source records attributed to W H Price.

At least 19 recordsLinked to original sources
PubMed1991

Rapid diagnosis of familial defective apolipoprotein B-100 by Amplification Refractory Mutation System.

We report a method for the diagnosis of familial defective apolipoprotein (apo) B-100, using the Amplification Refractory Mutation System (ARMS) and either whole blood or extracted DNA in the polymerase chain reaction. Normal and mutant alleles are identified by using two allele-specific oligonucleotide primers, each with the same common primer, to amplify a 187-bp fragment of the apo B-100 gene. Fragment amplification occurs only when the allele-specific primer matches the nucleotide sequence of the template DNA. The amplification product is detected by agarose gel electrophoresis, followed by staining with ethidium bromide. The technique is simple, reliable, and robust. It avoids the use of radiation or hybridization with allele-specific oligonucleotide probes, and is well suited for use in the routine clinical chemistry department.

Apolipoprotein B-100↗
PubMed1991

Analysis of apolipoprotein E genotypes by the Amplification Refractory Mutation System.

The Amplification Refractory Mutation System (ARMS) has been successfully applied to the detection of apolipoprotein (apo) E genotypes in human DNA extracted from peripheral blood. By using four allele-specific oligonucleotide primers and one common primer, one can identify the three common alleles of the apo E genetic polymorphism, epsilon 2, epsilon 3, and epsilon 4. The system amplifies two sequences of the apo E gene, one of 181 bp and the other 319 bp. These sequences are amplified when DNA containing a particular allele is incubated with its allele-specific oligonucleotide primer and a common primer. The method is simple, reliable, and nonisotopic and obviates the need for digestion with restriction endonucleases or for hybridization with allele-specific oligonucleotide probes. Genotyping DNA by this method overcomes the problem of post-translational modification of the apo E phenotype encountered with isoelectric focusing of the mature plasma apo E protein.

Alleles↗
PubMed1989

DNA restriction fragment length polymorphisms as markers of familial coronary heart disease.

246 of 713 men aged 30 to 59 years had first-degree relatives who had had coronary heart disease (CHD) by the age of 60; men with a family history of CHD were twice as likely to have CHD themselves, compared with those without such a family history. At least 75% of the difference was accounted for by CHD in men with minor alleles of 4 restriction fragment length polymorphisms (RFLPs) in the region of the apolipoprotein (apo) AI and apo CIII genes. The RFLPs were identified with the restriction enzymes XmnI, PstI, MspI, and SacI. Each polymorphism has two alleles (major and minor), designated X1 and X2, P1 and P2, M1 and M2, and S1 and S2, respectively. In men with any one of the minor alleles, a family history of CHD was associated with a 234% increase in CHD prevalence. In men with major alleles only, a family history of CHD was not associated with any significant increase in CHD. The effect of the minor alleles was not significantly altered when plasma lipids and other variables except for age were taken into account. The association between the minor RFLP alleles and polymorphic gene variants (probably the apo AI, apo CIII, or both genes) which enhance liability to CHD accounted for almost 20% of total CHD in this population.

Adult↗
PubMed1989

The prevalence of psychiatric disorder among female new referrals to a migraine clinic.

In a consecutive series of 46 female new referrals to a migraine clinic, 17 patients (37%) complained of increased irritability and/or depression in association with more than 50% of their migraine attacks. This was not related to the attack frequency or duration. Sixteen patients (33%) met DSM-III criteria for a current diagnosis of an affective syndrome and when present this was significantly associated with these complaints.

Adult↗
PubMed1989

The effect of testosterone replacement on plasma lipids and apolipoproteins.

Ten men with Klinefelter's syndrome were studied to assess the effect of testosterone replacement on plasma lipids and apolipoproteins. Measurements taken before the insertion of a testosterone ester implant were compared with those obtained 1 week and 4 weeks later. Mean plasma testosterone, androstenedione, total cholesterol and calculated LDL-cholesterol increased significantly after 1 and 4 weeks. No significant changes were seen in total plasma concentrations of HDL-cholesterol, HDL-cholesterol subfractions 2 and 3 or in apoplipoproteins A-I, A-II or B. A significant correlation was seen between total cholesterol and plasma oestradiol concentrations (Rs = 0.61; P less than 0.001). A significant negative correlation was seen between the concentrations of total testosterone and total triglyceride (Rs = -0.56; P less than 0.005) but not with the other lipid parameters. Testosterone replacement is associated with slight but potentially adverse changes in plasma cholesterol levels.

Adult↗
PubMed1987

Mortality and causes of death in females with extra X chromosomes and males with extra Y chromosomes.

A prospective study of mortality in females with extra X chromosomes and males with extra Y chromosomes is reported. Among the 94 females who survived infancy and were then observed on average for 16 years there were 24 deaths compared with an expected mortality of 10.7. The greater than twofold increase is highly significant (p less than 0.005). The deaths were due to a variety of diseases but no significant increase from any single cause could be identified. Among 136 males with extra Y chromosomes observed on average for 12 years there were 10 deaths. This number is not significantly greater than the expected 6.4. No increase in mortality from a single cause was observed.

Adolescent↗
PubMed1986

Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome.

In a prospective study of 156 female patients with Turner's syndrome who had survived infancy and been followed up for an average of 17 years there were 15 deaths. The expected mortality was 3.6. Sixteen of the patients had a congenital heart anomaly and five of the deaths occurred in this group. The 10 deaths in the remaining 140 were three times as many as expected. The reduction in life expectation was 12.5 years at age 1 year, 11 years at age 20, and 10 years at age 40. Deaths were due to a broad spectrum of diseases. In the sample as a whole there were eight deaths from diseases of the circulatory system. This number is significantly greater than expected, but four were due to congenital heart disease. When patients with congenital heart disease were omitted from the sample the mortality from circulatory disorders was not significantly increased. Within the category of circulatory disorders there were three deaths from dissection of the aorta, a number which is greatly in excess of the expected. Two of these patients had no previous evidence of heart disease.

Female↗
PubMed1985

Mortality ratios and life expectancy in X chromatin positive males.

In a prospective study of 466 X chromatin positive males an increase in mortality of about 50% has been observed. The increase is associated with a loss of about five years in life span. There is no convincing evidence that the increase is concentrated at any particular age group but this possibility could not be excluded. No effect of mode of ascertainment could be demonstrated. From this study we conclude that it is likely that the mortality experienced by chromatin positive males in general is at least 115% of that experienced by normal men and could be more than 200%.

Adolescent↗
PubMed1985

Causes of death in X chromatin positive males (Klinefelter's syndrome).

The causes of death in 466 X chromatin positive males (Klinefelter's syndrome) studied prospectively over the last 25 years have been analysed. We have previously reported the overall mortality to be increased by 50% and life expectancy reduced by about five years. A highly significant increase in mortality from cerebrovascular disease was observed in the sub group considered to be most representative of X chromatin positive males in general. In the age group up to 45 years this increase could be attributed to deaths from subarachnoid haemorrhage. An increase in mortality from respiratory diseases was observed in those ascertained in psychiatric hospitals. In the sample as a whole there were small but highly significant numbers of deaths from carcinoma of the breast and aortic valve disease. The deaths from carcinoma of the breast were comparable with those expected if female mortality rates were applied.

Adolescent↗