Apolipoprotein E (apoE) polymorphism is one of the genetic determinants of serum cholesterol values. The apoE epsilon4 allele has been associated with advanced coronary heart disease (CHD) diagnosed by angiography, but the role of the apoE genotype in atherosclerosis has not been confirmed at vessel-wall level, nor is any age-dependent effect of the apoE genotype on the development of CHD known.
The right and left anterior descending coronary arteries (RCA and LAD) and the aorta from 700 male autopsy cases (Helsinki Sudden Death Study) in 1981-1982 and 1991-1992 (average age 53 years, range 33 to 70 years) were stained for fat, and all areas covered with fatty streaks, fibrotic plaques, and complicated lesions were measured. In the RCA and LAD, the apoE genotype was significantly associated with the area of total atherosclerotic lesions in men
Apolipoprotein A-IV (apoA-IV) is a glycoprotein constituent of triglyceride-rich and high-density lipoproteins (HDL) and may thus play an important role in lipid metabolism. In Finland two common isoforms (A-IV-1 and A-IV-2) of apoA-IV have been found. The isoforms are the result of the G to T substitution in the third base of the codon 360 in the apoA-IV-2 allele of the apoA-IV gene. The purpose of the study was to determine the apoA-IV allele frequencies in the Saami and the Finns, and to relate the apoA-IV phenotypes to serum lipids. The sample was drawn in connection with a Reindeer Herders' Health Survey performed in northern Finland in 1989. The study group included 248 men with known ethnic origin, Saami and Finns, who lived in the area of the nine northernmost municipalities of Finland. ApoA-IV phenotypes from 71 Saami (both parents Saami) and 177 Finns (both parents Finns) were determined by isoelectric focusing and Western blotting. Serum lipids were determined enzymatically. ApoA-IV allele frequencies in the Saami and the Finns were for A-IV-1 0.894 vs 0.944 and for A-IV-2 0.106 vs 0.056, respectively (chi2-test, P
A recommendation for basic urinalysis and urine culture is published as an attempt to improve the clinical value of urinary tests and to create a system that utilizes laboratory work as sensibly as possible. More clinical background information is needed when basic urinalysis and urine culture is performed in stages. Collection and storage of urine specimens are standardized in addition to used equipment and bacterial culture. Cytological supravital stain improves qualitative and quantitative findings of urine sediment cytology. A close cooperation between central hospital district is necessary and stressed for further bacterial cultures in more complicated microbiological findings.
Dipeptidyl carboxypeptidase 1 (DCP1) and butyrylcholinesterase (BCHE) gene interactions with the apolipoprotein E epsilon4 allele as risk factors in Alzheimer's disease and in Parkinson's disease with coexisting Alzheimer pathology.
Department of Clinical Chemistry, Centre for Laboratory Medicine, Tampere University Hospital, Finn-Medi 2, Third Floor, PO Box 2000, FIN-33521 Tampere, Finland. klkama@uta.fi
Alzheimer's disease (AD) and Parkinson's disease (PD) are genetically heterogeneous. Dipeptidyl carboxypeptidase 1 (DCP1) and butyrylcholinesterase (BCHE) genes may modify the risk of these disorders. We investigated whether common polymorphisms present in these genes operate as risk factors for AD and PD in Finnish subjects, independently or in concert with the apolipoprotein E epsilon4 allele (APOE epsilon4). Eighty late onset sporadic AD patients, 53 PD patients (34 of whom had concomitant AD pathology), and 67 control subjects were genotyped for the insertion (I)/deletion (D) polymorphism of DCP1 and the K variant of BCHE. In logistic regression analysis, the DCP1 *I allele in combination with APOE epsilon4 significantly increased the risk of AD (OR 30.0, 95% CI 7.3-123.7), compared to subjects carrying neither of the alleles. Similar analysis showed that the risk of AD was significantly increased in subjects carrying both the BCHE wild type (*WT/*WT) genotype and epsilon4 (OR 9.9, 95% CI 2.9-33.8), compared to those without this BCHE genotype and epsilon4. Further, the risk of PD with AD pathology was significantly increased for carriers of DCP1 *I and epsilon4 (OR 8.0, 95% CI 2.1-31.1). We thus conclude that, in Finns, interaction between DCP1 *I and epsilon4 increases the risk of AD as well as of PD with coexisting Alzheimer pathology, which underlines the importance of the DCP1 I/D polymorphism in the development of Alzheimer neuropathology, whereas the wild type BCHE genotype in combination with epsilon4 had a combined effect with regard to the risk of AD.
Little is known about alcohol consumption and the efficiency of alcohol questionnaires among women. In the present study 40-year-old (n = 90) and 45-year-old (n = 75) women participating in a health screening gave a self-report about their alcohol consumption and filled out the Malmö modified Michigan Alcoholism Screening Test (Mm-MAST) and the CAGE questionnaires. Teetotallers comprised 11% of the 40-year-old group and 8% of the 45-year-old women. CAGE, but not Mm-MAST worked with the traditional cut-off point of two recommended for men. When the criterion for heavy drinking was a self-reported consumption > or = 140 g of absolute alcohol per week or a positive (> or = 2) finding in the CAGE or > or = 4 'yes' answers in the Mm-MAST, 20% of the 40-year-old and 17% of the 45-year-old group (together 19%) proved positive. Neither of the two questionnaires nor self-report alone worked perfectly for identifying the heavy drinker group (n = 31) screened. Using the three above criteria; of the heavy drinkers 52% were detected by self-report, 55% by CAGE, and 45% by Mm-MAST. CAGE in combination with self-report detected 90% and this combination, being short and simple, can be recommended for clinical practice.
The suitability of the nine-question Malmö modified Michigan Alcoholism Screening Test (Mm-MAST) was tested on 133 40-year-old men and 140 45-year-old men attending a voluntary population health screening in a typically week-end-drinking society. With a cut-off level of two 'yes' answers 29% of the middle-aged male population has been reported to give a positive result in this questionnaire. In our study alcoholics were excluded. The amount and type of alcohol consumed per week was asked. The subjects were divided into three groups: (1) social drinkers (0 or 1 'yes' answer), (2) suspect abusers (two 'yes' answers), and (3) abusers (three or more 'yes' answers or drinking at least 280 g absolute alcohol per week). Group 2 reported drinking more than group 1, but according to biological markers they belonged better to group 1 than group 3. With the originally recommended cut-off level of two 'yes' answers 50.8% of 40-year-old men and 36.5% of 45-year-old men in our study proved positive. With the three 'yes' answer criterion the corresponding percentages were 28.5 and 24.0. Forty- and 45-year-old men in group 2 gave many positive answers in the question concerning week-end drinking and avoidance of alcohol for a time, as did 40-year-old men in the question concerning bad conscience after drinking. Beer and spirits were the most popular beverage combination and week-end drinking was the commonest drinking habit. The number of positive answers correlated well with the announced amount of alcohol.(ABSTRACT TRUNCATED AT 250 WORDS)
Serum cholesterol, high-density lipoprotein (HDL) cholesterol and triglycerides of 85 year old home-living persons were compared to those of controls and of patients who had severe coronary artery disease (CAD) at an early age. Eighty-five-year-olds had higher serum HDL cholesterol than controls and patients with CAD. Patients with severe CAD had higher serum total cholesterol and serum triglycerides and lower HDL-cholesterol than other groups. When 85-year-old persons were divided into quintiles according to serum HDL cholesterol, women with highest HDL cholesterol had lowest mortality, men with lowest HDL cholesterol had highest mortality. We conclude that elevated HDL cholesterol is correlating with longevity and low HDL cholesterol with CAD at an early age.
Consecutive sections from 33 paraffin-embedded human breast carcinomas without intratumor heterogeneity were sent for flow cytometric (FCM) DNA analysis in two experienced laboratories. FCM instruments, run conditions, and tumor disaggregation procedures were different in the two laboratories. In four cases (12%) the laboratories reported a different DNA ploidy and DNA index (DI). These variations were due to analytical reasons, differences in the detection rates of near-diploid and tetraploid DIs, not due to interpretation of data or the criteria used for aneuploidy. There was a significant correlation between S-phase fractions (SPF) obtained in the two laboratories (r = 0.90, p less than 0.0001) if only cases with concordant DI were included. Discordant DI usually led to very different SPF values.
Between 2001 and 2003, there was an outbreak of tuberculosis in a Swedish zoo which involved elephants, giraffes, rhinoceroses and buffaloes. Cultures of trunk lavages were used to detect infected elephants, tuberculin testing was used in the giraffes and buffaloes, and tracheal lavage and tuberculin testing were used in the rhinoceroses. The bacteria isolated were investigated by spoligotyping and restriction fragment length polymorphism. Five elephants and one giraffe were found to have been infected by four different strains of Mycobacterium tuberculosis.
The enzyme paraoxonase (PON) can eliminate lipid peroxides and is believed to protect against low-density lipoprotein oxidation. A common polymorphism in the PON gene (PON1) causes an amino acid substitution of methionine (M) for leucine (L) at position 55 in the protein, which changes the activity of PON and can affect the risk of atherosclerosis. Because smoking is associated with increased lipid peroxidation, we studied the relationship between PON M/L55 polymorphism and the carotid artery intima-media thickness (IMT) in smokers or previous smokers (n = 112) and nonsmokers (n = 87). IMT was measured at 3 standardized segments by B-mode ultrasonography, and the overall mean IMT value of 199 randomly selected men (mean age 54.2 +/- 3.0 years) was calculated. Subjects with IMT > 1.7 mm in at least 1 standard site were considered to have carotid artery atherosclerotic disease (CAAD). For analysis, L55 homozygotes were compared with the M55 allele carriers. Nonsmoking L55 homozygotes had an 8.9% (95% confidence interval [CI], 1.6 to 16.8) higher overall mean IMT than M55 allele carriers. In smokers, however, the M55 allele carriers tended to have higher overall mean IMT values than L55 homozygotes. There was also a statistically significant interaction between M/L55 genotype and smoking status on CAAD (P =.009) by logistic regression analysis. Among nonsmokers, the L55 homozygotes had an odds ratio of 4.22 (95% CI, 1.06 to 16.8) for CAAD compared with nonsmoking M55 allele carriers. Contrary to nonsmokers, the smoking M55 allele carriers had an odds ratio of 2.22 (95% CI, 0.82 to 6.01) for CAAD when the L55/L55 genotype of smokers was a reference group. These data suggest that in nonsmoking men, a PON L55/L55 genotype may represent a genetic risk factor for CAAD. The reverse effect in smokers implies that the ability of PON to protect against CAAD is influenced by cigarette smoking. The efficiency of this inhibition probably depends on the PON M/L55 genotype.
