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Biomedical subjects

Tom Krusius

Publications and source records attributed to Tom Krusius.

7 recordsLinked to original sources
PubMed2006

An unfavorable combination of Factor V Leiden with age, weight, and blood group causes high risk of pregnancy-associated venous thrombosis: a population-based nested case-control study.

INTRODUCTION: Hereditary and acquired risk factors increase the risk for thrombosis among pregnant women. Few risk estimates are, however, well established. The aim of the present study was to assess risk for pregnancy-associated venous thrombosis of factor V Leiden (FVL), FII G20210A, FV A4070G, MTHFR C677T, TFPI C536T, PROC T38853G, FXIII V34L, blood group, age, and body mass index (BMI), and their interactions and public health impact. MATERIALS AND METHODS: Study design is a population-based nested case-control study of 100,000 consecutive pregnancies in Finland. Cases and controls were identified by combining national registers. Thirty four cases with objectively diagnosed venous thrombosis and 641 controls were studied. RESULTS: FVL (OR 11.6, 95% CI 3.6-33.6), age >35 vs. <25 (OR 6.3, 95% CI 1.7-23.1), and BMI >30 vs. <25 (OR 5.6, 95% CI 2.3-13.9) were associated with thrombosis. Overall absolute risk of a FVL carrier was 1 in 314. FVL interacted with age, BMI, and blood group. Population attributable risk proportion was 19% for FVL, 23% for age >35, 33% for BMI >25, and 35% for non-O blood group. Unexpectedly, the prevalence of FVL increased with age in controls. CONCLUSIONS: FVL appeared as a strong risk factor for pregnancy-associated venous thrombosis. Especially in elderly overweight mothers, FVL may cause a substantial thrombosis risk. Further studies are needed to confirm the increased prevalence of FVL in elderly mothers with normal pregnancies.

Adolescent↗
PubMed2006

Population-based audit of fresh-frozen plasma transfusion practices.

BACKGROUND: In contrast to decreasing red blood cell (RBC) consumption in Finland, the use of fresh-frozen plasma (FFP) has been increasing since the 1990s, suggesting that FFP use may not always be optimal. To improve transfusion practices, knowledge of current FFP use and regional, national, and international comparison is necessary. STUDY DESIGN AND METHODS: Nine (of 21) Finnish hospital districts participated. Data concerning FFP-transfused patients in the years 2002 and 2003 were collected from existing computerized medical records into a yearly updated database as part of a Finnish benchmarking project on blood component use. RESULTS: Data included 11,590 FFP-transfused patients and 60,240 FFP units (71.2% of Finnish FFP use) delivered to Finnish hospitals during the study period. FFP was transfused most often to surgery patients (62.8% of FFP transfusion hospital visits) with blood circulatory system problems (32.3% of surgically treated and FFP-transfused patients). In only 65.9 percent of FFP-transfused patients were coagulation variables measured at any point in the hospital episode, and FFP was usually transfused in paired doses. Mean FFP use in Finland is comparable to other countries. CONCLUSION: Although overall FFP use in Finland is similar to that of international figures, it does not ensure best practice. Perioperative staff, being the largest FFP user, should be encouraged to dose FFP based on coagulation variables and body weight. Improvement efforts should be directed to patient groups transfused with large amounts of FFP.

Blood Component Transfusion↗
PubMed2005

Genetic background of type I protein C deficiency in Finland.

In contrast to other populations the usually rare type II form of protein C deficiency is as common in Finland as type I deficiency. We recently reported that a single mutation explained virtually all cases of type II protein C deficiency in Finland, indicating strong founder effect. We now investigated in the same population the genetic background of type I protein C deficiency. Thirty-eight apparently unrelated families were studied. They represent the vast majority of all families with type I deficiency in Finland. A genetic defect was identified in 23 (61%) families who carried 13 different mutations. Only three of the 13 mutations have been reported in other populations. Unlike in type II deficiency, considerable heterogeneity in mutations was found in type I deficiency. Our results indicate interesting differences in mutational histories of these two different forms of protein C deficiency in Finland.

DNA Mutational Analysis↗
PubMed2005

Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

BACKGROUND: Rare mutations of the epithelial sodium channel (ENaC) result in the monogenic hypertension form of Liddle's syndrome. We decided to screen for common variants in the ENaC beta and gamma subunits in patients with essential hypertension and to relate their occurrence to the activity of circulating renin-angiotensin-aldosterone system. METHODS: Initially, DNA samples from 27 patients with low renin/low aldosterone hypertension were examined. The DNA variants were subsequently screened for in 347 patients with treatment-resistant hypertension, 175 male subjects with documented long-lasting normotension and 301 healthy Plasma renin and aldosterone levels were measured under baseline conditions and during postural and captopril challenge tests. RESULTS: Two commonly occurring betaENaC variants (G589S and a novel intronic i12-17CT substitution) and one novel gammaENaC variant (V546I) were detected. One of these variants occurred in a heterozygous form in 32 patients, a prevalence (9.2%) significantly higher than that in normotensive males (2.9%, p = 0.007) and blood donors (3.0%, p = 0.001). betaENaC i12-17CT was significantly more prevalent in the hypertension group than in the two control groups combined (4.6% vs. 1.1%, p = 0.001). When expressed in Xenopus oocytes, neither of the two ENaC amino acid-changing variants showed a significant difference in activity compared with ENaC wild-type. No direct evidence for a mRNA splicing defect could be obtained for the betaENaC intronic variant. The ratio of daily urinary potassium excretion to upright and mean (of supine and upright values) plasma renin activity was higher in variant allele carriers than in non-carriers (p = 0.034 and p = 0.048). CONCLUSIONS: At least 9% of Finnish patients with hypertension admitted to a specialized center carry genetic variants of beta and gammaENaC, a three times higher prevalence than in the normotensive individuals or in random healthy controls. Patients with the variant alleles showed an increased urinary potassium excretion rate in relation to their renin levels.

Adult↗