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Biomedical subjects

M Kauppi

Publications and source records attributed to M Kauppi.

At least 19 recordsLinked to original sources
PubMed2005

High prevalence of asymptomatic cervical spine subluxation in patients with rheumatoid arthritis waiting for orthopaedic surgery.

OBJECTIVE: To study the prevalence of cervical spine subluxation in patients with rheumatoid arthritis waiting for orthopaedic surgery, and symptoms that might be associated with the disorders. METHODS: 194 patients with rheumatoid arthritis were referred for orthopaedic surgery at Jyväskylä Central Hospital, 154 (79%) of whom volunteered for the present study including clinical examination, laboratory tests, radiographs of the cervical spine, hands, and feet, and self report questionnaires. Definition of anterior atlantoaxial subluxation (aAAS) was >3 mm and of subaxial subluxation (SAS)>or=3 mm. Atlantoaxial impaction (AAI) was analysed following to the Sakaguchi-Kauppi method. RESULTS: 67 patients (44%) had cervical spine subluxation or previous surgical fusion. The prevalence of aAAS, AAI, SAS, or previous fusion was 27 (18%), 24 (16%), 29 (19%), and 8 (5%), respectively; 69% of patients with cervical spine subluxations (those with fusions excluded) reported neck pain, compared with 65% of patients without subluxations (p=0.71). The prevalence of occipital, temporal, retro-orbital, and radicular pain in upper extremities was similar in patients with or without cervical spine subluxations (54% v 43%; 17% v 31%; 25% v 24%; 47% v 48%, respectively). However, patients with subluxations were older, had longer disease duration, more active disease, poorer function according to the Health Assessment Questionnaire, and had more often erosive disease. CONCLUSIONS: Asymptomatic cervical spine subluxation is common in patients with rheumatoid arthritis waiting for orthopaedic surgery. Regardless of symptoms, the possibility of cervical spine subluxation in patients with severe rheumatoid arthritis should be considered in preoperative evaluation.

Aged↗
PubMed2005

Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis.

OBJECTIVE: To determine the influence of HLA-B27 homozygosity and HLA-DRB1 alleles in the susceptibility to, and severity of, ankylosing spondylitis in a Finnish population. METHODS: 673 individuals from 261 families with ankylosing spondylitis were genotyped for HLA-DRB1 alleles and HLA-B27 heterozygosity/homozygosity. The frequencies of HLA-B27 homozygotes in probands from these families were compared with the expected number of HLA-B27 homozygotes in controls under Hardy-Weinberg equilibrium (HWE). The effect of HLA-DRB1 alleles was assessed using a logistic regression procedure conditioned on HLA-B27 and case-control analysis. RESULTS: HLA-B27 was detected in 93% of cases of ankylosing spondylitis. An overrepresentation of HLA-B27 homozygotes was noted in ankylosing spondylitis (11%) compared with the expected number of HLA-B27 homozygotes under HWE (4%) (odds ratio (OR) = 3.3 (95% confidence interval, 1.6 to 6.8), p = 0.002). HLA-B27 homozygosity was marginally associated with reduced BASDAI (HLA-B27 homozygotes, 4.5 (1.6); HLA-B27 heterozygotes, 5.4 (1.8) (mean (SD)), p = 0.05). Acute anterior uveitis (AAU) was present in significantly more HLA-B27 positive cases (50%) than HLA-B27 negative cases (16%) (OR = 5.4 (1.7 to 17), p<0.004). HLA-B27 positive cases had a lower average age of symptom onset (26.7 (8.0) years) compared with HLA-B27 negative cases (35.7 (11.2) years) (p<0.0001). CONCLUSIONS: HLA-B27 homozygosity is associated with a moderately increased risk of ankylosing spondylitis compared with HLA-B27 heterozygosity. HLA-B27 positive cases had an earlier age of onset of ankylosing spondylitis than HLA-B27 negative cases and were more likely to develop AAU. HLA-DRB1 alleles may influence the age of symptom onset of ankylosing spondylitis.

Adult↗
PubMed2005

Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis.

Several studies have identified the PTPN22 allelic variant 1858 C/T that encodes the R620W amino-acid change as a putative susceptibility factor in autoimmune diseases. The current study was undertaken to examine a large cohort of Finnish rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) subjects using both population control and, importantly, family-based association methods. The latter is particularly important when, as is the case for the 1858 C/T polymorphism, the frequency of the variant allele (T) differs in both major ancestral populations and in subpopulations. The analysis of rheumatoid factor-positive 1030 RA probands from Finland provides strong support for association of this variant in both population studies (allele specific odds ratio (OR)=1.47, 95% confidence interval (CI)=1.27-1.70, P=3 x 10(-7)) and in family studies (P<10(-6)). In contrast, no allelic association was seen with JIA (230 probands) and only weak evidence for a genotypic effect of 1858T homozygotes was observed in this population.

Alleles↗
PubMed2005

Capability for daily activities in old people with rheumatoid arthritis: a population based study.

OBJECTIVE: To describe the functional capacity for daily activities in old people with clinical rheumatoid arthritis (including juvenile rheumatoid arthritis (JRA)) in a population based cohort. METHODS: A cohort of 700 people was randomly collected from the population older than 75 years in a Finnish town. Altogether 601 persons (86%) participated. Data were collected from clinical records and by interview, clinical examination, and questionnaire. Ability to carry out activities of daily living (ADL) was assessed by the Barthel index, and the IADL (instrumental activities of daily living) by the Lawton and Brody questionnaire. RESULTS: 16 people had clinical rheumatoid arthritis (one with JRA). The prevalence was 16/601 (2.7% (95% confidence interval, 1.7% to 4.5%)). Eight patients with rheumatoid arthritis (50%) obtained the best possible ADL figures, while three (19%) had very poor results. Seven (44%) could not dress themselves without help. Three (19%) were unable to walk, and five (31%) could not climb stairs. Sex and age adjusted results showed no statistical difference (ADL and IADL) between patients with clinical rheumatoid arthritis and rest of the cohort. Four patients (25%) had dementia, which was associated with the poor functional capacity. CONCLUSIONS: The prevalence of the disease was unexceptional. The ability of old people with rheumatoid arthritis to carry out activities of daily living did not differ from the general population, but the disease may lead to severe disability on an individual level, especially when associated with dementia. It therefore remains a considerable challenge to the health care and social systems.

Activities of Daily Living↗
PubMed2004

A novel human leucocyte antigen-DRB1 genotyping method based on multiplex primer extension reactions.

We have developed and validated a semi-automated fluorescent method of genotyping human leucocyte antigen (HLA)-DRB1 alleles, HLA-DRB1*01-16, by multiplex primer extension reactions. This method is based on the extension of a primer that anneals immediately adjacent to the single-nucleotide polymorphism with fluorescent dideoxynucleotide triphosphates (minisequencing), followed by analysis on an ABI Prism 3700 capillary electrophoresis instrument. The validity of the method was confirmed by genotyping 261 individuals using both this method and polymerase chain reaction with sequence-specific primer (PCR-SSP) or sequencing and by demonstrating Mendelian inheritance of HLA-DRB1 alleles in families. Our method provides a rapid means of performing high-throughput HLA-DRB1 genotyping using only two PCR reactions followed by four multiplex primer extension reactions and PCR-SSP for some allele groups. In this article, we describe the method and discuss its advantages and limitations.

Alleles↗
PubMed2003

The effect of transforming growth factor beta1 gene polymorphisms in ankylosing spondylitis.

OBJECTIVES: To determine whether genetic polymorphisms in or near the transforming growth factor beta1 (TGFB1) locus were associated with susceptibility to or severity of ankylosing spondylitis (AS). METHODS: Five intragenic single-nucleotide polymorphisms (SNP) and three microsatellite markers flanking the TGFB1 locus were genotyped. Seven hundred and sixty-two individuals from 184 multiplex families were genotyped for the microsatellite markers and two of the promoter SNPs. One thousand and two individuals from 212 English and 170 Finnish families with AS were genotyped for all five intragenic SNPs. A structured questionnaire was used to assess the age of symptom onset, disease duration and disease severity scores, including the BASDAI (Bath Ankylosing Spondylitis Disease Activity Index) and BASFI (Bath Ankylosing Spondylitis Functional Index). RESULTS: A weak association was noted between the rare TGFB1 +1632 T allele and AS in the Finnish population (P = 0.04) and in the combined data set (P = 0.03). No association was noted between any other SNPs or SNP haplotype and AS, even among those families with positive non-parametric linkage scores. The TGFB1 +1632 polymorphism was also associated with a younger age of symptom onset (English population, allele 2 associated with age of onset greater by 4.2 yr, P = 0.05; combined data set, allele 2 associated with age of onset greater by 3.2 yr, P = 0.02). A haplotype of coding region SNPs (TGFB1 +869/+915+1632 alleles 2/1/2) was associated with age of symptom onset in both the English parent-case trios and the combined data set (English data set, haplotype 2/1/2 associated with age of onset greater by 4.9 yr, P = 0.03; combined data set, haplotype 2/1/2 associated with greater age of onset by 4.2 yr, P = 0.006). Weak linkage with AS susceptibility was noted and the peak LOD score was 1.3 at distance 2 cM centromeric to the TGFB1 gene. No other linkage or association was found between quantitative traits and the markers. CONCLUSION: This study suggests that the polymorphisms within the TGFB1 gene play at most a small role in AS and that other genes encoded on chromosome 19 are involved in susceptibility to the disease.

Adult↗
PubMed2003

Interleukin 10 polymorphisms in ankylosing spondylitis.

Genetic polymorphisms of the IL10 promoter region have been implicated in many autoimmune diseases, including seronegative spondyloarthropathies. We studied three SNPs (IL10-1087, -824, and -597) and two microsatellites (IL10R and IL10G) lying within the promoter region of IL10 for association with susceptibility to and clinical manifestations of ankylosing spondylitis (AS), a common form of spondyloarthritis. Four hundred and sixty-eight individuals from 182 Finnish families affected with AS were studied. No association between individual IL10 promoter region polymorphisms or marker haplotype was observed with susceptibility to AS, but weak association was noted between the IL10-597 and -824 SNPs and age of disease onset (P=0.01 for each SNP). The IL10.G4 allele was associated with BASFI (corrected for disease duration) (P=0.03). We conclude that IL10 promoter polymorphisms have no significant effect on susceptibility to AS, but may play a minor role in determining age of disease onset and disease severity.

Alleles↗
PubMed2003

Evaluation of the arthritis impact measurement scales (AIMS2) in Finnish patients with rheumatoid arthritis.

OBJECTIVE: To evaluate the validity and reliability of the Finnish version of the Arthritis Impact Measurement Scales (AIMS2) in Finnish patients with rheumatoid arthritis (RA). METHODS: The reliability of the Finnish AIMS2 (Finn-AIMS2) questionnaire was assessed by test retest procedure and internal consistency of health-status scales. Construct validity was assessed by factor analysis, and convergent validity by correlation coefficients, with several disease activity and functional status variables. RESULTS: Internal consistency was 0.79-0.89 and test retest reliability 0.72-0.97. Factor analysis identified three factors: physical, psychosocial, and pain. There were strong correlations between the Finn-AIMS2 health-status scales and the Health Assessment Questionnaire (HAQ). CONCLUSION: The Finn-AIMS2 questionnaire is a reliable and valid instrument for measuring health status in middle-aged Finnish patients with RA. The results also support the applicability of AIMS2 in comparisons in multinational studies.

Activities of Daily Living↗
PubMed2003

Can we rely on magnetic resonance imaging when evaluating unstable atlantoaxial subluxation?

OBJECTIVES: To examine whether functional radiography and functional magnetic resonance imaging (MRI) are equally efficient in detecting the extent of unstable anterior atlantoaxial subluxation (aAAS) in rheumatic patients. METHODS: 23 patients with unstable aAAS (diagnosed by functional radiography) were examined by functional MRI because of a neck symptom. Twenty two patients had rheumatoid arthritis and one had juvenile idiopathic arthritis. aAAS was diagnosed if the anterior atlantoaxial diameter (AAD) was >3 mm and was considered unstable if the AAD differed by >2 mm between flexion and extension radiographs. The AAD was measured from radiographs (flexion and extension) and MRI images (flexion and neutral). RESULTS: The extent of aAAS during flexion measured by radiography was greater than that found by MRI in all 23 patients (mean difference 3 mm (95% confidence interval 2 to 4)). In four (17%) patients flexion MRI could not demonstrate aAAS detected by radiography. The difference between the AAD measurements during flexion by these two methods was substantial (that is, >or=4 mm) in nine (39%) cases. Severe aAAS (>or=9 mm) was seen in 15 (65%) patients by functional radiography and in four (17%) by functional MRI. CONCLUSIONS: The magnitude of aAAS was often substantially smaller when measured by functional MRI rather than by functional radiography. Thus one cannot rely on the result of functional MRI alone; functional radiographs are needed to show the size of unstable aAAS. The maximal extent of the subluxation must be taken into account when the possible compression of neural structures is evaluated by MRI.

Adult↗
PubMed2003

US assessment of hip joint synovitis in rheumatic diseases. A comparison with MR imaging.

PURPOSE: To assess the significance of ultrasonography (US) in detecting hip joint synovitis in patients with rheumatic diseases. MATERIAL AND METHODS: Forty patients with rheumatic disease and suspected hip joint synovitis underwent MRI and US of the hip joint. In addition to the throughout MRI evaluation, the anterior collum-capsule distance (CCD) was determined by both MRI and US. Thirteen healthy volunteers were examined with MRI to establish the criteria for normal findings in MRI when classifying hip joints to those with synovitis and those without. MRI was used as a gold standard. RESULTS: Synovitis was found using MRI in 31 hips of 22 patients (9 patients had bilateral synovitis). The intraclass correlation was 0.61 between MRI and US in measuring CCD. In classifying hip joint synovitis with US, the sensitivity of the method was 87% and specificity 42%, when the CCD criterion for synovitis was determined to be > or = 7 mm. If the cut-off point was raised to 9 mm, the sensitivity decreased to 61% while specificity increased to 94%. A difference in CCD of > or = 1 mm between the hips as an additional criterion for synovitis increased the number of false-positive findings. CONCLUSION: Measurement of CCD with US proved to be a rather inaccurate method to point out synovitis in rheumatic patients when using MRI as a reference. The main reason for this result was the thickened capsule, which US could not differentiate from a thickened synovium.

Adolescent↗
PubMed2002

Cervical spine disorders in patients with rheumatoid arthritis and amyloidosis.

The aim of this radiographic study was to ascertain the extent of inflammatory cervical spine disorders in patients with rheumatoid arthritis (RA) complicated by secondary amyloidosis (SA). The study involved 147 patients with RA and SA, whose cervical spine radiographs were available. They were treated at the Rheumatism Foundation Hospital, Heinola, during the period 1989-2000 and had had RA for a mean of 24 years. The inflammatory abnormalities of the cervical spine were studied from radiographs taken at or after the diagnosis of SA during flexion and extension. One-hundred and eleven (76%) patients had subluxations, impaction or apophyseal joint ankylosis. Atlantoaxial impaction (AAI) was seen in 76 (52%) patients and anterior atlantoaxial subluxation (AAS) in 59 (40%). Apophyseal joint ankylosis was the third most frequent finding, seen in 34 (23%) cases. A combination of AAI and apophyseal joint ankylosis was noted in 26 (18%) patients. Eight (5%) patients had undergone surgery on the cervical spine. In conclusion, inflammatory and destructive changes are frequent in the cervical spine of patients with RA and SA. Characteristic changes are AAI and AAS. RA patients with SA have more severe disease than those in epidemiological studies when cervical spine disorders are concerned.

Adolescent↗
PubMed2002

Functional long-term changes in patients with spondylarthropathy.

The objective of the study was to determine the long-term functional outcome of chronic spondylarthropathy (SpA) when measured by various functional indices. This information is important in the planning of long-term intervention studies and selection of the best follow-up methods. The study group consisted of 65 patients (21 women and 44 men) with SpA. Their mean age was 49 years and the mean age from diagnosis was 12 years. They completed several questionnaires (developed for the evaluation of functional capacity or the state of health of patients with SpA) at the beginning of the study and 3 years later. The questionnaires were: the Bath Ankylosing Spondylitis Functional Index (BASFI), the Dougados Functional Index (DFI), the Health Assessment Questionnaire for Spondylarthropathies (HAQ-S), the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), the Bath Ankylosing Spondylitis Patient Global Assessment (BAS-G) and Stiffness-VAS (on a visual analogue scale). We also asked the patients to inform us if something had occurred in their lives during the follow-up that might have affected their health. Most of the indices (BASFI, DFI, BASDAI, BAS-G and Stiffness-VAS, but not HAQ-S) showed a statistically significant reduction in the functional capacity or state of health of the patients during the follow-up. Many factors occurring during the 3-year period may have influenced the results of the indices. The natural course of the functional capacity of patients with SpA appears to be one of impairment, when evaluated using these indices. Our experience also showed that it is very difficult to separate any effect of a single treatment intervention (e.g. rehabilitation) in a long-term follow-up study, as so many interfering factors, e.g. life events and health-related factors, may affect the follow-up population over several years.

Activities of Daily Living↗
PubMed2002

Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis.

OBJECTIVE: To ascertain whether being a carrier of an autosomal recessive disease, aspartylglucosaminuria (AGU), predisposes to chronic arthritis, as does AGU disease. METHODS: A group of 173 unrelated patients with rheumatoid arthritis (RA) but with no family members with AGU each gave a blood sample for AGUFin major mutation DNA analysis. A group of 131 AGU carriers who were parents of patients with AGU completed a questionnaire on joint symptoms and gave a blood sample for rheumatoid factor (RF) analysis. Eight RF positive parents with prolonged joint symptoms had a rheumatological evaluation. RESULTS: Six patients (1/28) with RA were carriers of the AGUFin major mutation, whereas the carrier frequency among Finns in general is 1/50 to 1/85. Three AGU carriers had chronic arthritis (2.3%), and 17 (13%) were RF positive; the respective percentages among Finns in general are 1.4% and 5%. CONCLUSION: As for AGU disease, carrier status may also predispose to chronic arthritis.

Adult↗
PubMed2002

The cervical spine in patients with psoriatic arthritis.

OBJECTIVE: To establish the incidence of clinically important inflammatory cervical spine abnormalities in radiographs of patients with psoriatic arthritis (PsA). METHODS: Patients were selected from a rheumatological outpatient clinic and one ward of the Rheumatism Foundation Hospital, Heinola, Finland, by examining 160 consecutive PsA cases. A total of 65 patients (38 women, 27 men) with PsA were identified who had cervical spine radiographs available. These were evaluated for inflammatory changes, and patient records studied for disease characteristics, laboratory and clinical findings. RESULTS: In 12 cases (18%) inflammatory cervical spine changes were seen in the cervical spine radiographs. The most frequently detected was apophysial joint ankylosis, seen in seven patients (11%). Anterior atlantoaxial subluxation (aAAS) was seen in five (8%) and atlantoaxial impaction in three (5%). In 20 of the 40 patients who had the rotational range of neck motion measured the measurement was < or =45 degrees either to the left or the right side. CONCLUSION: Inflammatory cervical spine changes were not commonly seen in radiographs of patients with PsA. Apophysial joint ankylosis and aAAS were detected most often. PsA may decrease the rotational range of neck motion significantly.

Adult↗
PubMed2001

The cervical spine in mutilant rheumatoid arthritis.

The purpose of this study was to detect the frequency of inflammatory cervical spine changes and characteristic features such as resorption in rheumatoid arthritis (RA) with arthritis mutilans (AM) hand deformity. The series included 23 patients with AM hand deformity who fulfilled the 1987 American Rheumatism Association criteria for RA. Cervical spine radiographs were evaluated for subluxations, atlantoaxial impaction (AAI), and apophyseal joint ankylosis. Assessment of the severity of inflammatory changes in the cervical spine was based on former radiographic criteria for operation. Twenty patients (87%) showed subluxations, AAI, or apophyseal joint ankylosis in the cervical spine. Anterior atlantoaxial subluxation (aAAS) was observed in nine (39%), AAI in 13 (57%), and apophyseal joint ankylosis in 12 (52%). Six (26%) had been operated on the cervical spine. Patients with AM hand deformity evinced frequent and severe inflammatory cervical spine changes often requiring operation. Resorptive change (AAI) in the upper cervical spine and ankylosis of apophyseal joints were the most characteristic abnormalities in these patients.

Adolescent↗