Biomedical subjects

V Lilleby

Publications and source records attributed to V Lilleby.

7 recordsLinked to original sources

PubMed2005

Systemic lupus erythematosus and the extended major histocompatibility complex--evidence for several predisposing loci.

OBJECTIVE: Systemic lupus erythematosus (SLE) is an autoimmune disease reported to be associated with several alleles in the HLA complex. The purpose of this study was to systematically examine the extended HLA complex (xMHC) in order to get an overview of the primary predisposing genetic factors. MATERIALS AND METHODS: One hundred and sixty-four SLE patients and 254 healthy, unrelated controls were genotyped for HLA-DRB1, -B and -A alleles, as well as 13 microsatellites markers covering the xMHC. Moreover, we selected 335 additional controls matched with the patients for the HLA haplotypes showing the strongest associations, in order to look for additional predisposing loci. RESULTS: Two regions of the xMHC showed associations: the region covering DRB1 to B, and the extended class I region. Explicitly, DRB1*03 and B*08 displayed strong associations with SLE, which seem to be independent of each other. Furthermore, associations were seen with alleles at microsatellites D6S2225 and D6S2223, located about 3.6 Mb telomeric of HLA-B, and these were not secondary to the associations found with DRB1*03 and B*08. CONCLUSION: Both the DRB1*03 and the B*08 alleles display disease association, either implicating involvement of both alleles or caused by another yet unidentified gene(s) in linkage disequilibrium. The associations found in the extended class I region could be markers for a 'novel' predisposing locus (loci) in SLE, adding to the risk conferred by DRB1*03 and B*08. Interestingly, this region has been shown to also be associated with other autoimmune diseases, hence the gene(s) might confer a general propensity for autoimmunity.

Adolescent↗

PubMed2005

Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases.

A functional single nucleotide polymorphism, 1858C>T, in the PTPN22 gene, encoding a tyrosine phosphatase, has been reported to be associated with type I diabetes and some other autoimmune diseases. To further investigate whether this polymorphism may be a general susceptibility factor for autoimmunity, we performed an association study in five different autoimmune diseases, three previously not tested. We found an association with juvenile idiopathic arthritis (OR=1.41; P=0.04), not previously reported, and a tendency for an association with coeliac disease (OR=1.35; P=0.08). In primary sclerosing cholangitis, no association was observed (OR=0.95; P=0.8). Furthermore, we confirmed the increased risk in rheumatoid arthritis (OR=1.58; P=0.001), but could not find support for an association with systemic lupus erythematosus (OR=0.94; P=0.8). Altogether, we have provided further evidence of an association between autoimmune diseases and the 1858C>T polymorphism in PTPN22.

Arthritis↗

PubMed2000

[Felty's syndrome].

BACKGROUND: Felty's syndrome is a complication of rheumatoid arthritis whereby patients develop neutropenia of varying severity and splenomegaly. The major sources of morbidity and mortality are recurrent local and systemic infections, although some patients remain asymptomatic. MATERIAL AND METHODS: In this paper two patients with Felty's syndrome are presented. RESULTS: One patient had recurrent infections. Clinical manifestations, laboratory features and different modalities of treatment are reviewed. INTERPRETATION: Splenectomy has long been standard therapy, but disease modifying antirheumatic drugs (such as gold salts and methotrexate) and colony stimulating factors should also be considered in Felty's neutropenia complicated with infections.

Aged↗

PubMed1997

[Systemic rheumatoid arthritis].

The term systemic rheumatoid disease refers to patients with rheumatoid arthritis who have clinical or histological evidence of vasculitis or serositis, or both. Males are affected more often than females, and vasculitis may develop in almost any organ. Rheumatoid nodules, joint deformities and erosions are often present, even though the arthritis may be inactive. The condition is associated with high titers of IgG rheumatoid factor. An intermittent bolus regimen of cyclophosphamide and corticosteroids appears to be effective. Two patients with systemic rheumatoid arthritis are presented.

Arthritis, Rheumatoid↗

PubMed1997

[Remittent seronegative symmetrical synovitis with pitting edema].

The symptoms and signs of remitting, seronegative symmetrical synovitis with pitting oedema (RS3PE-syndrome) are reviewed. Three patients with the disease are described, of whom one also developed multiple myeloma. All patients presented with diffuse swelling of the hands, consisting of both arthritis and oedema. Radiological examination did not disclose erosive changes, and all patients recovered. The article includes recommendations for clinical and laboratory investigations and therapy. The condition usually has a favourable outcome.

Aged↗

PubMedDate not supplied

Disease duration, hypertension and medication requirements are associated with organ damage in childhood-onset systemic lupus erythematosus.

OBJECTIVE: To investigate the frequency of organ damage in childhood-onset systemic lupus erythematosus (SLE) and to identify disease variables and patient characteristics related to organ damage. METHODS: A cohort of 71 patients was examined in a cross-sectional study after a mean disease duration of 10.8+/-8.2 years (mean age 26.4+/-9.8 years). The occurrence of organ damage was measured by the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI). Factors analysed as possible explanatory variables of organ damage were the following: demographic variables, clinical variables at diagnosis and during disease course, as well as medication use. Growth and self-reported health status were also measured. RESULTS: The most frequent areas of organ damage were in the neuropsychiatric (28%), renal (13%) and musculoskeletal (13%) organ systems. Forty-three patients (61%) had evidence of damage. The mean SDI score was 1.3 for the whole study population. Hypertension, longer disease duration and use of cyclophosphamide were factors significantly related to an increasing SDI score in multiple linear regression analyses. Furthermore, patients with damage (SDI > or =1) compared to those without damage (SDI = 0) had a significantly higher cumulative corticosteroid dose (24.7 g versus 10.6 g) and more frequently required high-dose prednisolone at diagnosis (68% versus 43%). CONCLUSION: Evidence of organ damage was found in 61% of all patients. Long disease duration, known hypertension and use of cylophosphamide were significantly associated with an increasing SDI score. Furthermore high-dose prednisolone at diagnosis and cumulative prednisolone dose were significantly related to the presence of organ damage.

Adolescent↗

PubMedDate not supplied

Pulmonary involvement in patients with childhood-onset systemic lupus erythematosus.

OBJECTIVE: Pulmonary involvement is a common finding in adults with systemic lupus erythematosus (SLE). The aim of this study was to investigate the frequency of pulmonary abnormalities in patients with childhood-onset SLE, with particular reference to interstitial lung disease (ILD), and to examine any association between pulmonary abnormalities and other disease-related variables. METHODS: A cohort of 60 Norwegian patients with childhood-onset SLE was examined in a cross-sectional study by high-resolution computed chest tomography (HRCT) and pulmonary function tests (PFT). Median disease duration was 11.2 years. Disease activity, cumulative organ damage and immunological markers were also assessed. RESULTS: Five patients (8%) had abnormal HRCT findings, including micronodules in four patients and bronchiectasis in one. None of the patients had radiographic evidence of ILD. PFT results were impaired in 37% of the patients, the most frequent pulmonary dysfunction was reduced carbon monoxide diffusing capacity (26%). HRCT findings, disease activity or serology did not correlate with PFTs. Reduced diffusion capacity was associated with smoking (p-value < 0.05). CONCLUSION: Lung function was moderately impaired, while the frequency of pulmonary parenchymal involvement was low. There was no radiographic evidence of ILD, which is an unexpected finding given the high frequencies reported in adult SLE patients assessed with HRCT. The results suggests that PFT values are often abnormal, but these are infrequently associated with development of ILD or other substantial parenchymal alterations in childhood-onset SLE, and do not require further HRCT investigation in asymptomatic patients.

Adolescent↗