ABSTRACT
OBJECTIVE: Juvenile idiopathic arthritis (JIA) is a complex immune-mediated disease characterized by environmental influences along with several predisposing genes in the pathogenesis. The present study was undertaken to investigate the association of polymorphisms in two candidate genes for autoimmunity, human leukocyte antigen (HLA) DRB1 and protein tyrosine phosphatase N22 (PTPN22) with JIA in Hungarian patients. METHODS: A case-control study including 150 Hungarian JIA patients and 200 sex and ethnically matched healthy controls was conducted. Genotyping for HLA-DRB1 and PTPN22 C1858T single nucleotide polymorphism (SNP) (rs2476601) was carried out by group-specific PCR amplification and by real-time PCR allelic discrimination, respectively. RESULTS: In Hungarian patients JIA was associated with HLA-DRB1*01, DRB1*08, DRB1*13 (p=0.048, p=0.002, p=0.019, respectively) with marked differences between the disease subtypes classified according to the ILAR criteria. There was no association of the PTPN22 C1858T SNP with JIA (p=0.66). No correlation was found between the presence of this PTPN22 SNP and HLA-DRB1 alleles. CONCLUSIONS: Our results confirm that certain HLA-DRB1 alleles reported previously as susceptibility factors are strongly associated with JIA in a Hungarian population. However, C1858T polymorphism of PTPN22, another candidate gene of autoimmunity seems to be independent of JIA in Hungarian patients. Our data taken together with various findings in different populations suggest that associations related to PTPN22 seem to be more ethnicity-specific in contrast to the general and less population-dependent role of HLA-DRB1 in JIA.
Subject(s)
Arthritis, Juvenile/ethnology , Arthritis, Juvenile/genetics , HLA-DR Antigens/genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics , Adolescent , Case-Control Studies , Child , Child, Preschool , Female , Gene Frequency , Genetic Predisposition to Disease/ethnology , Genotype , HLA-DRB1 Chains , Humans , Hungary/epidemiology , Infant , Male , Polymorphism, Single Nucleotide , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
Aseptic loosening is the most common problem of hip arthroplasties, limiting its long term success. We report a study of pulsed electromagnetic field (PEMF) treatment in 24 patients with this complication. At the end of treatment, six months and one year later, pain and hip movements improved significantly with the exception of flexion and extension. There was significant improvement in both isotope scans and ultrasonography, but not in plain X-ray. The decreased pain and improved function suggest that PEMF is effective in improving symptoms of patients with loose hip replacement. No improvement, however, can be expected in patients with severe pain due to gross loosening.
Subject(s)
Electric Stimulation Therapy/methods , Electromagnetic Fields , Hip Prosthesis , Osteonecrosis/therapy , Prosthesis Failure , Adult , Aged , Bone and Bones/diagnostic imaging , Calcification, Physiologic , Female , Follow-Up Studies , Humans , Male , Middle Aged , Osteonecrosis/diagnostic imaging , Prospective Studies , Radionuclide Imaging , Range of Motion, Articular , Technetium Tc 99m Medronate/analogs & derivatives , UltrasonographyABSTRACT
Antiphospholipid antibodies predispose to venous and arterial thrombosis. The case of a sixteen-year-old boy with primary antiphospholipid syndrome is presented. Features of different organ involvement such as thrombosis of the inferior vena cava, pulmonary thromboembolism and cerebral involvement were present with thrombocytopenia and high titre of anticardiolipin in the patient's sera. On twelve-month follow-up while taking anticoagulant the patient was entirely free of symptomes though certain immunological findings showed slight positivity. However, considering the ARA criteria systhemic immunopathologic disorder could not have been proved. Other pathological conditions with anticardiolipin positivity were also excluded.
