The spondyloepiphyseal dysplasia tarda (SEDT) is a hereditary arthropathy that progressively leads to deformities of small and large joints, irregularities of the end plates of vertebral bodies, which causes joint restriction, short stature, and gait difficulties. The typical radiographic findings of SEDT are generalized platyspondyly and dysplasia of the epiphyses, resulting in premature arthrosis. Clinically SEDT is manifested as a form of short-trunk dwarfism and early arthrosis in the period from late childhood to adolescence. The major clinical importance of this rare disease is similarity to juvenile idiopathic arthritis (JIA), which has a rather different prognosis and treatment. A few cases of SEDT have been published. However, no cases have been reported in South Korea. We describe the case of a 29-year old man who suffered from back and multiple joint pain, who was misdiagnosed as having ankylosing spondylitis. We evaluated the patient clinically and radiographically in greater detail, and changed his diagnosis to SED tarda.
Adolescent ; Arthralgia ; Arthritis, Juvenile Rheumatoid ; Congenital Abnormalities ; Dwarfism ; Epiphyses ; Gait ; Humans ; Joints ; Osteochondrodysplasias ; Prognosis ; Rare Diseases ; Republic of Korea ; Spondylitis, Ankylosing

Eosinophilic fasciitis (EF) is a rare fibrosing disorder characterized by painful swelling and induration of the limbs and trunk, characteristic histology with sclerosis and lymphocytic inflammation affecting the fascia. The cause and pathogenesis of EF are still unknown and current therapies include glucocorticoids with or without use of immunosuppressive agents. Recently, there have been several case reports documenting the efficacy of a TNF alpha inEosinophilic fasciitis (EF) is a rare fibrosing disorder characterized by painful swelling and induration of the limbs and trunk, characteristic histology with sclerosis and lymphocytic inflammation affecting the fascia. The cause and pathogenesis of EF are still unknown and current therapies include glucocorticoids with or without use of immunosuppressive agents. Recently, there have been several case reports documenting the efficacy of a TNF alpha inhibitor in EF following a steroid-resistant disease course. However, there has been no report on the experience in treatment of EF with a TNF alpha inhibitor in Korea. Hence, we report a case of steroid and methotrexate-resistant EF which was successfully treated with adalimumab, along with a review of the relevant articles.
Antibodies, Monoclonal, Humanized ; Eosinophilia ; Eosinophils ; Extremities ; Fascia ; Fasciitis ; Glucocorticoids ; Immunosuppressive Agents ; Inflammation ; Korea ; Sclerosis ; Adalimumab

Infliximab, a chimeric monoclonal immunoglobulin antibody to tumor necrosis factor (TNF)-alpha is widely used in the treatment of rheumatoid arthritis (RA). The commonly reported cardiac side effects of infliximab include exacerbation of congestive heart failure, hypotension, and syncope. Cardiac arrhythmia and conduction disturbances have been reported only rarely in a few case reports and to the best of our knowledge, there are no previous reports on the occurrence of atrial fibrillation secondary to infliximab use in RA patients. Here, we report a case of acute atrial fibrillation with rapid ventricular response that occurred 24 hr after first dose of infliximab in a 55-year-old female patient with RA, who recovered to sinus rhythm after pharmacologic management.
Antibodies, Monoclonal ; Arrhythmias, Cardiac ; Arthritis, Rheumatoid ; Atrial Fibrillation ; Female ; Heart Failure ; Humans ; Hypotension ; Immunoglobulins ; Middle Aged ; Syncope ; Tumor Necrosis Factor-alpha ; Infliximab

A 58-year-old male patient with chronic hepatitis B infection and hypertension was referred for the evaluation of a skin rash. The skin biopsy showed multiple hyaline thrombi in small blood vessels, red blood cell extravasation, and epidermal atrophy. The CBC, chemistry, UA, and radiological studies were unremarkable except for elevated AST/ALT on liver function tests. The hepatitis B virus markers were compatible with the diagnosis of acute replicative phase chronic hepatitis B; HBeAg 86,646 cpm (count per minute), anti-HBeAb (-), HBV PCR (Quantitative) >1.10x108 IU/mL, and >640,200,000 copies/mL. Rouleaux formation was seen on the peripheral blood smears. Serum PEP/IEP demonstrated an M-spike (27.53%) in the gamma region and abnormal bowed arcs in IgG, kappa light chain with Cryoglobulin (+), ANCA (+), FANA (-), and rheumatoid factor (-) on the serological test. The percent of plasma cells on the bone marrow biopsy was approximately 15%. Type I cryoglobulinemia is a rare disease that can be associated with hematologic disorders, but smoldering myeloma or/and hepatitis B has not been reported in association with Type I cryoglobulinemia. Here, we report a case of Type I cryoglobulinemia that showed multiple skin ulcers due to vascular occlusion related to the monoclonal cryoglobulin with smoldering myeloma and acutely reactivated chronic hepatitis B.
Antibodies, Antineutrophil Cytoplasmic ; Atrophy ; Biopsy ; Blood Vessels ; Bone Marrow ; Cryoglobulinemia ; Erythrocytes ; Exanthema ; Hepatitis B ; Hepatitis B e Antigens ; Hepatitis B virus ; Hepatitis B, Chronic ; Hepatitis, Chronic ; Humans ; Hyalin ; Hypertension ; Immunoglobulin G ; Light ; Liver Function Tests ; Male ; Middle Aged ; Plasma Cells ; Polymerase Chain Reaction ; Rare Diseases ; Rheumatoid Factor ; Serologic Tests ; Skin ; Skin Ulcer

Henoch-Schonlein purpura (HSP) is a systemic vasculitis involving the skin, gut, joint and kidney that is characterized by immunoglobulin A (IgA)-dominant immune deposits in target organs. Gastrointestinal involvement is known to be relatively common, but acute pancreatitis and pulmonary involvement are rare in Henoch-Schonlein purpura. We experienced a case of a 46-year-old man who developed adult-onset HSP complicated by acute pancreatitis and interstitial pneumonitis. The patient received corticosteroid therapy at a dosage of 0.5 mg/kg. After corticosteroid therapy, patient's symptoms improved. We report here the first case of HSP complicated by acute pancreatitis and interstitial pneumonitis.
Humans ; Immunoglobulin A ; Joints ; Kidney ; Lung Diseases, Interstitial ; Middle Aged ; Pancreatitis ; Pneumonia ; Purpura, Schoenlein-Henoch ; Skin ; Systemic Vasculitis

Drug-induced lupus erythematosus is defined as a lupus-like syndrome related to continuous drug exposure which resolves after discontinuation of the offending drug. Here we report a case of a 70-year-old man who developed drug-induced lupus erythematosus after receiving angiotensin converting enzyme inhibitor medication for unstable angina pectoris, for 5 years. He was hospitalized with arthralgia, edema, and newly developed pleural effusion. The serum analysis revealed an elevated level of antinuclear antibody and antihistone antibody. After discontinuation of angiotensin converting enzyme inhibitor and receiving a course of prednisolone treatment, his symptoms and pleural effusion improved. To the best of our knowledge, this is, the first case report of angiotensin converting enzyme inhibitor-induced systemic lupus erythematosus in Korea.
Aged ; Angina, Unstable ; Angiotensins ; Antibodies, Antinuclear ; Arthralgia ; Edema ; Humans ; Korea ; Lupus Erythematosus, Systemic ; Peptidyl-Dipeptidase A ; Pleural Effusion ; Prednisolone

OBJECTIVE: We aimed to investigate whether persistence rates of Tumor necrosis factor (TNF) blockers in the early period was affected by the change in reimbursement guideline of Rheumatoid Arthritis (RA) using Korean National Health Insurance (NHI) claims database. METHODS: We identified patients with a diagnosis code of RA between January 2007 to December 2009 and who were 16 years of age or older, in a Korean NHI claims database. A subgroup RA patients who had recently started TNF blockers with 6 months of washout period in June 2007 (n=40), June 2008 (n=60), January 2009 (n=52) and June 2009 (n=68) were selected to compare the 6 months persistence rate. Also, we analyzed a change in prescriptions of TNF blockers in patients with RA for each 6 month period between 2007 and 2009. RESULTS: The persistence rates of TNF blockers during 6 months in each group was not statistically significant (67.5%, 75.0%, 73.1%, and 79.4%, p=0.22). However, when we compared the frequency of new patients started on TNF blockers in June 2009 to those in the same months in 2008 and 2007; there was a tendency to increase. During change in TNF blocker prescriptions between 2007 and 2009, the overall utilization of TNF blockers increased. CONCLUSION: The persistence rate of TNF blockers in the early period was not affected by change of reimbursement guidelines of RA. However, long-term design and multivariate analysis will be needed to identify the impact of change in reimbursement guideline on the persistence of TNF blockers.
Arthritis, Rheumatoid ; Humans ; Multivariate Analysis ; National Health Programs ; Prescriptions ; Tumor Necrosis Factor-alpha

OBJECTIVE: We aimed to investigate the frequency of rheumatic diseases within uveitis patients visiting the department of Ophthalmology and evaluated the clinical value of serological testing and ophthalmologic findings in patients with uveitis in a community-based practice in Korean population. METHODS: On a retrospective basis, we reviewed the medical records of patients with uveitis, who had been treated at the Department of Ophthalmology of Inje University Ilsan Paik Hospital between January 2005 and March 2010. All patients with uveitis were reviewed regarding their ocular histories and findings, rheumatologic medical histories and manifestations, and pelvis anteroposterial view of plain radiographies to identify the sacroilitis. In addition, we tested for rheumatoid factor, antinuclear antibody, and HLA-B27. RESULTS: A total of 107 patients with uveitis were included in the study. HLA-B27 associated uveitis was present in 64 patients (59.8%) the number of patients with sacroilitis on plain pelvis radiography was 38 patients (37.8%). Fifty-one patients (47.7%) were diagnosed as having systemic rheumatic diseases. The majority of these patients had anklylosing spondylitis (AS) (70.3%) and Bechet's disease (18.9%). The most common type of uveitis was anterior uveitis (90.7%), followed by panuveitis (3.7%) and posterior uveitis (3.7%). The recurrence rate and number of floating cells were greater in patients with rheumatic diseases than patients without rheumatic diseases. CONCLUSION: The majority of rheumatic disease related with uveitis were AS and Bechet's disease. HLA-B27 and pelvis plain radiography can be useful tools for screening the spondyloarthropathies with uveitis. Recurrent and severe uveitis might represent an accompanying rheumatic disease.
Antibodies, Antinuclear ; HLA-B27 Antigen ; Humans ; Mass Screening ; Medical Records ; Ophthalmology ; Panuveitis ; Pelvis ; Recurrence ; Retrospective Studies ; Rheumatic Diseases ; Rheumatoid Factor ; Sacroiliitis ; Serologic Tests ; Spondylarthropathies ; Spondylitis ; Uveitis ; Uveitis, Anterior ; Uveitis, Posterior

OBJECTIVE: The physiological and pathogenetic role of microRNAs (miRNAs) in the maintenance of joint homeostasis and in the development of arthritis is recently being elucidated. In this study, we attempted to identify differentially expressed miRNAs in human osteoarthritis (OA) chondrocytes in response to interleukin (IL)-1beta. In addition, simultaneous profiling of miRNA and mRNA expression was performed to get an integrated analysis of miRNA and mRNA expression. METHODS: Monolayer cultured chondrocytes obtained from knee cartilages of OA patients were stimulated with IL-1beta for 4 hours and RNA was isolated. One microgram of total RNA was polyadenylated and converted to cDNA and miRNA microarray was performed. Seven hundred thirty five oligos were used, corresponding to 470 well-annotated human miRNA sequences and 265 potential miRNAs that were identified recently. mRNA microarray was performed simultaneously using the RNA samples that were used for miRNA array. Both sequence and expression information was used to identify regulatory relationship between miRNA and mRNA pairs. RESULTS: Expression profiling of miRNA extracted from IL-1beta treated chondrocytes identified 25 miRNA which showed differential expression. We also identified 7190 mRNAs differentially regulated by IL-1beta treatment. Among the 25 miRNAs differentially regulated, 13 miRNAs had targets searched by MiRANDA scheme. By combining target search and miRNA-mRNA pairing, we could identify 1043 miRNA-mRNA target pairs. MiR-200a was found to be expressed in human OA and normal cartilages, with downregulation in OA lesion cartilages. CONCLUSION: It is suggested that miRNA may play a role in the regulation of cartilage degradation in OA.
Arthritis ; Cartilage ; Chondrocytes ; DNA, Complementary ; Down-Regulation ; Homeostasis ; Humans ; Interleukin-1 ; Interleukins ; Joints ; Knee ; MicroRNAs ; Osteoarthritis ; RNA ; RNA, Messenger

OBJECTIVE: MicroRNAs (miRNAs) play important roles in many biological processes and recent studies have provided growing evidences that miRNA dysregulation might play important roles in the pathogenesis of rheumatoid arthritis (RA). The aim of this study was to investigate the contribution of miRNAs to altered gene expressions in RA. METHODS: To investigate whether the differential expression of miRNA in RA could account for the altered expression of certain genes, we compared the different expressions of miRNAs and mRNAs in rheumatoid synovial fluid monocytes with that of normal peripheral blood (PB) monocytes by using a gene expression oligonucleotide microarray and a microRNA microarray. RESULTS: Comparative analysis of the mRNA profiles showed significant different expressions of 430 genes in RA synovial monocytes, of which 303 (70%) were upregulated and 127 (30%) were downregulated, as compared with that of normal PB monocytes. Out of differentially expressed 13 miRNAs, 9 miRNAs were upregulated and 4 miRNAs were downregulated in the RA synovial monocytes. A total of 62 genes were predicted as target genes of the 13 differentially expressed miRNAs in the RA synovial monocytes. Among the 62 miRNA-targeted genes, a few genes such as GSTM1, VIPR1, PADI4, CDA, IL21R, CCL5, IL7R, STAT4, HTRA1 and IL18BP have been reported to be associated with RA. CONCLUSION: In the present study, we observed that several miRNAs are differentially expressed in RA synovial monocytes, and we suggest that these different expressions of miRNAs may regulate the expression of several genes associated with the pathogenesis of RA.
Arthritis, Rheumatoid ; Biological Processes ; Gene Expression ; Genes, vif ; MicroRNAs ; Monocytes ; Oligonucleotide Array Sequence Analysis ; Receptors, Interleukin-21 ; RNA, Messenger ; Synovial Fluid