Objective To explore the clinical characteristics of relapsing polychondritis(RP)patients presented with arthropathy. Methods We retrospectively analyzed the clinical data of 201 RP patients who were hospitalized in our center between December 2005 and February 2019.After 16 patients with co-existing other autoimmune diseases and malignancies were ruled out,185 RP patients entered the final analysis,among whom 16 RP patients were presented with arthropathy and 169 without arthropathy.The demographic data,clinical manifestations,laboratory findings,and prognosis were compared between these two groups. Results Five of the 16 RP patients with arthropathy at presentation were misdiagnosed as rheumatoid arthritis.Compared with RP patients without arthropathy at presentation,RP patients with arthropathy at presentation had a longer disease course[(37.50±66.50)months
Arthritis, Rheumatoid ; Delayed Diagnosis ; Diagnostic Errors ; Humans ; Joint Diseases/diagnosis* ; Polychondritis, Relapsing/diagnosis* ; Prognosis ; Retrospective Studies

BACKGROUND: Buttock pain is common, and there are no fixed guidelines for its diagnosis and treatment. This study compared a selective nerve root block and a facet joint block for patients with degenerative spinal disease and buttock pain. METHODS: Patients with degenerative spinal disease who presented with buttock pain, received a selective nerve root block (group A) or a facet joint block (group B) from June 2017 to September 2017, and were able to be followed up for more than 3 months were prospectively enrolled. Clinical results were assessed using a visual analog scale for comparative analysis. RESULTS: One day after the procedure, an excellent response was found in 7% and 6% of groups A and B, respectively; a good response was found in 41% and 13% of groups A and B, respectively. Two weeks later, an excellent response was found in 11% and 4% of groups A and B, respectively; a good response was found in 41% and 20% of groups A and B, respectively. Six weeks later, an excellent response was found in 11% and 7% of groups A and B, respectively, and a good response was found in 41% and 20% of groups A and B, respectively. At the final follow-up, more than 47% and 46% of patients showed a good response in groups A and B, respectively. In group A, the visual analog scale score improved compared to the pre-procedure value of 5.01 to 2.74 on day 1, 2.51 at week 2, 2.38 at week 6, and 2.39 at week 12. In group B, the visual analog scale score improved compared to the preprocedure value of 5.24 to 3.94 on day 1, 3.99 at week 2, 3.24 at week 6, and 2.59 at week 12. On day 1 and at weeks 2 and 6, group A showed a significantly better outcome than group B (p < 0.05). CONCLUSIONS: The selective nerve root block showed superior results up to 6 weeks post-procedure. Considering that the selective nerve root block is effective for treating radiculopathy, the primary cause of buttock pain can be thought to be radiculopathy rather than degenerative changes of the facet joint.
Buttocks ; Diagnosis ; Follow-Up Studies ; Humans ; Nerve Block ; Pain, Referred ; Prospective Studies ; Radiculopathy ; Spinal Diseases ; Spinal Stenosis ; Visual Analog Scale ; Zygapophyseal Joint

Almost 50% of patients with inflammatory bowel disease (IBD) exhibit at least one extra-intestinal manifestation in their lifetime. Extra-intestinal manifestations of IBD are often associated with the intestinal disease activity, reducing the quality of life of the patient but rarely leading to fatal complications. Musculoskeletal involvement is the most frequent extra-intestinal manifestation of patients with IBD but this rarely occurs before IBD is diagnosed. They are manifested in various forms, such as arthropathy, fibromyalgia, and osteoporosis. Therefore, a multidisciplinary team approach including gastroenterologists and rheumatologists are necessary for optimal treatment. This review focuses on the diagnosis and treatment of musculoskeletal manifestations of IBD from the perspectives of rheumatologists who can assist gastroenterologists.
Diagnosis ; Fibromyalgia ; Humans ; Inflammatory Bowel Diseases ; Intestinal Diseases ; Joint Diseases ; Musculoskeletal Diseases ; Osteoporosis ; Quality of Life

BACKGROUND: Osteoarthritis (OA) is a highly prevalent degenerative joint disease involving joint cartilage and its surrounding tissues. OA is the leading cause of pain and disability worldwide. At present, there are no disease-modifying OA drugs, and the primary therapies include exercise and nonsteroidal anti-inflammatory drugs until total joint replacement at the end-stage of the disease. METHODS: In this review, we summarized the current state of knowledge in genetic and epigenetic associations and risk factors for OA and their potential diagnostic and therapeutic applications. RESULTS: Genome-wide association studies and analysis of epigenetic modifications (such as miRNA expression, DNA methylation and histone modifications) conducted across various populations support the notion that there is a genetic basis for certain subsets of OA pathogenesis. CONCLUSION: With recent advances in the development of genome editing technologies such as the CRISPR-Cas9 system, these genetic and epigenetic alternations in OA can be used as platforms from which potential biomarkers for the diagnosis, prognosis, drug response, and development of potential personalized therapeutic targets for OA can be approached. Furthermore, genome editing has allowed the development of “designer” cells, whereby the receptors, gene regulatory networks, or transgenes can be modified as a basis for new cell-based therapies.
Biomarkers ; Cartilage ; Diagnosis ; DNA Methylation ; Epigenomics ; Gene Regulatory Networks ; Genetics ; Genome ; Genome-Wide Association Study ; Histones ; Humans ; Joint Diseases ; Joints ; MicroRNAs ; Osteoarthritis ; Precision Medicine ; Prognosis ; Risk Factors ; Transgenes

Almost 50% of patients with inflammatory bowel disease (IBD) exhibit at least one extra-intestinal manifestation in their lifetime. Extra-intestinal manifestations of IBD are often associated with the intestinal disease activity, reducing the quality of life of the patient but rarely leading to fatal complications. Musculoskeletal involvement is the most frequent extra-intestinal manifestation of patients with IBD but this rarely occurs before IBD is diagnosed. They are manifested in various forms, such as arthropathy, fibromyalgia, and osteoporosis. Therefore, a multidisciplinary team approach including gastroenterologists and rheumatologists are necessary for optimal treatment. This review focuses on the diagnosis and treatment of musculoskeletal manifestations of IBD from the perspectives of rheumatologists who can assist gastroenterologists.
Diagnosis ; Fibromyalgia ; Humans ; Inflammatory Bowel Diseases ; Intestinal Diseases ; Joint Diseases ; Musculoskeletal Diseases ; Osteoporosis ; Quality of Life

BACKGROUND: Calcium pyrophosphate dihydrate deposition disease (CPDD) is a rare disease in the temporomandibular joint (TMJ) space. It forms a calcified crystal mass and induces a limitation of joint movement. CASE PRESENTATION: The calcified mass in our case was occupied in the left TMJ area and extended to the infratemporal and middle cranial fossa. For a complete excision of this mass, we performed a vertical ramus osteotomy and resected the mass around the mandibular condyle. The calcified mass in the infratemporal fossa was carefully excised, and the segmented mandible was anatomically repositioned. Scanning electronic microscopy (SEM)/energy-dispersive X-ray spectroscopy (EDS) microanalysis was performed to evaluate the calcified mass. The result of SEM/EDS showed that the crystal mass was completely composed of calcium pyrophosphate dihydrate. This result strongly suggested that the calcified mass was CPDD in the TMJ area. CONCLUSIONS: CPDD in the TMJ is a rare disease and is difficult to differentially diagnose from other neoplasms. A histological examination and quantitative microanalysis are required to confirm the diagnosis. In our patient, CPDD in the TMJ was successfully removed via the extracorporeal approach. SEM/EDS microanalysis was used for the differential diagnosis.
Calcium Pyrophosphate ; Calcium ; Chondrocalcinosis ; Cranial Fossa, Middle ; Diagnosis ; Diagnosis, Differential ; Humans ; Joints ; Mandible ; Mandibular Condyle ; Microscopy ; Osteotomy ; Rare Diseases ; Spectrum Analysis ; Temporomandibular Joint

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease characterized by generalized elongation and tortuosity of the medium- to large-sized arteries, and other systemic connective tissue manifestations. To date, this disease entity has not been reported in Korea. We report a case of ATS diagnosed in a neonate who presented with severe elongation and tortuosity of the aorta and its major branches, as well as the intracranial arteries. Additionally, the patient presented with a tortuous dilatation of the inferior vena cava, an aneurysmal dilatation of the extra-hepatic bile ducts, and an inguinal and sliding hiatal hernia. The diagnosis was confirmed using DNA sequencing analysis, and the patient demonstrated a compound heterozygosity for two novel mutations (c.738delG [p.Gln247Serfs*33] and c.362T>C [p.Ile121Thr]) in exon 2 of the SLC2A10 gene. Genetic analysis also confirmed that both parents were heterozygous carriers of the responsible mutations. Owing to such clinical manifestations, ATS is often misdiagnosed as other connective tissue diseases including Loeys-Dietz syndrome, Marfan syndrome, and Ehlers-Danlos syndrome. In patients presenting with a high index of suspicion, thorough clinical evaluation and screening for ATS including computed tomography or magnetic resonance angiography and target gene analysis are necessary for early diagnosis and management.
Aneurysm ; Aorta ; Aortic Aneurysm ; Arteries ; Bile Ducts ; Connective Tissue ; Connective Tissue Diseases ; Diagnosis ; Dilatation ; Early Diagnosis ; Ehlers-Danlos Syndrome ; Exons ; Hernia, Hiatal ; Humans ; Infant, Newborn ; Joint Instability ; Korea ; Loeys-Dietz Syndrome ; Magnetic Resonance Angiography ; Marfan Syndrome ; Mass Screening ; Parents ; Sequence Analysis, DNA ; Vascular Malformations ; Vena Cava, Inferior

Arthroscopy has become an attractive modality in the diagnosis and treatment of joint diseases in toy breed dogs. However, the application of arthroscopy is limited by small joint space. Our objective was to evaluate the efficacy of a stifle lever for joint distraction during stifle arthroscopy in toy breed dogs. Paired stifles (n = 32 each) collected from 16 cadavers of toy breed dogs were randomly assigned to one of two groups: the stifle lever group or the external manipulation group. All stifles underwent arthroscopic cranial cruciate ligament transection, and the visualization of the medial meniscus was evaluated. Medial meniscal release (MMR) was then performed. Following arthroscopic examination, the success rates of MMR and damages of tibial and femoral cartilages were evaluated. Visualization of the medial meniscus was significantly better, and meniscal probing was significantly easier, in the stifle lever group than in the external manipulation group (p = 0.001). There were no significant differences between groups for MMR success or articular cartilage damage. Using the stifle lever on arthroscopic examination improved visualization and probing on the medial meniscus in toy breed dogs. The stifle lever can be used as a good modality in assessing medial meniscal pathology in toy breed dogs.
Animals ; Anterior Cruciate Ligament ; Arthroscopy ; Cadaver ; Cartilage ; Cartilage, Articular ; Diagnosis ; Dogs ; Joint Diseases ; Joints ; Menisci, Tibial ; Pathology ; Play and Playthings ; Stifle

In this study, we reported a case of progressive pseudorheumatoid dysplasia in Peking University Third Hospital. A 56-year-old male patient presented with hip joint pain for more than 40 years and multiple joints pain with limitation of movements of these joints for 28 years. This patient suffered from joint pain and impaired range of motion of the hip, knee, elbow and shoulder gradually, associated with difficulty in walking and inability to take care of himself. He was diagnosed with "femoral head necrosis" or "ankylosing spondylitis" in local hospitals, but the treatment of nonsteroidal antiinflammatory drugs (NSAIDs) and sulfasalazine was not effective. Up to the age of 14, the patient displayed normal physical development, with the highest height was about 158 cm, according to the patient recall. However, his height was 153 cm at present. There was no history of similar illness in any family member. Physical examinations descried limitation of movement of almost all joints. Enlargement and flexion deformity of the proximal interphalangeal (PIP) joints of the hands resulted in the claw hand appearance. Limited abduction and internal and external rotation of the shoulder and hip could be find. He had normal laboratory findings for blood routine test, biochemical indexes and acute phase reactants such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Furthermore, HLA-B27 and autoimmune antibodies such as rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP) antibody and antinuclear antibody (ANA) were all negative. X-ray of the hip showed loss of the joint space and irregularities of the femoral head, both femoral head were flattened, it could be see hyperplasia, osteophytes, bilateral femoral neck thicken, neck dry angle turned smaller. The radiological findings of the spinal vertebra indicated kyphosis deformity, narrowing of the intervertebral discs, vertebral syndesmophytes and flattening of the vertebra. However, there was no clues of bone marrow edema in the lumbar MRI. At last, genetic testing for the Wnt1-inducible signaling pathway protein 3 (WISP3) gene was done and indicated compound heterozygous mutations: 756C>G and c.866dupA. These two mutations were derived from the patient's mother and father (the patient's parents each had a heterozygous mutation). Two exons of the WISP3 gene had nucleotide changes leading to amino acid mutations. According to the patient's history, symptoms, physical examinations, radiological findings and genetic testing, the final definitive diagnosis was progressive pseudorheumatic dysplasia.
Cerebral Palsy ; Heterozygote ; Hip/pathology* ; Humans ; Joint Diseases/etiology* ; Male ; Microcephaly ; Middle Aged ; Spondylitis, Ankylosing/diagnosis*

Arthritis damages the cartilage within joints, resulting in degenerative changes, including loss of function and joint instability. Ankylosing spondylitis (AS) is a chronic inflammatory condition affecting the spine and bone-to-tendon attachment area within the sacroiliac joint leading to back pain and progressive spinal stiffness. In the final stages, AS causes hyperkyphosis-a condition closely tied to the human leukocyte antigen-B27 gene. Rheumatoid arthritis is a chronic, systemic autoimmune disease characterized by the simultaneous inflammation of the synovium of multiple joints, leading to joint damage (e.g., destruction, deformation and disability). In the past, nonsteroidal anti-inflammatory drugs or conventional disease-modifying antirheumatic drug (DMARDs) have been used for the treatment of these autoimmune diseases, but biologic DMARDs have recently been introduced with excellent results. Gout is a chronic inflammatory disease that causes an alteration of joints resulting in severe pain. Specifically, gout is associated with an accumulation of uric acid within the body resulting from dysregulated purine metabolism, causing recurrent paroxysmal inflammation in the joints. Allopurinol and febuxostat are the primary treatment options for individuals with gout. It is necessary to have an accurate understanding of the pathogenesis, pathological ecology and treatment of AS, rheumatoid arthritis, and gouty arthritis, which are the representative diseases that may cause inflammatory arthritis.
Allopurinol ; Antirheumatic Agents ; Arthritis ; Arthritis, Gouty ; Arthritis, Reactive ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Back Pain ; Cartilage ; Diagnosis* ; Ecology ; Febuxostat ; Gout ; Humans ; Inflammation ; Joint Diseases* ; Joint Instability ; Joints* ; Leukocytes ; Metabolism ; Sacroiliac Joint ; Spine ; Spondylitis, Ankylosing ; Synovial Membrane ; Uric Acid