Ankylosing spondylitis (AS) is linked to an increased prevalence of myocardial infarction (MI). However, research dedicated to elucidating the pathogenesis of AS-MI is lacking. In this study, we explored the biomarkers for enhancing the diagnostic and therapeutic efficiency of AS-MI. Datasets were obtained from the Gene Expression Omnibus database. We employed weighted gene co-expression network analysis and machine learning models to screen hub genes. A receiver operating characteristic curve and a nomogram were designed to assess diagnostic accuracy. Gene set enrichment analysis was conducted to reveal the potential function of hub genes. Immune infiltration analysis indicated the correlation between hub genes and the immune landscape. Subsequently, we performed single-cell analysis to identify the expression and subcellular localization of hub genes. We further constructed a transcription factor (TF)-microRNA (miRNA) regulatory network. Finally, drug prediction and molecular docking were performed. S100A12 and MCEMP1 were identified as hub genes, which were correlated with immune-related biological processes. They exhibited high diagnostic value and were predominantly expressed in myeloid cells. Furthermore, 24 TFs and 9 miRNA were associated with these hub genes. Enzastaurin, meglitinide, and nifedipine were predicted as potential therapeutic agents. Our study indicates that S100A12 and MCEMP1 exhibit significant potential as biomarkers and therapeutic targets for AS-MI, offering novel insights into the underlying etiology of this condition.
Humans ; Spondylitis, Ankylosing/complications* ; Systems Biology/methods* ; Myocardial Infarction/diagnosis* ; Biomarkers/metabolism* ; MicroRNAs/genetics* ; Gene Regulatory Networks ; Gene Expression Profiling ; Machine Learning

Objective: To summarize the clinical, radiological characteristics, and prognosis of infectious sacroiliitis in children. Methods: A case-control study was conducted, including 12 cases of infectious sacroiliitis diagnosed in the Rheumatology and Immunology Department of the Children's Hospital affiliated with the Capital Institute of Pediatrics from June 2018 to June 2023. These cases comprised the case group. Concurrently, 28 cases of pediatric idiopathic arthritis involving the sacroiliac joint in the same department served as the control group. Basic patient information, clinical features, laboratory parameters, and clinical treatment outcomes for both groups were collected and analyzed. Independent sample t-tests and chi-squared tests were used for inter-group comparisons. Results: Among the 12 cases in the case group, there were 5 males and 7 females, with a disease duration of 0.8 (0.5, 1.2) months. Nine patients presented with fever, and 1 patient had limping gait. Human leukocyte antigen (HLA)-B27 positivity was observed in 1 case, and there was no family history of ankylosing spondylitis. In the control group of 28 cases, there were 19 males and 9 females, with a disease duration of 7.0 (3.0, 17.0) months. One patient (4%) had fever, and 14 cases (50%) exhibited limping gait. HLA-B27 positivity was found in 18 cases (64%), and 18 cases (64%) had a family history of ankylosing spondylitis. The case group had higher white blood cell count (WBC), neutrophil ratio, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) levels, as well as a higher proportion of unilateral involvement on magnetic resonance imaging and bone destruction on CT compared to the control group ((11.1±6.2)×10⁹ vs. (7.3±2.3)×10⁹/L, 0.64±0.10 vs. 0.55±0.12, 72 (34, 86) vs. 18 (5, 41) mm/1 h, 24.6 (10.1, 67.3) mg/L vs. 3.6 (0.8, 15.0) mg/L, 11/12 vs. 36% (10/28), 9/12 vs. 11% (3/28), t=2.90, 3.07, Z=-2.94, -3.28, χ²=10.55, 16.53, all P<0.05). Conclusions: Pediatric infectious sacroiliitis often presents as unilateral involvement with a short disease history. Elevated WBC, CRP, and ESR, as well as a high rate of bone destruction, are also common characteristics.
Male ; Female ; Humans ; Child ; Sacroiliitis/diagnostic imaging* ; Spondylitis, Ankylosing/diagnosis* ; Case-Control Studies ; Sacroiliac Joint/diagnostic imaging* ; Radiography ; Magnetic Resonance Imaging ; Fever

Humans ; Spondylitis, Ankylosing/diagnosis* ; Delayed Diagnosis ; East Asian People ; Asian People

OBJECTIVE: We attempted to discover that Ankylosing spondylitis (AS) has a comprehensive relationship with congestive heart failure and death.METHODS: We used a nationwide database managed by the Korean National Health Insurance Service from 2010 to 2014. Twelve thousand nine hundred eighty-eight patients with a diagnosis of AS and 64940 age- and sex- stratified matching subjects without AS were enrolled in the AS and control groups. Incidence probabilities of 6 years congestive heart failure and death in each group were calculated. The Cox proportional hazard regression analysis was used to estimate the hazard ratio. We divided the AS and control groups into subgroups according to sex, age, income, and comorbidities.RESULTS: During the follow-up period, 102 patients (0.79%) in the AS group and 201 patients (0.32%) in the control group developed congestive heart failure (p < ;0.0001). In addition, 211 (1.62%) subjects in the AS group died during the follow-up period compared to 639 (0.98%) subjects in the control group (p < ;0.0001). The adjusted hazard ratio of congestive heart failure and death in the AS group was 2.28 (95% confidence interval [CI], 1.80–2.89) and 1.66 (95% CI, 1.42–1.95), respectively. The hazard ratios of congestive heart failure and death were significantly increased in all of the subgroups.CONCLUSION: The incidence rates of congestive heart failure and death were increased in AS patients.
Cardiovascular Diseases ; Cohort Studies ; Comorbidity ; Diagnosis ; Epidemiology ; Estrogens, Conjugated (USP) ; Follow-Up Studies ; Heart Failure ; Humans ; Incidence ; Korea ; National Health Programs ; Spondylitis, Ankylosing

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.
Anemia, Sickle Cell ; Arthritis, Infectious ; Cleidocranial Dysplasia ; Diagnosis ; Gardner Syndrome ; Hyperparathyroidism ; Klippel-Feil Syndrome ; Marfan Syndrome ; Neurofibromatosis 1 ; Osteopetrosis ; Pentalogy of Cantrell ; Poland Syndrome ; Polychondritis, Relapsing ; Retrospective Studies ; Rickets ; Scleroderma, Systemic ; Spondylitis, Ankylosing ; Sternoclavicular Joint ; Thalassemia ; Thoracic Wall ; Tuberculosis

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*

BACKGROUNDPrevious studies showed that combining apparent diffusion coefficient (ADC) value with the Spondyloarthritis Research Consortium of Canada (SPARCC) index value might provide a reliable evaluation of the activity of ankylosing spondylitis (AS), and that contrast-enhanced (CE) magnetic resonance imaging (MRI) is unnecessary. However, the results were based on confirming only a small random sample. This study aimed to assess the role of CE-MRI in differentiating the disease activity of AS by comparing ADC value with a large sample.

METHODSA total of 115 patients with AS were enrolled in accordance with Bath AS Disease Activity Index and laboratory indices, and 115 patients were divided into two groups, including active group (n = 69) and inactive group (n = 46). SPARCC, ΔSI, and ADC values were obtained from the short tau inversion recovery (STIR), diffusion-weighted imaging (DWI), and CE-MRI, respectively. One-way analysis of variance and receiver operating characteristic analysis were performed for all parameters.

RESULTSThe optimal cutoff values (with sensitivity, specificity, respective area under the curve, positive likelihood ratio, and negative likelihood ratio) for the differentiation between active and inactive groups are as follows: SPARCC = 6 (72.06%, 82.61%, 0.836, 4.14, 0.34); ΔSI (%) = 153 (80.6%, 84.78%, 0.819, 5.3, 0.23); ADC value = 1.15 × 10-3 mm2/s (72.73%, 81.82%, 0.786, 4, 0.33). No statistical differences were found among the predictive values of SPARCC, ΔSI, and ADC. Multivariate analysis showed no significant difference between the combination of SPARCC and ADC values with and without ΔSI.

CONCLUSIONSUsing large sample, we concluded that the combination of STIR and DWI would play significant roles in assessing the disease activity, and CE-MRI sequence is not routinely used in imaging of AS to avoid renal fibrosis and aggravation of kidney disease.

Adolescent ; Adult ; Contrast Media ; Diagnosis, Differential ; Diffusion Magnetic Resonance Imaging ; methods ; Female ; Humans ; Image Enhancement ; methods ; Magnetic Resonance Imaging ; methods ; Male ; Middle Aged ; ROC Curve ; Sensitivity and Specificity ; Spondylitis, Ankylosing ; diagnostic imaging ; physiopathology ; Young Adult

STUDY DESIGN: Case report. OBJECTIVES: To report a case of progressive kyphotic deformity after spinal fusion in a patient with diffuse idiopathic skeletal hyperostosis (DISH). SUMMARY OF LITERATURE REVIEW: DISH is characterized by spinal and peripheral enthesopathy, and is a completely different disease from ankylosing spondylitis (AS). Though DISH can be associated with thoracic kyphosis, no reports have described a progressive thoracolumbar kyphotic deformity after spinal fusion surgery in a DISH patient. MATERIALS AND METHODS: A 47-year-old male presented with pain in the thoracolumbar region. After excluding the possibility of AS and confirming the diagnosis of DISH, we performed spinal fusion for the treatment of a T11-T12 flexion-distraction injury. The kyphotic deformity was found to be aggravated after the first operation, and we then performed corrective osteotomy and additional spinal fusion. Results: The kyphotic deformity of the patient was corrected after the second operation. RESULTS: The kyphotic deformity of the patient was corrected after the second operation. CONCLUSIONS: In DISH patients in whom AS must be excluded in the differential diagnosis, a kyphotic deformity can become aggravated despite spinal fusion surgery, so regular and continuous follow-up is required.
Congenital Abnormalities* ; Diagnosis ; Diagnosis, Differential ; Follow-Up Studies ; Humans ; Hyperostosis, Diffuse Idiopathic Skeletal* ; Kyphosis ; Male ; Middle Aged ; Osteotomy ; Rheumatic Diseases ; Spinal Fusion* ; Spondylitis, Ankylosing

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

Female ; Humans ; Hyperostosis ; diagnosis ; Middle Aged ; Sacroiliitis ; diagnosis ; Spondylitis ; diagnosis ; Spondylitis, Ankylosing ; diagnosis