Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the <i>PRG4</i> gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. Herein, we report 3 patients with CACP syndrome from 2 unrelated families. All patients are female, born to consanguineous parents, and had camptodactyly since the first years of their lives. Two patients had a prior diagnosis of juvenile idiopathic arthritis. Hip changes were present in 2 patients, and 2 of 3 patients had undergone surgery for camptodactyly. Routine echocardiographic evaluations were normal during the 2-year follow-up. This paper represents the third study including CACP patients from Turkey. Clinically, all 3 patients resembled juvenile idiopathic arthritis cases and received unnecessary medication. There is also an ongoing need for improving awareness of CACP and an effective treatment focusing on the lubrication of the joint space in CACP patients.
Objectives: Lubricin, encoded by the proteoglycan 4 (PRG4) gene, is mainly responsible for lubricating joints. However, there is expanding evidence on its involvement in inflammatory pathways. Juvenile idiopathic arthritis (JIA) is a heterogeneous group of chronic arthritides with an unknown origin in children aged below 16 years. It is characterized by chronic joint inflammation, including synovial inflammation, and may result in cartilage destruction. We aimed to determine whether serum lubricin levels are affected in JIA patients. Material and methods: This cross-sectional study included children diagnosed with JIA and 28 healthy controls. The patients were divided into two groups according to the presence of remission at the time of study. Lubricin protein analysis was performed by the enzyme-linked immunosorbent assay method. Serum samples were obtained at the study enrollment, and lubricin levels were measured once, and compared between JIA patients and healthy controls, and between JIA patients with active disease and remission. Results: The study included 52 JIA patients (28 female, 24 male) and 28 healthy controls (18 female, 10 males). The mean age at study enrollment was 11.66 ±4.41 years and 12.72 ±4.52 years in the JIA patient and control groups, respectively. Although median serum lubricin level did not differ between JIA patients (median: 0.66 ng/μl, range: 0.02-3.85 ng/μl) and healthy controls (median: 0.52 ng/μl, range: 0.06-3.84 ng/μl), it was statistically significantly higher in patients with active disease (median: 1.58 ng/μ, range: 0.08-3.85 ng/μl) than both patients in remission (median: 0.57 ng/μl, range: 0.02-3.57 ng/μl) and healthy controls. A low degree positive correlation was also found between serum lubricin levels and erythroid sedimentation rate of the JIA patients (r = 0.383 and p = 0.011). Conclusions: This is the first study investigating serum lubricin levels in JIA patients, and we found elevated serum lubricin levels in JIA patients with active disease. Further studies are needed to clarify our results.
Type-1 diabetes mellitus is an insulin-dependent autoimmune disease, which is very common in the human populations regardless of gender. The aim of this study was to evaluate the effects of pulsed magnetic field (PMF), a non-invasive procedure, on male and female rats with type 1 diabetes, particularly on weight loss ratios, blood glucose levels and diabetic neuropathy. Before, the experimental groups were divided into three groups as control (C (F or M), diabetes (DM (F or M), controlled diabetes (DM(F)-INS or DM(M)-INS) groups according to their sex differences, then these experimental groups were exposed to magnetic field effect (PMF). The rats in the PMF groups were exposed to the pulsed magnetic field at 50 Hz (1.5 mT intensity) for 1h/5days/month. The body weights and blood glucose levels were measured once a week over a month. Female and male diabetic rats developing diabetic neuropathy were evaluated with thermal (thermal latency) and dynamic (mechanical threshold) plantar tests. After six-weeks of PMF treatment, the weight loss rate and increased blood glucose levels due to diabetes reversed in both female and male diabetic rats upon PMF treatment (p less than 0.05). In diabetic neuropathic female and male rats, the thermal latency values increased, while the mechanical threshold values decreased. The reduction in diabetic neuropathic rats were statistically significant in diabetic rats (p less than 0.05). The increased or decreased mechanical threshold and thermal latency values in diabetic neuropathic rats were statistically significant in only male diabetic rats (p less than 0.05). Our studies may imply that the effect of PMF in neuropathic pain is gender dependent further inferring that hormonal mechanisms were also important in PMF dependent regulation.
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