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Introduction: Ten to 15% of patients with sarcoidosis have associated arthritis. Chronic arthritis is fairly uncommon. There is a paucity of data on articular manifestations of the disease from India. Methods: Case records of adult patients with sarcoidosis presenting to 11 rheumatology centers from 2005 to 2017 were retrospectively reviewed. Joint involvement was assessed clinically, classified as acute or chronic depending on duration of symptoms less or greater than 6 months, respectively. Results: A total of 117 patients with sarcoid arthritis were reviewed. Forty‐five patients were classified as having Lofgren's syndrome. The pattern of joint involvement revealed the ankle to be most commonly affected in both the groups. Shoulder, wrist, metacarpophalangeal, proximal interphalangeal joints of hands and knee joint involvement were significantly more common in chronic sarcoid arthritis. Peripheral lymphadenopathy and uveitis were significantly more frequent in chronic sarcoid arthritis. Forty out of 49 patients with acute arthritis followed up over a median of 1.8 years had achieved complete remission. Twelve out of 16 chronic sarcoid arthritis (median follow up 2.5 years) had achieved complete remission with 15, 12 and five patients on steroids, methotrexate and hydroxychloroquine, respectively. One patient with acute sarcoid arthritis with concomitant interstitial lung disease had died due to lung infection. Conclusion: Acute oligoarthritis was the commonest presentation with the ankle being the most commonly affected joint. Upper limb joint (predominantly distal) and knee involvement were more common as reported in our largest series worldwide of chronic sarcoid arthritis in adults. Hilar adenopathy and erythema nodosum were common extra‐articular features in both acute and chronic sarcoid arthritis. A limitation of the study was the retrospective nature of the analysis. [ABSTRACT FROM AUTHOR]

Abstract: Introduction: Rheumatoid arthritis (RA) is a clinically heterogeneous chronic inflammatory disorder characterized by synovitis leading to joint destruction. Both genetic and environmental factors are involved in the pathogenesis of RA. Significant dysregulation of NKG2D, an activating receptor of natural killer and certain autoreactive T cells as well as its ligand major histocompatibility complex class I chain–related gene A (MICA) has been implicated in perpetuating the pathology of RA. Since the genetic polymorphism in MICA gene (MICA‐129 met/val polymorphism at codon 129) is known to affect its binding affinity to NKG2D, we explored its influence on RA susceptibility and disease severity. Methods: The MICA‐129 met/val polymorphism was examined in 270 patients with RA and 232 healthy controls by TaqMan 5′‐nuclease assay. Serum soluble MICA (sMICA) was measured in a subset of 89 patients and 80 controls by enzyme‐linked immunosorbent assay. Results: We observed that the frequency of MICA‐129 val allele (73% vs. 65%, Pc = 0.006, odds ratio = 1.48, 95% CI = 1.12–1.95) was higher in patients than in controls. sMICA levels were significantly higher in patients with RA than in controls (P < 0.0001). sMICA levels were higher in patients with val/val genotype than in those with met/val or met/met genotype (P = 0.03). The MICA‐129 val/val genotype was associated with high titers of sMICA in patients with deforming RA phenotype (P = 0.02), suggesting a role in determination of severity of RA. Conclusion: MICA‐129 val/val genotype, associated with higher levels of circulating sMICA, may influence disease susceptibility and associate with increased severity of RA in south Indian Tamils. [ABSTRACT FROM AUTHOR]

The association of malignancy with autoimmune rheumatic diseases has been a subject of investigation. It has been shown that there is increased risk of malignancies, mainly non-Hodgkin lymphoma, in patients with autoimmune disorders. There is scarcity of data about malignancy in juvenile idiopathic arthritis ( JIA). We report the occurrence of anaplastic large cell lymphoma in a patient with systemic onset juvenile idiopathic arthritis treated with low dose methotrexate ( MTX). A relationship between MTX treatment and the occurrence of lymphoma in autoimmune diseases has been suggested. The hypothesis that MTX has a role in the aetiology of lymphoproliferative disorders is supported by the observation of spontaneous remission of lymphoma in few cases on cessation of MTX therapy. However, systemic onset juvenile idiopathic arthritis patients receiving MTX must be periodically examined for the development of lymphoproliferative disorder especially if the disease is difficult to control or patient develop new symptoms on therapy. [ABSTRACT FROM AUTHOR]

The article presents a case study of a sex-year-old Indian male child whose parents was first cousins, was presented with a history of pigmentation of the skin. It states that the patient was diagnosed with insulin-dependent diabetes mellitus and genetic analysis revealed the novel homozygous missense mutation pArg134Cys in the SLC29A3 gene that encodes the human equilibrative nucleoside transporter 3 (hENT3). It mentions that the patient was suffering with H syndrome.

Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder characterized by extreme insulin resistance and certain characteristic phenotypic features. The primary defect lies in the insulin receptor and involves biallelic mutations that lead to a loss of function through various postulated defects. We present a 9-year-old female patient with RMS complicated by multiple cerebral infarcts, in whom genetic analysis revealed a novel insulin receptor mutation. [ABSTRACT FROM AUTHOR]