Fayaz Sofi

Rheumatoid arthritis and genetic variations in cytokine genes: a population-based study in Kashmir Valley

Objective: The aim of our study was to determine the genetic associations between polymorphisms of the IL1β gene (−511C/T and +3953C/T) and IL6 gene (−174G/C) with disease susceptibility and severity in patients with rheumatoid arthritis (RA) in ethnic Kashmiri population. Methods: Allele and genotype frequencies of IL1β −511 C/T, IL1β +3953 C/T and IL6 −174 G/C polymorphisms were compared between 150 RA patients and 200 healthy controls by using PCR-RFLP method. Results: We did not find any significant association between IL1b +3953 C/T and IL6 −174 G/C polymorphism and Rheumatoid Arthritis risk (p > 0.05), but IL1β +3953 CT genotype was associated significantly with increased SJC and ESR and IL6 −174 GG genotype was associated significantly with increased ESR. However IL1b −511C/T polymorphism was significantly associated with rheumatoid arthritis risk and the carriers of IL1β −511 ‘C’ allele (CC and TC genotypes) appeared to have lower risk for RA development. Conclusion: Our findings suggest that the IL1b −511 ‘C’ allele has a protective role from disease development. Furthermore our results suggest a possible role of IL1b +3953 CT and IL6 −174 GG genotypes as disease activity markers of rheumatoid arthritis.

Nontraumatic massive right-sided Bochdalek hernia in an adult:

Diaphragmatic hernias in adults usually pose a diagnostic challenge; the presentations are varied and range from acute abdominal pain with features of gut obstruction, pleuritic chest pain, breathlessness, to a pregnant woman with pain abdomen. The usual cause in adults is posttraumatic. Because of varied presentations, the diagnosis is often delayed. We present a case of a young woman who presented with sudden-onset breathlessness with similar episodes in the past and no history of trauma, who proved to be having a right-sided diaphragmatic hernia. This case is reported not only because of rarity of nontraumatic right-sided Bochdalek hernias in adults, but also because of peculiar presentation and history.

Aerococcus viridans infection presenting as cutaneous vasculitis in an immunocompetent patient

Background Aerococcus viridans organisms are Gram-positive cocci that are widely distributed in hospital environments and room air. These bacteria have infrequently been encountered as human pathogens causing bacteremia, endocarditis and urinary tract infections. The significance of these bacteria may be overlooked due to their fastidious growth, and they are often confused with other strains of streptococci or staphylococci. Case report We present a case of Aerococcus viridans manifesting as cutaneous vasculitis in an immunocompetent patient. A 30-year-old female patient was admitted to hospital after two weeks history of fever, chills and papular rash over the limbs and trunk. The clinical diagnosis of vasculitis was made. Investigations revealed elevated leucocytosis (21.7 × 109/l) with 81% of neutrophils, and an elevated erythrocyte sedimentation rate or 60 mm/h. Serum anti-neutrophil cytoplasmic antibodies (ANCAs) were not found. Blood culture showed growth of Aerococcus viridans. Histopathological assessment of skin biopsy revealed cutaneous vasculitis. Conclusions To date, no clinical case report of this kind has been reported implicating Aerococcus viridans in cutaneous vasculitis. Increased awareness and more studies of this genus should lead to the identification of its potential role in human infections.

The association between TNFα gene polymorphisms and susceptibility to rheumatoid arthritis in an ethnic Kashmiri population: relationship with disease activity and severity markers

The aim of our study was to determine the genetic associations between polymorphisms of the TNFα gene (‐308G/A and ‐238G/A) with disease susceptibility and severity in patients with rheumatoid arthritis (RA) in an ethnic Kashmiri population.

Lamotrigine-induced toxic epidermal necrolysis in a young epileptic

A 20-year-old young female presented with extensive skin rashes with bullae and extensive epidermal necrolysis about 20 days after the addition of lamotrigine (LTG) to her anticonvulsant medication. The patient was managed by stopping LTG and supportive treatment. The seizures were controlled with increase in the doses of carbamazepine. The report emphasises exercising of caution once LTG is added to a regimen containing valproic acid.

Efficacy of Intra-Articular Steroid Injection in Osteoarthritis Patients

Introduction: Osteoarthritis (OA) is a clinical syndrome of joint pain accompanied by varying degrees of functional limitation and reduced quality of life due to chronic degenerative arthropathy. It is most common form of arthritis and one of the leading causes of pain and disability worldwide in population above 50 years. Material and Methods: 162 patients of symptomatic osteoarthritis were given intra articular triamcinolone acetonide injections over a period of 5 years at SKIMS Soura Srinagar J&K. Results: Among the patients 107 (66%) were females and 55 (34%) were males. Knee joint was most common involved joint. 15 patients had to receive repeated intraarticular steroid injection. Conclusion: Intra articular triamcinolone injection revealed good efficacy for pain relief and functional outcome without adverse effects.

Psoriasis with polymyositis; a rare combination of two autoimmune diseases

Psoriasis with polymyositis although both are autoimmune diseases, they have rarely been reported together. Psoriasis is a papulosquamous skin disease with erythematous papules or plaques and silvery scales. Polymyositis is an autoimmune disease with inflammatory myopathy affecting predominantly proximal muscles. We report a case of psoriasis with steroid resistant polymyositis. Key point Weather there is similar autoimmune process in the pathogenesis of polymyositis and psoriasis needs to be searched and identified. Citation: Sofi F, Parrey A, Ahmad M, Ahmad B. Psoriasis with polymyositis; a rare combination of two autoimmune diseases. Immunopathol Persa. 2018;4(1):e01.

Prevalence of MTX Intolerance in Rheumatoid Arthritis- A 3 Year Prospective Hospital Based Study

Background: Rheumatoid arthritis is most common inflammatory arthritis. Methotrexate is backbone of treatment regimens. Objective: To determine the prevalence of Methotrexate intolerance in rheumatoid arthritis. Material and Methods: 150 patients of RA including 120 females and 30 males attending rheumatology services of hospital from December 2012 to December 2015 were prescribed MTX as per approved protocol and were followed for Methotrexate Intolerance Severity Score (MISS). Results: Out of 150 patients of RA on methotrexate (MTX), 21 (14%) were found to have MISS ≥ 6. Conclusion: MISS is an important tool for application in RA to know Methotrexate intolerance and timely intervention to mitigate the same in order to prevent the incompliance of an otherwise very effective DMARD for RA.

Familial Behcet's Disease Involving Four Members in a Family - Maximum Numbers in a Family Published in Indian Literature till Date

There are very few reports of familial behcet’s from India. We report here familial Behcet’s disease from India in two brothers, one sister, and their father. They had recurrent orogenital ulcers. Pathergy test was positive in all .This is the maximum no of members involved in a family published from India.

Qualitative D-Dimer in deep vein thrombosis: A single center prospective study from Kashmir India

Objective: The aim of our study was to study the significance of qualitative D-dimer in the diagnosis of deep vein thrombosis. Study Design: Prospective analysis. Setting: Tertiary care hospital. Materials and Methods: One hundred and twenty nine patients of suspected deep vein thrombosis were included in the study and further categorized as likely or unlikely to have deep vein thrombosis on Wells scoring system. The patients in both the likely and unlikely categories were then randomly assigned to undergo D-dimer testing (D-dimer group) or to undergo ultrasound imaging alone (control group). The patients with pre text clinical probability score as unlikely and with negative D-dimer test were considered not to have DVT. The primary event was recurrent venous thromboembolism in both the groups during three months of follow-up. Results: A total of one hundred and twenty nine patients with suspected DVT were included in the study. Sixty five patients were randomly assigned to D-dimer group and sixty four to the doppler group. The diagnosis of DVT was established in 41 (31.78%) patients. Among patients in whom DVT was ruled out by the initial diagnostic evaluation one case of deep vein thrombosis was confirmed in the D-dimer group (1/55, 1.8%; 95% confidence interval, 1.6 to 5.2%) and two cases in the Doppler group (2/51, 3.92%; 95% confidence interval, 1.5 to 9.34%) during three months of follow-up. The use of D-dimer resulted in lesser number of USG (0.66 tests per person) in the D-dimer group as compared to (1.23 tests per person) in the Doppler group. Forty patients (31%) in the D-dimer group did not require ultrasound imaging. Conclusion: The diagnostic performance of qualitative D-dimer assay combined with a clinical pre text probability score can also rule out DVT safely in low probability scores without significantly compromising safety.