Background and aims: Familial Mediterranean Fever (FMF) is an ethnically restricted genetic disease, found commonly among Mediterranean population, as well as Armenians, Turks, Arabs and Jews. The disease is caused by mutations in the MEFV gene, encoding the Pyrin protein. The aim of this study was to determine the mutation frequency in the clinically diagnosed FMF patients and the carrier rate among healthy first-degree relatives of patients from Iran. Methods: 59 patients (<17 years old) with clinical diagnosis of FMF in the absence of colchicine and 82 healthy family members, in three different ethnic groups were screened for the 5 most common MEFV mutations (M694V, M694I, M680I, V726A and E148Q). Results: The mean age of patients (27 females: 32 males) was 7.8 ΁ 3.23. Fever (94.9%) and abdominal pain (77.9%) was the most common clinical finding. Allele frequencies were different among different ethnic groups of Iranian population (p ¼ 0.03). The most frequent mutation was M694V (29.6%) followed by M694I (8%), M680I (15%), V726A (16%) and E148Q (8%): homozygous (18.6%), compound heterozygous (52.5%) and simple heterozygous (16.9%). we could not detect any mutations in 16.95% of our patients. 9 (18%) healthy rel- atives were detected to have mutations of FMF. Conclusions: M694V was the most common MEFV mutation in various ethnic groups of Iranian patients.

Background: Lipid profile derangements in patients with early rheumatoid arthritis (RA) have been described. These may predispose to premature atherosclerosis and early car- diovascular events. However data from India is sparse. Objective: To evaluate the serum lipid profiles in patients of early RA, and assess the inter- relationship between serum lipid profile, endothelial dysfunction, disease activity and inflammatory markers. Materials and Methods: 50 patients of early RA and 50 age and sex matched healthy controls were included in the study. Fasting lipid profiles and brachial artery flow mediated vaso- dilatation (FMV%) were estimated, along with other disease activity parameters in the RA group. Result: Early RA patients showed an atherogenic lipid profile characterized by an increase in the Total Cholesterol (TC) (180.12 ± 16.50 versus 141.30 ± 9.57; p value < 0.0001) and Low Density Lipoprotein-Cholesterol (LDL-C) (126.82 ± 17.49 versus 79.36 ± 10.04; p value < 0.0001) and a reduction in the High Density Lipoprotein-Cholesterol (HDL-C) (37.92 ± 3.85 versus 44.42 ± 4.38; p value < 0.0001) as compared with their age and sex matched healthy controls. Mean FMV% in early RA patients (3.87 ± 1.70) was less than the controls (8.7 ± 1.58). Patients of early RA showed an atherogenic lipid profile with high atherogenic ratios of TC/HDL and LDL/HDL thus suggesting that these patients are at higher risk of developing atherosclerosis. There was significant correlation between lipo- protein levels, disease activity, endothelial dysfunction and inflammation. Conclusion: Patients of early rheumatoid arthritis have an atherogenic lipid profile and impaired FMV%, which correlates with disease activity and inflammation.

Ankylosing Spondylitis (AS) is an inflammatory arthritis that affects the spine resulting in significant deterioration in quality of life of patients as well as accounts for significant socio-economic burden. The etiology of AS is unresolved but appears to involve both environmental and genetic factors. HLA-B27 is the strongest associated gene in AS. Recent Genome Wide Association Studies (GWAS) have implicated several other genes associated with AS thus affirming the complex, oligogenic nature of the disease. Interestingly the Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) gene has the second strongest associ- ation with AS but this association is true only in HLA-B27 positive individuals. As a result there exists a strong possibility that the functional interaction of HLA-B27 and ERAP1 is pathogenic in AS. In this review we preview the biology of HLA-B27 and ERAP1 followed by a discussion of the three main hypotheses of HLA-B27 and ERAP1 interaction in the pathogenesis of AS, namely: the arthritogenic peptide, cell surface homodimer and the unfolded protein response theories of AS pathogenesis. Additionally this review seeks to provide an update on recent advances in the exciting quest to establish the role of HLA-B27 and ERAP1 in the pathogenesis of AS.

Medical education in India is at an important crossroad; we can either continue along the same road which has not led us to a desirable place or we can turn along a path to a more contemporary, and relevant location. This article is a reflection on the background, the current issues and possible future course as I see it.

This first in the series on clinical research will focus on the basics of data e the types of data (with examples of a rheumatoid arthritis study) and how to numerically and graph- ically represent these. Knowing the types of data is indeed the first step to planning a study as it leads to a proper planning, entering of data and finally suitable analysis.