Genetic analysis of rheumatic fever among Egyptian families: consanguinity pattern, segregation analysis and blood group association

To assess genetic background of Rheumatic Fever [RF] among Egyptian families and to test for association to blood group allelic phenotypes. This study was done on 30 Egyptian rheumatic families of which 10 were mutiplex; enrolled from Pediatric Cardiology Clinic, Mansoura University Hospital. Subjects included 30 probands and 1142 relatives of different degrees; they were classified clinically into 46 cases with RF, 136 subjects with recurrent Upper Respiratory Infection [URTI] and/or arthralgia and the remainders were irrelevant. Diagnosis of RF was based on Jones criteria. Pedigree analysis with stress on consanguinity, positive family history of RF and definite recurrent URTI. Nine blood group systems were analyzed for probands including; ABO, Rh, MNS, Kell, Lutheran, Lewis, Kidd, Duffy, P1 and individual secretor status. In rheumatic families consanguinity and inbreeding were higher than control [53.3%, 0.015]. Segregation analysis suggested multifactorial inheritance for RF with mean heritability [30%] whereas recurrent URTI followed recessive inheritance. Some alleles and phenotypes were of higher incidence in probands compared to control; alleles se [non-secretor], D, Jka+ and phenotypes Lu [a-b-], Le [a-b-] and Fy [a-b-] were of higher frequency, whereas alleles Se [secretor], A, B, Kp a+, Lu b+, Le b+, Fy a+, Fy b+ and phenotypes Fy [a+ b+], Sese or SeSe [secretor] were less frequent. Based on the inherited susceptibility to respiratory infection, RF is a genetic disease with multifactorial inheritance. Blood group systems on chromosome 19 could mark hot spots for further linkage and gene mapping

Soluble adhesion molecules in juvenile idiopathic arthritis: relation to activity and clinical subtype

The present research aimed to evaluate serum Adhesion Molecules [AMs] in patients with Juvenile Idiopathic Arthritis [JIA] to correlate their values with disease activity in different clinical subtypes. Serum levels of some soluble AMs [E-selectin, sICAM 1 and sVCAM 1] wereassayed by ELISA in 37 patients with JIA both during activity and after remission. Other activity parameters like sedimentation rate and leukocytic counts were tested as well. Twentyhealthy children of matched age and sex were taken as control. Serum E-selectin was found significantly higher in JIA compared to control [in all subtypes across all disease stages], with significant drop after remission, yet not reached the normal values. These changes were more evident in systemic JIA compared to other subtypes. Serum ICAM 1 and VCAM 1 showed the same changes in relation to control and to the disease activity. We can conclude that systemic JIA is associated with higher levels of soluble AMs thus explaining the perpetual inflammatory process and hence the remissions and exacerbations which are usually associated with higher morbidity in systemic JIA than in the other subtypes. We recommend following JIA patients until laboratory remission [normalization of serum AMs] to correlate AMs levels to clinical course aiming to put forward a therapeutic plan