Prevalence of autoimmune thyroiditis among children with autoimmune hepatitis.

BACKGROUND: Autoimmune hepatitis (AIH) is an organ specific autoimmune disease, which can manifest at any age of life. there is a high prevalence of extrahepatic autoimmune diseases in patients with AIH. Autoimmune thyroid diseases (ATDs) are the most frequent extrahepatic autoimmune disorders among patients with AIH. Aim of work is to detect the frequency of ATDs among Egyptian children with AIH. METHODS: This research is a cross-sectional study conducted on 58 children with AIH aged ≤ 18 years. All patients were tested for free triiodothyronine (FT3), free tetraiodothyronine (FT4), thyroid stimulating hormone (TSH), anti-thyroid peroxidase (anti-TPO) and antithyroglobulin (anti-TG). Thyroid ultrasound (US) and thyroid scan were performed for patients with abnormal thyroid profile, borderline values, positive anti-TPO or anti-TG. RESULTS: The mean ± standard deviation (SD) for the age of the patients was 11.3 ± 4.5 years. Out of 58 patients of AIH, 28 patients (48.3%) had associated other autoimmune diseases. Autoimmune thyroiditis was the most common associated autoimmune disease being present in 10 patients (17.2%). The thyroid status of AIT patients showed that 6 patients (60%) were euthyroid, 3 patients (30%) had subclinical hypothyroidism and only one patient (10%) was hyperthyroid. CONCLUSION: Autoimmune hepatitis in Egyptian children is commonly associated with other autoimmune diseases. Autoimmune thyroiditis is the most common to be associated with AIH in pediatric patients. As it is not usually clinically manifesting, regular screening for AIT in children with AIH is mandatory.

Mid-term follow-up by speckle tracking and cardiac MRI of children post-transcatheter closure of large atrial septal defects.

This is a case-control study of our experience of mid-term follow-up of 40 children who had a transcatheter closure of very large atrial septal defects group (1). All cases had an atrial septal defect device size more than 1.5 times their weight, a ratio considered a contraindication for trans catheter closure (TCC) in some previous reports. The aim of this study is to report the outcomes and mid-term follow-up of transcatheter closure of large atrial septal defects using two-dimensional conventional echocardiography, tissue Doppler imaging, and four-dimensional speckle tracking imaging, and as such to compare results of same echocardiographic examination of age-matched control group of 40 healthy children group (2). Cardiac MRI was performed on cases group (1) only to detect right ventricle and left ventricle volumes and function and early signs of complications. There was no difference between cases and matched healthy controls in terms of the assessment of left ventricle and right ventricle by two-dimensional echocardiography, tissue Doppler imaging, and four-dimensional speckle tracking imaging. Similarly, there was no statistically significant difference between four-dimensional echocardiography and cardiac MRI in their respective assessment of both left ventricle and right ventricle volumes and function. We also detected no complications by echo or by cardiac MRI after a median follow-up period of 2 years and recorded a complete remodelling of right ventricle volumes in all children studied. This points to the safety and efficiency of transcatheter closure of large atrial septal defects in children on mid-term follow-up.

The potential association of tumor necrosis factor-ßeta (252 G/A) cytokine gene polymorphism with immune thrombocytopenic purpura among Egyptian children.

OBJECTIVES: The main objective of this study was to study tumor necrosis factor beta (TNFB) + 252G/A gene polymorphism, known to be related to autoimmunity, in immune thrombocytopenia (ITP) patients. We also aimed to investigate the association between TNFB + 252G/A polymorphism and susceptibility to develop persistent/chronic ITP. METHODS: One hundred pediatric ITP patients, as well as 50 age- and sex-matched healthy Egyptian subjects, were included. Genotyping of TNF-ß gene (G252A) was done using the PCR-RFLP method. RESULTS: TNFB allele B2 frequency was (64%, 64/100) in controls, (69%, 138/200) in ITP patients, while the frequency of the variant allele B1 was 36% (36/100) in controls, (31%, 62/200) in ITP patients. TNFB genotype frequency in ITP patients showed equal frequency for B2B2 and B1B2 genotypes, (46%, 46/100), while B1B1 frequency was 8% (8/100). Among controls, frequencies of B2B2, B1B2 and B1B1 genotypes were 36% (18/50), 56% (28/50), and 8% (4/50), respectively. Odds ratio for the risk of developing ITP revealed no statistically significant risk, associated with any allele or genotype. No association was encountered between different genotypes and age, hematological parameters, gender, stage of the disease or response to treatment. DISCUSSION: Comparison between ITP patients and controls as regards TNFB allele and genotype frequencies showed no statistically significant difference. No increased risk for developing ITP was associated with any allele/genotype. CONCLUSION: The risk of developing ITP was not related to the studied polymorphism.

Vitamin D Receptor (VDR) Gene Polymorphisms (FokI, BsmI) and their Relation to Vitamin D Status in Pediatrics ßeta Thalassemia Major.

Vitamin D is critical for calcium, phosphate homeostasis and for mineralization of the skeleton, especially during periods of rapid growth. Vitamin D Deficiency leads to rickets (in children) and osteomalacia (in adults). Expression and activation of the vitamin D receptor (VDR) are necessary for the effects of vitamin D, in which several single nucleotide polymorphisms have been identified especially (FokI, BsmI). In this study serum 25 (OH) vitamin D3 levels were estimated by Enzyme Linked Immunosorbent Assay [ELISA], VDR (FokI, BsmI) gene polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism assay [PCR-RFLP].Serum levels of calcium, phosphorus, alkaline phosphatase and ferritin were determined in 50 Pediatrics beta thalassemia major patients and 60 controls. Patients had significantly lower serum calcium (p < 0.001) lower serum vitamin D3 (p < 0.001) with elevated levels of phosphorus (p < 0.001) and alkaline phosphatase than controls (p = 0.04). Of the patients studied, 60 % had vitamin D deficiency (<20 ng/ml), 20 % had vitamin D insufficiency (21-30 ng/ml) and 20 % had sufficient vitamin D status (>30 ng/ml). Patients harboring mutant (Ff,ff) and wild (BB) genotypes were associated with lower serum calcium (p = 0.08, 0.02) respectively, lower vitamin D3 levels (p < 0.001, 0.01) respectively. They were also suffering from more bony complications although the difference was not statistically significant (p > 0.05). In conclusion, these results suggest that the VDR (FokI, BsmI) gene polymorphisms influence vitamin D status, (Ff,ff), BB genotypes had lower vitamin D levels, so they might influence risk of development of bone diseases in beta thalassemia major.

Impact of Prothrombotic Risk Factors in a Cohort of Egyptian Hemophilia A Patients.

INTRODUCTION: Hemophilias are a group of related bleeding disorders that show an X-linked pattern of inheritance. The clinical phenotype of severe hemophilia may vary markedly among patients as a result of many factors, including genetic prothrombotic risk factors. OBJECTIVES: Our objective was to study the incidence of the most common prothrombotic risk factors for additive effects among Egyptian patients with hemophilia A and their impact on clinical phenotype; annual bleeding frequency and severity of hemophilic arthropathy, as well as the effect of a single variation in these patients. METHODS: This study was carried out in 100 patients with hemophilia A. Genotyping for factor V Leiden (FVL) G1691A, prothrombin G20210A, MTHFR C677T, and A1298C mutations was conducted using a real time-polymerase chain reaction (RT-PCR) assay. RESULTS: Our study revealed mutations in hemophilia patients as follows: prothrombin G20210A (3 %), FVL (14 %), MTHFR C677T (42 %), and A1298C (59 %). Despite a lack of statistical significance when each gene was analysed separately, heterozygosity of prothrombin G20210A or FVL was always associated with either a mild or moderate, but never a severe, clinical presentation. The lowest bleeding frequency (less than once per month) was identified among patients with two heterozygous variants irrespective of the involved genes. In addition, the incidence of hemarthrosis was significantly higher among patients with a wild genotype of the prothrombin gene and FVL, and the average number of affected joints was significantly higher among patients with wild-type prothrombin and FVL genes than among heterozygous patients. CONCLUSION: These prothrombotic mutations have a cumulative effect in amelioration of the severity of bleeding in hemophiliacs. The most prominent effect is that of prothrombin G20210A and FVL, while MTHFR C677A and A1298C gene mutations are less conclusive.