Cytokines and growth factors in Duchene muscular dystrophy patients

Introduction: Dystrophin deficiency associated with Duchene muscular dystrophy (DMD) results in chronic inflammation and severe skeletal muscle degeneration, where the extent of muscle fibrosis contributes to disease severity. The microenvironment of dystrophic muscles is associated with variation in levels of cytokine and growth factors. Most of the current researches test for such cytokines and growth factors in tissue biopsies, which is an invasive technique. The Aim: Of the present study is to investigate whether cytokines and growth factors, as indicators of inflammatory response, can be detected in blood of DMD patients as non-invasive technique. Patient and Methods: Accordingly the cytokine tumor necrosis factor alfa (TNF TNF-α), as well as the growth factors basic fibroblast growth factor (bFGF) and vascular endothelial growth factor (VEGF) were measured in blood of 24 boys with DMD diagnosed clinically and at the molecular level versus 20 age matching healthy boys. Results: Showed a significant increases in TNF-ά (30.2 ± 9.5 vs. 3.6 ± 0.9 pg/ ml) and bFGF (21.7 ± 10.3 vs. 4.75 ± 2.2 pg/ml.), while VEGF was significantly decreased (190 ± 115 vs. 210 ± 142 pg/ml) in blood of DMD patients compared to controls. Conclusion: Results provide further proof that inflammatory response is associated with DMD pathogenesis and favours the use of biomarkers in blood of such patients as a non invasive technique. Keywords:(basic fibroblast growth factor (bFGF), duchene muscular dystrophy, necrosis factor alfa (TNF TNF-α), vascular endothelial growth factor (VEGF)).Egyptian Journal of Medical Human Genetics Vol. 9 (2) 2008: pp. 181-18

Assessment of immune function in Down syndrome patients

In Down syndrome (DS), trisomy 21 leads to overexpression of gene coding for specific enzymes. This overexpression translates directly into biochemical aberrations that affect multiple interacting metabolic pathways which culminates in cellular dysfunction and contributes to the unique pathogenesis of DS. The aim of this study is to evaluate parameters of immune response in terms of cytokines [tumor necrosis factor-a (TNF-a) and interlukin-2 (IL-2)] together with the quantitative expression of cystathionine beta synthase (CBS), whose transsulfuration pathway generates cysteine and hydrogen sulfide (H2S). H2S is known to boost host defense at physiological concentrations and to display cytotoxic activity at higher concentrations. Calcineurin activity (CAN) was also measured as its dysregulation has been shown to cause immune  suppression. Subjects were 60 DS patients vs. 30 age and socioeconomic matching healthy controls. In their blood, the cytokines: TNF-a and IL-2, together with CBS and its by product H2S as well as CAN activity, were measured. Results showed that CBSmRNA relative expression (0.56± .06 vs. 0.32 ± .02), plasma H2S (72 ±8.5 vs. 50.8 ± 4.1) and TNF-a (8.11 ± .01 vs. 3.6± 0.9) were significantly higher among DS patients compared to controls, while CAN (0.27 ± 0.1 vs. 0.45 ±0.2 units), was significantly decreased in blood of DS patients compared to controls. IL-2 (36.4 ± 2.6 vs. 37.4 ±0.9) showed no significant difference between DS patients and controls. Accordingly it can be concluded that excessive synthesis of multiple gene products derived from overexpression of the genes present on chromosome 21 may be the cause for decreased immunity in DS patients compared to controls

Indicators of Apoptosis in Duchenne Muscular Dystrophy Patients

Background: Tissue sections of dystrophic muscle demonstrate apoptotic myonuclei in degenerating muscle fibers of Duchene muscle dystrophy (DMD) patients. The apoptosis cascade can be triggered by 2 main pathways, via an intrinsic, endogenous system such as the mitochondrial Bax/Bcl-2 or via an extrinsic system involving transmembrane receptors of the death receptor family Fas and Fas Ligand (FasL). Aim of the Work: The present study is an attempt to demonstrate the levels of Fas and FasL and Bax/Bcl-2 in DMD pathogenesis. Patient and Methods: Subjects were 16 boys with DMD diagnosed clinically and at the molecular level versus 20 age and socioeconomic matching healthy boys. Results: Plasma DNA fragmentation (0.38%±0.12 vs. 0.2%±.0.1.5) and Fas (9.9±2.8 vs. 2±0.1,

Efficacy of fetal echocardiography in prenatal diagnosis of congenital heart diseases

Background: Congenital heart diseases are the commonest fetal congenital defects and until nowadays most of them are bypassed without prenatal diagnosis to be still considered as unexplained stillbirths or perinatal deaths. In this study, we tried to prove the importance of routine fetal cardiac screening in the ANC visits and also confirming its high accuracy.Methods: This study was prospective longitudinal one, including doing ISUOG extended fetal cardiac screening for one hundred foetuses  scheduled at certain gestational age visits, whom their half were at risks for CHDs and the other were not, with comparing the results to antenatal and postnatal detailed fetal echocardiography.Results: The best gestational age for the fetal cardiac screening was at 18-22 weeks gestation. The accuracy of the screening to the antenatal echocardiogram was 96%-100% and to the postnatal one was 96%-98%.Conclusions: CHDs are still the commonest congenital fetal defects and the antenatal fetal cardiac screening by extended basic views has high accuracy. Making this screening a routine in ANC visits will be of great help in improving the fetal outcome

Analytic Solutions of the Space-Time Fractional Combined KdV-mKdV Equation

The fractional mapping method is proposed to solve fractional differential equations. To illustrate the effectiveness of the method, we discuss the space-time fractional combined KdV-mKdV equation. Many types of exact analytical solutions are obtained. The solutions include generalized trigonometric and hyperbolic functions solutions. These solutions are useful to understand the mechanisms of the complicated nonlinear physical phenomena and fractional differential equations. Among these solutions, some are found for the first time

Analytic Solutions of the Space-Time Fractional Combined KdV-mKdV Equation

The fractional mapping method is proposed to solve fractional differential equations. To illustrate the effectiveness of the method, we discuss the space-time fractional combined KdV-mKdV equation. Many types of exact analytical solutions are obtained. The solutions include generalized trigonometric and hyperbolic functions solutions. These solutions are useful to understand the mechanisms of the complicated nonlinear physical phenomena and fractional differential equations. Among these solutions, some are found for the first time