Association of interleukin-17A gene polymorphisms and susceptibility to systemic lupus erythematosus in Egyptian children and adolescents: a multi-centre study.

BACKGROUND: Recently, the interleukin-17A (IL-17A) gene has emerged as a potential candidate gene for autoimmune disorders, including systemic lupus erythematosus (SLE). OBJECTIVES: This study aimed to investigate whether IL-17A polymorphisms at rs2275913 G/A, rs8193036 C/T and rs3748067 C/T could be susceptibility markers for juvenile-onset SLE (JSLE) and lupus nephritis (LN) in Egyptian children and adolescents. METHODS: In this multi-centre study, we genotyped 320 patients diagnosed with JSLE and 320 matched control children for three IL-17A polymorphisms at rs2275913 G/A, rs8193036 C/T and rs3748067 C/T using TaqMan probe-based real-time polymerase chain reaction. Meanwhile, IL-17A serum levels were assessed using ELISA. RESULTS: The IL-17 rs2275913 A/A genotype and A allele were more represented in JSLE patients compared to the control group (21% vs. 7%, odds ratio (OR) = 3.8, 95% confidence interval (CI) 1.78-5.5, p = 0.001, pBonf = 0.003 for the A/A genotype; 37% vs. 29%, OR = 1.4, 95% CI 1.11-1.8, p = 0.003, pBonf = 0.009 for the A allele. No significant difference was found for IL-17 rs8193036 and rs3748067 single nucleotide polymorphisms (SNPs) in genotype distribution or allele frequencies (p>0.05). Patients carrying the IL-17 rs2275913 A/A genotype and A allele were more likely to develop LN (OR = 5.64, 95% CI 2.39-13.77, pBonf = 0.001 for the A/A genotype; OR = 2.73, 95% CI 1.84-4.07, pBonf = 0.02 for the A allele). CONCLUSION: The IL-17 rs2275913 A allele and A/A genotype were associated with high IL-17 serum levels and may contribute to susceptibility to JSLE and the development of LN in Egyptian children and adolescents. However, no significant association was evident between the studied IL-17A SNPs and other clinical phenotypes, disease activity scores or laboratory profile of JSLE.

Tissue Doppler imaging versus conventional echocardiography in assessment of cardiac diastolic function in full term neonates with perinatal asphyxia.

BACKGROUND AND OBJECTIVE: Limited number of studies evaluated cardiac diastolic function in neonates with perinatal asphyxia using tissue Doppler imaging. The aim of this study was to evaluate the echocardiographic parameters in full-term neonates with perinatal asphyxia compared to healthy full-term neonates. Diagnostic value of echocardiographic parameters of diastolic dysfunction in predicting mortality in asphyxiated neonates was assessed. SETTING: Neonatal intensive care unit at the Obstetric and Gynecology Hospital, Cairo University, Egypt (a tertiary care center). PATIENTS AND METHODS: This study included 20 neonates with perinatal asphyxia (cases) and 20 healthy full-term nonasphyxiated neonates (as controls). The studied groups were assessed by conventional pulsed wave Doppler and tissue Doppler imaging. RESULTS: Among pulsed wave Doppler parameters, cases had statistically significant lower values (denoting more diastolic dysfunction) than controls as regards mitral E velocity (p = .04) and mitral E/A ratio (p = .04). Similarly, among tissue Doppler parameters, cases had statistically significant lower values (denoting more diastolic dysfunction) than controls as regards septal E'/A' ratio (p = .019), left ventricular E' velocity (p = .001), and E'/A' ratio (p < .001). Septal E'/A' ratio and right ventricular E'/A' ratio were significantly lower (p = .012 and p = .025, respectively) among nonsurvivors (denoting more diastolic dysfunction) compared to survivors. Moreover, cases had statistically significant higher values (denoting more diastolic dysfunction) than controls as regards septal (p < .001), left ventricular (p < .001), and right ventricular (p < .001) tissue Doppler-based myocardial performance indices. Asphyxiated neonates showed statistically significant higher evidence of left ventricular diastolic dysfunction than controls in both pulsed wave Doppler and tissue Doppler with p < .001 and p = .001, respectively; while there was no difference as regards right ventricular diastolic dysfunction. Tissue Doppler was able to detect higher number of neonates with left ventricular diastolic dysfunction than conventional pulsed wave Doppler. CONCLUSIONS: Tissue Doppler imaging was found to be able to detect diastolic dysfunction early in neonates with perinatal asphyxia specifically as regards the left ventricle. Assessment of myocardial function is important in asphyxiated neonates. Tissue Doppler imaging should be considered an integral part of assessment of cardiac function in asphyxiated neonates.

Parameters affecting outcome of paediatric cardiomyopathies in the intensive care unit: experience of an Egyptian tertiary centre over 7 years.

Introduction: Paediatric cardiomyopathies are rare but serious and often life-threatening conditions. In the absence of cardiac transplant and ventricular assist device as treatment options in our region, it is very important to identify patients at higher risk. The aim of this study was to determine the outcome of patients diagnosed with cardiomyopathies and their prognostic indicators. Patients and methods: This study included 92 cases representing all patients diagnosed with cardiomyopathy who were admitted into the pediatric cardiac intensive care unit during the period from January 2012 to September 2018. The patients were classified into two groups according to the outcome: the first group comprised 69 patients who survived, and the second group comprised 23 patients who died. All medical records were reviewed, and data were recorded and analysed. Results: Patients with cardiomyopathies represented 8.6% (92/1071) of all patients with cardiac diseases who were admitted in the study period and in the target age group (0.5-12 years). Dilated cardiomyopathy (DCM) was the most frequent type of cardiomyopathy among the admitted patients (80 patients), while 6 patients were diagnosed with hypertrophic cardiomyopathy (HCM), 4 were diagnosed with restrictive cardiomyopathy (RCM), and only 2 were diagnosed with mixed DCM-RCM. Seventy patients required inotropic support (76.1%). Assisted mechanical ventilation was used on 15 patients (16.3%). Twenty-three patients (25.0%) died during the 7-year study period. Conclusions Conclusions The occurrence of hypotension, abnormally high liver enzymes, the need for mechanical ventilation and the need for multiple inotropic drugs were found to be statistically significant predictors of mortality, while age, sex, fractional shortening, ejection fraction, presence of mitral regurgitation, mural thrombus, electrolyte disturbance and arrhythmias did not predict or affect patients' outcomes.