Huda Marzouk

MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura

BackgroundDue to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutations in controls may help in estimating the prevalence of MEFV mutation carrier rate in Egyptian children.MethodsThe study enrolled 90 individuals, sixty children with Henoch-Schonlein purpura (HSP), together with 30 sex-and age-matched apparently healthy controls. The entire study group was screened for 12 common MEFV mutations using a reverse hybridization assay of biotinylated PCR products.ResultsPatients with HSP had a significantly higher frequency of MEFV mutations (61.7%), when compared to the apparently healthy control population (36.7%). V726A was the most frequent mutation with an allelic frequency of 10.8%. Ninety- one percent of patients with MEFV mutations were heterozygous for one mutation, while 8.1% had a compound heterozygous MEFV gene mutations. The mutation V726A, followed by E148Q, were the leading mutations, present in 16.6% and in 13.3% of controls.ConclusionsMEFV mutations may be related to HSP susceptibility in children. The mutations were not associated with any clinical and laboratory manifestations. Screening for MEFV mutations in larger number of HSP children may be beneficial to evaluate any possible relationship between certain types of MEFV mutations and HSP, and compare the HSP MEFV mutations to the types of MEFV mutations associated with FMF.

Serum vitamin D level in Egyptian children with Familial Mediterranean fever

BACKGROUND The aim of the study is to measure plasma vitamin D levels in a group of Egyptian children with familial Mediterranean fever (FMF) compared to healthy children. METHODS The study enrolled 52 children with FMF and 40 apparently healthy controls. Serum vitamin D level was measured by enzyme-linked immunosorbent assay. RESULTS The mean serum vitamin D level was significantly lower in children with FMF than control group (12.3±3.4 and 21.2±3.5ng/mL, respectively, p<0.001). Vitamin D level was significantly lower in female patients than males (11.3±2.9, 13.2±3.6, respectively p=0.04). No statistically significant relations were detected between vitamin D level and different clinical, laboratory and genetic variables. CONCLUSION Vitamin D levels were lower in Egyptian FMF children than healthy controls. There is a speculation that vitamin D deficiency in FMF patients may be related to inflammation. Further studies with larger number of patients before and after Vitamin D, therapy may be needed. Supplementation with high doses of vitamin D seems appropriate for children with FMF.

Serum Amyloid A Level in Egyptian Children with Familial Mediterranean Fever.

Background and Objectives. SAA is an acute-phase reactant detected during an FMF attack or other inflammatory conditions. High SAA levels may increase the risk of amyloidosis. The aim of the study is to measure the serum amyloid A (SAA) level in a group of Egyptian children with familial Mediterranean fever (FMF) and study its various correlates, if any. Methods. The study enrolled seventy-one children with FMF. Results. SAA level was high in 78.9% of the studied patients with a mean of 81.62 ± 31.6 mg/L, and CRP was positive in 31% of patients. There was no significant releation between SAA level and any demographic or clinical manifestation. High SAA was more frequent in V726A allele (16.9%) followed by M694V allele (12.3%). Elevated SAA levels were more frequent in patients on low colchicine doses. Forty-five percent (45%) of patients have low adherence to colchicine therapy. Interpretation and Conclusion. High SAA levels were detected two weeks after last FMF attack in a large percentage of Egyptian FMF children. This indicates that subclinical inflammation continues during attack-free periods, and SAA could be used as a marker of it.

Ocular Manifestations in Children with Juvenile-Onset Systemic Lupus Erythematosus

ABSTRACT Purpose: To study the ocular manifestations of juvenile systemic lupus erythematosus (JSLE), including the ocular side-effects of the systemic medications used. Methods: A descriptive cross-sectional study on 40 children diagnosed with JSLE was conducted. Ophthalmological and laboratory investigations as well as a calculation of the Systemic Lupus Disease Activity Index 2000 (SLEDAI-2K) were performed. Results: Forty consecutive children, 32 females and 8 males, with JSLE were examined. Their mean age was 13±2.8 years and the mean SLEDAI-2K was 4.3±3.1. An abnormal Schirmer test was found in 16 patients (40%), retinal vascular changes were found in seven patients (17.5%), and one patient (2.5%) had faint posterior subcapsular cataract. Conclusion: Serious sight-threatening complications were not detected in our study; dry eye was the most common ocular finding, and the detected retinopathy was related to systemic hypertension and could not be correlated to either disease activity or duration.

Epidemiological Profile of Acute Viral Encephalitis in a Sample of Egyptian Children

INTRODUCTION: Acute encephalitis syndrome (AES) is a considerable public health problem. AIM: This study was designed to describe the aetiology, demographic features, clinical picture, short-term outcome and risk factors of mortality of children with viral encephalitis in Egyptian children. METHODS: PCR detection of viruses in the CSF of pediatric patients admitted to the pediatric unit or ICU Cairo University Pediatric hospital presenting with encephalitis syndrome. RESULTS: Of the 96 patients included in the study, viral etiological agents were detected in 20 cases (20.8%), while 76 patients (79.2%) had no definite viral aetiology. The most abundant virus detected was Enterovirus (EV) in fourteen (14.5%), two (2.1%) were positive for human herpes simplex virus 6 (HSV-6), one (1.0%), human herpes simplex virus1 (HSV-1), one (1.0%) Epstein Barr virus (EBV), one (1.0%), cytomegalovirus (CMV) and one (1.0%) with varicella-zoster virus (VZV). On the short term outcome, 22 (22.9) patients died, and 74 (77.1%) survived. Severity outcome among survival was vegetative in three cases (4%) severe in 9 (12.16%), moderate in 14 (18.9%), mild in 29 (39.2%) and full recovery in 19 (25.6%). Mortality risk factors for younger age, the presence of apnea, the need for mechanical ventilation and the presence of abnormal CT findings were all significantly associated with fatal outcome (p < 0.05). CONCLUSION: Enterovirus was the most common cause of encephalitis among Egyptian children. Mortality was correlated with younger age and disease severity at admission. Sequelae were high among infected children.

Serum IL 4 and its gene polymorphism (rs79071878) in Egyptian children with familial Mediterranean fever

Familial Mediterranean fever (FMF) is an autoinflammatory disorder. It is caused by mutations in the MEFV gene encoding the pyrin protein, which regulates the innate inflammatory response. The aim of the current study was to investigate the relationship between serum Interleukin-4 (IL-4) and its gene polymorphism, namely rs79071878, and FMF occurrence, severity, and response to treatment in Egyptian children harboring the disease. Fifty Egyptian children diagnosed as having FMF were included in this study. They were divided equally into two groups according to disease activity. Forty controls, age- and gender-matched, were also included. Serum IL-4 levels were measured by enzyme-linked immunosorbent assay (ELISA). The IL-4 rs79071878 polymorphism was determined by polymerase chain reaction (PCR) analysis. There was no significant difference in genotype distribution of IL-4 gene rs79071878 between patients and controls (p = 0.286) and had no correlation with FMF severity or response to colchicine therapy. Serum IL-4 level had no significant difference between children with FMF attack and those in attack-free period compared to controls (p = 0. 794) and had no correlation with any of demographic, or clinical characteristics, disease severity, or response to colchicine therapy. Serum IL-4 level and its gene polymorphism were not found to have any increase risk of FMF occurrence, disease severity, or response to treatment in the Egyptian children. Further studies are needed to verify these results.

Value of Microperimetry in Detecting Early Retinal Toxicity of Hydroxychloroquine in Children with Juvenile Systemic Lupus Erythematosus

Purpose: To evaluate retinal sensitivity in children who are on hydroxychloroquine (HCQ) for systemic lupus erythematosus using microperimetry and compare the results with those of the Humphrey visual field (HVF) 10-2 and spectral-domain optical coherence tomography (SD-OCT). Procedure: A case-control cross-sectional study including 19 patients (less than 18 years old) on HCQ for at least 5 years. Controls were 21 normal children. Participants underwent a complete ophthalmic examination, then were investigated using HVF 10-2, SD-OCT, and microperimetry. Results: Ocular examination revealed no abnormalities. The overall mean microperimetry sensitivity of the patients (15.75 dB) was not significantly different from that of the controls (16.35 dB). The HVF 10-2 showed a significant difference in the mean deviation of the patients. Conclusions and Message: Microperimetry was not more revealing than HVF 10-2 and SD-OCT. Larger studies are required to compare the diagnostic accuracy of screening modalities of retinal toxicity in children on HCQ.

Mean Platelet Volume and Splenomegaly as Useful Markers of Subclinical Activity in Egyptian Children with Familial Mediterranean Fever: A Cross-Sectional Study

Objective. To study whether mean platelet volume (MPV) and splenomegaly could be used as subclinical inflammatory markers in children with familial Mediterranean fever (FMF) at the attack-free period. Patients and Methods. The study included ninety-seven children with FMF. MPV was carried out within 4 hours of blood sampling according to standard laboratory practice. Splenomegaly was determined by abdominal ultrasound (USG). Results. High MPV was detected in 84.45% of our studied patients and was significantly higher in FMF patients with splenomegaly than in patients without splenomegaly. There was a statistically significant correlation between MPV and splenic span (P = 0.045). Conclusion. Elevated MPV and its significant correlation with splenic span in FMF children during the attack-free periods support the use of MPV and splenomegaly as useful markers of the subclinical inflammation in FMF patients at the attack-free period.