huda marzouk, yomna farag, 1I. Ashmawy, N. A. Helmy, A. Ramadan, and S. A. E. H. Aziz, "Altered Serum Levels of Mir-130b-3p & Mir-148a-3p in Egyptian Pediatric Patients with Juvenile Onset Systemic Lupus Erythematosus and Lupus Nephritis", Egyptian Journal of Medical Microbiology, vol. 33, issue 2537-0979, pp. 221-226, october/2024. ejmm_volume_33_issue_4_pages_221-226.pdf
huda marzouk, D. H. Ahmed, H. M. A. Shady, H. T. A. Sarhan, and M. S. E. M. A. Kader, "A Study on Semaphorin 3A Level in Juvenile-onset Systemic Lupus Erythematosus Patients.", Current rheumatology reviews, vol. 21, issue 3, pp. 288-309, 2025. Abstract

BACKGROUND: Juvenile-onset systemic lupus erythematosus (jSLE) is an uncommon yet severe autoimmune/inflammatory condition affecting multiple bodily systems, typically manifesting before the age of 18. This disease exhibits significant complexity, displaying considerable variation among patients. Its effects can range in severity from minor to fatal, characterized by a pattern of recurring flare-ups and periods of remission, making its natural progression difficult to predict.

AIM: The aim of this work is to investigate the correlation between semaphorin 3A and systemic lupus erythematosus patients who follow up at Pediatric Rheumatology Unit Children's Hospital at Cairo University.

MATERIALS AND METHODS: This cross-sectional research was performed at the Pediatric Rheumatology Unit Cairo University Children's Hospital and included cases with jSLE under treatment and follow-up from the period of August 2021 to August 2022.

RESULTS: Regarding demographic data of the studied subjects, highly significant variances were noted among the patient group and control group regarding age (years) and sex. However, there were non-significant variances among the patient group and control group concerning weight. In the current research, median (IQR) onset of disease was 2 (1-3) years, mean ± SD age at disease diagnosis was 8.98 ± 2.13 years, median (IQR) disease duration 2 (1-3) years, family history was negative in 36 (90.0%) patients and consanguinity was negative in 28 (70.0%). The distribution of the manifestations within the patients group was as follows 7 (17.5%) with mucocutaneous, 7 (17.5%) with vasculitis, 4 (10.0%) with serositis, 11 (27.5%) with cardiac, 17 (42.5%) with renal, 11 (27.5%) with GIT, 5 (12.5%) with hematological, and 4 (10.0%) with neurological manifestations. In addition, there were 2 (5.0%) with arthritis, 31 (77.5%) with arthralgia, and 2 (5.0%) with fever, mean ± SD systolic BP was 115.95 ± 8.38 and mean ± SD diastolic BP was 75.60 ± 6.11. Regarding treatments in the patients' group, the median steroid dose was 15 mg (5-25) with median duration of 2 (1-3), 38 (95.0%) patients received hydroxychloroquine with mean ± SD hydroxychloroquine dose of 205.26 mg ± 51.71. 23 (57.5%) patients received cyclophosphamide with mean ± SD number of cyclophosphamide doses 7.17 mg ± 2.42. Mycophenolate was received in 27 (67.5%) with mean ± SD dose of 614.07 mg ± 225.85. There were highly statistically significant differences between control group and patients' group concerning TLC, creatinine, and ESR. Highly statistically significant variance was noted among the control group and patients group concerning CRP. Regarding the patients' group, the mean ± SD serum C3 was 99.89 mg/dl ± 28.45, median (IQR) serum C4 was 14.5 mg/dl (8.8-25.5), and median (IQR) albumin creatinine ratio was 27 IU/ML (16-186). There was positive ANA with titre and pattern in 34 patients (85.0%), positive antids- DNA in 25 patients (62.5%), and positive anticardiolipin IgM and IgG in 5 patients (12.5%). Renal biopsy was found to be normal in 23 (57.5%), lupus nephritis class II, III in 3 (7.5 percent), lupus nephritis class III in 10 (25.0%), and lupus nephritis class IV in 4 (10.0%). Urine analysis results showed the following: normal in 28 (70.0%), albumin in 2 (5.0%), casts in 2 (5.0%), pus cell in 4 (10.0%), albumin + casts in 2 (5.0%) and albumin + pus cell in 2 (5.0%). Regarding semaphorin 3A level, a highly statistically significant variance was noted among the control and patients group concerning semaphorin 3A level found to be lower in cases than control with a p-value below 0.001. In patients' group, a negative correlation for semaphorin 3A with SBP, DBP, AST and ESR and also a positive correlation with steroid duration in the studied patients was noted. In addition, highly significant association between semaphorin 3A and positive CRP was also observed. However, no significant relationship between semaphorin 3A and SLE manifestations except arthritis was found related to semaphorin 3A level. ROC curve shows that the semaphorin 3A cut-off point to predict SLE ≤ 3 with sensitivity = 47.50, specificity=92.50, PPV=86.4, and NPV=63.8.

CONCLUSION: Reduced plasma Semaphorin 3A levels were found in this study; furthermore, their clinical relationship in SLE proposes their significant job in this illness. Furthermore, the ROC results demonstrated that Semaphorin 3A could be a new symptomatic biomarker in SLE with very high sensitivity for the determination of SLE, demonstrating that they might be helpful biomarkers for the evaluation of SLE. However, extra studies that focus on the potential role of Semaphorin 3A in SLE are needed.

Mahmoud, S. S. E., H. M. Mohamed, Y. M. Farag, M. M. AbdulSalam, and S. I. Falah, "Evaluating Galectin-3 (LGALS3) +191 gene variant and serum Galectin-3 levels in Egyptian children with familial mediterranean fever", International Journal of Health Sciences, vol. 6, issue s5, pp. 11701–11712., 2022. ijhs-1210211701-11712_1.pdf
Mahmoud, S. S. E., H. M. Mohamed, Y. M. Farag, M. M. AbdulSalam, and S. I. Falah, "Evaluating Galectin-3 (LGALS3) +191 gene variant and serum Galectin-3 levels in Egyptian children with familial mediterranean fever", International Journal of Health Sciences, vol. 6, issue s5, pp. 11701–11712., 2022. ijhs-1210211701-11712_1.pdf
yomna farag, S. Sayed, F. A. Mostafa, huda marzouk, R. H. Mohamed, and R. Sobhy, "Cardiac repolarization abnormalities in children with familial Mediterranean fever.", Pediatric rheumatology online journal, vol. 20, issue 1, pp. 38, 2022. Abstract

BACKGROUND: Familial Mediterranean fever (FMF) is an autoinflammatory disease that can have conduction disturbances and cardiac rhythm disorders as manifestations of cardiac involvement. The aim of the study is to assess the susceptibility of children with FMF to cardiac repolarization abnormalities and therefore arrhythmia in children with FMF.

METHODS: A cross sectional study conducted on 60 children had FMF and 40 age and sex matched healthy controls. Cardiac repolarization markers, cardiac dimensions and functions were assessed by electrocardiogram (ECG) and conventional echocardiography in patients and controls.

RESULTS: The mean ± SD age of the patients was 10.43 ± 3.472 years, corrected QT (QTc) and the ratio of peak to end T wave (Tpe) over QTc interval (Tpe /QTc) increased significantly in FMF patients more than healthy control (p value 0.023 and 0.022 respectively). P wave dispersion (Pd) was significantly higher in FMF patients with amyloidosis (p value 0.030). No significant difference was found in cardiac dimensions and functions between the two groups. We found a statistically negative correlation between Pd and age of patients at time of study, age of disease onset and age at diagnosis. On the other hand, we found a statistically significant positive correlation between Pd with number of attacks per year and disease severity score. Furthermore, Tpe/QTc ratio correlated with FMF 50 score, QTc correlated with 24 hours proteinuria. QT, JT intervals correlated with fibrinogen.

CONCLUSIONS: FMF Patients may have increased risk of arrhythmia and should be monitored on regular basis. Compliance to colchicine therapy and better disease control might play a role in decreasing this risk.

Osman, H. T., N. Mostafa, huda marzouk, N. Sabry, M. A. R. I. S. E. ABDOU, and I. Khalifa, "Ultrasound Hand and Wrist Findings in Children with Systemic Lupus Erythematosus.", Current rheumatology reviews, vol. 19, issue 2, pp. 197-204, 2023. Abstract

BACKGROUND: Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease that can involve any organ system. SLE typically affects the musculoskeletal system to varying degrees, and patients are frequently most prone to have pain in the hand joints.

OBJECTIVES: The study aims to assess by ultrasound the presence of joint inflammation in patients with juvenile Systemic Lupus Erythematosus (JSLE) not complaining of painful joints of the hand and wrist (asymptomatic) and compare the findings with those in JSLE patients complaining of painful hand and wrist joints (symptomatic) and in healthy controls.

METHODS: This was a cross-sectional case control study on 37 JSLE patients. Thirty were asymptomatic for joint complaints. Ultrasound examined wrists and joints of both hands, 11 joints in each hand, to assess synovial hypertrophy, effusion and pathological vascularization (using power Doppler) (PD), and were given a score of 0-3. Patients were compared with 8 healthy controls.

RESULTS: Ultrasound abnormalities (synovial hypertrophy and increased vascularity) were detected in 22/30 of the asymptomatic patients (73.3%) and in all 7 symptomatic patients (100%). In asymptomatic children, 29 joints were affected (4.4% of all joints), compared to 13 joints in the symptomatic patients (8.4% of all joints). Synovitis score was mild or moderate (1 or 2) in both symptomatic and asymptomatic patients, with all showing increased vascularity. In the control group, 5 joints (2.8% of all joints) showed synovial hypertrophy but no increased vascularity.

CONCLUSION: Increased vascularity (PD more than 0) is a more reliable indicator of inflammation than synovial hypertrophy, which may be detected in healthy individuals.

Medhat, B. M., A. Elmaghraby, yomna farag, huda marzouk, N. Mostafa, I. Khalifa, abdelaal mohammed, M. Elkhalifa, E. H. E. S. Hassan, and W. A. Hassan, "Assessment of Lupus Nephritis in a Multicenter Retrospective Egyptian Cohort: Initial Characteristics, Influence of Age and Gender, Outcome, and Potential Association with Disease Damage.", Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, vol. 33, issue 1, pp. 90-105, 2022. Abstract

The study aimed to evaluate the association of demographic, clinical, and histopathologic characteristics with renal and disease outcomes. Persistent lack of partial or complete remission despite sequential induction therapy, chronic kidney disease (CKD) or endstage renal disease (ESRD), and/or mortality were determined as poor renal outcomes. Disease damage was investigated through the Systemic Lupus International Collaborating Clinics/ American College of Rheumatology Damage Index (SDI). Of 201 biopsy-proven lupus nephritis patients, a poor outcome was present in 56 (27.9%) patients, with nine (4.5%), 22 (10.9%), and 29 (14.4%) patients demonstrating lack of response, CKD, and ESRD, respectively, and the prevalence of mortality was 5.5% (11/201). The outcome was poor among males [29/201 (14.4%)] [P = 0.008; odds ratio (OR): 2.8; 95% confidence interval (CI): 1.2-6.4], yet comparable between adult- and juvenile-onset patients [80/201 (39.8%) (≤16 years)] (P = 0.6; OR: 0.8; 95% CI: 0.4-1.6). Hypertension (P <0.001; OR: 6.3; 95% CI: 2.6-14.9), elevated creatinine (P <0.001; OR: 5.2; 95% CI: 2.6-10.3), and hematuria (P <0.001; OR: 3.7; 95% CI: 1.9-7.5) at presentation, and fibrinoid necrosis [P <0.001; odds ratio (OR): 4.1; 95% confidence interval (CI): 2.1-8.1], wire loops (P = 0.006; OR: 2.4; 95% CI: 1.2-4.6), crescents (P <0.001; OR: 5.4 95% CI: 2.8-10.5), interstitial fibrosis (P = 0.001; OR: 2.7; 95% CI: 1.4-5.1), and acute vascular lesions (P = 0.004; OR: 3.6; 95% CI: 1.4-9.4) on biopsy were associated with a poor outcome. Chronic glomerular (P = 0.003) and acute vascular lesions (P <0.001), and a higher chronicity index (r = 0.1; P = 0.006) on biopsy, and frequent renal (r = 0.3; P <0.001) and extra-renal flares (r = 0.2; P <0.001) were associated with higher SDI scores. Among the studied renal and extra-renal parameters, independent predictors of higher disease damage solely included frequent renal flares (ᵝ= 1; P <0.001). To conclude, a poor renal outcome (27.9%) was associated with distinct features. Disease damage was associated with frequent renal flares.

yomna farag, S. Salah, H. Tawfik, M. Hamed, and huda marzouk, "Toll-like receptor-4 gene variations in Egyptian children with familial Mediterranean fever", Egyptian Rheumatology and Rehabilitation, vol. 48, 2021. s43166-020-00053-y.pdf
El-Garf, K., A. El-Garf, R. Gheith, S. Badran, S. Salah, huda marzouk, yomna farag, I. Khalifa, and N. Mostafa, "A comparative study between the disease characteristics in adult-onset and childhood-onset systemic lupus erythematosus in Egyptian patients attending a large university hospital.", Lupus, vol. 30, issue 2, pp. 211-218, 2021. Abstract0961203320972778_1_new_research.pdf

INTRODUCTION: Disease features and laboratory abnormalities differ among adult-onset and childhood-onset systemic lupus erythematosus (aSLE and cSLE). Socioeconomic status both independent of, and in combination with, ethnicity influences the disease phenotype and outcome.

OBJECTIVE: To compare the various disease features among patients with cSLE and aSLE in a limited monetary income Egyptian cohort attending a large free-of-charge university hospital. Patients and methods: Retrospective analysis of the medical records of 714 SLE patients attending Cairo University Hospitals from January 2000 to December 2019. Of them 602 (400 with aSLE and 202 with cSLE) were enrolled in the study.

RESULTS: The mean age of disease onset was 28.27 ± 10.55 among aSLE patients compared to 12.88 ± 4.26 years among cSLE patients. Disease duration was 12.03 ± 5.05 and 4.14 ± 3.18 years in aSLE and cSLE, respectively. Female to male ratio was 15:1 among patients with aSLE, as compared to 2.67:1 among cSLE (<0.001). Arthritis (69%), oral ulcers (48.5%), neuropsychiatric (18.3%) and thrombotic manifestations of antiphospholipid syndrome (12%) were significantly more frequent in aSLE. On the other hand, renal (67.8%), serositis (49.6%), fever (49%), lymphopenia (40.6%), hemolytic anemia (38.6%), and discoid lupus (13.4%) were significantly more frequent in cSLE. Weight loss, malar rash, photosensitivity, thrombocytopenia, leucopenia and lymphadenopathy were not significantly different between the two groups. Hypocomplementemia, proteinuria, urinary sediments, hematuria were significantly more frequent in cSLE. For those patients with renal involvement, who underwent renal biopsy (58.3% in aSLE and 63.5% in cSLE), there was no significant difference with regard to the different histopathological classes. Anti-Smith, anti-cardiolipin antibodies and rheumatoid factor were significantly more frequent among aSLE patients, while anti-La antibodies were more frequent among cSLE patients.

CONCLUSION: Arthritis was the most common clinical manifestation over time in aSLE compared to renal involvement in cSLE. Renal disease tends to be more active in cSLE. The differences in disease manifestations between this cohort and other studies can be attributed to the ethnic and socioeconomic disparities.

El-Garf, K., A. El-Garf, S. Salah, huda marzouk, yomna farag, and N. Mostafa, "A juvenile dermatomyositis: demographics, characteristics and disease outcome in an Egyptian cohort.", Clinical and experimental rheumatology, vol. 40, issue 2, pp. 450-456, 2022. Abstractjdm_article_new_reseach.pdf

OBJECTIVES: To study the demographics, characteristics, management and disease outcome of Egyptian children with juvenile dermatomyositis (JDM).

METHODS: Retrospective analysis of the records of 134 JDM patients attending two centres in Cairo, Egypt from January 2010 to December 2019. A total of 128 patients were included in the study, all of which fulfilled either the Bohan and Peter criteria and/or the EULAR/ACR classification criteria of 2017.

RESULTS: The mean age of disease onset was 5.9±2.8 years and the follow-up duration were 6±3.2 years. Female to male ratio was 2.2:1. Constitutional manifestations and cutaneous skin ulcers were common, while gut vasculopathy was rare in our patients. Heliotrope rash was the commonest skin manifestation. Lactate dehydrogenase enzyme was more frequently elevated than creatine kinase. Electromyography was the most frequently used diagnostic procedure, while muscle biopsy and muscle MRI were not commonly done in our patients. Glucocorticoids, methotrexate, hydroxychloroquine, mycophenolate mofetil and IVIG were the most frequently used medications. Sixty (46.9 %) of the patients had clinically inactive disease, at the last follow-up visit. Chronic skin disease, residual muscle weakness, calcinosis and growth failure were among the most common cumulative damage manifestations. The mortality rate was 1.6% over the follow-up period, one death was due to severe infection, and the other due to respiratory failure.

CONCLUSIONS: Although our patients shared several similarities with their peers in the Middle East and in Europe, there were some striking differences. These differences can be attributed to the ethnic and environmental disparities.