Moustafa Ali Saad

Scopus Publications

Nuclear factor kappa B 1 A > G single-nucleotide polymorphism (rs4648068) in Egyptian patients with Behcet’s syndrome, case–control study
Moustafa Ali Saad, Hala Ibrahem El Gendy, Ahmed Hatem Laymouna, Olfat Shaker, and Mervat Essam Behiry
Springer Science and Business Media LLC
Abstract Background Behcet's syndrome (BS) is a variable-vessel vasculitis characterized by hyperactive innate immunity. The nuclear factor kappa B (NFKB) pathway is involved in the regulation of inflammatory responses including innate and adaptive immune responses. BS could be associated with NFKB hyperactivation. We aimed to study the association between the NFKB1 A > G (rs4648068) single-nucleotide polymorphism (SNP) and BS in Egyptian patients, in comparison to healthy controls, and to correlate the presence of rs4648068 SNP with the different activity domains of the disease. After ethical committee approval (Faculty of Medicine, Cairo University, Egypt, code MD-228-2022), the International Study Group Criteria for Behçet's Disease (ISG) criteria was used to recruit 60 BS patients, and the activity of the disease was assessed using Behcet’s Disease Current Activity Form (BDCAF) and the Behcet Syndrome Activity Score (BSAS). Another 60 matched controls were recruited. DNA extraction was done followed by PCR amplification to detect the target SNP. Results The GG genotype was significantly higher in BS versus controls (21.7% and 5%, respectively, p value = 0.015). Also, the G allele was significantly higher in BS versus controls (43.3% and 30%, respectively, p value = 0.033). Of the whole activity domains, only arthralgia was found to be significantly correlated with rs4648068 SNP. Conclusion NFKB1 rs4648068 A > G SNP increases the risk of developing BS. Among patients with BS, the GG genotype is protective against developing arthralgia. There is no statistically significant relation between rs4648068 SNP and either other activity domains of BS or the different activity scores of the disease.

Microribonucleic acid-9 (miRNA-9) as a potential diagnostic marker in Behҫet's syndrome patients
Moustafa A. Saad, Hala I. El Gendy, Mervat E. Behiry, Olfat Shaker, and Ahmed H. Laymouna
Elsevier BV

Risk for cancer development in familial Mediterranean fever and associated predisposing factors: an ambidirectional cohort study from the international AIDA Network registries
Antonio Vitale, Valeria Caggiano, Abdurrahman Tufan, Gaafar Ragab, Ezgi Deniz Batu, Piero Portincasa, Emma Aragona, Jurgen Sota, Giovanni Conti, Amato De Paulis,et al.
Frontiers Media SA
ObjectiveInflammation has been associated with an increased risk for cancer development, while innate immune system activation could counteract the risk for malignancies. Familial Mediterranean fever (FMF) is a severe systemic inflammatory condition and also represents the archetype of innate immunity deregulation. Therefore, the aim of this study is to investigate the risk for cancer development in FMF.MethodsThe risk ratio (RR) for malignancies was separately compared between FMF patients and fibromyalgia subjects, Still’s disease patients and Behçet’s disease patients. Clinical variables associated with cancer development in FMF patients were searched through binary logistic regression.Results580 FMF patients and 102 fibromyalgia subjects, 1012 Behçet’s disease patients and 497 Still’s disease patients were enrolled. The RR for the occurrence of malignant neoplasms was 0.26 (95% Confidence Interval [CI.] 0.10-0.73, p=0.006) in patients with FMF compared to fibromyalgia subjects; the RR for the occurrence of malignant cancer was 0.51 (95% CI. 0.23-1.16, p=0.10) in FMF compared to Still’s disease and 0.60 (95% CI. 0.29-1.28, p=0.18) in FMF compared to Behçet’s disease. At logistic regression, the risk of occurrence of malignant neoplasms in FMF patients was associated with the age at disease onset (β1 = 0.039, 95% CI. 0.001-0.071, p=0.02), the age at the diagnosis (β1 = 0.048, 95% CI. 0.039-0.085, p=0.006), the age at the enrolment (β1 = 0.05, 95% CI. 0.007-0.068, p=0.01), the number of attacks per year (β1 = 0.011, 95% CI. 0.001- 0.019, p=0.008), the use of biotechnological agents (β1 = 1.77, 95% CI. 0.43-3.19, p=0.009), the use of anti-IL-1 agents (β1 = 2.089, 95% CI. 0.7-3.5, p=0.002).ConclusionsThe risk for cancer is reduced in Caucasic FMF patients; however, when malignant neoplasms occur, this is more frequent in FMF cases suffering from a severe disease phenotype and presenting a colchicine-resistant disease.

Correction: Clinical and laboratory features associated with macrophage activation syndrome in Still’s disease: data from the international AIDA Network Still’s Disease Registry (Internal and Emergency Medicine, (2023), 18, 8, (2231-2243), 10.1007/s11739-023-03408-3)
Paola Triggianese, Antonio Vitale, Giuseppe Lopalco, Henrique Ayres Mayrink Giardini, Francesco Ciccia, Ibrahim Al-Maghlouth, Piero Ruscitti, Petros Paul Sfikakis, Florenzo Iannone, Isabele Parente de Brito Antonelli,et al.
Springer Science and Business Media LLC

IgG4 related pericardium and lung disease in pediatric patient complicated with fatal massive hemoptysis: a case report and review of literature
Moustafa Ali Saad, Hamdy Ahmed, Rasmia Elgohary, and Hala Ibrahem El Gendy
Springer Science and Business Media LLC
Abstract Background IgG4-related disease (IgG4-RD) is a progressive and sometimes fatal disease that rarely affects pediatric age group. It may affect the orbits, lacrimal and salivary glands, pancreas, kidneys, peritoneum and other organs. Lung and pleura are not commonly reported in IgG4-RD. We here present a rare case of pediatric IgG4-RD with rare involvement of pericardium, pleura and lungs. Case presentation A 13-year-old girl presented with intrathoracic IgG4-RD with pleuropericardial involvement. She showed initial improvement on prednisolone. Azathioprine and then mycophenolate failed to control relapses during steroid tapering. Her last relapse was treated by rituximab however, the patient developed acute fatal massive hemoptysis. Conclusions Pediatric IgG4-RD is a rare entity with pericardio-pulmonary affection as the rare of the rare. Usual treatment of prednisolone and steroid sparing agents should be used, with rituximab used as a rescue therapy, but fatal complications may occur.

Clinical and laboratory features associated with macrophage activation syndrome in Still’s disease: data from the international AIDA Network Still’s Disease Registry
Paola Triggianese, Antonio Vitale, Giuseppe Lopalco, Henrique Ayres Mayrink Giardini, Francesco Ciccia, Ibrahim Al-Maghlouth, Piero Ruscitti, Petros Paul Sfikakis, Florenzo Iannone, Isabele Parente de Brito Antonelli,et al.
Springer Science and Business Media LLC
AbstractTo characterize clinical and laboratory signs of patients with Still’s disease experiencing macrophage activation syndrome (MAS) and identify factors associated with MAS development. Patients with Still’s disease classified according to internationally accepted criteria were enrolled in the AutoInflammatory Disease Alliance (AIDA) Still’s Disease Registry. Clinical and laboratory features observed during the inflammatory attack complicated by MAS were included in univariate and multivariate logistic regression analysis to identify factors associated to MAS development. A total of 414 patients with Still’s disease were included; 39 (9.4%) of them developed MAS during clinical history. At univariate analyses, the following variables were significantly associated with MAS: classification of arthritis based on the number of joints involved (p = 0.003), liver involvement (p = 0.04), hepatomegaly (p = 0.02), hepatic failure (p = 0.01), axillary lymphadenopathy (p = 0.04), pneumonia (p = 0.03), acute respiratory distress syndrome (p < 0.001), platelet abnormalities (p < 0.001), high serum ferritin levels (p = 0.009), abnormal liver function tests (p = 0.009), hypoalbuminemia (p = 0.002), increased LDH (p = 0.001), and LDH serum levels (p < 0.001). At multivariate analysis, hepatomegaly (OR 8.7, 95% CI 1.9–52.6, p = 0.007) and monoarthritis (OR 15.8, 95% CI 2.9–97.1, p = 0.001), were directly associated with MAS, while the decade of life at Still’s disease onset (OR 0.6, 95% CI 0.4–0.9, p = 0.045), a normal platelet count (OR 0.1, 95% CI 0.01–0.8, p = 0.034) or thrombocytosis (OR 0.01, 95% CI 0.0–0.2, p = 0.008) resulted to be protective. Clinical and laboratory factors associated with MAS development have been identified in a large cohort of patients based on real-life data.

Development and implementation of the AIDA international registry for patients with Schnitzler's syndrome
Jurgen Sota, Antonio Vitale, Ewa Więsik-Szewczyk, Micol Frassi, Giuseppe Lopalco, Giacomo Emmi, Marcello Govoni, Amato de Paulis, Achille Marino, Antonio Gidaro,et al.
Frontiers Media SA
ObjectiveThe present paper describes the design, development, and implementation of the AutoInflammatory Disease Alliance (AIDA) International Registry specifically dedicated to patients with Schnitzler's syndrome.MethodsThis is a clinical physician-driven, population- and electronic-based registry implemented for the retrospective and prospective collection of real-life data from patients with Schnitzler's syndrome; the registry is based on the Research Electronic Data Capture (REDCap) tool, which is designed to collect standardized information for clinical research, and has been realized to change over time according to future scientific acquisitions and potentially communicate with other existing or future similar registries.ResultsSince its launch, 113 centers from 23 countries in 4 continents have been involved. Fifty-seven have already obtained the approval from their local Ethics Committees. The platform counts 324 users (114 Principal Investigators, 205 Site Investigators, 2 Lead Investigators, and 3 data managers) at current (April 28th, 2022). The registry collects baseline and follow-up data using 3,924 fields organized into 25 instruments, including patient's demographics, history, clinical manifestations and symptoms, trigger/risk factors, laboratory, instrumental exams, therapies, socioeconomic information, and healthcare access.ConclusionsThis International Registry for patients with Schnitzler's syndrome facilitates standardized data collection, enabling international collaborative projects through data sharing and dissemination of knowledge; in turn, it will shed light into many blind spots characterizing this complex autoinflammatory disorder.

Development and Implementation of the AIDA International Registry for Patients With Undifferentiated Systemic AutoInflammatory Diseases
Francesca Della Casa, Antonio Vitale, Giuseppe Lopalco, Piero Ruscitti, Francesco Ciccia, Giacomo Emmi, Marco Cattalini, Ewa Wiesik-Szewczyk, Maria Cristina Maggio, Benson Ogunjimi,et al.
Frontiers in Medicine Frontiers Media SA
ObjectiveThis paper points out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to pediatric and adult patients affected by Undifferentiated Systemic AutoInflammatory Diseases (USAIDs).MethodsThis is an electronic registry employed for real-world data collection about demographics, clinical, laboratory, instrumental and socioeconomic data of USAIDs patients. Data recruitment, based on the Research Electronic Data Capture (REDCap) tool, is designed to obtain standardized information for real-life research. The instrument is endowed with flexibility, and it could change over time according to the scientific acquisitions and potentially communicate with other similar tools; this platform ensures security, data quality and data governance.ResultsThe focus of the AIDA project is connecting physicians and researchers from all over the world to shed a new light on heterogeneous rare diseases. Since its birth, 110 centers from 23 countries and 4 continents have joined the AIDA project. Fifty-four centers have already obtained the approval from their local Ethics Committees. Currently, the platform counts 290 users (111 Principal Investigators, 179 Site Investigators, 2 Lead Investigators, and 2 data managers). The Registry is collecting baseline and follow-up data using 3,769 fields organized into 23 instruments, which include demographics, history, symptoms, trigger/risk factors, therapies, and healthcare information access for USAIDs patients.ConclusionsThe development of the AIDA International Registry for USAIDs patients will facilitate the online collection of real standardized data, connecting a worldwide group of researchers: the Registry constitutes an international multicentre observational groundwork aimed at increasing the patient cohort of USAIDs in order to improve our knowledge of this peculiar cluster of autoinflammatory diseases. NCT 05200715 available at https://clinicaltrials.gov/.

Moustafa Ali Saad

RESEARCH, TEACHING, or OTHER INTERESTS

Scopus Publications