Moustafa Ali Saad

@medicine.cu.edu.eg

Rheumatology and Immunology unit, Internal Medicine department, Kasr Alainy Faculty of Medicine, Cairo University
Kasralainy

Moustafa Ali Saad


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https://researchid.co/moustafa.ali.saad

RESEARCH, TEACHING, or OTHER INTERESTS

Medicine, Rheumatology
11

Scopus Publications

Scopus Publications

  • Predictors of proteinuria, amyloidosis and kidney failure in familial Mediterranean fever: Data from the International AIDA Network Registry
    Antonio Vitale, Valeria Caggiano, Jessica Sbalchiero, Abdurrahman Tufan, Ezgi Deniz Batu, et al.
    Rheumatology, 2025
    Objectives Proteinuria, amyloidosis and kidney failure are the main long-term renal complications of FMF. This study assesses their risk factors, independent of ethnicity or residence. Methods Patients’ data were drawn from the International AIDA Network registry for monogenic autoinflammatory diseases. Results A total of 598 FMF patients were enrolled, with 80 having proteinuria, 61 amyloidosis and 25 kidney failure. At multivariate regression analysis, proteinuria was associated with out-of-flares thrombocytosis (odds ratio [OR]: 4.78, 95% CI: 1.54–14.8, P = 0.007), increased out-of-flares ESR (OR: 2.7, 95% CI: 1.3–5.6, P = 0.008), homozygous M694V mutation (OR: 2.27, 95% CI: 1.1–4.66, P = 0.025) and heterozygous M694V mutation (OR: 0.29, 95% CI: 0.09–0.86, P = 0.026); amyloidosis was associated with the disease duration (OR: 1.034, 95% CI: 1.004–1.065, P = 0.027), during-flares anaemia (OR: 2.9, 95% CI: 1.18–7.19, P = 0.021), out-of-flares leucocytosis (OR: 7.47, 95% CI: 1.6–34.7, P = 0.01), increased out-of-flares ESR (OR: 3.6, 95% CI: 1.48–8.81, P = 0.005) and heterozygous M694V mutation (OR: 0.18, 95% CI: 0.035–0.9, P = 0.04); kidney failure was associated with the age at diagnosis (OR: 1.04, 95% CI: 1.0003–1.19, P = 0.048), the disease duration in years (OR: 1.07, 95% CI: 1.02–1.12, P = 0.005), attack frequency per year (OR: 1.04, 95% CI: 1.007–1.076, P = 0.019), anaemia out-of-flares (OR: 4.7, 95% CI: 1.004–22.1, P = 0.049) and out-of-flares leucocytosis (OR: 25.8, 95% CI: 2.75–242, P = 0.004). The intraclass correlation coefficient related to ethnicity and country of residence was 6.7% and 6.8% for amyloidosis, respectively, and 0% for proteinuria and kidney failure. Conclusion FMF patients with older age at diagnosis, longer disease duration, anaemia, leucocytosis, thrombocytosis, elevated ESR and homozygous M694V mutation are at higher risk of kidney complications.
  • The association between CD14 (C-159T) single-nucleotide polymorphism and Behcet’s syndrome and its clinical manifestations in Egyptian patients, an observational case–control genetic association study
    Moustafa Ali Saad, Hala Ibrahem El Gendy, Olfat Shaker, Mariana Victor Philips, Yumn A. Elsabagh
    Clinical Rheumatology, 2025
    Background Cluster of differentiation 14 (CD14) molecules are immune cell surface molecules that bind and display lipopolysaccharides (LPSs) of gram-negative bacteria to Toll-like receptor 4 (TLR4), facilitating LPS-induced immune cell activation. The CD14 promoter polymorphism C-159T is positively correlated with CD14, and homozygous carriers of the T allele have a significant increase in soluble and membrane-bound CD14. Objective To assess the C-159T polymorphism in Behcet patients compared to controls, and to study its relationship with disease manifestations and activity. Methods Fifty-one adult Egyptian patients with Behcet’s syndrome and another 51 healthy controls were recruited. Behcet’s syndrome activity was assessed. A blood sample was obtained from each participant for DNA extraction. The extracted DNA was used to determine the C-159T polymorphism in the CD14 promoter gene (rs2569190) using real-time polymerase chain reaction. Results The prevalence of the TT genotype was higher in Behcet patients (23.7%) in comparison to the controls (8%) (OR = 5.3, P value = 0.01). The prevalence of the T allele was higher in Behcet patients (49.1%) in comparison to the controls (31.4%) (OR = 2.1, P value = 0.01). The skin erythema was found to be significantly ( P value = 0.003) higher in frequency among the TT genotype (58.3%) compared to the CT genotype (26.9%). Moreover, the skin pustules were found to be significantly ( P value = 0.01) higher in frequency among the TT genotype (41.6%) compared to the CT genotype (11.5%). Conclusion CD14 (C-159T) polymorphism is associated with an increased risk of developing Behcet’s syndrome and is correlated with its dermatological manifestations. Key points • Behcet’s syndrome is a variable-vessel vasculitis in which aberrant innate immunity is integral to the pathogenesis of the disease .• CD14 molecules recognize pathogens with subsequent activation of innate immunity .• The CD14 promoter gene C-159T single-nucleotide polymorphism increases the susceptibility to Behcet’s syndrome .• The C-159T polymorphism correlates with skin manifestations of Behcet’s syndrome .
  • Development and implementation of the International AIDA Network Castleman’s disease registry
    Antonio Vitale, Jessica Sbalchiero, Valeria Caggiano, Stefano Lazzi, Samar Tharwat, et al.
    Frontiers in Medicine, 2025
    Castleman’s disease (CD) consists of a wide spectrum of rare disorders classified into unicentric CD and multicentric CD (MCD), based on the diffusion of disease distribution and the severity of clinical manifestations. While unicentric CD is characterized by a single lymph node involvement, MCD is defined by multiple lymph node station involvement with more prominent systemic symptoms. MCD is further subdivided into HHV-8 associated MCD, polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, skin changes (POEMS)-associated MCD, and idiopathic MCD (iMCD), which is also subdivided into iMCD-TAFRO (thrombocytopenia, anasarca, fever, reticulin fibrosis, organomegaly) and iMCD-NOS (not otherwise specified). The rarity of the disease makes it still poorly understood, as current insight is largely based on case reports and relatively small patient cohorts. Therefore, knowledge about the clinical details of the disease, histological correlations, complications, prognostic factors, and optimal treatment management remains incomplete. The potential offered by the creation of online data sharing makes the development of a registry specifically dedicated to CD a necessary step to conduct solid research on this condition. Building on the experience and widespread international reach of the AutoInflammatory Disease Alliance (AIDA) Network, the development of this registry can allow the recruitment of a sufficient number of patients to conduct robust research in all the fields of the disease. Moreover, the AIDA Network itself will enable multidisciplinary and integrated collaboration among the various figures necessary for the optimal diagnostic, clinical, and therapeutic management of patients affected by CD in its different forms.
  • 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, Mervat Essam Behiry
    Egyptian Journal of Medical Human Genetics, 2024
    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, Ahmed H. Laymouna
    Egyptian Rheumatologist, 2024
  • 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, et al.
    Frontiers in Immunology, 2024
    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, et al.
    Internal and Emergency Medicine, 2024
  • 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, Hala Ibrahem El Gendy
    Pediatric Rheumatology, 2023
    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, et al.
    Internal and Emergency Medicine, 2023
    To 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, et al.
    Frontiers in Medicine, 2022
    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, et al.
    Frontiers in Medicine, 2022