Clinical characteristics of patients with multiple sclerosis enrolled in a new registry in Egypt

Zakaria, Magd; Zamzam, Dina; Hafeez, Mohamed A.; Swelam, Mahmoud S.; Khater, Shaimaa Sayed; Fahmy, Mai; Hady, Ayman Abdel; Fouad, Mohamed M.; Nasser, Azza Abdel; Aref, Hany; Gadallah, Mohsen

doi:10.1016/j.msard.2016.06.013

Cited by 18 publications

(13 citation statements)

References 17 publications

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“…It was concluded from our study that VDR gene variants "f," "A," and "t" alleles as well as VDR haplotypes "BAt" and "fAt" may have a protective effect against MS disease in Egyptian population. In our study, females represented most of the studied MS cases which agrees with general MS epidemiology [27,28] as well as in a recent published survey conducted by Egyptian team on Egyptian MS patients [29]. In the recent years, females outnumbered men with MS which was related to increased levels of sphingosine-1-phosphate receptor 2 (S1PR2), a blood vessel receptor protein that is expressed at higher levels by female brain tissue and controls the immune cells passage across brain blood vessels causing the inflammation that promotes MS [30].…”

Section: Discussionsupporting

confidence: 90%

“…LD pattern and degree at each genomic region contrasted broadly, and the discrepancy seen between populations strengthens the requirement for characterizing haplotypes and LD of studied population. Establishing registries in Egypt to study the clinical course of the MS disease, safety and benefit of including vitamin D supplements in treatment protocols, and the epidemiology of MS in Egypt are highly recommended [29]. Further investigation is needed with the inclusion of more cases to avoid results that can be inflated by small samples or low frequencies of minor alleles.…”

Section: Resultsmentioning

confidence: 99%

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Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population

Hassab

Deif

Elneely

et al. 2019

Egypt J Med Hum Genet

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Background: Hypovitaminosis D is one of the hazardous factors for multiple sclerosis (MS) and can be attested by expanding clinical studies. We aimed to study vitamin D receptor (VDR) gene polymorphisms: FokI, BsmI, ApaI, TaqI, and Tru9I genotype; frequency; haplotype structure; and linkage disequilibrium (LD) in MS Egyptian patients. The study was conducted on 50 MS patients and 50 healthy controls of matching age and sex. Alleles and genotype variants of VDR gene SNPs were analyzed by PCR using the restriction fragment length polymorphism (RFLP). Haplotype and linkage disequilibrium analysis based on the five genetic loci was studied on the detected genotypes. Results: Frequency of FokI genotype (Ff+ff) was significantly higher in healthy controls (50%) compared to MS (28%) (P = 0.03), and "f" allele was significantly associated with the control group (OR = 0.42, CI = 0.26-0.85, P = 0.015). Frequency of ApaI genotype (Aa+aa) was significantly higher in MS (60%) (P = 0.002), and "a" allele was significantly associated with MS cases (OR = 2.47, CI = 1.25-4.88, P = 0.008). TaqI allelic distribution showed significant association of "t" allele with control group (OR = 0.55, CI = 0.31-0.98, P = 0.04). Statistically significant LD was detected between BsmI and ApaI in controls and MS (D' = 0.89 and P < 0.001, and D' = 0.52 and P < 0.001), respectively. Odd ratios of "fAt" and "BAt" were 0.2 (95% CI = 0.06-0.66) and 0.43 (95% CI = 0.19-0.97), respectively, suggesting that MS risk was 5 times and 2.3 times lesser, respectively, for haplotype carriers compared to non-carriers. Conclusion: The study findings suggest that VDR gene variants "f," "A," and "t" alleles as well as VDR gene haplotypes "BAt" and "fAt" may have a protective effect against MS disease in Egyptian population.

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Section: Discussionsupporting

confidence: 90%

Section: Resultsmentioning

confidence: 99%

Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population

Hassab

Deif

Elneely

et al. 2019

Egypt J Med Hum Genet

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“…Several studies were conducted to characterize MS patients in Egypt; however, the characteristics were defined globally to patients with a wide range of age at onset, including both with pediatric and adult onset MS. 4 , 5 Consequently, it was important to establish a study comprising only POMS patients, in order to obtain more accurate and robust data about this understudied age group.…”

Section: Introductionmentioning

confidence: 99%

Pediatric-onset multiple sclerosis in Egypt: a multi-center registry of 186 patients

Hamdy

Naseer

Shalaby

et al. 2018

NDT

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IntroductionAlthough the frequency of pediatric-onset multiple sclerosis (POMS) has increased in recent decades, it is still highly uncommon, which creates a need for the involvement of more registries from various clinical centers.ObjectiveTo characterize the demographic, clinical, and paraclinical features of Egyptian patients with POMS.Patients and methodsA retrospective chart review study was undertaken on 237 Egyptian patients with demyelinating events which started before the age of 18 years who attended one of five tertiary referral centers in Cairo, Egypt.ResultsMultiple sclerosis was diagnosed in 186 patients, 47 (25.27%) patients had disease onset before the age of 12 years; “early-onset pediatric multiple sclerosis (EOPMS)”. The mean age of disease onset was (14.13±2.49 years), with a female:male ratio of 1.62:1, none of the enrolled patients had a primary progressive course (PPMS), whereas 10 patients (5.38%) had a secondary progressive form. Approximately two-thirds of the patients had monofocal disease onset, and less than 10% presented with encephalopathy; most of them had EOPMS. Motor weakness was the presenting symptom in half of the patients, whereas cerebellar presentation was detected in 34.95%, mainly in EOPMS. Seizures (not related to encephalopathy) were more frequent in those with EOPMS. Initial brain magnetic resonance images were positive in all patients, with detected atypical lesions in 29.03%, enhanced lesions in 35.48%, black holes in 13.98%, and infratentorial in 34.41%. Cervical cord involvement was found in 68.28%. More than two-thirds of the patients received either immunomodulatory or immunosuppressant (IS) treatment throughout their disease course, and about half of them received their treatment within the first year from symptoms onset, with a more favorable outcome, and patients with highly active disease received natalizumab, fingolimod, or other IS.ConclusionThe results from this registry – the largest for MS in the Arab region to date – are comparable to other registries. Immunomodulatory therapies in POMS are well tolerated and efficacious and they can improve the long-term outcome in children.

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“…Multiple sclerosis (MS) has an average age of onset of about 30 years [1], although studies from various populations indicate earlier presentations [2]. Approximately 5% of patients present before the age of 18 years [3], believed to be associated with a putative environmental factor acting at the age of puberty [4].…”

Section: Introductionmentioning

confidence: 99%

Pregnancy and the Use of Disease-Modifying Therapies in Patients with Multiple Sclerosis: Benefits versus Risks

Alroughani

Altıntaş

Jumah

et al. 2016

Multiple Sclerosis International

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The burden of multiple sclerosis (MS) in women of childbearing potential is increasing, with peak incidence around the age of 30 years, increasing incidence and prevalence, and growing female : male ratio. Guidelines recommend early use of disease-modifying therapies (DMTs), which are contraindicated or recommended with considerable caution, during pregnancy/breastfeeding. Many physicians are reluctant to prescribe them for a woman who is/is planning to be pregnant. Interferons are not absolutely contraindicated during pregnancy, since interferon-β appears to lack serious adverse effects in pregnancy, despite a warning in its labelling concerning risk of spontaneous abortion. Glatiramer acetate, natalizumab, and alemtuzumab also may not induce adverse pregnancy outcomes, although natalizumab may induce haematologic abnormalities in newborns. An accelerated elimination procedure is needed for teriflunomide if pregnancy occurs on treatment or if pregnancy is planned. Current evidence supports the contraindication for fingolimod during pregnancy; data on other DMTs remains limited. Increased relapse rates following withdrawal of some DMTs in pregnancy are concerning and require further research. The postpartum period brings increased risk of disease reactivation that needs to be carefully addressed through effective communication between treating physicians and mothers intending to breastfeed. We address the potential for use of the first- and second-line DMTs in pregnancy and lactation.

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Clinical characteristics of patients with multiple sclerosis enrolled in a new registry in Egypt

Cited by 18 publications

References 17 publications

Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population

Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population

Pediatric-onset multiple sclerosis in Egypt: a multi-center registry of 186 patients

Pregnancy and the Use of Disease-Modifying Therapies in Patients with Multiple Sclerosis: Benefits versus Risks

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