Association of interleukin-17F (rs763780) single nucleotide polymorphism with multiple sclerosis and optic neuritis.

IL-17F single nucleotide polymorphism (SNP) can affect IL-17F expression and activity and this can lead to the increased susceptibility to several autoimmune diseases. The aim was to investigate the association of IL-17F (rs763780) SNP with the development of multiple sclerosis (MS) in a cohort of Egyptian patients and to evaluate the effect of this polymorphism on the disease course. IL-17F (rs763780) gene polymorphisms was typed by TaqMan genotyping assay for 231 Egyptians divided into 102 MS patients and 129 healthy controls with matched age and sex. The IL-17F rs763780 C containing genotypes (CT+CC) and C allele have statistically significant increased frequency in MS patients when compared with controls (p = 0.005 and 0.004 respectively) especially in females' patients (p = 0.005 and 0.006 respectively). The heterozygous CT genotype was associated with the presence of optic neuritis (p = 0.038). The multivariable regression analysis revealed significant associations between smoking, the higher frequency of attacks and the prediction of higher EDSS score (p = 0.032, 0.049 respectively). It can be concluded that the IL-17F rs763780 C containing genotypes (CT and CC) and C allele may be risk factors for the development of MS in the studied Egyptian cohort by a gender-dependent mechanism that contributes to tendency for predisposition in females and optic neuritis is more common in patients carrying the CT heterozygous genotype.

Consensus Guideline on the Management of Epilepsy in Egypt: A National Delphi Consensus Study.

OBJECTIVE: In epilepsy, early diagnosis, accurate determination of epilepsy type, proper selection of antiseizure medication, and monitoring are all essential. However, despite recent therapeutic advances and conceptual reconsiderations in the classification and management of epilepsy, serious gaps are still encountered in day-to-day practice in Egypt as well as several other resource-limited countries. Premature mortality, poor quality of life, socio-economic burden, cognitive problems, poor treatment outcomes, and comorbidities are major challenges that require urgent actions to be implemented at all levels. In recognition of this, a group of Egyptian epilepsy experts met through a series of consecutive meetings to specify the main concepts concerning the diagnosis and management of epilepsy, with the ultimate goal of establishing a nationwide Egyptian consensus. METHODS: The consensus was developed through a modified Delphi methodology. A thorough review of the most recent relevant literature and international guidelines was performed to evaluate their applicability to the Egyptian situation. Afterward, several remote and live rounds were scheduled to reach a final agreement for all listed statements. RESULTS: Of 278 statements reviewed in the first round, 256 achieved ≥80% agreement. Live discussion and refinement of the 22 statements that did not reach consensus during the first round took place, followed by final live voting then consensus was achieved for all remaining statements. SIGNIFICANCE: With the implementation of these unified recommendations, we believe this will bring about substantial improvements in both the quality of care and treatment outcomes for persons with epilepsy in Egypt. PLAIN LANGUAGE SUMMARY: This work represents the efforts of a group of medical experts to reach an agreement on the best medical practice related to people with epilepsy based on previously published recommendations while taking into consideration applicable options in resource-limited countries. The publication of this document is expected to minimize many malpractice issues and pave the way for better healthcare services on both individual and governmental levels.

Distribution of postictal slowing has an additional yield to interictal epileptiform discharge in predicting surgical outcomes in temporal lobe epilepsy.

OBJECTIVE: To investigate whether the slowing of bilateral postictal scalp electroencephalography (EEG) after focal impaired awareness seizures is associated with poor seizure outcomes after temporal lobe epilepsy (TLE) surgery. METHODS: This retrospective cohort study was conducted in the Department of Epileptology, Tohoku University Hospital from 2010 to 2020. The study included 42 patients with TLE who underwent a detailed presurgical evaluation and sequential resective surgery for the unilateral probable epileptogenic temporal lobe with 1 year or more of follow-up. We reviewed the interictal epileptiform distribution and those of the ictal and postictal epochs of the first focal impaired awareness seizure recorded in presurgical scalp EEG. We classified patients either with postoperative seizure-free status (Engel I) as group A or those with seizure persistence (Engel II-IV) as group B. RESULTS: Of 42 patients, 29 (69%) were classified into group A. Compared with group B, group A had a lower number of bilateral postictal polymorphic delta activity (PPDA) (10.3%: 61.5%) and bilateral interictal epileptiform discharges (IEDs) (13.8%: 69.2%) (P = 0.003, P = 0.001, respectively). A combined analysis of bilateral PPDA and IEDs per individual patient showed significantly more frequent seizure persistence after surgery (P < 0.0001) than a single analysis of bilateral IEDs or PPDA alone (P = 0.001). The regression analysis revealed that bilaterally distributed PPDA or IEDs had 13.50 or 13.72 times higher odds of persisting seizures within 1 year of surgery (95% confidence interval: 1.90-95.88; 2.12-88.87, respectively) (P = 0.009, 0.006). SIGNIFICANCE: The results of this study revealed that the bilateral distribution of PPDA was associated with poor postoperative seizure outcomes in patients with TLE, as well as bilateral IEDs. Additionally, the concomitant bilateral distribution of interictal and postictal changes is a strong indicator of poor surgical outcomes.

Matrix metalloproteases 9 rs3918242 gene polymorphism and serum vit D in MS Egyptian patients.

The high frequency of MS, especially among women in the Middle East countries as well as the high cost of caring has become a truly public concern. T-cell trafficking across the interrupted BBB, which constitutes a core immunological feature of the disease, needs activation of matrix metallo-proteinases. MMP-9 (which represents the largest and most complex of MMP family) was a subject for functional polymorphism of rs3918242 gene, but with controversial results among different MS ethnic groups. In this study, we evaluated the role of MMP9 genotypes of rs3918242 (-1562 C/T) in MS susceptibility and disability among patients using PCR-RFLP. Vitamin D assessment using ELISA, as an indirect indicator of MMP activity and proinflammatory status, was also measured to find out its relation to this polymorphism. Results: CT, CT+TT genotypes and T allele carriers were found most among MS patients as compared to healthy controls with a P value of 0.009 CI (1.216- 4.346), suggesting higher susceptibility risk for the disease. Also a significant decrease of Vitamin D in MS group (P < 0.001) were detected. Though this genetic polymorphism was found insignificantly among different clinical measures of MS disease severity, vitamin D level was significantly lower in patients with RRMS and for those with high disabilities. This low level was not influenced by the -1562 C/T polymorphism. In conclusion, MMP9 genotypes of rs3918242 have a role in MS susceptibility, but not with  severity. Vitamin D deficiency was also a predominant feature among all MS patients irrespective of their MMP9 genotypes of rs3918242, implying its association with MS activity in different courses of the disease. The gentic susceptibility for MS disease is growing and needs to be studied well in different ethnic groups for their important diagnostic and therapeutic implications.

Phase-Contrast MRI CSF Flow Measurements for the Diagnosis of Normal-Pressure Hydrocephalus: Observer Agreement of Velocity Versus Volume Parameters.

OBJECTIVE: Manual segmentation of the aqueduct for CSF flow analysis may induce measurement variability. The aim of our study was to assess observer agreement of manual segmentation and to compare the repeatability and accuracy of different flow parameters in differentiating normal-pressure hydrocephalus (NPH) from brain atrophy. SUBJECTS AND METHODS: Thirty-two subjects were included and were divided into three groups: control, NPH, and brain atrophy. Subjects underwent phase-contrast MRI. Quantitative analysis of aqueductal CSF flow using manual ROI placement was performed by two independent readers. Reader 1 repeated measurements 3 months after the first session to assess interobserver and intraobserver agreement. Intraclass correlation coefficients (ICCs), within-subject SD, and repeatability were calculated. Peak systolic velocity (PSV), peak mean velocity, and aqueductal CSF stroke volume, which we refer to as "stroke volume," were recorded and compared between the three patient groups. The ROC curves of diagnostic accuracy for NPH were compared. RESULTS: PSV was ROI-independent, so only one measurement was obtained. The NPH group had significantly higher PSV, peak mean velocity, and stroke volume values in all readings than both the control and brain atrophy groups. The accuracy of PSV for the diagnosis of NPH was 82.7%, and the accuracy of peak mean velocity was 92.5-93.3% for the three readings. Stroke volume had perfect accuracy of 100% for the three readings. The stroke volume had higher ICCs (0.97 and 0.98) than the peak mean velocity (0.88). The intraobserver repeatability and interobserver repeatability of peak mean velocity were 1.9 cm/s, and the intraobserver repeatability and interobserver repeatability of stroke volume were 27.4 and 19.6 µL/cycle, respectively. CONCLUSION: Stroke volume had better agreement and repeatability and was more accurate than peak mean velocity for the diagnosis of NPH. PSV lacks variability but was the least accurate.