Nuha M. Alkhawajah

Background/Objectives: Disability in relapsing–remitting multiple sclerosis (RRMS) reflects multiple pathological processes that may not be fully captured by individual MRI markers. Because an EDSS score ≥ 3 represents a clinically meaningful threshold of moderate-to-higher disability, this study evaluated the cross-sectional ability of brain volumetric measures and IVIM-DWI parameters to identify patients with RRMS who had EDSS ≥ 3. Methods: This retrospective cross-sectional study included 189 patients with RRMS who had complete EDSS, lesion count, IVIM-DWI, and brain volumetric MRI data. Patients were stratified into EDSS < 3 and EDSS ≥ 3 groups. Single-marker ROC analyses were performed for lesion count, IVIM-DWI parameters, absolute volumetric measures, and fractional volumetric measures. Combined ROC models were constructed to assess the discriminatory performance of integrating lesion burden, volumetric MRI, and IVIM-DWI metrics. Internal model stability was evaluated using 5-fold cross-validation. Results: Patients with EDSS ≥ 3 had higher lesion count, higher ADC and D values, lower gray matter, white matter, and brain parenchymal volumes, higher CSF volume, higher CSF fraction, and lower brain parenchymal fraction (BPF). In single-marker ROC analysis, BPF and CSF fraction showed the strongest discriminatory performance (AUC = 0.705), followed by lesion count (AUC = 0.696), whereas absolute BV showed minimal discriminatory value (AUC = 0.503). The core lesion count + BPF model achieved an AUC of 0.757 and a cross-validated AUC of 0.737. Adding perfusion fraction (f) produced the numerically highest cross-validated performance, with an AUC of 0.769 and a cross-validated AUC of 0.746, although the incremental improvement over lesion count + BPF was modest and not statistically significant. Conclusions: Fractional volumetric measures showed stronger discriminatory performance than absolute BV for EDSS ≥ 3 stratification in RRMS. The lesion count + BPF + f model achieved the highest cross-validated performance among the evaluated MRI models; however, overall discrimination was moderate, and the incremental improvement associated with f was not statistically significant. These exploratory findings require evaluation in larger longitudinal cohorts with external validation.

Background/Objectives: Multiple sclerosis (MS) is an autoimmune disorder affecting the central nervous system, characterised by the degradation of myelin, which results in various neurological symptoms. This study aims to utilise radiomics features to evaluate the predictive value of IVIM diffusion parameters, namely, the true diffusion coefficient (D), pseudo-diffusion coefficient (D*), and perfusion fraction (f), in relation to disability severity, assessed using the Expanded Disability Status Scale (EDSS), and mobility in patients with relapsing–remitting MS. Methods: This retrospective cross-sectional study analysed MRI data from 197 patients diagnosed with multiple sclerosis (MS). Quantitative intravoxel incoherent motion (IVIM) parameters were obtained using a 1.5 Tesla MRI scanner. Clinical information collected included age, disease duration, number of relapses, status of disease-modifying therapy (DMT), and the need for mobility assistance. Machine learning (ML) techniques, such as XGB, Random Forest, and ANN, were employed to explore the relationships between radiomic IVIM parameters and these clinical variables. Results: IVIM radiomics achieved high accuracy in lesion phenotyping. Random Forest distinguished enhancements from non-enhancing lesions with 96% accuracy and AUC = 0.99 with IVIM-f and D* maps. CNN also reached ~92% accuracy (AUC 0.97) with IVIM-f. For disability prediction, IVIM-D and D* radiomics strongly correlated with EDSS: Random Forest achieved 89% accuracy (AUC = 0.90), while CNN achieved 90% accuracy (AUC = 0.95). Mobility impairment was predicted with the highest performance—RNN achieved 96% accuracy (AUC = 0.99) across IVIM-f features. In contrast, relapse history, disease duration, and treatment status were poorly predicted (<75% accuracy). Conclusions: ML analyses of IVIM metrics provided independent predictors of functional impairment and disability in MS. Our novel approach may be used to improve diagnostic accuracy and develop personalised treatment strategies for MS patients.

Background/Objectives: Quantitative intravoxel incoherent motion (IVIM) imaging, incorporating both diffusion- and perfusion-derived metrics, offers a promising non-invasive approach for assessing tissue microstructure and clinical disability in multiple sclerosis (MS). This study aimed to investigate the correlation and predictive values of the IVIM apparent diffusion coefficient (ADC), true diffusion coefficient (D), and perfusion-derived pseudo-diffusion coefficient (D*) and perfusion fraction (f) parameters with disability status, measured using the Expanded Disability Status Scale (EDSS), in relapsing–remitting MS patients. Methods: This cross-sectional study retrospectively analyzed MRI data from 197 MS patients. Quantitative IVIM parameters were extracted from scans obtained using a 1.5 T MRI scanner. Clinical data were also obtained, including age, disease duration, number of relapses, disease-modifying therapy (DMT) status, and need for mobility assistance. Bivariate analyses were conducted to compare mean values across subgroups. Pearson correlation was used to examine associations between EDSS score and imaging/clinical variables. Multiple linear regression was applied to identify independent predictors of EDSS score. Results: The bivariate analyses revealed that ADC, D, D*, and EDSS values were higher in patients over 50 years old, those with a longer disease duration, and those who required mobility assistance. f was higher in females and DMT-treated patients, but it had no effect on EDSS score. Patients with longer disease duration and limited mobility had a higher number of MS lesions and relapses. EDSS score exhibited positive Pearson correlations with ADC, D, D*, the number of MS lesions, and the number of relapses (p-value < 0.001). In the multivariate regression analysis, only the number of MS lesions and relapses emerged as independent predictors of EDSS score (p-value < 0.001). Other variables, including ADC, D, D*, f, age, and disease duration, were not independently associated with EDSS score (p-value > 0.05). Conclusions: This study demonstrates the utility of IVIM parameters in detecting microstructural alterations associated with MS impairment. Despite relapse frequency and lesion count being the strongest predictors of EDSS score, IVIM metrics showed meaningful clinical correlations. The findings support combining IVIM biomarkers with clinical data for better disability assessment.

Introduction: A retrospective case series of acute intermittent porphyria (AIP) presenting with acute quadriparesis is described with a focus on patterns of neuropathy and nerve conduction study findings.Methods: Six patients with acute polyneuropathy were diagnosed with AIP on the basis of characteristic clinical findings, urine porphobilinogen levels, and pathogenic variants in the hydroxymethylbilane synthase gene. Vital function impairment, neuropathic patterns, serial changes in nerve conduction studies (NCS), and laboratory findings are reviewed.Results: A total of six patients with acute porphyric neuropathy were included. Patterns of weakness varied between upper and lower extremities. Three patients exhibited allodynia with preservation of large fiber sensory modalities in the acute polyneuropathy phase. Initial NCS revealed motor axonal polyneuropathy in four patients with sparing of motor conduction velocities and latencies. Relative sparing of tibial compound muscle action potential amplitudes is seen in two patients. Serial NCS revealed interval reduction of compound muscle action potential amplitudes in the upper extremity only in one patient and selective reduction of sensory nerve action potential amplitudes of the lower extremity in another patient. There were substantial delays in diagnoses, with all but one patient misdiagnosed as GBS. All but two patients required ambulation aids at last follow‐up assessment.Conclusion: The findings in this series show variability in neuropathic patterns and NCS changes over time in AIP presenting with acute polyneuropathy. Small fiber neuropathy and allodynia with sparing of large fiber sensory modalities may serve as a diagnostic clue guiding early recognition of AIP in patients presenting with acute polyneuropathy.

The Expanded Disability Status Scale (EDSS) is commonly used to measure and quantify disabilities in patients with multiple sclerosis (MS). The patient-determined disease steps (PDDS) scale is a patient-reported measure of disability that is useful in MS. However, the Arabic version of the PDDS has only been tested in Jordanian patients. Although both populations share similar Arabic languages, it is plausible that differences in dialects and educational systems could alter the generalizability of the tool. In this prospective study, patients with MS were asked to complete a printed translated version of the (PDDS), and the results were compared to their EDSS scores, functional system scores, and walking speed measures. Patients with relapsing or progressive MS were included in the study. Spearman rho rank-order correlation coefficients (P) were used to measure the correlation between the PDDS and other variables. We considered previously reported P values > .1, .3, and .5 as small, moderate, and strong correlations, respectively. A total of 79 patients completed the study. The PDDS showed a strong correlation with the EDSS (P = .69, 95% confidence interval 0.55–0.79, P < .001). PDDS is associated with cerebellar, pyramidal, and bladder dysfunctions. It was also moderately correlated with the timed-25-foot walk test and timed-up-and-go test. The Arabic version of the PDDS performed similarly to English and other languages when tested on a cohort of patients with MS.

Multiple sclerosis (MS) is an inflammatory neurological illness common in young adults. The prevalence and incidence of MS are regionally and globally increasing. Recent data from Saudi Arabia (SA) estimate the prevalence to be 40.40 cases per 100,000 population, and 61.95 cases per 100,000 population for Saudi nationals. With the increasing availability of treatment options, new challenges for treatment selection and approaches have emerged. There is a clear need for national guidelines to standardize practice, guide the personalization of decisions, and contain increasing costs. A multidisciplinary expert panel was formed to develop evidence-based Saudi consensus recommendations on the diagnosis and clinical care of MS, to aid healthcare practitioners in advising patients on treatment decisions. The recommendations were agreed upon after a thorough review, an evaluation of existing international guidelines, and the latest emerging evidence.

The very fact that multiple sclerosis (MS) is incurable and necessitates life-long care makes it one of the most burdensome illnesses. The aim of this study was to compare the cost-effectiveness of orally administered medications (e.g., fingolimod, dimethyl fumarate, and teriflunomide), interferon (IFN)-based therapy, and monoclonal antibodies (MABs) (e.g., natalizumab and rituximab) in the management of relapsing-remitting multiple sclerosis (RRMS) in Saudi Arabia using real-world data. This was a retrospective cohort study in which patients with RRMS aged ≥18 years without any other chronic health conditions with non-missing data for at least 12 months were recruited from the electronic health records of a university-affiliated tertiary care center. Multiple logistic regressions controlling for age, sex, and duration of therapy were conducted to examine the odds of disability progression, clinical relapse, MRI lesions, and composite outcome (e.g., relapse, lesion development on MRI, disability progression). The number of patients who met the inclusion criteria and were included in the analysis was 146. Most of the patients were female (70.51%) and young (e.g., ≤35 years of age). There were 40 patients on the orally administered agents (e.g., dimethyl fumarate, teriflunomide, fingolimod), 66 patients were on IFN-based therapy (e.g., Rebif^®), and 40 patients were on monoclonal antibodies (e.g., rituximab and natalizumab). Patients on MABs had lower odds of the composite outcome (OR = 0.17 (95% CI: 0.068–0.428)). The use of orally administered agents was dominant (e.g., more effective and less costly), with average annual cost savings of USD −4336.65 (95% CI: −5207.89–−3903.32) and 8.11% higher rate of effectiveness (95% CI: −14.81–18.07) when compared with Rebif^®. With regard to the use of MABs in comparison to Rebif^®, MABs were associated with higher cost but a better rate of effectiveness, with an average additional annual cost of USD 1381.54 (95% CI: 421.31–3621.06) and 43.11% higher rate of effectiveness (95% CI: 30.38–61.15) when compared with Rebif^®. In addition, the use of MABs was associated with higher cost but a better rate of effectiveness, with an average additional annual cost of USD 5717.88 (95% CI: 4970.75–8272.66) and 35% higher rate of effectiveness (95% CI: 10.0–42.50) when compared with orally administered agents. The use of MABs in the management of RRMS among the young patient population has shown to be the most effective therapy in comparison to both IFN-based therapy (e.g., Rebif^®) and orally administered agents, but with higher cost. Orally administered agents resulted in better outcomes and lower costs in comparison to IFN-based therapy. Future studies should further examine the cost-effectiveness of different disease-modifying therapies for the management of RRMS using more robust study designs.

Introduction: There are a number of well-established risk factors for multiple sclerosis (MS). Other factors, however, showed conflicting or inconsistent results. Here, we examine some factors that are unique to or more practiced in Saudi Arabia (SA) and the Arab region such as waterpipe tobacco smoking (WTS), face veiling, raw milk (RM) and camel milk (CM) consumption, and tuberculosis (TB) infection in addition to other traditional factors. Methods: This is a sex- and age-matched case-control study in which we used a structured questionnaire to examine the relation between a number of factors and exposures and the risk of MS. Three hundred MS patients and 601 controls were included. Data were analyzed across different statistical models using logistic regression adjusting for age, sex, marital status, duration of breastfeeding, age first joining school, coffee consumption, and face exposure. Results: Cigarette smoking (OR = 1.79, [95% CI: 1.01–3.17], p = 0.047), WTS (OR = 2.25, [95% CI: 1.21–4.15], p = 0.010), and CM consumption (OR = 2.50, [95% CI: 1.20–5.21], p = 0.014) increased the risk of MS, while performing hajj (OR = 0.47, [95% CI: 0.34–0.67], p = 0.001), TB infection (OR = 0.29, [95% CI: 0.11–0.78], p = 0.015), face veiling (OR = 0.32, [95% CI: 0.23–0.47], p = 0.001), and coffee consumption (OR = 0.67, [95% CI: 0.49–0.89], p = 0.008) appeared to be associated with decreased risk. No association was found between fast food, processed meat, soft drinks, animal milk (other than camel), or RM consumption and the risk of MS. Conclusion: The results of this case-control study confirm that different means of tobacco smoking are associated with increased risk of MS. It also sheds more light on the complex association between infections and MS.