Association of Multiple Sclerosis Phenotypes with Single Nucleotide Polymorphisms of IL7R, LAG3, and CD40 Genes in a Jordanian Population: A Genotype-Phenotype Study

It is thought that genetic variations play a vital role in the Multiple Sclerosis (MS) etiology. However, the role of genetic factors that influence the clinical features of MS remains unclear. We investigated the correlation between 21 single nucleotide polymorphisms within three genes (IL7R, LAG3, and CD40) and MS clinical characteristics in the Jordanian population. Blood samples and clinical phenotypic data were collected from 218 Arab Jordanian MS patients, vitamin D was measured, genomic DNA was extracted, and genotyping of the candidate genes’ polymorphisms were analyzed using the Sequenom MassARRAY® system. The association of these single nucleotide polymorphisms (SNPs) with MS was performed using a Chi-square, Fisher exact test, and one-way ANOVA. We found a significant association between vitamin D deficiency and three SNPs of the IL7R gene, namely rs987107 (P-value = 0.047), rs3194051 (P-value = 0.03), and rs1494571 (P-value = 0.036), in addition to two SNPs of CD40, namely rs1883832 and rs6074022 (P-value = 0.049 for both). rs3194051 of the IL7R gene (P-value = 0.003) and rs1922452 of the LAG3 gene (P-value = 0.028) were strongly associated with comorbidity. The number of relapses before drug onset was found to be correlated with IL7R SNPs rs969128 (P-value = 0.04) and rs1494555 (P-value = 0.027), whereas the expanded disability status scale (EDSS) was associated with rs1494555 polymorphism of IL7R gene (P-value = 0.026). Current findings indicate important correlations between certain SNPs and the risk of various phenotypes of multiple sclerosis in the Jordanian community. Therefore, this will not only contribute to the understanding of MS, but will also assist with the development of personalized treatment procedures

Convergent and criterion-related validity of the short form of the International Physical Activity and the Incidental and Planned Physical Activity Questionnaires in people with multiple sclerosis

BACKGROUND: Assessing physical activity (PA) in people with multiple sclerosis (PwMS) is essential to follow-up the recommended PA level. The International Physical Activity Questionnaire (IPAQ) and the Incidental and Planned Exercise Questionnaire (IPEQ) have been widely used, but their validity has not been investigated previously in PwMS. OBJECTIVE: This study aimed to assess the convergent and criterion validity of the IPAQ and the IPEQ in PwMS. METHODS: 50 PwMS were asked to wear an Actigraph for seven days and to fill the IPAQ and IPEQ. Sedentary, moderate (MPA), vigorous (VPA) and moderate to vigorous PA (MVPA) levels were recorded. RESULTS: Significant correlations were found between sitting time as reported by IPAQ and sedentary time as recorded by Actigraph (r = 0.41, p = 0.003), VPA by IPAQ and VPA as recorded by Actigraph (r = 0.46, p = 0.001), and MVPA by IPAQ and MVPA by Actigraph (r = 0.36, p = 0.011). IPEQ showed poor both criterion and convergent validity when compared to the Actigraph. Both IPAQ and IPEQ overestimate the intensities of PA for all the derived parameters. CONCLUSIONS: Findings of this study are important as they suggest that IPAQ in particular had convergent validity when compared to Actigraph data, but still had the problem of overestimating PA levels

Clinical, radiological, and electroencephalographic features of HHV-6 encephalitis following hematopoietic stem cell transplantation

To study the clinical, radiological, electroencephalographic, and cerebrospinal fluid (CSF) features of Human Herpes Virus 6 (HHV-6) encephalitis in leukemia patients underwent allogeneic hematopoietic stem cell transplantation (HSCT). We retrospectively reviewed all leukemia patients who underwent allogeneic HSCT between January 2010 and December 2018. The clinical, radiological, electroencephalographic, and CSF features of those with HHV6 encephalitis were recorded. A total of five cases of HHV6 encephalitis were identified. Three patients had Chronic Myelogenous Leukemia, one had Chronic Lymphocytic Leukemia and one had Acute Lymphoblastic Leukemia. All of them presented a few months after transplantation with altered mental status. Comorbidities included pancytopenia, sepsis, graft versus host disease, and multi-organ failure. EEG showed focal seizures originating from temporal lobes in two patients, generalized or focal periodic discharges in three patients, focal slowing in two patients, and diffuse slowing in three patients. MRI brain showed T2/FLAIR hyper-intensities in four patients; two of them in bilateral temporal lobes, one in the thalamus/hypothalamus/brainstem/cerebellum/basal ganglia, and one in the periventricular areas. CSF showed pleocytosis, high protein, and positive HHV-6 PCR. Foscarnet was used as an anti-viral agent. Anti-epileptics used were phenytoin, levetiracetam, and valproic acid. Four patients died in a few months, whereas one recovered completely. HHV-6 encephalitis can add significant morbidity and mortality to leukemic patients following allogeneic HSCT. Patients present with typical clinical features of encephalitis. Salient EEG characteristics include periodic discharges or overt temporal lobe seizures. MRI findings are T2/FLAIR signal hyperintensities, mainly in the temporal lobes. •HHV-6 encephalitis is a fatal complication of allogeneic hematopoietic stem cell transplantation (HSCT).•Common features include confusion, fever, headache, and seizures.•EEG can show focal or generalized periodic discharges or overt temporal lobe seizures.•MRI may show temporal lobe hyperintensities and diffusion restriction.•Starting Foscarnet and antiepileptic drugs as early as post HSCT patients develop confusion is recommended

Prevalence, Severity, and Predictors of Poststroke Depression in a Prospective Cohort of Jordanian Patients

Poststroke depression (PSD) is common and remains a significant risk factor for poor outcomes. This prospective study is aimed at assessing the prevalence, severity, and predictors of PSD among Jordanian stroke survivors. A total of 151 patients who were consequently admitted to a tertiary teaching hospital with ischemic or hemorrhagic strokes were enrolled. Participants were screened on admission for premorbid depression using the PHQ-9 questionnaire; then, screening for PSD was repeated one and three months after stroke using the same tool. Depression prevalence at each screening was reported, and logistic regression analysis was conducted to evaluate for significant predictors. PHQ-9 scores suggestive of depression were reported by 15%, 24.83%, and 17.39% of respondents on admission and after one and three months, respectively. Scores suggesting severe depression were reported by 0.71%, 2.13%, and 6.52% of respondents, respectively. Significant predictors of PSD were having chronic kidney disease, current smoking status, moderate or severe disability (mRS score) at stroke onset, and severe dependence (BI) after one month (p values 0.007, 0,002, 0.014, and 0.031, respectively). Patients with secondary and high school education levels were less likely to get depression compared with illiterate patients (p 0.042). This study showed that nearly one in four Jordanian stroke survivors experienced PSD after one month. In contrast, while the overall PSD prevalence declined towards the end of follow-up period, patients who remained depressed showed a tendency towards higher PSD severity

Epidemiology, Risk Factors, and Predictors of Disability in a Cohort of Jordanian Patients with the First Ischemic Stroke

Objective. To identify the risk factors, etiologies, length of stay, severity, and predictors of disability among patients with the first ischemic stroke in Jordan. Methods. A retrospective cohort study of 142 patients who were admitted to the Neurology Department at King Abdullah University Hospital between July/2017 and March/2018 with a first ischemic stroke. Etiology was classified according to the TOAST criteria. Severity was represented by NIHSS score, disability by mRS score, and prolonged length of stay as hospitalizations more than 75th percentile of the cohort’s median length of stay. Analysis of the sample demographics and descriptive statistics were done, including frequencies of prevalence of independent variables (risk factors) and frequencies of stroke and etiology work-up. Chi-square and univariate analysis of variance “ANOVA” were used to investigate the relationship between risk factors and type of stroke. Finally, logistic regression analysis was used to measure the contribution of each of the independent variables. IRB approval was obtained as necessary. Results. The mean age for the cohort was 66.5 years. The most common risk factors were hypertension (78.8%), diabetes mellitus (60.5%), and ischemic heart disease (29.4%). The most common stroke etiology was small-vessel occlusion (54.2%). Median length of stay was 4 days. Prolonged length of stay was observed in 23.23% of patients, which was associated with several factors, the most common of which were persistent dysphagia (57.5%), nosocomial infection (39.3%), and combined dysphagia and nosocomial infection (21.2%). The mean admission NIHSS score was 7.94, and on discharge was 5.76. In-hospital mortality was 2.81%, while 50% of patients had a favorable outcome on discharge (mRS score between 0-2). The mean discharge mRS score for the cohort was 2.47 (SD±1.79). Large artery atherosclerosis was associated with the highest residual disability with a mean score of 3.67 (SD±1.88), while the stroke of undetermined etiology was associated with the lowest residual disability with a mean score of 1.60 (SD±1.78). Significant predictors of mRS score were smoking (t 3.24, P<0.001), age (t 1.98, P<0.049), and NIHSS score (t 9.979, P 0.000). Conclusion. Ischemic strokes have different etiologies that are associated with different levels of impact on the patient’s clinical status and prognosis. Large artery atherosclerosis was associated with the highest residual disability. Regarding predictors of prognosis, current smoking status, age above 50, gender, and NIHSS on admission appear to be the strongest predictors of prognosis. Finally, higher NIHSS score on admission resulted in a longer hospital stay