Prospective Matched Case-Control Study of Over-Early P100 Wave Latency in Migraine with Aura.

A sizable portion of the world's population suffers from migraines with aura. The purpose of this research is to describe the findings of a case-control study that was carried out to gain a better understanding of how migraine with aura manifests. The research looked at the P100 delay of the visual-evoked potential in both eyes of 92 healthy people and 44 patients who suffered from migraines with visual aura. All of the participants in the study were recruited from King Fahad University Hospital in Saudi Arabia. Both sets of people had the same ancestry and originated from the same location. Patients who suffered from migraines with aura exhibited a significantly shorter P100 delay in both eyes compared to healthy controls (p = 0.001), which is evidence that their early visual processing was distinct. In order to arrive at these findings, we compared people who suffer from migraines with aura to people who do not suffer from migraines and used them as subjects. These findings contribute to the ongoing attempts to bring the disease under control and provide vitally significant new information regarding the functioning of headaches with auras. The primary focus of study in the future should be on determining the nature of the connection between issues with early visual processing and headaches with aura.

Association between glycated hemoglobin and functional outcomes in patients with intracranial large artery atherosclerotic disease-related acute ischemic stroke: identifying the magic number.

Objective: This study aimed to investigate the effect of the glycated hemoglobin A1c (HbA1c) level on the functional outcome (FOC) in patients with intracranial large artery atherosclerotic disease (ICLAD)-related acute ischemic stroke (AIS). Methods: This retrospective study enrolled patients with ICLAD-related AIS who were admitted to King Fahd University Hospital between January 2017 and September 2021. Patients were divided into two groups based on the optimal cutoff HbA1c level determined using receiver operating characteristic curve analysis-those with HbA1c ≤6.9% and those with HbA1c >6.9%. Demographic and other clinical characteristics were compared between the two groups using chi-square tests. The association between HbA1c and 90-day FOC was assessed using the chi-square test and odds ratios (ORs). Multivariate analysis was performed to adjust for confounding factors. Results: A total of 140 patients were included in the analysis. A significant association was observed between the HbA1c level and FOC. Compared to patients with HbA1c ≤6.9%, patients with HbA1c >6.9% were more likely to have an unfavorable FOC [p = <0.001, OR = 2.05, 95% confidence interval (CI) = 1.33-3.14]. The association between HbA1c >6.9% and unfavorable FOC was sustained even after adjusting for confounding factors (p = 0.008) and atherosclerosis risk factors (p = 0.01). HbA1c >6.9% was also associated with higher ORs for in-hospital complications (p = 0.06, OR = 1.34, 95% CI = 1.02-1.77) and mortality (p = 0.07, OR = 1.42, 95% CI = 1.06-1.92) although these associations did not attain significant p-values. Conclusion: HbA1c >6.9% was significantly associated with unfavorable FOC in ICLAD-related AIS. However, further studies with larger sample sizes are required to verify whether HbA1c is an independent predictor of poor FOC. Nevertheless, targeting HbA1c <7% should be the goal of physicians when managing patients at high risk of ICLAD.

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Ischemic stroke represents a significant societal burden across the globe. Rare high penetrant monogenic variants and less pathogenic common single nucleotide polymorphisms (SNPs) have been described as being associated with risk of diseases. Genetic studies in Saudi Arabian patients offer a greater opportunity to detect rare high penetrant mutations enriched in these consanguineous populations. We performed whole exome sequencing on 387 ischemic stroke subjects from Saudi Arabian hospital networks with up to 20,230 controls from the Saudi Human Genome Project and performed gene burden analyses of variants in 177 a priori loci derived from knowledge-driven curation of monogenic and genome-wide association studies of stroke. Using gene-burden analyses, we observed significant associations in numerous loci under autosomal dominant and/or recessive modelling. Stroke subjects with modified Rankin Scale (mRSs) above 3 were found to carry greater cumulative polygenic risk score (PRS) from rare variants in stroke genes (standardized PRS mean > 0) compared to the population average (standardized PRS mean = 0). However, patients with mRS of 3 or lower had lower cumulative genetic risk from rare variants in stroke genes (OR (95%CI) = 1.79 (1.29-2.49), p = 0.0005), with the means of standardized PRS at or lower than 0. In conclusion, gene burden testing in Saudi stroke populations reveals a number of statistically significant signals under different disease inheritance models. However, interestingly, stroke subjects with mRS of 3 or lower had lower cumulative genetic risk from rare variants in stroke genes and therefore, determining the potential mRS cutoffs to use for clinical significance may allow risk stratification of this population.

Exome-wide analysis identify multiple variations in olfactory receptor genes (OR12D2 and OR5V1) associated with autism spectrum disorder in Saudi females.

Background: Autism Spectrum Disorder (ASD) is a multifactorial, neurodevelopmental disorder, characterized by deficits in communication, restricted and repetitive behaviors. ASD is highly heritable in Saudi Arabia; indecencies of affected individuals are increasing. Objectives: To identify the most significant genes and SNPs associated with the increased risk of ASD in Saudi females to give an insight for early diagnosis. Methods: Pilot case-control study mostly emphasized on the significant SNPs and haplotypes contributing to Saudi females with ASD patients (n = 22) compared to controls (n = 51) without ASD. With the use of allelic association analysis tools, 243,345 SNPs were studied systematically and classified according to their significant association. The significant SNPs and their genes were selected for further investigation for mapping of ASD candidate causal variants and functional impact. Results: In females, five risk SNPs at p ≤ 2.32 × 10-05 was identified in association with autism. The most significant exonic variants at chromosome 6p22.1 with olfactory receptor genes (OR12D2 and OR5V1) clustered with high linkage disequilibrium through haplotyping analysis. Comparison between highly associated genes (56 genes) of male and female autistic patients with female autistic samples revealed that 39 genes are unique biomarkers for Saudi females with ASD. Conclusion: Multiple variations in olfactory receptor genes (OR5V1 and OR12D2) and single variations on SPHK1, PLCL2, AKAP9 and LOC107984893 genes are contributing to ASD in females of Arab origin. Accumulation of these multiple predisposed coding SNPs can increase the possibility of developing ASD in Saudi females.

The efficacy of new neuronal growth factor in the healing of the sciatic nerves in rabbits.

Background and Objective: Regeneration of nervous tissue is unpredictable and an ideal growth factor to influence the healing of the injured nerves is not available. A recent study in rats had shown that a new neuronal growth factor (NNGF) was effective in the early healing of the sciatic nerves. The aim of this experimental study is to test the efficacy of NNGF in the healing of iatrogenic division of the sciatic nerves in a larger animal (rabbits). Methods: White New Zealand 20 male rabbits of 6 months of age were divided into two groups. Intramuscular ketamine and xylazine were used to anesthetize the animals. The sciatic nerves were divided using scalpel blade 15 and 10/0 Vicryl was used to repair the divided neural tissue. In the study group, 10 mg/kg body weight of NNGF was instilled on the top of the divided nerves and the wound was closed. At 4 weeks, the operated limbs were observed for any trophic skin changes. Nerve conduction studies were carried out using train-of-four-Watch SX, Organon (Ireland) Ltd., and Ireland. The rabbits were put to death humanely and the sciatic nerves were removed and delivered to the pathologist in 2% formalin. The pathologists were blinded about the two groups. Results: Electromyographic study done at 4 weeks showed in the untreated group; the mean twitches 1-T4 was 0.45 ± 0.31% and in the treated group, the average was 77.912 ± 5% (P > 0.001). Microscopic anatomy in the treated group revealed prominent healing by regeneration was evidenced by showing growth of its proximal segments into an empty endoneurial tube which was not seen in the control group. In the control group, the nerves showed no histological element of healing by regeneration. Conclusions: NNGF proves that in a larger animal at 4 weeks profoundly influenced early regeneration of experimentally created divisions of myelinated nerve tissue.

Résumé Contexte et objectif: La régénération des tissus nerveux est imprévisible et un facteur de croissance idéal pour influencer la guérison des nerfs blessés n'est pas disponible. Une étude récente chez le rat a montré qu'un nouveau facteur de croissance neuronal (NNGF) était efficace dans la guérison précoce des nerfs sciatiques. L'objectif de cette étude expérimentale est de tester l'efficacité du NNGF dans la guérison de la division iatrogène des nerfs sciatiques chez un animal plus grand (lapin). Méthodes: White New Zealand 20 lapins mâles de 6 mois ont été divisés en deux groupes. La kétamine intramusculaire et la xylazine ont été utilisées pour anesthésier les animaux. Les nerfs sciatiques ont été divisés en utilisant la lame scalpel 15 et 10/0 vicryl ont été utilisés pour réparer le tissu neural divisé. Dans le groupe d'étude, 10 mg / kg de poids corporel du NNGF ont été inculqués sur le dessus des nerfs divisés et la plaie a été fermée. À 4 semaines, les membres opérés ont été observés pour tout changement de peau trophique. Des études de conduction nerveuse ont été menées à l'aide de SX Train-of-Nat-Watch, Organon (Ireland) Ltd. et Ireland. Les lapins ont été mis à mort avec humanité et les nerfs sciatiques ont été retirés et livrés au pathologiste dans 2% de formol. Les pathologistes ont été aveuglés sur les deux groupes. Résultats: électromyographique L'étude réalisée à 4 semaines a montré dans le groupe non traité; Les contractions moyennes 1 à T4 étaient de 0,45 ± 0,31% et dans le groupe traité, la moyenne était de 77,912 ± 5% (p> 0,001). L'anatomie microscopique dans le groupe traité a révélé une guérison importante par régénération a été mise en évidence en montrant la croissance de ses segments proximaux dans un tube endoneurial vide qui n'a pas été observé dans le groupe témoin. Dans le groupe témoin, les nerfs n'ont montré aucun élément histologique de guérison par régénération. Conclusions: NNGF prouve que chez un animal plus grand à 4 semaines, a profondément influencé la régénération précoce des divisions créées expérimentalement du tissu nerveux myélinisé. Mots-clés: Facteurs de croissance, régénération nerveuse, nerfs sciatiques.

Integration of Transcriptome and Exome Genotyping Identifies Significant Variants with Autism Spectrum Disorder.

Autism is a complex disease with genetic predisposition factors. Real factors for treatment and early diagnosis are yet to be defined. This study integrated transcriptome and exome genotyping for identifying functional variants associated with autism spectrum disorder and their impact on gene expression to find significant variations. More than 1800 patients were screened, and 70 (47 male/23 female) with an average age of 7.56 ± 3.68 years fulfilled the DSM-5 criteria for autism. Analysis revealed 682 SNPs of 589 genes significantly (p < 0.001) associated with autism among the putative functional exonic variants (n = 243,345) studied. Olfactory receptor genes on chromosome 6 were significant after Bonferroni correction (α = 0.05/243345 = 2.05 × 10-7) with a high degree of linkage disequilibrium on 6p22.1 (p = 6.71 × 10-9). The differentially expressed gene analysis of autistic patients compared to controls in whole RNA sequencing identified significantly upregulated (foldchange ≥0.8 and p-value ≤ 0.05; n = 125) and downregulated (foldchange ≤-0.8 and p-value ≤ 0.05; n = 117) genes. The integration of significantly up- and downregulated genes and genes of significant SNPs identified regulatory variants (rs6657480, rs3130780, and rs1940475) associated with the up- (ITGB3BP) and downregulation (DDR1 and MMP8) of genes in autism spectrum disorder in people of Arab ancestries. The significant variants could be a biomarker of interest for identifying early autism among Arabs and helping to characterize the genes involved in the susceptibility mechanisms for autistic subjects.

Prevalence of CYP2C19*2 carriers in Saudi ischemic stroke patients and the suitability of using genotyping to guide antiplatelet therapy in a university hospital setup.

OBJECTIVES: To mitigate the incidence of recurrent stroke in patients, dual antiplatelet therapy comprising aspirin and clopidogrel is usually administered. Clopidogrel is a prodrug and its bioactivation is catalyzed by cytochrome P450 (CYP)2C19. The main objective of this work was to determine the prevalence of CYP2C19*2 carriers in Saudi ischemic stroke patients and assess the suitability of using genotyping to guide antiplatelet therapy in a university hospital setup. METHODS: This prospective (2018-2019) study was conducted on 256 patients (age 61 ± 12.5) clinically diagnosed with ischemic stroke who were genotyped using Spartan RX CYP2C19 assay. RESULTS: From the total patient group (256), upon admission, 210 patients were prescribed either aspirin, clopidogrel or dual antiplatelet therapy. Of the 27 patients with the CYP2C19*2 allele who were prescribed clopidogrel (18) or dual antiplatelet therapy (9), only 21 patients could be followed up for a period of six months post stroke event, in addition to 21 age- and sex-matched patients with the normal allele. The CYP2C19*2 allele carriers had a statistically significant increased risk of recurrent stroke compared to patients carrying the normal allele. CONCLUSIONS: This study shows the suitability of using genotyping to guide antiplatelet therapy in ischemic stroke patients in a clinical setting.

Prevalence of CYP2C19*2 carriers in Saudi ischemic stroke patients and the suitability of using genotyping to guide antiplatelet therapy in a university hospital setup.

OBJECTIVES: To mitigate the incidence of recurrent stroke in patients, dual antiplatelet therapy comprising aspirin and clopidogrel is usually administered. Clopidogrel is a prodrug and its bioactivation is catalyzed by cytochrome P450 (CYP)2C19. The main objective of this work was to determine the prevalence of CYP2C19*2 carriers in Saudi ischemic stroke patients and assess the suitability of using genotyping to guide antiplatelet therapy in a university hospital setup. METHODS: This prospective (2018-2019) study was conducted on 256 patients (age 61 ± 12.5) clinically diagnosed with ischemic stroke who were genotyped using Spartan RX CYP2C19 assay. RESULTS: From the total patient group (256), upon admission, 210 patients were prescribed either aspirin, clopidogrel or dual antiplatelet therapy. Of the 27 patients with the CYP2C19*2 allele who were prescribed clopidogrel (18) or dual antiplatelet therapy (9), only 21 patients could be followed up for a period of six months post stroke event, in addition to 21 age- and sex-matched patients with the normal allele. The CYP2C19*2 allele carriers had a statistically significant increased risk of recurrent stroke compared to patients carrying the normal allele. CONCLUSIONS: This study shows the suitability of using genotyping to guide antiplatelet therapy in ischemic stroke patients in a clinical setting.

Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study.

Autism is heterogeneous multifactorial neurodevelopmental and neuropsychiatric disorder with repetitive and limited behaviors as well as communication deficits. Prevalence of autism in males is predominant than females, but their genetic association is unclear. The study was performed to investigate Y-chromosome haplotypes, significant risk variants and susceptibility genes associated with autistic Saudi young males with autism. Exome genotyping microarray analysis was performed in Saudi young boys with autism (cases, n = 47) and without autism and other genetic or neurodevelopmental disorders (control, n = 43) to identify the functional exonic risk variations among 243,345 exonic variations. The most significant single nucleotide polymorphisms (SNPs) of protein coding associated with autism in Saudi young boys were studied for functional enrichment. Y-chromosome haplotyping analysis of 6 SNPs such as rs1865680, rs2032624, rs2032658, rs2032631, rs9786153 and rs13447352 uncovered the most significant protective (ACGACA p = 2.94 × 10-9) among the controls and the high risk Y-haplotype (GAAGTC p = 6.85 × 10-6) among autistic boys. Exome association study revealed 6 susceptible genes, MCC, AUTS2, VSX1, SETBP1, CNTN3, and PCDH11Y that were known for autistic disorder. The significant predisposed genes with functional variants of Y-chromomere are strongly connected with spermatogenic failure (p = 8.02 × 10-8), azoospermia (p = 6.32 × 10-7), partial chromosome Y deletion (p = 7.66 × 10-6), HDMs demethylate histones pathway (p = 3.55 × 10-4) and immune system diseases (p = 4.11 × 10-3). Y-haplotypes and highly significant pathogenic exonic variants in MCC, AUTS2, VSX1, SETBP1, CNTN3 and PCDH11Y genes are more influential genetic factors for developing autism in boys of Arab origin.

Idiopathic Hypertrophic Spinal Pachymeningitis: A Diagnostic Challenge: A Case Report and Review of the Literature.

Idiopathic hypertrophic pachymeningitis (IHP) can resemble other disorders associated with spinal compression. It is a rare inflammatory fibrosing disease of the dura of unidentified etiology and is considered a diagnosis of exclusion. We present a case of idiopathic hypertrophic spinal pachymeningitis occupying a long segment of cervical dura. This is a case of 38-year-old female patient, who suffered progressive neck pain for 2-year duration. Examination revealed spasticity in all four limbs, plus three symmetric reflexes all over, and the sensory level at T4. Magnetic resonance imaging showed spinal cord compression by a thickened anterior and posterior dura adjacent to the cord from C2 to C7. The diagnosis of spinal IHP was confirmed through biopsy. The patient improved after treatment with corticosteroids. Early surgical intervention with postoperative corticosteroid therapy is a known treatment for this disease, as a way to prevent irreversible neurological damage.

A Case Report of Intraparenchymal Neurocysticercosis in a Postpartum Female in Saudi Arabia.

Neurocysticercosis is a neurologic disease caused by infection with larvae of Taenia solium. It is most commonly transmitted by consumption of pork, water contaminated with T. solium or poor hygiene habits. As only few cases of neurocysticercosis have been documented in Saudi Arabia, the authors report a case of neurocysticercosis in a young Indian female residing in Saudi Arabia who presented with generalized tonic-clonic seizures 6 days after a normal vaginal delivery. Her physical and laboratory investigations as well as chest X-ray and electroencephalogram were all normal. Computed tomography of the head revealed multiple calcified nodular lesions, and magnetic resonance imaging showed ring-enhancing lesion in the left frontoparietal area. Serum enzyme-linked immunosorbent assay (qualitative) was positive for immunoglobulin G antibodies for cysticercosis. A diagnosis of neurocysticercosis was made, and the patient was treated with dexamethasone and levetiracetam for 4 days before discharge. At the 3-month follow-up, the patient's condition had significantly improved, and her seizures had not recurred. This report recommends considering neurocysticercosis as a differential diagnosis in patients presenting with new-onset seizures, even if the symptoms do not initially indicate neurocysticercosis or if the patient resides in an area where the disease is rare.

TNFSF/TNFRSF cytokine gene expression in sickle cell anemia: Up-regulated TNF-like cytokine 1A (TL1A) and its decoy receptor (DcR3) in peripheral blood mononuclear cells and plasma.

BACKGROUND: Sickle cell anemia (SCA), a disorder with an important inflammatory component, where vasoocclusion is major contributor to the disease pathophysiology. Pro-inflammatory cytokines play an important regulatory role in the process of inflammation. We investigated the expression TL1A/DR3/DcR3 cytokine signaling pathway in peripheral blood mononuclear cells (PBMC) and their corresponding plasma levels in SCA subjects who presented with acute painful episodes. MATERIALS AND METHODS: PBMC were isolated from the blood of SCA subjects and normal healthy controls. RNA isolated from PBMC was used for real time gene expression of TL1A/DR3/DcR3. Gene expression was compared in subgroups within SCA subjects with co-inherited fetal hemoglobin (HbF) or alpha-globin gene deletions. Plasma prepared from blood was used for determination of TL1A/DR3/DcR3 proteins by ELISA assays. RESULTS: In the PBMC of SCA subjects, expression of TL1A and DcR3 is elevated, while DR3 expression is lowered in comparison to normal control PBMC. In SCA subjects with HbF > 10%, TL1A/DcR3 expression is lower, while HbF < 10% is associated with increased TL1A/DcR3 expression. Moreover, subjects with HbF > 10% appear to have significantly fewer pain episodes in comparison to those with HbF < 10%. Deletion of alpha-globin genes appears to have no significant effect on TL1A/DR3/DcR3 expression. Circulating levels of TL1A, DR3 and DcR3 in plasma were significantly elevated in SCA subjects. CONCLUSIONS: Elevated TL1A and DcR3 expression in PBMC of SCA subjects during painful vasoocclusive crisis, suggest an altered TL1A expression may contribute to the pathophysiology of vasoocclusive crisis in SCA. HbF > 10% appears to moderate TL1A elevation, while HbF < 10% exacerbates TL1A/DcR3 responses. Furthermore, subjects with HbF > 10% have significantly lower pain episodes reported as compared to subjects with HbF < 10%.

Psychometric properties of an Arabic version of the fatigue severity scale in patients with stroke.

Background: Post-stroke fatigue is a common symptom which needs to be assessed by a psychometrically sound tool. Objectives: To investigate the psychometric properties of an Arabic version of the fatigue severity scale (FSS-A) in patients with stroke. Methods: An observational, cross-sectional design was applied to 147 survivors of first-time stroke and 70 healthy participants. Internal consistency was measured by Cronbach's α, while test-retest reliability was measured by intraclass correlation coefficients (ICCs). To assess validity, the FSS-A was correlated with the Fatigue Visual Analogue Scale (VAS-F), the Short Form 36 (SF-36) and its vitality domain (SF-36V), the stroke specific quality of life (SSQOL-A) and its energy domain (SSQOL-A-E), and the Beck Depression Inventory II (BDI-II). Results: The FSS-A showed excellent internal consistency (Cronbach's α = 0.934) and test-retest reliability (ICC = 0.920, 95% confidence interval (CI): 0.85-0.96). Exploratory factor analysis confirmed that the FSS-A is unidimensional. The FSS-A had high positive correlation with VAS-F, moderate positive correlation with BDI-II, high negative correlation with SSQOL-A-E and moderate negative correlations with SF-36, SF-36V, and SSQOL-A. It differentiated patients from healthy participants with a sensitivity of 78.4% and a specificity of 77.1%. The minimal detectable change with 95% CI was 1.02 (22.4%). Conclusions: The FSS-A showed good psychometric properties suggesting its usefulness as a fatigue evaluation tool in patients diagnosed with stroke.

Etiologic and Clinical Features of Cerebral Venous Sinus Thrombosis in Saudi Arabia.

OBJECTIVE: Our study aims to evaluate the etiologic and clinical features of cerebral venous sinus thrombosis (CVST) in Saudi Arabia, and secondarily whether gender plays a role in CVST. MATERIALS AND METHODS: Data were collected retrospectively from the stroke registry during the period from January 2008 to April 2018, and the patients with the diagnosis of CVST were identified, and data were analyzed for any gender-specific differences in clinical presentation and etiology of cerebral venous thrombosis. RESULTS: There were 15 females while 11 males with a female:male ratio of 1.4:1. The mean age was 29.4± standard deviation 8.9 with the age range of 15-49. Headache was the most common and usually the first presenting symptoms present in 65% followed by hemiparesis and cranial nerve palsies. The first neurological examination was normal in 9/26 (34.6%) of the patients, while the common abnormality was cranial nerve palsies. Infections and trauma played an important part in risk factor analysis of our patient after the pregnancy- and hormone-related conditions. Some significant differences between the clinical presentation and risk factors among males and females were noted as age at presentation was higher in females while trauma and infections were common in male patients, although the involvement of the sinuses and response to treatment did not prove to be statistically significant. CONCLUSION: The results of this study were similar to the available literature with few differences. The relatively higher proportion of males in our study can be explained partly with more cases of traumatic CVST. Some important differences were noted between the risk factors and clinical presentation among genders. Large-scale prospective studies are needed to further clarify these differences.

Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies.

One of the most common neurodevelopmental disorders worldwide is autism spectrum disorder (ASD), which is characterized by language delay, impaired communication interactions, and repetitive patterns of behavior caused by environmental and genetic factors. This review aims to provide a comprehensive survey of recently published literature on ASD and especially novel insights into excitatory synaptic transmission. Even though numerous genes have been discovered that play roles in ASD, a good understanding of the pathophysiologic process of ASD is still lacking. The protein⁻protein interactions between the products of NLGN, SHANK, and NRXN synaptic genes indicate that the dysfunction in synaptic plasticity could be one reason for the development of ASD. Designing more accurate diagnostic tests for the early diagnosis of ASD would improve treatment strategies and could enhance the appropriate monitoring of prognosis. This comprehensive review describes the psychotropic and antiepileptic drugs that are currently available as effective pharmacological treatments and provides in-depth knowledge on the concepts related to clinical, diagnostic, therapeutic, and genetic perspectives of ASD. An increase in the prevalence of ASD in Gulf Cooperation Council countries is also addressed in the review. Further, the review emphasizes the need for international networking and multidimensional studies to design novel and effective treatment strategies.

Nonadherence to Antiepileptic Medications: Still a Major Issue to be Addressed in the Management of Epilepsy.

CONTEXT: Medication nonadherence is a significant barrier in achieving seizure freedom in patients with epilepsy. There is a deficiency of data about the reasons for nonadherence in Saudi population. AIMS: The aim of this study is to prove the existence of nonadherence to antiepileptic drugs (AEDs) in patients with epilepsy and identify the responsible factors. SETTING AND DESIGN: This is a prospective, cross-sectional study carried in the Department of Neurology at King Fahd Hospital of the University affiliated with Imam Abdulrahman Bin Faisal University. SUBJECTS AND METHODS: Patients of all ages diagnosed to have epilepsy as mentioned in their medical record and taking antiepileptic medications were interviewed using a questionnaire. STATISTICAL ANALYSIS USED: Statistical analysis was performed using IBM Statistical Package for the Social Sciences version 21 (IBM Corp., Armonk, NY, USA). Statistical significance was defined as two-tailed with a P ≤ 0.05. RESULTS: Among 152 participants, 52.6% were male and 47.4% were female. Mean age of the patients was 28 ± 14.3 (mean ± standard deviation) years. Of 152 patients, 48.7% were found to be nonadherent to their AED therapy. The most commonly identified factor was forgetfulness. Nonadherence was significantly associated with poor seizure control (P = 0.002). CONCLUSION: Nonadherence to the AED is common among patients with epilepsy and affects seizure control adversely.

Association of epidermal growth factor receptor protein expression with histopathological and clinical parameters in carcinoma of the larynx.

BACKGROUND: Laryngeal cancer is one of the most commonly occurring cancers in head and neck malignancies with the majority of tumors being squamous cell carcinomas. Despite sharing similarities with other head and neck tumors, laryngeal tumors require a special approach in treatment due to the need for organ preservation. Non-surgical procedures, including chemotherapy, radiotherapy and novel targeted therapies are alternative options. However, the selection of appropriate treatment modality is crucial for recurrence-free survival. With the availability of targeted therapies, the biomarker expression pattern has become a vital tool in the selection of treatment and prognosis. The present study aims to study the variation of protein [epidermal growth factor receptor (EGFR), phosphatase and tensin homolog (PTEN) and p16INK4] expression and human papillomavirus (HPV) infection status in larynx carcinoma patients and correlate it with histopathological and clinical parameters. METHODS: This is a retrospective study comprising laryngeal carcinoma tumor samples from 18 patients. The samples were analyzed for EGFR, PTEN and p16INK4 expression by immunohistochemistry and HPV status by chromogenic in-situ hybridization (CISH). RESULTS: The EGFR over expression was observed in the 83.3% of patients. This high EGFR expression was associated with lymph node positivity (P=0.045) and advanced disease stage (P=0.035). Furthermore, the smoking status of the patients is correlated with a better prognosis (P=0.048). The PTEN was negatively expressed in 94.4% patients. CONCLUSIONS: The association of EGFR over expression with lymph node status and advanced stage of the disease supports the role that EGFR plays in the tumor metastasis and invasion in laryngeal carcinoma patients. Therefore, the use of anti-EGFR targeted therapy in cases of laryngeal carcinoma may improve the prognosis of these patients. The other studied proteins p16INK4, PTEN and HPV infection did not show any correlation with prognosis and other clinical parameters.

Tumefactive multiple sclerosis masquerade as a central nervous system tumor: a case report.

INTRODUCTION: Tumefactive multiple sclerosis is a demyelinating disorder that appears tumor-like on MRI. To most physicians, diagnosing tumefactive MS by applying clinical, radiological, or laboratory examination like Cerebrospinal fluid (CSF) analysis, can be challenging and ultimately biopsy is necessary to confirm the diagnosis. CASE PRESENTATION: This paper reports a case of a 37-year-old woman who presented with progressive headache and a strong family history of cancer and was misdiagnosed as having a CNS glioma. After considering the MRI features, CSF analysis results and observing improvement with IV steroids, the diagnosis of tumefactive MS was made. The patient refused biopsy to rule out the possibility of tumor or abscess. Nine months later, she presented with another relapse and an injectable disease modifying treatment (DMT) was initiated, and her course has been stable in follow up. TAKE-AWAY LESSON: The overall clinical importance of this case report is to highlight the real possibility of being forced to decide between Tumefactive demyelinating lesions (TDLs) and brain tumors in clinical practice, in order to avoid unnecessary biopsy.

The sensitivity and specificity of the neurological examination in polyneuropathy patients with clinical and electrophysiological correlations.

INTRODUCTION: Polyneuropathy is one of the most prevalent neurologic disorders. Although several studies explored the role of the neurological examination in polyneuropathy, they were mostly restricted to specific subgroups of patients and have not correlated examination findings with symptoms and electrophysiological results. OBJECTIVES: To explore the sensitivity and specificity of different neurological examination components in patients with diverse etiologies for polyneuropathy, find the most sensitive combination of examination components for polyneuropathy detection, and correlate examination findings with symptoms and electrophysiological results. METHODS: Patients with polyneuropathy attending the neuromuscular clinic from 01/2013 to 09/2015 were evaluated. Inclusion criteria included symptomatic polyneuropathy, which was confirmed by electrophysiological studies. 47 subjects with no symptoms or electrophysiological findings suggestive for polyneuropathy, served as controls. RESULTS: The total cohort included 312 polyneuropathy patients, with a mean age of 60±14 years. Abnormal examination was found in 95%, most commonly sensory findings (86%). The most common abnormal examination components were impaired ankle reflexes (74%), vibration (73%), and pinprick (72%) sensation. Combining ankle reflex examination with vibration or pinprick perception had the highest sensitivity, of 88%. The specificities of individual examination component were generally high, excluding ankle reflexes (62%), and vibration perception (77%). Abnormal examination findings were correlated with symptomatic weakness and worse electrophysiological parameters. CONCLUSION: The neurological examination is a valid, sensitive and specific tool for diagnosing polyneuropathy, and findings correlate with polyneuropathy severity. Ankle reflex examination combined with either vibration or pinprick sensory testing is the most sensitive combination for diagnosing polyneuropathy, and should be considered minimal essential components of the physical examination in patients with suspected polyneuropathy.

Repetitive nerve stimulation cutoff values for the diagnosis of myasthenia gravis.

INTRODUCTION: Repetitive nerve stimulation (RNS) showing ≥ 10% decrement is considered the cutoff for myasthenia gravis (MG), but this has never been validated. The objective of this study was to find an optimal validated cutoff value for decrement on RNS. METHODS: We performed retrospective chart review of patients who had electrophysiological assessment for possible MG from 2013 to 2015. RESULTS: A total of 122 patients with MG and 182 controls were identified. RNS sensitivities for generalized and ocular MG using the traditional ≥10% cutoff value were 46% and 15%, respectively, for frontalis recordings, and 35% and 19%, respectively, for nasalis recordings. Using a decrement cutoff value of 7% for frontalis and 8% for nasalis increased the sensitivities by 6-11%, with specificities of 95-96%. CONCLUSIONS: For RNS in facial muscles, we suggest a cutoff value of 7-8%, which increases test sensitivity by 6-11%, while preserving high specificity for the diagnosis of MG. Muscle Nerve, 2016 Muscle Nerve 55: 166-170, 2017.