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1.
Biomedicines ; 11(11)2023 Nov 06.
Artículo en Inglés | MEDLINE | ID: mdl-38001979

RESUMEN

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.

2.
Funct Integr Genomics ; 23(2): 102, 2023 Mar 27.
Artículo en Inglés | MEDLINE | ID: mdl-36973604

RESUMEN

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.


Asunto(s)
Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Humanos , Secuenciación del Exoma , Arabia Saudita , Estudio de Asociación del Genoma Completo , Factores de Riesgo , Accidente Cerebrovascular/genética , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/epidemiología , Predisposición Genética a la Enfermedad
3.
Drug Metab Pers Ther ; 2021 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-34237806

RESUMEN

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.

4.
Drug Metab Pers Ther ; 37(1): 35-40, 2021 07 08.
Artículo en Inglés | MEDLINE | ID: mdl-35385889

RESUMEN

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.


Asunto(s)
Citocromo P-450 CYP2C19 , Accidente Cerebrovascular Isquémico , Inhibidores de Agregación Plaquetaria , Anciano , Aspirina/uso terapéutico , Clopidogrel/uso terapéutico , Citocromo P-450 CYP2C19/genética , Genotipo , Hospitales , Humanos , Accidente Cerebrovascular Isquémico/tratamiento farmacológico , Accidente Cerebrovascular Isquémico/genética , Persona de Mediana Edad , Inhibidores de Agregación Plaquetaria/uso terapéutico , Prevalencia , Estudios Prospectivos , Arabia Saudita/epidemiología
5.
Clin EEG Neurosci ; 51(6): 420-425, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32483980

RESUMEN

OBJECTIVE: The objective of this work was to study the electroencephalographic (EEG) grading of neuronal dysfunction in encephalopathy of various etiologies and assess their association with clinical outcomes. SUBJECTS AND METHODS: This retrospective cross-sectional study was performed between June and November 2018 at the Neurology Department of King Fahd Hospital of University, Kingdom of Saudi Arabia (KSA) and involved a review and analysis of EEG and medical records pertaining to 222 patients in whom encephalopathy was diagnosed. RESULTS: In patients suffering from encephalopathy, advanced age (P = .01), low Glasgow Coma Scale (GCS) scores (P = .00), and certain etiologies, namely hypoxic-ischemic encephalopathy (HIE) (P = .00), septic encephalopathy (P = .01), and other illnesses (P = .00), were significantly associated with unfavorable clinical outcomes, whereas traumatic brain injury (TBI) (P = .01) and GCS >7 (P = .00) were associated with favorable outcomes. Among different etiologies, EEG grade I (P = .02) and grade IV (P = .04) neuronal dysfunction was significantly associated with TBI while grade III (P = .05) and grade V (P = .02) neuronal dysfunction was significantly associated with HIE. Grade I (P = .03) neuronal dysfunction was mostly observed in septic encephalopathy cases, while patients suffering from other illnesses were also found to have grade I (P = .04) and grade IV (P = .05) neuronal dysfunction based on their EEG. CONCLUSION: EEG is being conducted routinely to determine the course and severity of various forms of encephalopathy. However, the clinical implications of EEG grading for neuronal dysfunction are largely dependent on underlying etiology and other clinical parameters, such as age and GCS score. Further larger prospective cohort studies involving other important prognostic parameters and continuous EEG monitoring are thus needed.


Asunto(s)
Electroencefalografía , Hipoxia-Isquemia Encefálica , Estudios Transversales , Humanos , Pronóstico , Estudios Prospectivos , Estudios Retrospectivos
6.
Neurosciences (Riyadh) ; 24(1): 22-28, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30842396

RESUMEN

OBJECTIVE: To study the frequency of multiple vascular risk factors and electrophysiological severity of carpal tunnel syndrome (CTS) in Saudi diabetic patients. METHODS: This retrospective cross-sectional study was conducted in Neurology Department, King Fahd Hospital of University, Al-Khobar, Kingdom of Saudi Arabia from April 2017 to March 2018 and included 200 patients with CTS. Body parameters, such as blood pressure (BP), weight, height, and body mass index (BMI), along with laboratory and median nerve electrophysiological parameters, of diabetic and non-diabetic patients were compared, and a p-value<0.05 was considered significant. RESULTS: Frequency of hypertension (HTN) and obesity was significantly higher in diabetic patients (p<0.05). Mean median nerve sensory amplitude (MNSA) was lower in diabetic patients (p<0.05).Non-recordable nerves, as well as bilateral and extremely severe CTS (p<0.05), were more frequently seen in diabetic patients. Age, BMI, systolic BP, low serum high density lipoprotein (HDL), high triglycerides, high fasting blood sugar, and high glycated hemoglobin (Hba1c) levels, known to affect the electrophysiological severity of CTS, had a statistically significant association with diabetes. CONCLUSION: Diabetes mellitus (DM) and obesity are the most commonly identified risk factors of CTS. Dyslipidemia, HTN and obesity are more frequently seen in diabetic patients with CTS. These concurrent risk factors are confounding the electrophysiological severity of CTS in these patients. Further larger-scale studies with the control of confounding factors are recommended.


Asunto(s)
Síndrome del Túnel Carpiano/patología , Complicaciones de la Diabetes/patología , Adulto , Anciano , Anciano de 80 o más Años , Síndrome del Túnel Carpiano/epidemiología , Complicaciones de la Diabetes/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Conducción Nerviosa , Prevalencia , Arabia Saudita
7.
Neurosciences (Riyadh) ; 23(3): 223-226, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-30007998

RESUMEN

OBJECTIVE: To identify the types of seizures and describe the clinical features, EEG and radiological findings among patients with epilepsy. METHODS: In this retrospective epidemiological study, we analyzed the medical records of the patients with the diagnosis of epilepsy during the study period (January 1st 2016- December 2016) RESULTS: The study included 184 patients, 91 (49.5%) were males and 93 (50.5%) females. Age ranged between 12 and 85 years (mean 35.4+/-19.5 SD years). Most of the patients 150 (82%) had Generalized tonic clonic seizures followed by focal onset in 27 (14%) of the patients. Main EEG abnormality was focal to bilateral was recorded in 53 (41%), idiopathic/ cryptogenic epilepsy was diagnosed in 61% of the patients. The most common abnormalities on brain imaging were temporal/hippocampal atrophy/stroke. The most common cause of symptomatic epilepsy was stroke found in 20(11%) followed by post infectious epilepsy and head trauma. CONCLUSION: Seizure types, EEG characteristics and etiologies of symptomatic epilepsy in our cohort of patients are in accordance with the current literature. Slight discrepancy observed in gender distribution and etiologies for symptomatic epilepsy compared with other studies from Saudi Arabia need to be studied further by prospective and population base studies.


Asunto(s)
Epilepsia/epidemiología , Centros de Atención Terciaria/estadística & datos numéricos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Arabia Saudita
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