Characteristics and outcomes of large artery occlusion-related stroke due to intracranial atherostenosis: An experience from a single center in Saudi Arabia.

BACKGROUND: Literature on the frequency, response to treatment, and outcomes of acute ischemic stroke (AIS) due to intracranial atherostenosis (ICAS)-related intracranial large artery occlusion (ILAO) from Saudi Arabia is scarce. The aim of this study was to identify the percentage, describe the characteristics, and observe the treatment response in patients with AIS attributed to ICAS-related ILAO. MATERIALS AND METHODS: This cross-sectional study included all adult patients from 2017-2021 who fulfilled the inclusion criteria for the diagnosis of ICAS-related AIS. Patients were dichotomized based on ILAO. Mortality and functional outcomes (FOCs) based on 90 days' dependence level were compared between the two groups. The association between ILAO and other variables was assessed using the Chi-squared test, odds ratios (OR), and 95% confidence interval (CI). RESULTS: ILAO was found in 38.7% of patients with ICAS-related AIS. Men comprised three-fourths of the cohort and were more frequent in the ILAO group. Smoking was associated with increased (P = 0.04) likelihood of ILAO. Patients with ILAO had more severe strokes (P ≤ 0.001) than patients without. Middle cerebral artery was the most common occluded vessel (52%). Functional dependence (P = 0.003, OR = 2.87, CI = 1.42-5.77), malignant transformation (P = 0.001, OR = 8.0, CI = 1.82-35.9), and mortality (P ≤ 0.001, OR = 7.67, CI = 2.40-24.5) were significantly higher among ILAO group. Patients with ILAO with unfavorable FOC were older than those who achieved better FOC (P ≤ 0.001). Thrombolysis (P = 0.02, OR = 2.50, CI = 1.15-5.41) and mechanical thrombectomy (MT) improved FOC in patients with ILAO (P = 0.04, OR = 2.33, CI = 1.10-4.92). CONCLUSION: ILAO is common in patients with ICAS-related AIS. Timely hyperacute stroke treatment can help improve the FOC of otherwise disabling stroke due to ILAO. Raising awareness of the community about stroke is needed, so that a higher number of patients can arrive at hospital within the golden hours. Further data from the region are required to recognize the efficacy of MT in ICAS-related ILAO.

Spinal Cord Termination and Lumbar Puncture Safety in Spinal Deformities.

Background Lumbar puncture, a common diagnostic and therapeutic procedure, is performed regardless of individual spinal alignment variations. However, the impact of kyphosis, scoliosis, and kyphoscoliosis on spinal cord termination level and lumbar puncture safety remains unclear. Objectives This study aimed to determine if the termination level of the spinal cord is different in individuals with spinal deformities and to assess the necessity of routine neuroimaging for safe lumbar puncture localization. Study design and settings This single-center retrospective study was conducted at a university hospital using patients' electronic medical records. The study was focused on patients diagnosed with kyphosis, scoliosis, or kyphoscoliosis using spinal magnetic resonance imaging from January 2010 to December 2022. Participants We evaluated 240 patients: 120 with diagnosed spinal deformities (kyphosis, scoliosis, or kyphoscoliosis) and 120 without deformities, categorized by sex (deformed: 92 females, 28 males; non-deformed: 72 females, 48 males). Patients with spinal trauma, bleeding, or tumors were excluded. Results No statistically significant correlation was found between spinal deformities and spinal cord termination, with L1 remaining the most common endpoint in all groups. Conclusion Routine neuroimaging prior to lumbar puncture in patients with spinal deformities was not associated with a safer procedure due to no observed impact on the termination level of the spinal cord.

Frequency and characteristics of chronic fatigue syndrome in multiple sclerosis patients at a university hospital in Eastern Saudi Arabia.

BACKGROUND: Multiple sclerosis (MS) is a chronic, inflammatory demyelinating disease that affects various parts of the central nervous system. Fatigue, a common symptom, transient, prolonged, or chronic experienced by individuals with MS, can significantly impact daily functioning. It can be associated with underlying pathological processes or can have an idiopathic cause, such as chronic fatigue syndrome (CFS). The study aimed to assess the presence and etiology of fatigue in MS patients and its relationship with CFS. MATERIALS AND METHODS: This cross-sectional study was conducted in the Eastern Province of Saudi Arabia. Data were collected using a questionnaire from a sample of 225 MS patients receiving care at our university hospital. The questionnaire included the Centers for Disease Control and Prevention (CDC) criteria for diagnosing CFS and the Expanded Disability Status Scale to evaluate fatigue in MS patients. RESULTS: Of the total of 225 MS patients who participated in this study, 87.1% were diagnosed with relapsing-remitting MS, 6.7% with primary progressive MS, 3.6% with clinically isolated syndrome, and 2.7% with secondary progressive MS. About 53% had experienced fatigue that persisted for over 6 months. Analysis of CFS diagnosis revealed that 7.3% of patients met both CDC criteria and self-reported answers while 17.5% reported having CFS despite not meeting the CDC criteria. These findings highlight a significant lack of agreement between patient-reported diagnoses and established criteria, indicating poor agreement (P = 0.028). CONCLUSION: The study found an association between CFS and MS, and a significant impact on daily functioning. The study revealed lack of agreement between patient-reported diagnoses and established criteria for CFS. This emphasizes the need for a standardized approach to diagnosis and evaluation of fatigue in MS patients.

Lifestyle Assessment of Primary Healthcare Physicians in Taif, Saudi Arabia in the Year 2022.

Objective This study aims to evaluate primary healthcare physicians' lifestyles to promote their well-being and improve care quality for the general population. Methods This cross-sectional quantitative study was conducted on primary healthcare physicians in Taif, Kingdom of Saudi Arabia (KSA), using self-administered questionnaires. Results We included 206 participants aged 26-66. Most participants were 35 years old or younger (67%), male (62.1%), and residents (52.4%). Of all participants, 49.5% held a Bachelor's degree, 40.8% had completed their board certificate or Ph.D., and 69.9% had at least 10 years of experience. Of all participants, 16.5% and less than 9% reported having hypercholesterolemia and other comorbidities, respectively. More than 50% were physically inactive, 26.2% were moderately inactive, and 17.4% were moderately active or active individuals. Physical activity was significantly associated with job titles (p < 0.018). The qualification was associated with dietary score (p = 0.034), and 42.7% of participants were in need of diet change. About a quarter (25.2%) were smokers, and 92.3% of them smoked daily. Male participants were associated with a greater likelihood of smoking (p < 0.001). Overall, 41.7% were overweight, and 25.7% were obese. Increased BMI was associated with older age and male gender (p < 0.001 and p < 0.002, respectively), as well as the title of the physician and years of experience (p < 0.001 and p < 0.002, respectively). Conclusion Participants' unhealthy lifestyles indicate the need to establish measures to promote healthy lifestyles among physicians.

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.

Factors Contributing to Noncompliance With Diabetic Medications and Lifestyle Modifications in Patients With Type 2 Diabetes Mellitus in the Eastern Province of Saudi Arabia: A Cross-Sectional Study.

BACKGROUND: Type 2 diabetes mellitus (T2DM) is defined as a chronic medical condition in which the blood glucose level remains high. The risk factors of T2DM are high body mass index due to obesity or being overweight, genetics, and certain medical conditions. Lifestyle modification plays a crucial role in T2DM regulation and prevention, and if it is not controlled well by either lifestyle modification or DM regulatory medications, it may lead to medical complications ranging from mild to life-threatening complications. AIM: The purpose of this study is to find the contributory factors of noncompliance with oral antidiabetic drugs and lifestyle modifications in patients with T2DM in the eastern province of Saudi Arabia. This will help control one of the most widespread comorbidities that might otherwise be a significant burden on patients' health and financial status as well as on the government. METHODOLOGY: A cross-sectional questionnaire study was conducted on T2DM patients in the eastern province of Saudi Arabia through a link distributed on social media, and the contributory factors of noncompliance to diabetes medication and lifestyle modification were evaluated. RESULTS: A total of 426 participants were included in the study. Regarding compliance with DM medications, 199 (46.7%) participants were adherent to their medications, 148 (34.7%) were not adherent to their medication, 42 (9.9%) were sometimes adherent, and 37 (8.7%) were mostly adherent to their medication. Regarding lifestyle modification, the level of adherence to a healthy diet and exercise among T2DM patients in the eastern province was low and unsatisfactory. According to the participants, the most reported factors contributing to noncompliance with DM medications and lifestyle modifications were forgetfulness, lack of knowledge about diabetes and the importance of controlling it, side effects of the medications, and difficulty in following a healthy diet. Regarding the influence of sociodemographic variables on the level of adherence in T2DM patients, factors such as age, marital status, occupation, comorbidities, diagnosis period, and previous complaints of DM complications showed significant associations with compliance with DM medication. CONCLUSION: The findings of this study revealed that the level of adherence to DM medications among T2DM patients in the eastern province was suboptimal. Although free medicines were available with a high level of healthcare access through government primary healthcare centers (PHCCs), poor adherence was observed. This study highlighted that medication adherence might be affected by age, marital status, occupation, chronic diseases, diagnosis period, and previous complaints of DM complications. Regarding lifestyle modification, this study showed that the level of adherence to a healthy diet and exercise among T2DM patients in the eastern province was low and unsatisfactory. Our recommendation is to measure the presence of dietician clinics, patient relationships with their healthcare providers, and their effect on patient compliance with DM medications. Further research is needed to include other factors that could influence adherence, such as patient-healthcare provider communication. Moreover, it is suggested that PHCCs discuss with noncompliant patients the reasons that prevent them from adhering to their medication and lifestyle modifications as part of their care plan.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

PPFIBP1 encodes for the liprin-ß1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications.

Clinical presentations, radiological characteristics, and biological risk factors of cerebral venous thrombosis at a University Hospital in Saudi Arabia.

OBJECTIVES: To describe the clinical features and possible etiologies of cerebral vein thrombosis (CVT) in a Saudi Arabian cohort. METHODS: A retrospective, observational design was implemented. Data pertaining to 36 patients (19 female and 17 male) with confirmed CVT diagnosis admitted to a hospital in Saudi Arabia between 2008 and 2019 were obtained and analyzed. RESULTS: The age of patients ranged between 19 to 82 years, and the mean/median age was 33/29 years. Most commonly reported symptoms were headache ( 72%), unilateral lower limb weakness (39%), and seizures (17%). Papilledema was found in 8% of patients. Thrombotic disorders were identified in 14% and infections were identified in 8% of the patients. Two patients had ulcerative colitis, 2 were diagnosed with Behcet's disease, and 2 women were using oral contraceptive pills. Single sinus thrombosis was detected in only 22% of patients. One patient with diabetic ketoacidosis died. Thrombotic disorder was the most common risk factor, followed by that iron deficiency anemia. CONCLUSION: The transverse sinus was the most frequently thrombosed sinus. Iron deficiency anemia emerged as a predisposing preventable condition for CVT, while genetic factors were found to be less important in this cohort.

Basilar artery vasospasm after pretuncal non-aneurysmal subarachnoid hemorrhage responding to milrinone.

Pretruncal (perimesencephalic) non-aneurysmal subarachnoid hemorrhage (PNSAH) is uniformly associated with an excellent outcome. Although cerebral vasospasm remains a common complication of SAH and constitutes an important predictor of outcome, in the setting of PNSAH, it is extremely rare. Preturnal non-aneurysmal subarac refers to a subset of SAH patients with a characteristic pattern of localized blood on CT of the head, normal cerebral angiography, and benign course when compared to the aneurysmal SAH population. The presence of radiological or even clinical vasospasm does not exclude the diagnosis of PNSAH. To our knowledge, this is the first case of symptomatic cerebral vasospasm due to PNSAH that responded to milrinone.