Neurosciences最新文献

Objectives: To develop a machine learning model to accurately predict stroke risk based on demographic and clinical data. It also sought to identify the most significant stroke risk factors and determine the optimal machine learning algorithm for stroke prediction.

Methods: This cross-sectional study analyzed data on 438,693 adults from the 2021 Behavioral Risk Factor Surveillance System. Features encompassed demographics and clinical factors. Descriptive analysis profiled the dataset. Logistic regression quantified risk relationships. Adjusted mutual information evaluated feature importance. Multiple machine learning models were built and evaluated on metrics like accuracy, AUC ROC, and F1 score.

Results: Key factors significantly associated with higher stroke odds included older age, diabetes, hypertension, high cholesterol, and history of myocardial infarction or angina. Random forest model achieved the best performance with accuracy of 72.46%, AUC ROC of 0.72, and F1 score of 0.74. Cross-validation confirmed its reliability. Top features were hypertension, myocardial infarction history, angina, age, diabetes status, and cholesterol.

Conclusion: The random forest model robustly predicted stroke risk using demographic and clinical variables. Feature importance highlighted priorities like hypertension and diabetes for clinical monitoring and intervention. This could help enable data-driven stroke prevention strategies.

Objectives: To assess clinicians' adherence to fingolimod's effective use according to the prescribed recommendations to reduce safety risk, identify the consequences, and highlight areas for improvement to policy makers for the benefit of both patient and care-giver.

Methods: A retrospective observational study conducted at a tertiary hospital targeting multiple sclerosis patients on fingolimod from January 2017 to December 2021. The physicians' adherence to the manufacturer's instructions was assessed and categorized into good, moderate, and poor based on adherence to fingolimod instructions and monitoring measures. Four monitoring measures were assessed: bradycardia observation, ophthalmic examination, liver enzymes, and infections. In addition, the impact of adherence on patient safety was also assessed.

Results: A total of 140 patients were included. Seventy-twopatients (51.4%) had physician with poor adherence (followed only one instruction or none). Sixty-five patients (46.4%) had 2-3 manufacture recommendations where physician's adherence was moderate. Three patients (2.10%) had all manufacturer's recommendations. In terms of fingolimod complications, 18 patients found to have bradycardia after the first does, macular oedema and infections was reported in 4 patients, and the elevation in hepatic enzymes was reported in 6 patients. Poor physician's adherence has resulted in treatment incompleteness and highest fingolimod discontinuation or switching to other treatment options.

Conclusion: Adherence to fingolimod instructions was poor among physicians which resulted in highest drug switching or discontinuing rate.

Objectives: To assess the optic disc parameters in healthy Saudi children.

Methods: This study recruited 85 children who were medically free, born full-term, cooperative, and aged 3-17 years. The children underwent a thorough ophthalmological examination (visual acuity, refraction post-cycloplegia, fundus photography) at the ophthalmology clinic of King Abdulaziz University Hospital, Jeddah. Fundus photographs obtained by a fundus camera were evaluated by the Retinal Size Tool program.

Results: Forty-eight participants were male (56.5%). The mean birth weight was 2.97±0.8 kg and the median gestational age was 39 weeks (range, 37-40 weeks). The median areas of the neuroretinal rim, cup, and optic disc were 1.82 mm² (range, 0.84-2.83 mm²), 0.47 mm² (range, 0.18-1.25 mm²), and 2.33 mm² (range, 1.15-3.52 mm²), respectively. The older age group had smaller neuroretinal areas compared to the younger age groups. The variables demonstrated no apparent correlation to axial length, refraction, or birth parameters. The cup size increased together with the optic disc (r=0.659, p<0.001). Sex and refraction did not correlate with any of the studied factors.

Conclusion: This study yielded normative data for the optic disc parameters of healthy Saudi children. The data can be used as a reference in the pediatric ophthalmology clinic to aid the identification of optic disc abnormalities.

Tumefactive demyelinating lesion is a variant of multiple sclerosis that is a diagnostic challenge. Tumefactive demyelinating lesion requires extensive work-up as its clinical and radiological features are often indistinguishable from other central nervous system lesions, such as tumors. Diagnosis is further complicated by the increasing recognition that tumefactive demyelinating lesions can occur alongside, evolve into, or develop from numerous conditions other than multiple sclerosis, pointing to a possible overlapping etiology. We review herein relevant studies from 2017 onwards to provide a current view on the pathogenesis, clinical and imaging findings, novel diagnostic techniques for differential diagnoses, and management of tumefactive demyelinating lesions.

Benign fibrous histiocytoma (BFH) within the intracerebral region is remarkably rare. Our report details 2 cases of unusual BFH instances that exhibit no adhesion to the dura mater or cerebral falx, accompanied by a comprehensive literature review. While magnetic resonance imaging demonstrates specific characteristics for BFH, it does not readily differentiate BFH from more common brain neoplasms like gliomas and metastatic tumors. The definitive diagnosis of BFH depends primarily on histopathological and immunohistochemical examinations. Total surgical resection is considered an efficacious therapeutic approach, emphasizing the necessity for prolonged postoperative surveillance to detect any potential tumor recurrence or metastasis.

Objectives: To investigate the clinical and genetic features in a cohort of Chinese families with neurofibromatosis type 1 (NF1).

Methods: The clinical information of 21 patients with NF1 in 10 families was retrospectively analyzed. To broaden the genetic spectrum of NF1, multiplex ligation-dependent probe amplification analysis was performed first, followed by the whole-exome sequencing, in order to identify pathogenic or potentially pathogenic variants of NF1 gene in 10 unrelated Chinese families.

Results: Nine different NF1 variants were identified in all 10 families. Of these, 7 were known pathogenic variants and included the exon 1 deletion, exons 1-58 deletion, c.5401C>T (p.Q1801*), c.2291-2A>C, c.484C>T (p.Q162*), c.4922G>A (p.W1641*) and c.1019_1020del (p.S340Cfs*25). The 2 novel variants were c.5197T>C (p.S1733P) and c.783_797delinsC (p.K261Nfs*25). The p.S1733P variant was classified as a variant of uncertain significance, while p.K261Nfs*25 was classified as pathogenic. Hence, the positive detection rate of NF1 variants was 100% (10/10). While the truncating variants were responsible for 60.0% (6/10) of the cases, the splicing variant was responsible for 10% (1/10) of the cases.

Conclusion: We identified 2 novel heterozygous variants (c.5197T>C and c.783_797delinsC) in the NF1 gene, which broadens the genetic spectrum of the NF1 gene.