Neurosciences最新文献

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.

Cervical arterial dissection (CAD) is a common cause of stroke in young people which can be classified as either spontaneous or traumatic. The primary initial symptoms are headache, neck pain, and dizziness. Recently, a 57-year-old woman experienced a severe headache after using a cervical neck traction device. Radiological examination of the head and neck revealed right vertebral artery dissection, which emphasizes the importance of recognizing that using cervical neck traction devices increases the risk of traumatic vertebral artery dissection.

Objectives: To elucidate the relationship between DNA methylation profiling (DMP) and pathological diagnosis (PD) in pediatric glial and glioneuronal tumors with B-Raf proto-oncogene, serine/threonine kinase (BRAF) mutations, addressing their diagnostic challenges.

Methods: This retrospective study, conducted in Saudi Arabia, analyzed 47 cases from the Children's Brain Tumor Network online database using scanned images, next-generation sequencing data, and methylation profiles processed using the Heidelberg methylation brain tumor classifiers v12.5 and v12.8. The data was last access on 10 November 2023.

Results: The highest prevalence of BRAF mutations was observed in pilocytic astrocytoma and ganglioglioma. The DMP was consistent with PD in 23 cases, but discrepancies emerged in others, including diagnostic changes in diffuse leptomeningeal glioneuronal tumor and polymorphous low-grade neuroepithelial tumor of the young. A key inconsistency appeared between a pilocytic astrocytoma MC and a glioneuronal tumor PD. Two high-grade astrocytomas were misclassified as pleomorphic xanthoastrocytomas. Additionally, low variant allelic frequency in gangliogliomas likely contributed to misclassifications as control in 5 cases.

Conclusion: This study emphasized the importance of integrating DMP with PD in diagnosing pediatric glial and glioneuronal tumors with BRAF mutations. Although DMP offers significant diagnostic insights, its limitations, particularly in cases with low tumor content, necessitate cautious interpretation, as well as its use as a complementary diagnostic tool, rather than a definitive method.