Neurological Sciences最新文献

Background: COL4A1 encodes the alpha-1 chain of type IV collagen, which plays a crucial role in vascular basement membranes. The clinical manifestations of COL4A1-related disorders are yet to be fully defined. There is increasing evidence that COL4A1 may play crucial roles across the vascular system.

Methods: We studied a 71-year-old man with a novel splice acceptor variant, COL4A1 [NM_001845.6] c.1466-1G > C. Clinical, radiological (including comprehensive imaging of the brain as well as chest and abdomen), and genetic assessments were performed.

Results: His medical history included fusiform dilatation (4.2 cm) of the ascending thoracic aorta, hearing loss, adrenal and pulmonary nodules, mild splenomegaly, and gallstones. Imaging showed fusiform dilatation (4.2 cm) of the ascending thoracic aorta and concomitant outpouching of the left A2 anterior cerebral artery in the patient in the setting of the heterozygous likely pathogenic splice site variant, COL4A1 c.1466-1G > C. Consistent with a diagnosis of COL4A1-related disorder, multiple cystic bilateral renal lesions were noticed on abdominal imaging. Magnetic resonance imaging of the brain also showed findings consistent with cerebral vasculopathy with scattered bilateral punctate T2/FLAIR hyperintensities within the supratentorial and pontine white matter.

Conclusion: Our observations support the growing body of evidence suggesting crucial roles for COL4A1 in vascular homeostasis including medium sized vessel cerebral vasculopathy and aortopathy.

Background: Due to its wide range of symptoms and often ambiguous presentation, establishing a definitive diagnosis of neurosyphilis remains a significant challenge. This study aims to illustrate the diagnostic value of vascular imaging in patients with neurosyphilis.

Methods: We retrospectively reviewed the medical records of neurosyphilis patients at a single institution from January 2010 to May 2024. After applying exclusion criteria, a total of 18 patients (14 males and 4 females) who met the diagnostic criteria and had vessel imaging were included.

Results: Patients presented with various neurological symptoms, which were categorized into focal neurological, gait and motor, cognitive and psychiatric, and other symptoms. On vascular imaging, the most common lesions were stenosis (n = 9, 50%), followed by luminal irregularity (n = 5, 27.8%) and aneurysm (n = 3, 16.7%). While a clear link between presenting symptoms and vascular lesions was demonstrable in some cases, other cases showed no direct correlation between clinical symptoms and imaging findings.

Conclusion: These cases underscore the persistent diagnostic challenges that require a comprehensive approach. Our study highlights that an interdisciplinary approach, integrating clinical, laboratory, and imaging data, is essential for an accurate diagnosis of neurosyphilis.

Background: The study aims to determine the association of risk factors and other major imaging markers of cerebral small vessel disease (CSVD) with post-stroke dysphagia (PSD) in patients with recent small subcortical infarct (RSSI), establish a predictive model and evaluate its predictive effectiveness.

Methods: A total of 394 patients with RSSI were enrolled in this study, with 79 (20.05%) of them diagnosed with PSD. Swallowing function assessments, including the water-swallowing test(WST) and volume-viscosity swallow test (V-VST), were conducted within the first 24 h following admission for oral feeding. Demographic and clinical data were collected from our stroke database. Major imaging markers of CSVD were evaluated through MRI scans. Multivariate logistic regression analysis was employed to identify independent risk factors for PSD in RSSI patients. Subsequently, a nomogram involving all these independent risk factors was developed and validated by Bootstrap. Receiver Operating Characteristic (ROC) curve analysis, calibration curve analysis, and decision curve analysis (DCA) were used to assess the predictive performance of the model.

Results: Imaging markers of cerebral small vessel disease, including cerebral microbleeds (CMBs) (OR = 3.939, 95% CI: 1.613-9.616), and moderate to severe enlargement of perivascular spaces (EPVS) (OR = 2.276, 95% CI: 1.160-4.466), were found to be significantly associated with PSD in patients with RSSI. The risk factors related to dysphagia in patients with RSSI included the following: High-sensitivity C-reactive protein (hs-CRP) (OR = 1.076, 95% CI: 1.005-1.153),baseline National Institutes of Health Stroke Scale (NIHSS) score (OR = 1.230, 95% CI: 1.132-1.336), total CSVD burden (OR = 1.613, 95% CI: 1.195-2.177) and lesion region(OR = 4.462, 95%CI: 2.333-8.532). The nomogram based on the four independent risk factors was developed and validated by Bootstrap. The model demonstrated an excellent predictive performance, with an area under the receiver operating characteristic curve (AUC) of 84.7%. The calibration curve indicated that the model's predictions closely align with actual outcomes, and DCA confirmed the model's clinical utility.

Conclusion: CSVD imaging markers, such as CMBs and moderate to severe EPVS, are associated with PSD in RSSI patients. Key risk factors were identified, and a predictive model was developed, which could serve as an effective tool for assessing individual risk and optimizing clinical decision-making in RSSI patients.

Purpose: To assess the safety and effectiveness of tACS as a therapeutic intervention for older adults with cognitive impairment.

Materials and methods: From the time of library construction until March 3, 2025, we conducted a comprehensive search of the databases PubMed, Embase, Web of Science and Cochrane Library. Additionally, we manually examined the references in the articles. The outcome indicators were cognitive function, which included memory function, attention, overall cognition, as well as safety.

Results: 6 publications with a total of 888 subjects were included. The tACS group did better at treating cognitive impairment, especially memory problems (SMD = 0.7, 95% Cl = 0.29 to 1.12, I2 = 52%, P = 0.0009) and overall cognition (SMD = 1.97, 95% Cl = -0.87 to 3.06, I2 = 0%, P = 0.0004). However, it did not have good efficacy on attention. Furthermore, tACS was a very safe treatment.

Conclusions: tACS is very effective in the treatment of older adults with cognitive impairment, especially for memory function and overall cognition. In addition, tACS is a very safe treatment. However, in the future, there is still a need for many high-quality clinical studies on tACS for cognitive impairment.