Neurologia i neurochirurgia polska最新文献

Serotonin syndrome (SS) is a potentially life-threatening condition resulting from excessive serotonergic activity often triggered by overdoses, drug interactions or inadequate polypharmacy. Serotonin syndrome is often underdiagnosed, and its documented prevalence worldwide is limited, however due to the growing global prescription of antidepressant agents for conditions ranging from psychiatric disorders to chronic pain and sleep disorders, the number of incidences is increasing. Serotonin syndrome presents with a wide spectrum of clinical manifestations, from mild agitation and hyperreflexia to severe hyperthermia, rigidity, and multi-organ failure. Its pathophysiology primarily involves 5-HT1A and 5-HT2A receptors, although other mechanisms may contribute. Current diagnostic frameworks, such as Hunter's criteria, provide guidance but have limitations, especially in cases of polypharmacy. Management strategies focus on early recognition, discontinuation of serotonergic agents, supportive care, and targeted treatments such as cyproheptadine, although its efficacy requires further study. Severe cases necessitate urgent interventions to control hyperthermia and prevent complications like rhabdomyolysis. This review highlights the clinical relevance of SS, its challenges in diagnosis and management, and the urgent need for increased awareness among healthcare providers. Future directions should aim to refine diagnostic criteria, explore novel therapeutic options, implementing preventive strategies and investigate the broader role of serotonin dysregulation in clinical practice to reduce morbidity and mortality associated with this condition.

Rare diseases (RDs) are a heterogeneous group of disorders defined by their low prevalence - affecting fewer than 1 in 2,000 individuals in Europe and fewer than 200,000 people in the US. Although individually uncommon, rare diseases collectively impact an estimated 263 to 446 million people worldwide. Early recognition and diagnosis remain major challenges, particularly in neurology, where overlapping phenotypes and limited awareness often delay appropriate management. We present 3 illustrative case studies highlighting the diagnostic and therapeutic complexities associated with rare neurologic disorders. The first case describes a patient with CSF1R-related disorder; diagnosis was significantly delayed due to initial misattribution of symptoms to traumatic brain injury. This delay ultimately precluded timely intervention with disease-modifying therapies such as hematopoietic stem cell transplantation. The second case involves a patient with frontotemporal dementia and parkinsonism linked to chromosome 17 with a pathogenic c.837T>G, p.N279K variant in the MAPT gene, also known as pallidopontonigral degeneration. Although a strong family history facilitated early diagnosis, the case underscores the broader challenges of managing hereditary neurodegenerative diseases within affected families. The third case presents an exceptionally rare scenario of dual pathogenic mutations in ATXN3 and ATXN8OS, resulting in concurrent diagnoses of spinocerebellar ataxia types 3 and 8. This case exemplifies the clinical ambiguity and interpretive difficulty posed by co-occurring rare variants with overlapping symptomatology. Collectively, these 3 cases emphasize the importance of accurate, timely diagnosis to avoid unnecessary testing in rare neurologic diseases. Timely recognition enables access to emerging personalized therapies and support systems.

Aim of the study: To analyze the patient population diagnosed with transient global amnesia (TGA) concerning their demographic structure, clinical data and results of additional tests performed.

Clinical rationale for the study: Transient global amnesia is a neurological disorder characterized by the sudden onset of temporary memory disturbances, resolving within 24 hours and not accompanied by other focal neurologic symptoms. The pathomechanism of TGA remains unknown. The prognosis is very favorable. Laboratory tests, electroencephalograms or radiologic imaging scans are typically normal. They are usually necessary to exclude alternative diagnoses.

Material and methods: The study was a retrospective analysis of 18795 patients hospitalized in the Clinical Provincial Hospital from 1 January 2017 to 30 April 2024. Patients with TGA were identified by searching digital data according to the ICD-10 classification. Each patient met Caplan's criteria (in Walrow and Hodges approach). The analysis considered demographic characteristics: age, gender, comorbidities, preceding factors, the time of illness onset, the results of additional tests [magnetic resonance imaging (MRI) and electroencephalogram (EEG)] and their timing.

Results: The study group included 113 patients. Hypertension and lipid disorders were most frequently noted comorbidities. Most common preceding factors were systolic blood pressure above 160 mmHg, (38%), sudden stress-inducing event (13.3%), severe pain (12.4%), physical activity (8.9%). Transient global amnesia episodes occurred most frequently during daytime, between 11 a.m. and 5 p.m. (61 patients, 54%) and 2 patients (1.77%) developed symptoms during nighttime. Magnetic resonance imaging was performed in 83 patients (73.45%). On MRI diffusion weighted imaging (DWI), hippocampal hyperintense areas were found in 15 patients (18.07%). Physical activity and atrial fibrillation were significantly higher in patients with DWI lesions. Electroencephalogram was performed in 102 patients (90.27%). Forty-seven (42%) of them showed abundant and dominant beta rhythm. Approximately one third (n = 39) had no EEG abnormalities. Epileptiform discharges were detected in two cases (1.77%). Abnormal EEG records were significantly higher in patients with present DWI lesions.

Conclusions and clinical implications: Transient global amnesia episodes often occur during daily activity, and the main preceding event was an increase in systolic blood pressure above 160 mmHg. Magnetic resonance imaging and EEG tests support the diagnosis. The sensitivity of MRI is higher when performed between 24-96 hours after symptom onset.

Introduction: Approximately 21% of patients who undergo cervical laminoplasty for cervical spondylotic myelopathy (CSM) develop postoperative kyphotic deformity (KD). Radiologic parameters (RPs) on preoperative sagittal X-ray have consistently shown to be the strongest predictors for KD but their acquisition requires manual labor from specialists. Thus, the authors developed a novel artificial intelligence (AI) model to autonomously retrieve the predictors.

Material and methods: A total of 259 patients' sagittal X-rays were retrospectively obtained from the internal center between 2016 and 2024 for training. Patients with spinal deformities, prior surgical interventions, or tumors/malignancies within the cervical region were excluded. Data augmentation techniques were used to amplify the dataset, and a custom attention U-net architecture was used. Prospective enrollment of patients diagnosed with CSM over nine months at the internal and external center was performed for validation.

Results: A total of 28 (77.8%) patients with CSM were prospectively obtained. The mean age was 66.0 ± 10.5 years, and 20 (71.4%) were females. The mean duration for human extraction of all RPs among the 2 neurosurgeons was 116.2 ± 17.5 seconds, whereas AI performed the task in 0.7 ± 0.0 seconds (p < 0.001). No significant difference was observed between the AI-obtained RPs and the physicians' report RP values, except for the center of gravity of the head to the C7 sagittal vertical axis, which reported a significant mean difference (p = 0.049); however, the extent of the difference was minimal (2.3 ± 4.0 mm).

Conclusions: This study automated the extraction of RPs for postoperative KD following laminoplasty. The trained model is publicly available for software developers to implement on a standalone platform or as a plugin on a medical imaging viewer. The model thus incentivizes the development of a risk scoring system for KD that utilizes the AI-acquired RPs to improve the evidence-based practice when selecting the surgical approach.

Aim of the study: Clipping of the middle cerebral artery (MCA) aneurysms presents significant anatomical challenges, requiring precise occlusion while preserving the integrity of adjacent vessels. Narrowing or occlusion of MCA branches can lead to strokes and severe neurological deficits. Intraoperative transit time flowmetry (ITTF) provides quantitative real-time measurements of cerebral blood flow, potentially reducing ischemic complications. This study evaluates whether ITTF monitoring during unruptured MCA aneurysm clipping improves postoperative outcomes compared to a control group without ITTF.

Material and methods: A retrospective review of a prospectively maintained institutional database was performed. A retrospective cohort study was conducted involving two groups of patients who underwent clipping for unruptured MCA aneurysms between 2010 and 2019. The monitored group (n = 34) received intraoperative ITTF monitoring, while the control group (n = = 20) did not. Intraoperative flow measurements were performed before and after clip placement, allowing for real-time clip adjustment if flow restriction exceeded 25%. All patients were monitored using motor-evoked potentials and indocyanine green video angiography. Postoperative outcomes were assessed using the modified Rankin Scale (mRS) at 30 and 90 days.

Results: In the ITTF-monitored group, postoperative morbidity was 3% compared to 5% in the non-monitored group. Clip repositioning was required in two ITTF-monitored cases to restore blood flow, despite normal indocyanine green video angiography and motor evoked potential findings. The odds ratio for postoperative neurological deficits was 5.05 when comparing the ITTF-monitored group to a hypothetical non-monitored scenario (13.6% morbidity); however, this difference was not statistically significant.

Conclusions: Despite the lack of statistical significance, ITTF monitoring may still play a valuable role in enhancing surgical safety, as it enabled clip repositioning in two cases where standard modalities (ICG and MEPs) showed no abnormalities. Further research is needed to confirm its clinical benefit and define its role in intraoperative decision-making.

Introduction: This study aimed to identify predictive factors for long-term incomplete nidus obliteration following stereotactic radiosurgery (SRS) for brain arteriovenous malformations (AVMs).

Material and methods: A systematic search across the PubMed, Web of Science, and Scopus databases identified observational studies reporting such factors. Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. The study protocol was registered through PROSPERO. Each eligible study's quality was assessed using the modified Newcastle-Ottawa Scale. Odds ratios (ORs) were calculated for dichotomous parameters.

Results: Two high-quality prospective cohort and three high-quality retrospective cohort studies were included, covering patients with complete (n = 638) and incomplete (n = 297) nidus obliteration. The mean age of the patients was 25.54 ± 12.81 years and the mean follow-up time was 95.98 ± 27.64 months. Predictors for incomplete obliteration of nidus included: AVM classified as Spetzler-Martin (SM) grade ≥ IV (odds ratio (OR) 10.57, 95% confidence interval (CI) 2.00-55.96, p = 0.006), the presence of multiple (> 1) feeding arteries (OR 6.47, 95% CI 2.20-19.10, p = 0.0007), nidus volume > 10 mL (OR 5.08, 95% CI 1.68-15.33, p = 0.004), and the occurrence of intranidal aneurysm (OR 3.33, 95% CI 1.10-10.08, p = 0.03). No statistically significant difference in proportions of patients with incomplete nidus obliteration was found between paediatric (≤ 18 years) and adult (> 18) patient cohorts (p = 0.95).

Conclusions: The following factors were found to be predictive for long-term incomplete nidus obliteration post-SRS for brain AVMs: SM grade equal to or higher than IV; the presence of multiple feeding arteries; AVM nidus volume exceeding 10 mL; and the occurrence of intranidal aneurysm. These findings will be beneficial in refining patient selection for radiosurgical treatment.