Neurologia i neurochirurgia polska最新文献

Introduction: This study aimed to assess the impact of midline lumbar fusion with cortical bone trajectory screws (MIDLF/CBT) on the multifidus muscles, focusing on the evaluation of their postoperative atrophy.

Clinical rationale for the study: MIDLF/CBT is a relatively new technique increasingly used to treat spinal instability. Despite its reduced invasiveness compared to traditional posterior lumbar interbody fusion with traditional pedicle screws (PLIF/TP), concerns remain about potential damage to the multifidus muscles that are crucial for spinal stability. Understanding the extent of muscular atrophy post-MIDLF/CBT is vital for improving surgical outcomes, and potentially patient rehabilitation strategies.

Material and methods: This study retrospectively analysed preoperative and postoperative MRI scans of patients who underwent MIDLF/CBT for degenerative segmental spondylolisthesis. The bilateral width of the multifidus muscles at the operated segment and adjacent segments was measured using axial T2-weighted MRI scans. Statistical comparisons were made using a paired t test, with significance set at p < 0.05.

Results: The study included 16 patients with an average age of 57 ± 10 years, 10 of whom (62.5%) were women, and featured a mean follow-up period of 37 ± 25 months. Postoperative measurements showed a significant reduction in the width of the multifidus muscles at the operated segment (mean difference -3.3mm, p = 0.02) and the inferior adjacent segment (-7.4 mm, p < 0.01). A decrease in muscle width at the superior adjacent segment was also observed, although this was not statistically significant.

Conclusions and clinical implications: Our study concluded that MIDLF/CBT results in significant multifidus muscle atrophy at and below the operated segment, potentially impacting postoperative rehabilitation and recovery. These findings highlight the need for further research comparing MIDLF/CBT to other spinal stabilisation techniques. Additionally, incorporating functional electromyographic assessments of paraspinal muscles could provide deeper insights into the long-term consequences of spinal surgeries and helpdevelop new approaches and strategies to mitigate paravertebral muscles atrophy, thus enhancing patient outcomes.

Aim of the study: The aims of this study were to translate and culturally adapt the Polish version (PL) of the Neuropathic Pain Questionnaire-Short Form (NPQ-SF), as well as to compare this questionnaire to other diagnostic tools in terms of reliability and psychometric validity.

Clinical rationale for the study: Neuropathic pain (NP) affects up to 10% of the general population. Despite a large number of studies, almost 50% of patients have a poor therapeutic outcome. Diagnostic tools are intended to distinguish between NP and non-NP (NoP) and to guide the examiner to perform further diagnostics in accordance with the guidelines.

Material and methods: A total of 140 patients with chronic pain (ChP), 90 with NP and 50 with NoP, were enrolled into this study. NPQ-SF-PL has been developed following the guidelines for translation and cultural adaptation. Reliability of the translated version was examined using internal consistency, predictive validity, and intraclass correlation coefficient (ICC).

Results: In the study, women predominated over men, and the average age was 53.22. Cronbach's α value for the entire scale was 0.76 and ICC for test-retest reliability was 0.631. Receiver-operating characteristic curve analysis gave a sensitivity of 90.0% and a specificity of 88.0%. Area under the curve was 0.94. NPQ-SF-PL was moderately associated with self-completed Leeds Assessment of Neuropathic Symptoms and Signs (S-LANSS) and weakly associated with the Numerical Rating Scale (NRS). The NP group obtained statistically significantly lower scores than the NoP group in all domains of the 36-Item Short Form Health Survey (SF-36), thus indicating worse health status. Patients aged over 41 years presented a worse quality of life compared to younger ones. Also, more than half of the patients with NP of both genders experienced symptoms of mild or more severe depression.

Conclusions: NPQ-SF-PL is a valid screening tool for assessing NP in Polish chronic pain patients. The obtained results showed very good psychometric properties and adequate internal consistency. The repeatability of the questionnaire indicated moderate reliability. Clinical implications/future directions. We believe this study will provide physicians with a new instrument for the evaluation of NP for clinical and research purposes.

Aim of the study: Genetic panel testing in paediatric and mixed adult and children populations has demonstrated clinical utility and provided a diagnostic yield of 18-40%. The data on adult epilepsies is limited. We aimed to investigate the diagnostic yield and analyse genetic diagnoses in whole exome sequenced adult patients with epilepsies in Poland.

Material and methods: We recruited 151 patients from 42 clinical centres across Poland. The patients had a diagnosis of epilepsy/ seizures, were 18 or older at the time of the genetic testing, and did not have a genetic diagnosis. All patients were tested with whole exome sequencing after an initial testing with a panel of 47 epilepsy-related genes.

Results: We reached a diagnostic yield when considering pathogenic/probably pathogenic variants according to ClinVar of 8.6% (n = 13) and 17% (n = 26) when applying the American College of Medical Genetics (ACMG) criteria. Most patients had a pathogenic/probably pathogenic variant in epilepsy-related genes (54%), followed by potential epilepsy-related genes (19%), and neurodevelopment-associated epilepsy genes (15%).

Conclusions: Our study shows that whole exome sequencing-based testing reaches a slightly higher diagnostic yield that the traditional 300 gene panel. Genes related to childhood onset neurodevelopmental disorders and epilepsy should be considered as well. Clinical implications/future directions. Patients may have had a diagnosis related to a childhood syndrome, but due to limited diagnostic possibilities, it was not possible to diagnose them in childhood. We would consider testing adult patients with epilepsy with whole exome or genome sequencing (or if not possible with a panel) in cases of a diagnosis of epilepsy with no hints suggesting secondary epilepsy, and especially with clinical features indicating a genetic epilepsy diagnosis, such as neurodevelopmental delay and early onset of seizures.

Introduction: Spinal fractures with subsequent bone fragment dislocation are among the injuries most feared by patients and physicians. The surgical strategy is tailored to the individual patient's characteristics and often consists of pedicle instrumentation with rod-screw systems. Short instrumentation has been associated with worse spinal correction and increased complications. However, recent studies have suggested similar results in terms of kyphosis correction and the maintenance of sagittal alignment compared to longer instrumentation.

Material and methods: This single-center retrospective study was conducted between January 2018 and April 2021. We included 35 single lumbar burst fractures AO Spine grade A3 or A4 with evidence of intra-canal fragments. Patients underwent minimally invasive percutaneous posterior lumbar instrumentation with pedicle screws. Patients received short segmental fixation involving only one level above and below the fractured vertebra.

Results: An immediate postoperative computed tomography (CT) scan demonstrated a significant reduction in vertebral kyphotic deformation (11.7° ± 1.6 vs 16.7° ± 5, p<0.001) and sagittal Cobb angle (9.8° ± 1.3 vs 11.7° ± 1.5, p < 0.001). The correction was slightly reduced but remained significant at 12 months for both kyphotic (12.3° ± 1.4, p = 0.03) and sagittal Cobb (10.3° ± 0.9, p = 0.04). Upper lumbar vertebrae showed even larger correction indices compared to lower lumbar segments. No implant failure or screws pullout was seen at the last follow-up.

Conclusions: Short spinal fixation is a safe and effective treatment of complete and incomplete burst fractures with posterior bone fragment dislocation. All included patients fared well and achieved good kyphotic correction with no perioperative or long-term complications.

Aim of study: Glutamate decarboxylase (GAD) enzyme can be a target intracellular antigen in autoimmune focal epilepsy. GAD65 antibody is in found patients diagnosed with drug-refractory temporal lobe epilepsy (TLE). We explore the clinical features of the disease and therapeutic options.

Material and methods: We present the cases of four TLE patients, two of them with type 1 diabetes. All of them were drug-resistant and therefore underwent presurgical evaluation, which revealed GAD65 antibody positivity. We discuss the four GAD65 antibody positive temporal lobe epilepsy patients' electroclinical data, the treatments, and their effectiveness.

Results: One of them became seizure-free after right anterior temporal lobe resection, two of them did not show significant improvement with immunmodulatory agents, and the fourth patient with the shortest duration of disease had significant improvement in seizure status and normalisation of cognitive status with IVIg therapy.

Conclusions and clinical implications: Our cases show that the earlier a GAD65 antibody is detected, the greater the chance of achieving seizure freedom or improvements in both seizure and cognitive status with immunomodulatory agents. However, in some cases, surgery may also bring seizure freedom, but with a risk of cognitive deterioration.

Introduction: Paragangliomas are neuroendocrine tumours commonly located in the abdomen, thorax, head and neck. The definitive treatment for these tumours is surgical resection, which in some cases can be very challenging due to the involvement of critical neurovascular structures and their high vascularity. Therefore, pre-operative embolisation may be performed to reduce the risk of complications. This study aimed to present our experience with endovascular embolisation of head and neck paragangliomas (HNP).

Material and methods: In this single-centre study, we reviewed data from consecutive patients with HNP who underwent pre-operative embolisation from 2017 to 2023. The efficacy of embolisation, the method of embolisation, as well as the rate of complications, were noted.

Results: A total of 27 patients (15 females) with an average age of 47 years underwent selective embolisation of HNP. Satisfactory embolisation, defined as occlusion of > 75% of the blood supply, was achieved in 22/27 cases (81.5%). The most commonly used embolic agents included coils and microspheres. With the exception of minor vessel dissections in two patients and embolic agent migration in two patients causing reversible occlusion of the intracranial vessels, there were no other complications associated with embolisation. No neurological deficits occurred in relation to the endovascular procedure.

Conclusions: The results of our study indicate that endovascular embolisation of HNP prior to surgical resection is a safe and efficacious procedure, with a relatively low complication rate and associated morbidity.