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Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease 2019 (COVID-19), a pneumonia with extremely heterogeneous clinical presentation, ranging from asymptomatic to severely ill patients. Previous studies have reported links between the presence of host genetic variants and the outcome of the COVID-19 infection. In our study, we used whole exome sequencing in a cohort of 444 SARS-CoV-2 patients, admitted to hospital in the period October-2020-April-2022, to search for associations between rare pathogenic/potentially pathogenic variants and COVID-19 progression. We used gene prioritization-based analysis in genes that have been reported by host genetic studies. Although we did not identify correlation between the presence of rare pathogenic variants and COVID-19 outcome, in critically ill patients we detected known mutations in a number of genes associated with severe disease related to cardiovascular disease, primary ciliary dyskinesia, cystic fibrosis, DNA damage repair response, coagulation, primary immune disorder, hemoglobin subunit β, and others. Additionally, we report 93 novel pathogenic variants found in severely infected patients who required intubation or died. A network analysis showed main component, consisting of 13 highly interconnected genes related to epithelial cilium. In conclusion, we have detected rare pathogenic host variants that may have influenced the COVID-19 outcome in Bulgarian patients., (© 2024. The Author(s).)

Background: The early management of polytrauma patients with traumatic spinal cord injury (tSCI) is a major challenge. Sparse data is available to provide optimal care in this scenario and worldwide variability in clinical practice has been documented in recent studies., Methods: A multidisciplinary consensus panel of physicians selected for their established clinical and scientific expertise in the acute management of tSCI polytrauma patients with different specializations was established. The World Society of Emergency Surgery (WSES) and the European Association of Neurosurgical Societies (EANS) endorsed the consensus, and a modified Delphi approach was adopted., Results: A total of 17 statements were proposed and discussed. A consensus was reached generating 17 recommendations (16 strong and 1 weak)., Conclusions: This consensus provides practical recommendations to support a clinician's decision making in the management of tSCI polytrauma patients., (© 2024. The Author(s).)

Background:  In this study, we analyze our institutional experience and personal impressions using minimally invasive spine surgery (MISS) to describe our learning curve and how experience influenced different parameters of the surgical procedure., Methods:  The study was conducted prospectively and included the first consecutive 152 patients treated with MISS techniques. Patient demographics, surgical data, length of hospital stay, and clinical outcome were reviewed. The cohort was divided into consecutive quarters. Comparison between the quarters and timeline analysis were made to assess the learning curve., Results:  Only percutaneous transpedicular screw fixation was performed in 65 cases, minimally invasive transforaminal lumbar interbody fusion (MI-TLIF) in 70 cases, and vertebral body replacement in 4 cases. The average blood loss was 113.3, 115, 106.6, and 107.1 mL for each quarter. The average operative time was 155.0, 143.2, 134.5, and 133.8 minutes for the four quarters, whereas the average radiation exposure time was 105.4, 85.3, 46.2, and 45.2 seconds. Differences in the operative time and radiation exposure time between the first to third and the first to fourth quarters were statistically significant., Conclusions:  Some advantages of MISS techniques could be observed with the very first cases and were not related significantly with the surgeon's experience with MISS. With the acquisition of more experience, some disadvantages of MISS techniques such as longer operative time and longer X-ray exposure can be substantially reduced. Surgical experience, familiarity of the team with the MISS instrumentation, and good patient selection are crucial for achieving all the benefits of MISS., Competing Interests: None declared., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).)

Introduction: New technologies providing higher degree of precision, less risk for damage and less harmful exposure to radiation are necessary for correct transpedicular screw trajectory, but their efficacy should be evaluated., Research Question: Evaluate the feasibility, accuracy and safety of Brainlab Cirq® navigated robotic arm assistance for pedicle screw placement in comparison to fluoroscopic guidance., Material and Methods: Group I "Cirq® robotic-assisted group" - 97 screws in 21 prospectively analyzed patients. Group II "Fluoroscopy-guided group" - 98 screws in 16 consecutive patients analyzed retrospectively. Comparative evaluations included screw accuracy on Gertzbein-Robbins's scale and fluoroscopy time. Time per screw and subjective mental workload (MWL) measured with the raw NASA task load index tool were assessed for Group I., Results: 195 screws were evaluated. Group I: 93 screws grade A (95.88%); 4 grade B (4.12%). In Group II, 87 screws grade A (88.78%); 9 grade B (9.18%); 1 grade C (1.02%); 1 grade D (1.02%). While the screws placed using the Cirq® system were more accurate overall, there was no statistical significance between the two groups, p=0.3714. There was no significant difference in operation length or radiation exposure between the two groups, however with the Cirq® system the radiation exposure for the surgeon was limited. Reduction in time per screw (p<0.0001) and in the MWL (p=0.0024) correlated with the surgeon's experience with Cirq®., Discussion and Conclusion: The initial experience suggests that navigated, passive robotic arm assistance is feasible, at least as accurate as fluoroscopic guidance, and safe for pedicle screw placement., Competing Interests: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Nikolay Gabrovsky reports financial support as a research grant was provided by Brainlab AG (Munich, Germany) as part of a research agreement with University Hospital “Pirogov”., (© 2023 Published by Elsevier B.V. on behalf of EUROSPINE, the Spine Society of Europe, EANS, the European Association of Neurosurgical Societies.)

Introduction: Various minimally invasive spine surgery (MISS) techniques have been developed with the goal of reducing approach-related soft-tissue trauma and its associated complications. However, there is still a debate on some of the potential drawbacks of MISS techniques, such as their longer operating times and increased intraoperative radiation. A solution to these disadvantages could be the implementation of new technologies, such as computer-assisted navigation (CAN) and surgical robotics. We compare the standard fluoroscopy MISS technique with our experience with time per screw and X-ray exposure for pedicle screw placement using the Brainlab Cirq passive robotic arm assistance coupled with the Brainlab Curve navigation system., Methods: In the Cirq robot-assisted group (Group I), 109 screws were placed in 24 prospectively analyzed patients. In the fluoroscopy-guided group, 108 screws inserted into 20 consecutive patients were analyzed retrospectively (Group II). The duration of surgery, the time to place one screw, the X-ray exposition, and the pedicle screw accuracy for each patient were recorded and reviewed., Results: In total, 217 screws were analyzed. The treated levels ranged from T10 to S1. In Group I, 104 screws were grade A (95.4%) and five were grade B (4.6%). In Group II, 96 screws were grade A (88.89%); ten were grade B (9.26%); one was grade C (0.93%), and one was grade D (0.93%). While the screws placed by using the Cirq system were more accurate overall, there was no statistical significance when the two groups were compared, p = 0.3724. There was no significant difference in radiation exposure between the two groups, p = 0.5482; however the radiation exposure for the surgeon was very limited with the Cirq system. There was a significant reduction in the operation length (p = 0.0183) and the time per screw (p < 0.0001) for Group I., Conclusions: The CAN systems and emerging robotic platforms have the potential to diminish the main disadvantages of MISS techniques-longer operation times and X-ray exposure, at least for the surgical team., (© 2023. The Author(s), under exclusive license to Springer Nature Switzerland AG.)

The 2016 WHO classification of tumors of the central nervous system affected importantly the group of CNS embryonal tumors. Molecular analysis on methylome, genome, and transcriptome levels allowed better classification, identification of specific molecular hallmarks of the different subtypes of CNS embryonal tumors, and their more precise diagnosis. Routine application of appropriate molecular testing and standardized reporting are of pivotal importance for adequate prognosis and treatment, but also for epidemiology studies and search for efficient targeted therapies. As a result of this approach, the term primitive neuroectodermal tumor-PNET was removed and a new clinic-pathological entity was introduced-Embryonal tumor with multilayered rosettes (ETMR). The group of CNS embryonal tumors include also medulloblastoma, medulloepithelioma, CNS neuroblastoma, CNS ganglioneuroblastoma, atypical teratoid/rhabdoid tumor (ATRT) and their subtypes. This chapter will focus mainly on ETMR and ATRT. Embryonal tumors with multilayered rosettes and the atypical teratoid/rhabdoid tumors are undifferentiated or poorly differentiated tumors of the nervous system that originate from primitive brain cells, develop exclusively in childhood or adolescence, and are characterized by a high degree of malignancy, aggressive evolution and a tendency to metastasize to the cerebrospinal fluid. Their clinical presentation is similar to other malignant, intracranial, neoplastic lesions and depends mainly on the localization of the tumor, the rise of the intracranial pressure, and eventually the obstruction of the cerebrospinal fluid pathways. The MRI image characteristics of these tumors are largely overlappingintra-axial, hypercellular, heterogeneous tumors, frequently with intratumoral necrosis and/or hemorrhages. Treatment options for ETMR and ATRT are very restricted. Surgery can seldom achieve radical excision. The rarity of the disease hampers the establishment of a chemotherapy protocol and the usual age of the patients limits severely the application of radiotherapy as a therapeutic option. Consequently, the prognosis of these undifferentiated, malignant, aggressive tumors remains dismal with a 5-year survival between 0 and 30%., (© 2023. Springer Nature Switzerland AG.)

Objectives: The objective of our study is to evaluate the impact of neurosurgical operative treatment on the performance status assessed by the Karnofsky Performance Scale (KPS) in patients with HGG for the first, for the second intervention and for the different age groups., Methods: A group of 425 patients operated consecutively for high-grade gliomas were included in this study. The performance status was evaluated preoperatively and 15 days postoperatively with the KPS. Analyses for the different histological grade, tumor locations and age groups divided by decades have been made., Results: The initial, preoperative KPS score for patients with grade III tumor was 77.65 and for grade IV - 71.35. Following the first operation mean KPS has a statistically significant increase and reaches 82.24 and 78.41, respectively. The improvement of the performance status after the first operation was significant for all relevant age groups, including the sixth, seventh and eighth decades. Although the obtained mean KPS scores after the second operation did not show improvement there was also no clear evidence for worsening in this group of patients (n = 100) and the negative results obtained were not statistically significant., Conclusion: According to our study, the first operation has a beneficial effect on the performance status in patients with HGG. The results for the second operation are more ambiguous, but there is no clear evidence for worsening of the KPS score after the second intervention. These results were relevant for all age groups, so we may expect amelioration in the performance status even in older patients.

Background: The presence of traumatic intraventricular hemorrhage (tIVH) on an admission CT scan is related to a worse outcome and increased mortality in patients with moderate and severe TBI. Currently, there is no available data regarding the predictive value of the appearance of tIVH as a delayed finding on follow-up CT scan. The purpose of this study was to determine the prevalence, associated risk factors, and prognosis of delayed tIVH., Methods: The study is based on 401 consecutive adult patients (age ≥ 18 years) with moderate-to-severe TBI admitted in our hospital for a 5-year period. At least one control CT was performed in 320 (79.8 %) patients. The prevalence of delayed tIVH was assessed and the potential risk factors and mortality were analyzed., Results: Delayed tIVH appeared in 38 cases (11.9 % of the second CT scans and 9.5 % of all patients). The patients with delayed tIVH are significantly older (57.39 vs. 48.63 years, p = 0.009) and developed statistically significant more frequent enlargement of an existing lesion (47.4 vs. 20.2 %, p = 0.001) and appearance of a new lesion (100 vs. 33.7 %, p < 0.001). Delayed tIVH appeared significantly more frequent in surgically treated patients with ICH as a main surgical lesion (p = 0.010) and is associated with significantly higher mortality (p < 0.001)., Conclusions: Delayed tIVH as a progression of injury in moderate-to-severe TBI has a relatively high occurrence and is associated with increased mortality. The only factor independently related to a new appearance of tIVH is the presence of ICH as a main surgical lesion on the control preoperative CT scans.

Mutations in genes encoding isocitrate dehydrogenase isoforms 1 (IDH1) and 2 (IDH2) have been associated with good prognosis for patients with brain neoplasias and have been commonly found together with mutated TP53 gene. To determine the prevalence of IDH1, IDH2, and TP53 mutations and their impact on overall survival 106 glioblastoma patients were analysed. IDH1 mutations were detected in 13 and IDH2 mutation in one patient. Two homozygous samples with R132H mutation in IDH1 gene and a novel aberration K129R in IDH2 gene were found. Sixty-four percent of IDH1/IDH2 mutated tumours harboured also a mutation in TP53 gene. Genetic aberrations in TP53 were present in 37 patients. Statistical analysis of the impact of the studied factors on the overall survival showed that the mutations in IDH1/IDH2, but not the ones in TP53, were associated with longer survival. Also, the impact of age on prognosis was confirmed. This is the first comprehensive study on glioblastomas in Bulgaria. Our results suggest that IDH1/IDH2 but not TP53 mutations together with other prognostic factors such as age might be applied in clinical practice for prediction of outcome in patients with glioblastomas.

Background: Histones are proteins closely associated with the DNA molecules and serve as a structural scaffold for the organization of chromatin. They play an important role in the regulation of gene expression by changing the level of DNA compaction. The special subtype of the linker histone family-H1 zero (H1.0) is generally expressed in non-dividing, terminally differentiated cells. The aim of our study is to investigate the correlation between the quantities of histone H1.0 in human gliomas, the histopathological grade and the overall survival., Material and Method: Twenty-nine (N = 29) patients with intraaxial lesions underwent a microsurgical tumor resection. Tumor samples were snap-frozen in liquid nitrogen immediately after resection. Following a specific protocol, linker histones were extracted from the tumor specimens and the quantities of histone H1.0 were assessed. All patients were followed up prospectively., Results: Of the 29 patients in our study (M:F = 17:12), five had a grade II astrocytoma, seven had a grade III, and 17 had a grade IV, according to the World Health Organization (WHO) classification. At the end of the study, three patients were still alive. The mean quantities of H1.0 were: 23.3 for grade II tumors, 13.9 for grade III and 11.3 for grade IV tumors. The statistical analysis demonstrated that the histological grade, age and Karnofsky performance status (KPS) remain among the most reliable predictive factors for the survival of patients with gliomas. Grade III-IV gliomas had significantly less histone H1.0 than grade II gliomas. Conformably, in a multivariate Cox regression analysis, H1.0 made a small but significant contribution (p < 0.05) to survival rates., Conclusion: Our study confirmed that histone H1.0 is a potential biological marker with prognostic value for the survival of patients with gliomas. The quantities of histone H1.0 are correlated to the histopathological grade of the tumor. The more aggressive and malignant gliomas tend to have lower quantities of histone H1.0.

Background: The microanatomical parameters of the premamillary artery (PMA) for the different configurations of the posterior communicating artery-adult (aPComA), hypoplastic (hPComA) and foetal (fPComA) were assessed and analysed. A comparative study with relevance to the neurosurgical practice has been carried out., Method: Red-coloured latex was injected in 35 human cadaver brains and a microanatomical dissection was performed. The area of emergence, the diameter, the length and the zone of penetration of the PMA were accessed., Results: Seventy PComA were found and 96 PMA were identified. In more than 85% of the cases, the diameter of the PMA largely surpassed the diameter of the other perforating vessels. In the aPComA group, the PMA was a single branch in 72.4% of the cases with mean diameter of 0.52 mm and average length of 13.22 mm. PMA was found to originate from the middle third in 60.5%. For the hPComA group, in 66.7% of the cases, one PMA with mean diameter of 0.49 mm and average length 12.41 mm was found. In 60.9%, PMA originated from the middle third. For the fPComA group, in 50.0% of the cases, one PMA was found with mean diameter of 0.39 mm, average length of 12.42 mm. PMA was found to originate from the anterior third in 41.7% of the cases. Emergence of the PMA from the internal carotid artery and from the P2 segment of the posterior cerebral artery was also documented., Conclusion: For the aPComA and the hPComA groups, the typical PMA may be described as the largest and most constant perforating branch emerging from the anterior 2/3 of the PComA and reaching the paramedian perforate substance. The PMA of the fPComA generally conforms to these characteristics but it is usually thinner, frequently duplicated and with higher percent of atypical emergence. These anatomical peculiarities may facilitate the intraoperative identification and preservation of the PMA when dealing with vascular or neoplastic pathologies with parasellar or interpeduncular extension.

Object: The authors conducted a study to determine the surgery-related results and outcomes in patients with synovial cysts of the lumbar spine. They emphasize several specific characteristics useful in clinical management., Methods: Forty-six consecutive patients with 54 lumbar synovial cysts underwent surgery between 1990 and 2001. A retrospective analysis of the clinical presentation and follow-up data, radiological findings, and surgical techniques was performed. Clinical presentation was dominated by acute or subacute sciatic pain. No specific symptom allowed differentiation of synovial cyst from a lumbar disc herniation. Computerized tomography scanning aided in establishing the correct diagnosis in 19 of 30 cases and magnetic resonance (MR) imaging did so in all cases. Three of the 46 patients presented with bilateral lumbar synovial cysts. The L4-5 level was affected in 61%, and radiological signs of disc degeneration/spondylosis were observed in 54% of the patients. Immediate symptom relief without local recurrence was obtained by complete microsurgical excision in which bipolar coagulation was used to remove the synovial membrane and in which the interapophysial joint was preserved. During the 1st postoperative year, a newly formed symptomatic synovial cyst developed on the contralateral side or at a superior vertebral level in five patients. They underwent surgery; results were good and there was no recurrence., Conclusions: The findings in this series suggest that synovial cysts can occur at multiple lumbar sites within a short period of time and could be predisposed to developing in certain individuals, predominantly in women older than 40 years of age. Postoperative follow up is recommended and MR imaging mandatory in cases of recurrent sciatica.