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Introduction: Spinal astroblastoma is a rare highly malignant tumor that mainly affects children. We review the few cases described in the literature and highlight the challenges of managing this neoplasm by illustrating a case recently treated at our institutions. To our knowledge, this is the first published case of EWSR1-BEND2 fused spinal astroblastoma with long-term follow-up. Case Presentation: An 8-year-old girl was transferred from her home country to Switzerland for treatment of a recurrent intramedullary tumor of the cervical spine extending from C2-C7. The tumor was primarily diagnosed as an ependymoma of the spinal cord. Prior to her transfer to our department, the patient had undergone subtotal resection of the lesion, radiation therapy, multiple chemotherapy regimens, and biopsy of the recurrent tumor. Clinically, the patient presented with tetraparesis and had recently experienced worsening upper extremity weakness with complete loss of hand function. We performed a near total resection of the recurrent tumor. Ultra-fast Nanopore seq® based DNA methylome profiling allowed confirmation of the molecular diagnosis of a high-grade neuroepithelial tumor (HGNET-MN1) consistent with astroblastoma in less than 2 h, with subsequent molecular workup revealing a EWSR1-BEND2 fusion. After surgery, the patient gradually regained function in her hands. She was sent to a specialized pediatric rehabilitation center, and while the tumor was being followed radiologically with no adjuvant treatment planned, the patient presented with a relapse of the tumor in only 3 months. Given the acute worsening of radiating pain and sudden respiratory failure, a cervical decompression was performed. MRI of the cervical spine showed infiltration of the lower aspects of the brainstem. The patient was offered palliative comfort care. Conclusion: Spinal astroblastoma is a rare and highly aggressive tumor affecting children and young adults with a high recurrence rate and thus far not well-defined prognosis. The molecular signature of astroblastoma needs to be further characterized to establish a treatment-relevant classification and to allow a better prognostication. Currently, gross-total resection combined with radiotherapy remains the mainstay of treatment for spinal astroblastoma. [ABSTRACT FROM AUTHOR]

Positional plagiocephaly is a deformational cranial flattening frequently treated in pediatric neurosurgical practice. Positional maneuvers and orthotic helmet therapy are preferred therapeutic options for moderate-to-severe forms. Treatment response seems to be age-dependent. Nevertheless, predictive data are vague, and cost-efficiency might be a limiting factor for treatment. The purpose of this study was to investigate the early predictive value of sonographic parameters on the efficacy of orthotic helmet therapy through the assessment of changes in skull shape and correlation of the parameters with caliper cephalometry values and with age. A consecutive cohort of 49 patients < 10 months of age, undergoing orthotic helmet therapy for positional plagiocephaly, was recruited prospectively. The authors routinely assessed the patency of the lambdoid sutures by ultrasound and the following additional skull parameters were measured: suture width, adjacent full bone thickness, adjacent cortical bone thickness and occipital angle. Caliper cephalometric values, as well as demographic and clinical data were collected. Retrospective data analysis showed an inverse relation between both cortical and full skull bone thickness and early treatment efficacy, defined by a reduction in the occipital angle. The improvement of sonographic parameters correlated with the development of cranial caliper cephalometry values. In conclusion, the sonographic assessment of skull bone thickness is a safe and cost-effective tool to predict the early efficacy of orthotic helmet therapy in positional plagiocephaly and might, therefore, help the clinician to foresee the potential evolution of the deformity. [ABSTRACT FROM AUTHOR]

Introduction: The aim of this cohort study was to assess the outcome of single-level selective dorsal rhizotomy (SDR) in children and young adults with spastic cerebral palsy (CP) treated at our institution, focusing on patient-reported outcome measures (PROMs) and quality of life (QoL) of patients and their caregivers. Methods: We included consecutive patients undergoing SDR from 2018 to 2020 at our institution. Subjective outcome was measured through PROMs, while functional outcome was measured through baseline characteristics, operative outcome, as well as short- and long-term follow-up. Furthermore, the effect of age at the time of surgery on patient/caregiver satisfaction was analyzed. Results: Seven patients (3 female, 43%) with a median age at surgery of 11.9 years (IQR 8.7–15.5) were included. All patients had a Gross Motor Function Classification (GMFCS) score of at least IV before surgery. Five surgeries were palliative and two non-palliative. Based on PROMs, SDR showed very good QoL and health-related outcome measures for both palliative and non-palliative patients. Patient/caregiver satisfaction was higher for the early subgroup (age ≤11) than the late subgroup (age >11). Functional outcome showed reduced spasticity in both groups. Blood transfusions were never needed, while no cerebrospinal fluid leak, infection, or permanent morbidity was seen. Conclusion: Based on PROMs, SDR leads to high satisfaction and improved QoL, especially if done at an early age. Further studies with larger cohorts are necessary to underline and confirm our observations. [ABSTRACT FROM AUTHOR]

Background: Fatty filum terminale is a form of spinal dysraphism and a third of all patients develop symptoms such as sensory, motor, and urinary impairment. Early surgery at 6 months has the advantage that the bone density is still soft, and the patients are not ambulatory yet, promoting faster healing. Method: We present our minimal invasive surgical technique for FFT untethering. Conclusion: Due to the low complication rate and the potentially high benefit of surgery, prophylactic untethering is recommended. [ABSTRACT FROM AUTHOR]

Background: Different techniques to reshape the posterior skull vault have been developed in the last decades, all sharing the same goals of increasing the skull volume, decreasing the intracranial pressure (ICP), correcting the cranial dysmorphy, and contributing to a better growth of the skull. Though over the last years most refinements in these techniques have focused on the use of hardware as distractors or springs, the fixed posterior vault expansion remains a valuable procedure for cranial remodeling. Methods: We describe in details the technique used for fixed posterior vault expansion in children that is applied at the French Referral center for Craniosynostosis of Lyon, France. Discussion: The fixed posterior vault expansion increases the risk of perioperative complications due to the elevation of the posterior bone flap from the dura but allows an immediate decompression and correction of the shape, simplifying the postoperative course. [ABSTRACT FROM AUTHOR]

Summary Stress adaptation is essential for neuronal health. While the fundamental role of mitochondria in neuronal development has been demonstrated, it is still not clear how adult neurons respond to alterations in mitochondrial function and how neurons sense, signal, and respond to dysfunction of mitochondria and their interacting organelles. Here, we show that neuron-specific, inducible in vivo ablation of the mitochondrial fission protein Drp1 causes ER stress, resulting in activation of the integrated stress response to culminate in neuronal expression of the cytokine Fgf21. Neuron-derived Fgf21 induction occurs also in murine models of tauopathy and prion disease, highlighting the potential of this cytokine as an early biomarker for latent neurodegenerative conditions. [ABSTRACT FROM AUTHOR]

Background Paranasal sinus osteoma is a common, asymptomatic, histologically benign, slow-growing tumor. However, it can give rise to secondary pathologies such as a mucocele in about 50% of the cases. Rarely, intracranial and orbital extension is present, leading to rhinoliquorrhea, pneumocephalus, or neurologic and visual impairment, which might be potentially life-threatening. Case Description A 49-year-old man presented with an acute frontal lobe syndrome and rhinoliquorrhea. Cranial magnetic resonance tomography showed a suspected frontoethmoidal osteoma with a mucocele expanding intradurally into the left frontal lobe. It was accompanied by pneumocephalus and showed communication with the left lateral ventricle. Through a bifrontal craniotomy, in toto resection of the frontoethmoidal bony tumor and the intradural mucocele was performed, while thereafter the frontal sinus was cranialized using a pedunculated periosteal flap. Postoperative recovery was uneventful with complete resolution of the tension pneumocephalus and rhinoliquorrhea and led to an improvement of the frontal lobe syndrome. Conclusions We present a rare case of pneumocephalus caused by a frontoethmoidal osteoma associated with an intradural mucocele. A review of the literature, focusing on the surgical strategies in such cases, is provided. [ABSTRACT FROM AUTHOR]

Objectives: Chronic subdural hematoma is a commonly encountered disease in neurosurgic practice, whereas its increasing prevalence is compatible with the ageing population. Recommendations concerning postoperative thrombosis prophylaxis after burr-hole drainage of chronic subdural hematoma are lacking. The aim of this study was to analyze the correlation between recurrence of chronic subdural hematoma and postoperative application of thrombosis prophylaxis.Design: Retrospective, consecutive sample of patients undergoing burr-hole drainage for chronic subdural hematoma over 3 years.Setting: Single, academic medical center.Patients: All patients undergoing surgical evacuation of a chronic subdural hematoma with burr-hole drainage. Exclusion: patients under the age of 18 years, who presented with an acute subdural hematoma and those who underwent a craniotomy.Interventions: We compared patients receiving thrombosis prophylaxis treatment after burr-hole drainage of chronic subdural hematoma with those who were not treated. Primary outcome measure was reoperation of chronic subdural hematoma due to recurrence. Secondary outcome measures were thromboembolic and cardiovascular events, hematologic findings, morbidity, and mortality. In addition, a subanalysis comparing recurrence rate dependent on the application time of thrombosis prophylaxis (< 48 vs > 48 hr) was undertaken.Measurements and Main Results: Overall recurrence rate of chronic subdural hematoma was 12.7%. Out of the 234 analyzed patients, 135 (57.3%) received postoperative thrombosis prophylaxis (low-molecular-weight heparin) applied subcutaneously. Recurrence of chronic subdural hematoma occurred in the thrombosis prophylaxis group and control group in 12 patients (8.9%) and 17 patients (17.2%), respectively, showing no significant difference (odds ratio, 0.47 [95% CI, 0.21 - 1.04]). A subanalysis comparing recurrence rate of chronic subdural hematoma dependent on the application time of thrombosis prophylaxis (< 48 vs > 48 hr) showed no significant difference either (odds ratio, 2.80 [95% CI, 0.83-9.36]). Higher dosage of thrombosis prophylaxis correlated with recurrence rates of chronic subdural hematoma, both in univariate and multivariate analyses.Conclusions: Our data suggest that the application of postoperative thrombosis prophylaxis after burr-hole drainage for chronic subdural hematoma does not result in higher recurrence rates of chronic subdural hematoma. In addition, it seems that early administration of thrombosis prophylaxis (< 48 hr) has no influence on recurrence rates; however, high dosage seems to increase recurrence rates. [ABSTRACT FROM AUTHOR]

Research efforts during the last decade have deciphered the basic molecular mechanisms governing mitochondrial fusion and fission. We now know that in mammalian cells mitochondrial fission is mediated by the large GTPase dynamin-related protein 1 (Drp1) acting in concert with outer mitochondrial membrane (OMM) proteins such as Fis1, Mff, and Mief1. It is also generally accepted that organelle fusion depends on the action of three large GTPases: mitofusins (Mfn1, Mfn2) mediating membrane fusion on the OMM level, and Opa1 which is essential for inner mitochondrial membrane fusion. Significantly, mutations in Drp1, Mfn2, and Opa1 have causally been linked to neurodegenerative conditions. Despite this knowledge, crucial questions such as to how fission of the inner and outer mitochondrial membranes are coordinated and how these processes are integrated into basic physiological processes such as apoptosis and autophagy remain to be answered in detail. In this review, we will focus on what is currently known about the mechanism of mitochondrial fission and explore the pathophysiological consequences of dysregulated organelle fission with a special focus on neurodegenerative conditions, including Alzheimer's, Huntington's and Parkinson's disease, as well as ischemic brain damage. [ABSTRACT FROM AUTHOR]

The development of minimally invasive neuroendoscopy has advanced in recent years. The introduction of the neuroendoscopic ultrasonic aspirator (NUA) broadened the treatment spectrum of neuroendoscopy. We aim to describe our experience with the use of NUA for the resection of intraventricular lesions. Here, we present consecutive retrospective case series of adult and pediatric patients undergoing resection of an intraventricular lesion with a NUA (Endoscopic Neurosurgical Pen, Söring GmbH, Quickborn, Germany) between January 2019 and April 2020. Eight patients between the age of 0.5 and 73 years underwent surgery using NUA and were included in this study. In four patients, an endoscopic assisted (EA) resection of the lesion was undertaken, while in four patients, the lesion was removed using purely endoscopic (PE) resection. In all cases, gross/near total resection was achieved. The average blood loss was 142.5 ± 90.4 mL (range 50–300 mL). Transient morbidity was seen in four patients (50%), while permanent morbidity or mortality did not occur. The NUA seems to be a safe and valuable tool for the minimally invasive resection of intraventricular lesions in selected cases. The type, size, consistency, and vascularization of the lesion limit at times the purely endoscopic use of the NUA. [ABSTRACT FROM AUTHOR]

During apoptosis mitochondria undergo cristae remodeling and fragmentation, but how the latter relates to outer membrane permeabilization and downstream caspase activation is unclear. Here we show that the mitochondrial fission protein Dynamin Related Protein (Drp) 1 participates in cytochrome c release by selected intrinsic death stimuli. While Bax , Bak double deficient (DKO) and Apaf1 −/− mouse embryonic fibroblasts (MEFs) were less susceptible to apoptosis by Bcl-2 family member BID, H 2 O 2 , staurosporine and thapsigargin, Drp1 −/− MEFs were protected only from BID and H 2 O 2 . Resistance to cell death of Drp1 −/− and DKO MEFs correlated with blunted cytochrome c release, whereas mitochondrial fragmentation occurred in all cell lines in response to all tested stimuli, indicating that other mechanisms accounted for the reduced cytochrome c release. Indeed, cristae remodeling was reduced in Drp1 −/− cells, potentially explaining their resistance to apoptosis. Our results indicate that caspase-independent mitochondrial fission and Drp1 -dependent cristae remodeling amplify apoptosis. This article is part of a Special Issue entitled ‘EBEC 2016: 19th European Bioenergetics Conference, Riva del Garda, Italy, July 2–6, 2016’, edited by Prof. Paolo Bernardi. [ABSTRACT FROM AUTHOR]