MAPK inhibitor sensitivity scores predict sensitivity driven by the immune infiltration in pediatric low-grade gliomas.

Pediatric low-grade gliomas (pLGG) show heterogeneous responses to MAPK inhibitors (MAPKi) in clinical trials. Thus, more complex stratification biomarkers are needed to identify patients likely to benefit from MAPKi therapy. Here, we identify MAPK-related genes enriched in MAPKi-sensitive cell lines using the GDSC dataset and apply them to calculate class-specific MAPKi sensitivity scores (MSSs) via single-sample gene set enrichment analysis.

Toxicity Reduction after Craniospinal Irradiation via Helical Tomotherapy in Patients with Medulloblastoma: A Unicentric Retrospective Analysis.

: Recent trials with craniospinal irradiation (CSI) via helical Tomotherapy (HT) demonstrated encouraging medulloblastoma results. In this study, we assess the toxicity profile of different radiation techniques and estimate survival rates. : We reviewed the records of 46 patients who underwent irradiation for medulloblastoma between 1999 and 2019 (27 conventional radiotherapy technique (CRT) and 19 HT).

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.

Hydrocephalus is one of the most prevalent form of developmental central nervous system (CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body movement. Furthermore, it has been shown that CSF flow within and across brain ventricles depends on cilia motility of the ependymal cells lining the brain ventricles, which play a crucial role to maintain patency of the narrow sites of CSF passage during brain formation in mice.

Spectroscopic measurement of 5-ALA-induced intracellular protoporphyrin IX in pediatric brain tumors.

Objective: 5-Aminolevulinic acid (5-ALA)-guided resection of gliomas in adults enables better delineation between tumor and normal brain, allowing improved resection and improved patients' outcome. Recently, several reports were published regarding 5-ALA for resection of pediatric brain tumors. The aim of the study was to determine the intracellular fluorescence of protoporphyrin IX (PPIX) in pediatric brain tumors by hyperspectral imaging and to compare it with visually observed intraoperative fluorescence.

5-ALA fluorescence-guided surgery in pediatric brain tumors-a systematic review.

Background: 5-Aminolevulinic acid (5-ALA)-guided resection of gliomas in adults enables better differentiation between tumor and normal brain tissue, allowing a higher degree of resection, and improves patient outcomes. In recent years, several reports have emerged regarding the use of 5-ALA in other brain tumor entities, including pediatric brains tumors. Since gross total resection (GTR) of many brain tumors in children is crucial and the role of 5-ALA-guided resection of these tumors is not clear, we sought to perform a comprehensive literature review on this topic.

Disseminated Bartonella henselae disease mimicking Langerhans' cell histiocytosis.

Bartonella henselae, the causative agent of cat-scratch disease, has been recognized to be responsible for a broad range of clinical syndromes. We report the case of a patient with disseminated B. henselae infection mimicking Langerhans cell histiocytosis at presentation and its successful management with neurosurgery, prolonged antibacterial therapy, and observation.

Regression of Pineal Lesions: Spontaneous or Iatrogenic? A Case Report and Systematic Literature Review.

Background: Tumors arising from the pineal region account for approximately 1% of intracranial neoplasms. We present a case of a previously healthy 5-year-old boy with an acute onset of headache. A magnetic resonance imaging (MRI) scan showed a pineal mass with aqueduct compression.

Endoscopic management of a low-grade thalamic glioma: a safe alternative to open microsurgery?

Background: Despite considerable advances in preoperative and intraoperative imaging and neuronavigation, resection of thalamic gliomas remains challenging. Although both endoscopic biopsy and third ventriculostomy (ETV) for the treatment of secondary hydrocephalus are commonly performed, endoscopic resection of thalamic gliomas has been very sparsely described.

Method: We report and illustrate the surgical procedure and patient's outcome after full endoscopic resection of a thalamic glioma and to discuss this approach as an alternative to open microsurgery.

Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant.

We report the successful use of multiplex ligation-dependent probe amplification (MLPA) to detect heterozygous loss of SMARCB1/INI1/SNF5 in the germ line of an infant with a huge posterior fossa tumor. MLPA and Sanger sequencing of the SMARCB1 gene in the germ line may be useful for the initial diagnosis in a defined subgroup of infants with rhabdoid tumors, in which biopsies cannot be performed.

Predicting the "usefulness" of 5-ALA-derived tumor fluorescence for fluorescence-guided resections in pediatric brain tumors: a European survey.

Background: Five-aminolevulinic acid (Gliolan, medac, Wedel, Germany, 5-ALA) is approved for fluorescence-guided resections of adult malignant gliomas. Case reports indicate that 5-ALA can be used for children, yet no prospective study has been conducted as of yet. As a basis for a study, we conducted a survey among certified European Gliolan users to collect data on their experiences with children.

Surgical treatment of lumbosacral pseudarthrosis and spondyloptosis in a patient with neurofibromatosis type 1 and a large lumbar anterior meningocele. Case report and review of the literature.

Background: Lumbar anterior meningocele (MC) is rare in patients with neurofibromatosis type 1 (NF1). Although spinal fusion with maximum possible resection of the cele might be indicated in these special cases, reports describing operative procedures are lacking.

Clinical Presentation: We present a young woman with NF1 and lower back pain due to lumbar anterior MC, extensive osteolysis, and deformation of the lumbar spine.

Kinetics of porphyrin fluorescence accumulation in pediatric brain tumor cells incubated in 5-aminolevulinic acid.

Background: Fluorescence-guided surgery with 5-aminolevulinic acid (5-ALA) enables more complete resections of tumors in adults. 5-ALA elicits accumulation of fluorescent porphyrins in various cancerous tissues, which can be visualized using a modified neurosurgical microscope with blue light. Although this technique is well established in adults, it has not been investigated systematically in pediatric brain tumors.

A bumpy road to the diagnosis of a Kytococcus schroeteri shunt infection.

We report a ventriculoperitoneal shunt infection associated with Kytococcus schroeteri, a Gram-positive bacterium from the family Dermacoccaceae. While the biochemical identification systems do not reliably identify this potential pathogen, sequence-based identification is recommended to guide the antibiotic treatment of this intrinsically meticillin-resistant species, which is susceptible to vancomycin, gentamicin and/or rifampicin.

Magnetic resonance 4D flow analysis of cerebrospinal fluid dynamics in Chiari I malformation with and without syringomyelia.

Objective: To analyse cerebrospinal fluid (CSF) hydrodynamics in patients with Chiari type I malformation (CM) with and without syringomyelia using 4D magnetic resonance (MR) phase contrast (PC) flow imaging.

Methods: 4D-PC CSF flow data were acquired in 20 patients with CM (12 patients with presyrinx/syrinx). Characteristic 4D-CSF flow patterns were identified.

Magnetic resonance 4D flow characteristics of cerebrospinal fluid at the craniocervical junction and the cervical spinal canal.

Objectives: To evaluate the applicability of 4D phase contrast (4D PC) MR imaging in the assessment of cerebrospinal fluid dynamics in healthy volunteers and patients with lesions at the craniocervical junction or the cervical spinal canal.

Methods: Ten healthy volunteers and four patients with lesions including Chiari I malformation and cervical canal stenoses were examined by a cardiac-gated 4D PC imaging sequence on 1.5T MRI.

Role of neoadjuvant chemotherapy in congenital intracranial haemangiopericytoma.

Infantile haemangiopericytoma of the CNS is a rare entity. We report the first case of a congenital haemangiopericytoma successfully treated by preoperative chemotherapy. The patient presented shortly after birth with the diagnosis of a haemangiopericytoma.

From glioblastoma to gangliocytoma: an unforeseen but welcome shift in biological behavior.

The prognosis in children harboring a glioblastoma multiforme (GBM) is usually poor. Few GBMs in children, however, seem to respond quite well to adjuvant chemotherapy. The biological basis for such chemotherapy sensitivity remains uncertain.

Pallidal deep brain stimulation improves quality of life in segmental and generalized dystonia: results from a prospective, randomized sham-controlled trial.

As part of the first randomized, sham-stimulation controlled trial on deep brain stimulation (DBS) in primary segmental or generalized dystonia, health-related quality of life (HRQoL) was assessed by SF-36. After the 3-month sham-controlled phase, significant HRQoL improvement occurred only in the active-stimulation group. The open-label extension phase resulted in a significant improvement in all SF-36 domains following 6 months of neurostimulation.

Pallidal deep-brain stimulation in primary generalized or segmental dystonia.

Background: Neurostimulation of the internal globus pallidus has been shown to be effective in reducing symptoms of primary dystonia. We compared this surgical treatment with sham stimulation in a randomized, controlled clinical trial.

Methods: Forty patients with primary segmental or generalized dystonia received an implanted device for deep-brain stimulation and were randomly assigned to receive either neurostimulation or sham stimulation for 3 months.