No abstract

The "isomorphic subtype of diffuse astrocytoma" was identified histologically in 2004 as a supratentorial, highly differentiated glioma with low cellularity, low proliferation and focal diffuse brain infiltration. Patients typically had seizures since childhood and all were operated on as adults. To define the position of these lesions among brain tumours, we histologically, molecularly and clinically analysed 26 histologically prototypical isomorphic diffuse gliomas. Immunohistochemically, they were GFAP-positive, MAP2-and CD34-negative and nuclear ATRX expression was retained. All 24 cases sequenced were IDH-wildtype. In cluster analyses of DNA-methylation data, isomorphic diffuse gliomas formed a group clearly distinct from other glial/glio-neuronal brain tumours and normal hemispheric tissue. It was most closely related to paediatric MYB/MYBL1 altered diffuse astrocytomas and angiocentric gliomas. 13/25 (52%) of isomorphic diffuse gliomas had copy number alterations of MYBL1 or MYB. Gene fusions of MYBL1 or MYB with various gene partners were detected in 11/22 (50%). Gene fusions were associated with increased RNA-expression of the respective MYBfamily gene in 83%. Integrating copy number alterations and RNA sequencing data, 20/26 (77%) had either MYBL1 (54%) or MYB (23%) alterations. Clinically, 89% of patients were seizure free after surgery and all had a good outcome. In summary, we here define a distinct tumour class with a concise morphology, a typical DNA-methylation profile and frequent MYBL1 and MYB alterations. It occurs both in children and adults and has a benign disease course. For classification, we propose the term "isomorphic diffuse glioma, MYBL1/MYB altered, WHO grade I". DNA-methylation profiling is well suited to identify these tumours.

Medically intractable epilepsy in children can be treated effectively by surgery. The degree of resection or disconnection of diseased tissue, but not patient age at the time of surgery, is an important factor in achieving epilepsy control. Early surgery is more likely to improve developmental outcome.

The management of ACC of the scalp is still controversial. Our series suggests that conservative treatment should be performed for initial management in newborns.

This study showed a useful and noninvasive method for monitoring intracranial pressure, which was able to indicate the intracranial hypertension in children with hydrocephalus and, thus, should be further investigated for clinical applications.

OBJECTIVEThe main objective of neurosurgery is to establish safe and reliable surgical techniques. Medical technology has advanced during the 21st century, enabling the development of increasingly sophisticated tools for preoperative study that can be used by surgeons before performing surgery on an actual patient. Laser-printed models are a robust tool for improving surgical performance, planning an operative approach, and developing the skills and strategy to deal with uncommon and high-risk intraoperative difficulties. Practice with these models enhances the surgeon’s understanding of 3D anatomy but has some limitations with regard to tactile perception. In this study, the authors aimed to develop a preoperative planning method that combines a hybrid model with augmented reality (AR) to enhance preparation for and planning of a specific surgical procedure, correction of metopic craniosynostosis, also known as trigonocephaly.METHODSWith the use of imaging data of an actual case patient who underwent surgical correction of metopic craniosynostosis, a physical hybrid model (for hands-on applications) and an AR app for a mobile device were created. The hybrid customized model was developed by using analysis of diagnostic CT imaging of a case patient with metopic craniosynostosis. Created from many different types of silicone, the physical model simulates anatomical conditions, allowing a multidisciplinary team to deal with different situations and to precisely determine the appropriate surgical approach. A real-time AR interface with the physical model was developed by using an AR app that enhances the anatomic aspects of the patient’s skull. This method was used by 38 experienced surgeons (craniofacial plastic surgeons and neurosurgeons), who then responded to a questionnaire that evaluated the realism and utility of the hybrid AR simulation used in this method as a beneficial educational tool for teaching and preoperative planning in performing surgical metopic craniosynostosis correction.RESULTSThe authors developed a practice model for planning the surgical cranial remodeling used in the correction of metopic craniosynostosis. In the hybrid AR model, all aspects of the surgical procedure previously performed on the case patient were simulated: subcutaneous and subperiosteal dissection, skin incision, and skull remodeling with absorbable miniplates. The pre- and postoperative procedures were also carried out, which emphasizes the role of the AR app in the hybrid model. On the basis of the questionnaire, the hybrid AR tool was approved by the senior surgery team and considered adequate for educational purposes. Statistical analysis of the questionnaire responses also highlighted the potential for the use of the hybrid model in future applications.CONCLUSIONSThis new preoperative platform that combines physical and virtual models may represent an important method to improve multidisciplinary discussion in addition to being a powerful teaching tool. The hybrid model associated with the AR app provided an effective training environment, and it enhanced the teaching of surgical anatomy and operative strategies in a challenging neurosurgical procedure.

Simultaneous insertion of shunt and correction of a myelomeningocele do not pose an additional risk to the child and do have some advantages, facilitating healing of the back without CSF leakage and protecting the brain from the effects of progressive ventricular dilatation. Patients with a myelomeningocele born outside the hospital are prone to infectious complications.

Context Signs and symptoms of Cushing’s syndrome (CS) overlap with common diseases, such as the metabolic syndrome, obesity, osteoporosis, and depression. Therefore, it can take years to finally diagnose CS, although early diagnosis is important for prevention of complications. Objective The aim of this study was to assess the time span between first symptoms and diagnosis of CS in different populations to identify factors associated with an early diagnosis. Data Sources A systematic literature search via PubMed was performed to identify studies reporting on time to diagnosis in CS. In addition, unpublished data from patients of our tertiary care center and 4 other centers were included. Study Selection Clinical studies reporting on the time to diagnosis of CS were eligible. Corresponding authors were contacted to obtain additional information relevant to the research question. Data Extraction Data were extracted from the text of the retrieved articles and from additional information provided by authors contacted successfully. From initially 3326 screened studies 44 were included. Data Synthesis Mean time to diagnosis for patients with CS was 34 months (ectopic CS: 14 months; adrenal CS: 30 months; and pituitary CS: 38 months; P < .001). No difference was found for gender, age (<18 and ≥18 years), and year of diagnosis (before and after 2000). Patients with pituitary CS had a longer time to diagnosis in Germany than elsewhere. Conclusions Time to diagnosis differs for subtypes of CS but not for gender and age. Time to diagnosis remains to be long and requires to be improved.