[Supratentorial neuroepithelial tumor with PLAGL1 gene fusion - a new type of morphologically variable pediatric brain neoplasm defined by a distinct DNA methylation class. A case report and literature review]. / Supratentorial'naya neiroepitelial'naya opukhol' so sliyaniem gena PLAGL1 u detei ­ novyi tip opukholi mozga s raznoobraznoi morfologicheskoi kartinoi i otlichitel'nym metilyatsionnym profilem(sluchai iz praktiki i obzor literatury).

BACKGROUND: Methylation analysis has become a powerful diagnostic tool in modern neurooncology. This technique is valuable to diagnose new brain tumor types. OBJECTIVE: To describe the MRI and histological pattern of neuroepithelial tumor with PLAGL1 gene fusion. MATERIAL AND METHODS: We present a 6-year-old patient with small right frontal intraaxial tumor causing drug resistant epilepsy. Despite indolent preoperative clinical course and MRI features suggesting glioneuronal tumor, histological evaluation revealed characteristics of high-grade glioma, ependymoma and neuroblastoma. RESULTS: Methylation analysis of tumor DNA confirmed a new type of a recently discovered neoplasm - neuroepithelial tumor with PLAGL1 fusion (NET PLAGL1). PCR confirmed fusion of PLAGL1 and EWSR1 genes. No seizures were observed throughout the follow-up period. There was no tumor relapse a year after surgery. CONCLUSION: Methylation analysis in neurooncology is essential for unclear tumor morphology or divergence between histological and clinical data. In our case, this technique confirmed benign nature of tumor, and we preferred follow-up without unnecessary adjuvant treatment.

Mean Square Deviation of ICP in Prognosis of Severe TBI Outcomes in Children.

OBJECTIVES: Prognostic value of intracranial pressure (ICP) is discussed in the recent literature. The aim of our study was to find the parameter that could be representative of ICP variations and might become a good predictor of severe traumatic brain injury (TBI) outcomes in children. MATERIALS AND METHODS: The study included 81 patients with severe TBI (2004-2014). INCLUSION CRITERIA: GCS ≤ 8, age > 3 years old, admission time to our clinic <24 h from the time of injury. Mean daily values of ICP were used as a predictor, Glasgow outcome scale value was used as a grouping variable. Outcomes were assessed 6 months after injury. RESULTS: Total mortality was 27%. We have entered the indicator "energy ICP" (E 2), which describes the dynamics of the process and energy. E 2 value in the group of survivors was <500 mmHg2; the probability of accurate forecasting was 91%. Sensitivity, 0.9; specificity; 0.94. CONCLUSIONS: The proposed method is accessible and easy to perform. This method has high specificity in the prediction of severe traumatic brain injury outcome and can be a reliable tool for ICP control.

Infrascanner in the diagnosis of intracranial lesions in children with traumatic brain injuries.

BACKGROUND: The number of traumatic injuries among children is increasing. However, so-called mild TBI might result in unfavourable outcomes. Early diagnosis of intracranial haematomas prior to development of serious complications may be a decisive factor for a favourable outcome. InfraScan company developed and brought to the market the Infrascanner model 1000, which is a portable detector of blood collections that operates in the near infrared (NIR) band. OBJECTIVE: To estimate the efficiency of the Infrascanner model 1000 for detection of intracranial haematomas among children with mild TBI. MATERIALS AND METHODS: Ninety-five patients with mild TBI were examined. An indication for cerebral CT after mild TBI was the presence of risk factors of intracranial lesions. The Infrascanner was used by a neurosurgeon during primary examination. CT was performed in 43 patients (45%), while 52 patients (55%) with a low risk of intracranial lesions were under observation. RESULTS: The results of examination of patients using CT and infrared scanning coincided in 39 cases and intracranial haematomas were detected in eight patients. False-positive results were obtained in three cases. The sensitivity of the procedure used in this group of patients with a medium and high risk of development of intracranial haemorrhages was 1.00 (0.66; 1.00). The specificity was 0.91 (0.81; 1.00)--the proportions and a 95% CI. The false-positive risk is 0.27 (0.00; 0.58). During infrared scanning in patients with low risk of intracranial lesions, false-positive results were obtained in four cases and false-negative results were absent. CONCLUSION: Infra-scanning might be viewed as a screening technique for intracranial haemorrhages in ambulances and outpatient trauma centres in order to decide on hospitalization, CT scanning and referral to a neurosurgeon. Infra-scanning combined with evaluation of risk factors of intracranial damage might reduce the number of unnecessary radiological examinations.

Autoantibodies to glutamate receptors and products of nitric oxide metabolism in serum in children in the acute phase of craniocerebral trauma.

Levels of serum autoantibodies (aAb) to glutamate receptors and products of nitric oxide (NO) metabolism, i.e., nitrates and nitrites, were assayed in children with recent craniocerebral trauma (CCT) of different levels of severity. All the children showed increases in serum aAb to both AMPA and NMDA receptor subtypes from day 1 to day 10 after trauma. The highest levels of serum aAb were to the NMDA subtype of glutamate receptor, which was characteristic of children with mild CCT (MCCT), with Glasgow Coma Scale (GCS) scores of 14-15 points. Levels of aAb to NMDA (NR2A) receptors in children with severe CCT (SCCT, GCS < 9 points) were lower than in children with MCCT, the lowest levels being seen in the group of children with lethal CCT (SCCT-2). Serum concentrations of NO metabolites increased by large factors in the group of children with SCCT, indicating marked brain hypoxia.