Genetic Alteration Analysis of IDH1, IDH2, CDKN2A, MYB and MYBL1 in Pediatric Low-Grade Gliomas.

Objective: To investigate pediatric low-grade gliomas for alterations in .

Materials And Methods: DNA and RNA were extracted from 62 pediatric gliomas. Molecular methods included PCR, RT-PCR, and RNA sequencing; Sanger sequencing was used for validation.

Postoperative hydrocephalus management may cause delays in adjuvant treatment following paediatric posterior fossa tumour resection: a multicentre retrospective observational study.

Introduction: Hydrocephalus persists in 10-40% of children with posterior fossa tumours (PFT). A delay in commencement of adjuvant therapy (AT) can negatively influence survival. The objective of this study was to determine whether postoperative cerebrospinal fluid (CSF) diversion procedures caused potentially preventable delays in AT.

Classifying Medulloblastoma Subgroups Based on Small, Clinically Achievable Gene Sets.

As treatment protocols for medulloblastoma (MB) are becoming subgroup-specific, means for reliably distinguishing between its subgroups are a timely need. Currently available methods include immunohistochemical stains, which are subjective and often inconclusive, and molecular techniques-e.g.

The Need to Look for Visual Deficit After Stroke in Children.

To evaluate the role of the ophthalmologist in the management of children with arterial stroke, at presentation and during follow-up. This retrospective case series comprised children with arterial stroke who were followed for at least 12 months in a tertiary pediatric medical center in 2005-2016. Demographic data and findings on radiological neuroimaging and ophthalmological and neurological examination were retrieved from the medical files.

Proptosis due to intraorbital space-occupying lesions in children.

Purpose: To report the 10-year experience of two tertiary medical centers with children presenting with proptosis due to an intraorbital space-occupying lesion.

Methods: Patients were identified by file review. Data were collected on demographics, findings on ophthalmologic and imaging evaluations, etiology, treatment, and outcome.

Conservative management for pediatric patients with chiari 1 anomaly: A retrospective study.

Objective: To better understand the natural history of non-surgical management of chiari 1 anomaly.

Patients And Methods: After obtaining approval of the institutional review board, medical records and radiological exams of patients treated for CM1 at our institution between the years 2010 and 2016 were reviewed. Twenty-nine patients total were included in our study.

Use of Optical Coherence Tomography to Detect Retinal Nerve Fiber Loss in Children With Optic Pathway Glioma.

Optic pathway glioma (OPG) presents in childhood and can cause significant morbidity and visual loss. Magnetic resonance imaging (MRI) is the current imaging modality of choice for evaluation of OPG progression, but it is a relatively limited resource often requiring sedation in the pediatric age group. Additionally, OPG progression on MRI does not always correlate with clinical progression.

Protective Effect of TLR4 Ablation against Corneal Neovascularization following Chemical Burn in a Mouse Model.

Purpose: To determine whether Toll-like receptor 4 knockout protects mice from corneal neovascularization following chemical injury compared to wild-type (WT) mice.

Methods: A chemical burn (75% silver nitrate, 25% potassium nitrate) was created under anesthesia in the central right cornea of 32 WT and 31 Toll-like receptor 4 knockout mice. Corneal neovascularization was evaluated at 3, 4, 6, 8, 10, and 35 days after injury using digital photography, fluorescein angiography, gelatin perfusion with fluorescence vascular imaging, immunofluorescence staining, and molecular analysis.

MicroRNA-mRNA expression profiles associated with medulloblastoma subgroup 4.

Purpose: Medulloblastoma (MB), the most common malignant brain tumor in children, is divided into four tumor subgroups: wingless-type (WNT), sonic hedgehog (SHH), Group 3, and Group 4. Ideally, clinical practice and treatment design should be subgroup specific. While WNT and SHH subgroups have well-defined biomarkers, distinguishing Group 3 from Group 4 is not straightforward.

Optic pathway-hypothalamic glioma hemorrhage: a series of 9 patients and review of the literature.

OBJECTIVEHemorrhage (also known as apoplexy) in optic pathway gliomas (OPGs) is rare. Because of the variable presentations and low incidence of OPG hemorrhages, little is known about their clinical course and the best treatment options. The aim of this work was to review risk factors, clinical course, and treatment strategies of optic glioma hemorrhages in the largest possible number of cases.

Long-term follow-up of benign positional vertical opsoclonus in infants: retrospective cohort.

Background/aims: Benign positional vertical opsoclonus in infants, also described as paroxysmal tonic downgaze, is an unsettling phenomenon that leads to extensive work-up, although benign course has been reported in sporadic cases. We describe long-term follow-up of a series of infants with the phenomenon.

Methods: This retrospective cohort included all infants diagnosed with rapid downgaze eye movement in 2012-2015 and followed until 2016.

Fluorescence Lifetime Imaging Microscopy, a Novel Diagnostic Tool for Metastatic Cell Detection in the Cerebrospinal Fluid of Children with Medulloblastoma.

In pediatric brain tumours, dissemination of malignant cells within the central nervous system confers poor prognosis and determines treatment intensity, but is often undetectable by imaging or cytology. This study describes the use of fluorescence lifetime (FLT) imaging microscopy (FLIM), a novel diagnostic tool, for detection of metastatic spread. The study group included 15 children with medulloblastoma and 2 with atypical teratoid/rhabdoid tumour.

Distal shunt revision: a simple method to avoid repeat laparotomy.

Hydrocephalus is usually treated by placement of a ventriculo-peritoneal (VP) shunt. Distal VP shunt failure is a common complication of this procedure, especially in the paediatric population. Distal shunt revisions are often made more technically difficult by challenging abdominal anatomy.

The promise of stem cell-based therapeutics in ophthalmology.

The promising role of cellular therapies in the preservation and restoration of visual function has prompted intensive efforts to characterize embryonic, adult, and induced pluripotent stem cells for regenerative purposes. Three main approaches to the use of stem cells have been described: sustained drug delivery, immunomodulation, and differentiation into various ocular structures. Studies of the differentiation capacity of all three types of stem cells into epithelial, neural, glial and vascular phenotypes have reached proof-of-concept in culture, but the correction of vision is still in the early developmental stages, and the requirements for effective implementation are still unclear.

Paradoxical ventriculomegaly due to low-pressure hydrocephalus, a rare complication of the treatment of a trapped fourth ventricle: Case report.

In this paper, we describe the rare phenomena of descending transtentorial herniation and paradoxical ventriculomegaly due to low pressure hydrocephalus. This resulted as a complication of treatment in a 14year old male patient, who had undergone multiple ventriculo-peritoneal shunt placements for hydrocephalus after resection of pilocytic astrocytoma. We discuss the etiology of this rare complication and our strategy for treatment.

Comparison of Neuroprotective Effect of Bevacizumab and Sildenafil following Induction of Stroke in a Mouse Model.

To evaluate the effect of bevacizumab and sildenafil on stroke parameters in a mouse model, middle cerebral artery occlusion was induced in male C57Bl/6 mice using an intra-arterial filament method. The filament was removed after 60 minutes, and the mice were immediately given a single intraperitoneal injection of saline, bevacizumab, or sildenafil. An additional group of mice (n = 7) received bevacizumab 6 h after MCAO induction.

Severe cranial neuropathies caused by falls from heights in children.

Purpose: Falls from heights are the most common traumatic event associated with emergency department visits in children. This study investigated the incidence and clinical course of cranial neuropathies caused by falls from heights in children.

Methods: The computerized records of a tertiary pediatric medical center were searched for all patients admitted to the emergency department in 2004-2014 with a head injury caused by falling from a height.

Acquired nystagmus as the initial presenting sign of chiasmal glioma in young children.

Background/purpose: The aim of the study was to investigate the incidence of nystagmus at diagnosis in children with optic pathway glioma involving the chiasm and hypothalamus.

Methods: Twenty-two patients with a measurable optic pathway/hypothalamic glioma (without neurofibromatosis-1) were followed in our center from 2001 to 2013. The medical files were retrospectively reviewed for demographic and clinical findings, and the imaging scans, for tumor characteristics.

Relative neuroprotective effects hyperbaric oxygen treatment and TLR4 knockout in a mouse model of temporary middle cerebral artery occlusion.

Purpose: To examine the effects of hyperbaric oxygen (HBO) therapy and knockout of toll-like receptor 4 (TLR4) on the outcome of temporary middle cerebral artery occlusion (MCAO) in a mouse model.

Materials And Methods: MCAO was induced in anesthetized male C57Bl/6 mice (WT) and TLR4 knockout mice (TLR4(-/-)) using an intra-arterial filament method. After 30 or 90 min, the filament was removed, and the mice were given either no treatment (WT and TLR4(-/-) groups) or HBO (WT only).

BRAF, GNAQ, and GNA11 mutations and copy number in pediatric low-grade glioma.

Fifty-two samples of pediatric low-grade glioma (48 primary, 4 recurrent) were analyzed for BRAF copy number variation (digital PCR analysis, CopyCaller) and point mutations of BRAF V600E, and exon 5 Q209 in GNAQ, and GNA11, using the MALDI-TOF mass spectrometer with validation by direct sequencing. An increased BRAF copy number was found in 18/47 primary samples tested; 15 of them (83.3%) were pilocytic astrocytomas.