Extracranial Vertebral Artery Aneurysm Presenting as a Chronic Cervical Mass Lesion

Background. Aneurysms of the extracranial vertebral artery are rare and can provide a diagnostic and therapeutic challenge. Methods. We reviewed the clinical history of a patient presenting with cervical radiculopathy, who harboured an extracranial vertebral artery aneurysm eroding the cervical spine. Results. CT Angiography and MR Angiography set the diagnosis, by revealing a left C5-C6 vertebral artery aneurysm with cervical root impingement. Bony reconstruction depicted enlargement of the C6 transverse foramen and a marked enlargement of the C6-C7 intravertebral foramen. The lesion was treated by intravascular proximal vertebral artery occlusion. Conclusions. Extracranial vertebral artery aneurysms require a high index of clinical suspicion. This is the first report of a vertebral artery pseudoaneurysm presenting with bony erosion, which supports a less minacious portrayal of vertebral artery aneurysms

Idiopathic Intracranial Hypertension: Epidemiology, pathophysiology, clinical features and contemporary management.

Idiopathic Intracranial Hypertension (IIH) is a syndrome of increased intracranial pressure (ICP) without evident cause. The exact pathogenesis of IIH remains elusive but it is also plausible that the syndrome represents the common final pathway of several different mechanisms. IIH has an estimated incidence of 1-3 per 100 000 and a predilection for obese women of childbearing age.  Presentation involves symptomatology and semiology of elevated intracranial pressure with headache being the most common. Visual disturbances can be devastating, progressive and may result in permanent visual loss. Moreover, pulsatile tinnitus is frequently encountered. However, asymptomatic presentations are also not uncommon with patients diagnosed after routine ophthalmological examination illustrates papilledema. Diagnosis is based upon the Friedman’s criteria. Absence of hydrocephalus or mass lesion and normal cerebrospinal fluid (CSF) composition need to be confirmed. Several treatment modalities have been suggested, varying from non-surgical (weight loss, drugs such as acetazolamide, serial lumbar puncture) to interventional and surgical (CSF diversion procedures, optic nerve sheath fenestration (ONSF), endovascular venous sinus stenting, or even bariatric surgery). There are very few RCTs to critically assess these therapies and, consequently, no consensus on the optimal management of IIH.

Anaplastic Lymphoma Kinase in Glioblastoma: Detection/Diagnostic Methods and Therapeutic Options

Background: Glioblastoma (GBM) is the most aggressive and common brain tumor in adults, currently lacking effective life-prolonging and recurrence-preventing therapy; median survival of GBM patients stands at only 14-16 months. Increasing lines of evidence indicate that Anaplastic lymphoma kinase (ALK), a druggable tyrosine kinase receptor over-expressed in GBM, represents a potential therapeutic target in this tumor. Objective: An overview of the state of the art and the existing recent patents regarding potential exploitation of ALK as a therapeutic target and/or diagnostic/prognostic factor in GBM. Method: Recent literature and patents focusing on or including ALK pre-clinical and clinical research in GBM have been identified and reviewed, and are discussed according to their potential use. Results: Numerous recent ALK-related patents were identified. They were reviewed/analyzed in relation to previously published research and categorized based on their potential in GBM: i) diagnosis/prognosis, ii) drug-based therapeutic targeting of ALK using a single compound or combination schemes and iii) therapeutic ALK targeting by other means, e.g. ALK vaccination. Conclusion: ALK targeting holds promise as a novel therapeutic approach in GBM, especially in combination schemes allowing multi-target therapy. Such schemes may incorporate detection-guided therapy and utilize next generation inhibitory compounds with improved central nervous system penetration. Moreover, identification of ALK-mediated molecular pathway(s) related to GBM carcinogenesis/pathology and putative therapy resistance is of high priority and warrants further exploitation

Mutation Screening of Her-2, N-ras and Nf1 Genes in Brain Tumor Biopsies

Background/Aim: A deeper understanding of the complex molecular pathology of brain malignancies is needed in order to develop more effective and targeted therapies of these highly lethal disorders. In an effort to further enlighten the molecular pathology of brain oncogenesis involving the her-2 (erbB-2/neu/ngl)/N-ras/nf1 pathway, we screened the genotypes of specimens from various types of brain tumors. Materials and Methods: The studied specimens included 35 biopsies of four general categories: 13 neuroglial tumors (4 astrocytomas, 2 oligodendrogliomas, 7 glioblastomas multiforme), 14 meningiomas, 3 other nervous system tumors (2 schwannomas, 1 craniopharyngioma) and 5 metastatic tumors (such as lung carcinomas and chronic myelocytic leukemia). Screening for most common mutations in oncogenes her-2, N-ras and tumor suppressor gene nf1 was conducted with molecular hybridization techniques (Southern blotting, dot blot and single-strand conformational polymorphism (SSCP) analysis, respectively), and was confirmed by DNA sequencing. Results: Gene amplification of her-2 was observed in only two cases (6%), namely in one glioblastoma and in one meningioma. Screening of 3 hot spot codons of the N-ras gene (12, 13 and 61) and subsequent DNA sequencing revealed mutations in 19 biopsies encompassing all categories (54%). Screening for mutations in exons of the nf1 gene by SSCP analysis detected a novel nonsense mutation in exon 31 in a unique case of a glioblastoma biopsy (3%) taken from a patient without neurofibromatosis type I. Conclusion: Activated N-ras appears to be a major oncogene in brain oncogenesis, exhibiting the most important role in the her-2/N-ras/nf1 pathway

The ancient Hellenic and Hippocratic origins of head and brain terminology

Corpus Hippocraticum, a collection of Hippocratic writings, is considered to be the first written monument of rationale medicine. This article focuses on a series of ancient Hellenic words which are cited in Hippocratic passages and have been adopted in current head and brain terminology either invariably, i.e., keeping their original meaning, or as component parts of newly formed terms. This study aims to demonstrate first that the deeper roots of current neuroanatomical terminology spread in Hippocratic writings and second, that ancient Hellenic remains a living language that would probably ever continue to play a catalytic role in the formation of neuroanatomical glossary by providing accurate, emblematic, and functional terms. Clin. Anat. 25:548558, 2012. (C) 2012 Wiley Periodicals, Inc

Single-Step Resection of Sphenoorbital Meningiomas and Orbital Reconstruction Using Customized CAD/CAM Implants

Objective Computer-aided design and manufacturing (CAD/CAM) implants are fabricated based on volumetric analysis of computed tomography (CT) scans and are routinely used for the reconstruction of orbital fractures. We present three cases of patients with sphenoorbital meningiomas that underwent tumor resection, orbital decompression, and orbital reconstruction with patient specific porous titanium or acrylic implants in a single procedure. Methods The extent of bone resection of the sphenoorbital meningiomas was planned in a virtual three-dimensional (3D) environment using preoperative thin-layer CT data. The anatomy of the orbital wall in the resection area was reconstructed by superimposing the contralateral unaffected orbit and by using the information of the neighboring bony structures. The customized implants and a corresponding craniotomy template were designed in the desired size and shape by the manufacturer. Results All patients presented with a sphenoorbital meningioma and exophthalmos. After osteoclastic craniotomy with the drilling template, orbital decompression was performed. Implant fitting was tight in two cases and could be easily fixated with miniplates and screws. In the third patient, a reoperation was necessary for additional bone resection, as well as drilling and repositioning of the implant. The postoperative CT scans showed an accurate reconstruction of the orbital wall. After surgery, exophthalmos was substantially reduced and a satisfying cosmetic result could be finally achieved in all patients. Conclusions The concept of preoperative 3D virtual treatment planning and single-step orbital reconstruction with CAD/CAM implants after tumor resection involving the orbit is well feasible and can lead to good cosmetic results

Advances on Liquid Biopsy Analysis for Glioma Diagnosis

Gliomas comprise the most frequent primary central nervous system (CNS) tumors, characterized by remarkable genetic and epigenetic heterogeneity, difficulty in monitoring, and increased relapse and mortality rates. Tissue biopsy is an established method of tumor cell collection and analysis that enables diagnosis, classification of different tumor types, and prediction of prognosis upon confirmation of tumor’s location for surgical removal. However, it is an invasive and often challenging procedure that cannot be used for frequent patient screening, detection of mutations, disease monitoring, or resistance to therapy. To this end, the minimally invasive procedure of liquid biopsy has emerged, allowing effortless tumor sampling and enabling continuous monitoring. It is considered a novel preferable way to obtain faster data on potential tumor risk, personalized diagnosis, prognosis, and recurrence evaluation. The purpose of this review is to describe the advances on liquid biopsy for glioma diagnosis and management, indicating several biomarkers that can be utilized to analyze tumor characteristics, such as cell-free DNA (cfDNA), cell-free RNA (cfRNA), circulating proteins, circulating tumor cells (CTCs), and exosomes. It further addresses the benefit of combining liquid biopsy with radiogenomics to facilitate early and accurate diagnoses, enable precise prognostic assessments, and facilitate real-time disease monitoring, aiming towards more optimal treatment decisions

Maternal environmental risk factors for congenital hydrocephalus: a systematic review

Objective Congenital hydrocephalus (CH) is one of the most frequent CNS congenital malformations, representing an entity with serious pathological consequences. Although several studies have previously assessed child-related risk factors associated with CH development, there is a gap of knowledge on maternal environmental risk factors related to CH. The authors have systematically assessed extrinsic factors in the maternal environment that potentially confer an increased risk of CH development. Methods The Cochrane Library, MEDLINE, and EMBASE were systematically searched for works published between 1966 and December 2015 to identify all relevant articles published in English. Only studies that investigated environmental risk factors concerning the mother-either during gestation or pregestationally-were included. Results In total, 13 studies (5 cohorts, 3 case series, 3 case-control studies, 1 meta-analysis, and 1 case report) meeting the inclusion criteria were identified. Maternal medication or alcohol use during gestation; lifestyle modifiable maternal pathologies such as obesity, diabetes, or hypertension; lack of prenatal care; and a low socioeconomic status were identified as significant maternal environmental risk factors for CH development. Maternal infections and trauma to the mother during pregnancy have also been highlighted as potential mother-related risk factors for CH. Conclusions Congenital hydrocephalus is an important cause of serious infant health disability that can lead to health inequalities among adults. The present study identified several maternal environmental risk factors for CH, thus yielding important scientific information relevant to prevention of some CH cases. However, further research is warranted to confirm the impact of the identified factors and examine their underlying behavioral and/or biological basis, leading to the generation of suitable prevention strategies