Magnetic Resonance Imaging Diagnosis in Normal Pressure Hydrocephalus.

Background: Idiopatic normal pressure hydrocephalus (iNPH) is a progressive neurologic syndrome featured by the triad of gait disturbance, mental deterioration and urinary incontinence, associated with ventriculomegaly and normal cerebrospinal fluid (CSF) pressure. The clinical presentation may be atypical or incomplete, or mimicked by other diseases, so conventional neuroradiologic imaging plays an important role in defining this pathology. iNPH pathophysiologic mechanisms have not yet been fully elucidated, although several studies have demonstrated the involvement of the glymphatic system, a highly organized fluid transport system, the malfunction of which is involved in the pathogenesis of several disorders including normotensive hydrocephalus.

Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs.

Novel insights on regulation of gene expression mechanisms highlight the pivotal role of epitranscriptomic modifications on decision about transcript fate. These modifications include methylation of adenosine and cytosine in RNA molecules. Impairment of the normal epitranscriptome profile was observed in several pathological conditions, such as cancer and neurodegeneration.

Editome landscape of CCM-derived endothelial cells.

By regulating several phases of gene expression, RNA editing modifications contribute to maintaining physiological RNA expression levels. RNA editing dysregulation can affect RNA molecule half-life, coding/noncoding RNA interaction, alternative splicing, and circular RNA biogenesis. Impaired RNA editing has been observed in several pathological conditions, including cancer and Alzheimer's disease.

Imaging features of perineural and perivascular spread in rapidly progressive rhino-orbital-cerebral mucormycosis: A case report and brief review of the literature.

Background: Rhinocerebral mucormycosis (ROCM) is an opportunistic fungal infection originating from the paranasal sinuses with extension to the brain. A delayed diagnosis can rapidly result in a poor prognosis. ROCM commonly affects patients with diabetes or immunocompromised states with a variable progression.

Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells.

Cerebral cavernous malformations (CCM) are lesions affecting brain capillaries that appear with a mulberry-like morphology. This shape results from the enlarged and tangled microvessels having defective endothelial cell junctions, few surrounding pericytes and dense extracellular collagen-rich matrix. Three genes KRIT1, CCM2 and PDCD10 are linked to disease onset.

Hirayama disease - Early MRI diagnosis of subacute medullary ischemia: A case report.

Background: Hirayama disease (HD) is a rare, benign, and self-limiting motor neuron disorder that results in selective motor impairment of the C7-T1 myotomes. It is characterized by progressive, unilateral, or bilateral asymmetric muscle atrophy of the distal upper extremities and myelopathy.

Case Description: A 23-year-old male presented with bilateral atrophy of the thenar/hypothenar eminences/ interosseous muscles, plus left-hand weakness.

An unusual internal carotid artery compression as a possible cause of Eagle syndrome - A novel hypothesis and an innovative surgical technique.

Background: Eagle syndrome (ES) is a rare symptomatic condition generally caused by an elongated styloid process (SP) or calcification of the stylohyoid complex. On the diagnosis is made, its treatment remains subjective since the indications for surgical intervention are still not standardized. Although styloidectomy is the surgical treatment of choice, no consensus exists regarding the transcervical or/and transoral route.

Posttraumatic chronic cranial osteomyelitis due to a superficial wound - A clinical and neuroradiological case report.

Background: Osteomyelitis is a progressive infection of bone and bone marrow by microorganisms, resulting in inflammatory destruction of bone, bone necrosis, and new bone formation. Skull involvement is a rare occurrence which mainly affects children with chronic inflammatory diseases of paranasal sinusitis, or malignant otitis. In adults, cranial vault osteomyelitis can occur after cranial surgery or head trauma.

DCE and DSC perfusion MRI diagnostic accuracy in the follow-up of primary and metastatic intra-axial brain tumors treated by radiosurgery with cyberknife.

Background: The differential diagnosis between radiation necrosis, tumor recurrence and tumor progression is crucial for the evaluation of treatment response and treatment planning. The appearance of treatment-induced tissue necrosis on conventional Magnetic Resonance Imaging (MRI) is similar to brain tumor recurrence and it could be difficult to differentiate the two entities on follow-up MRI examinations. Dynamic Susceptibility Contrast-enhanced (DSC) and Dynamic Contrast-Enhanced (DCE) are MRI perfusion techniques that use an exogenous, intravascular, non-diffusible gadolinium-based contrast agent.

Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis.

Cerebrovascular malformations include a wide range of blood vessel disorders affecting brain vasculature. Neuroimaging differential diagnosis can result unspecific due to similar phenotypes of lesions and their deep localization. Next-generation sequencing (NGS) platforms simultaneously analyze several hundreds of genes and can be applied for molecular distinction of different phenotypes within the same disorder's macro-area.

UAIS: Unruptured Aneurysms Italian Study.

Background: Unruptured intracranial aneurysms (UIAs) are increasingly identified and are an important health-care burden; in the past they were commonly treated by surgical clipping, but nowadays endovascular coil embolization is increasingly employed as an alternative.

Methods: The Unruptured Aneurysms Italian Study (UAIS) is a multicentric cooperative prospective study aimed to delineate the "State of the Art" of UIAs treatment in Italy. 51 Italian Neurosurgical and Neuroradiological Units, representatives of all 20 Italian regions are involved in the Study.

Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations.

Cerebral cavernous malformations (CCMs) are clusters of capillaries in the brain that may cause focal deficits or seizures in affected patients. They occur in both sporadic and inherited autosomal dominant form. Germline mutations in CCM1, CCM2 and CCM3 were identified in familial cases.

Introducing the concept of "CSF-shift edema" in traumatic brain injury.

Brain edema after severe traumatic brain injury (TBI) plays an important role in the outcome and survival of injured patients. It is also one of the main targets in the therapeutic approach in the current clinical practice. To date, the pathophysiology of traumatic brain swelling is complex and, being that it is thought to be mainly cytotoxic and vasogenic in origin, not yet entirely understood.

Role of Hemodynamic Forces in Unruptured Intracranial Aneurysms: An Overview of a Complex Scenario.

Background: An understanding of the natural history of unruptured intracranial aneurysms (IAs) has always played a critical role in presurgical or endovascular planning, to avoid possibly fatal events. Size, shape, morphology, and location are known risk factors for rupture of an aneurysm, but morphologic parameters alone may not be sufficient to perform proper rupture risk stratification.

Methods: We performed a systematic PubMed search and focused on hemodynamics forces that may influence aneurysmal initiation, growth, and rupture.

Management of aneurysmal subarachnoid hemorrhage: State of the art and future perspectives.

Background: Aneurysmal subarachnoid hemorrhage (SAH) accounts for 5% of strokes and carries a poor prognosis. It affects around 6 cases per 100,000 patient years occurring at a relatively young age.

Methods: Common risk factors are the same as for stroke, and only in a minority of the cases, genetic factors can be found.

Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.

Cerebral cavernous malformations (CCMs) are lesions affecting brain microvessels. The pathogenesis is not clearly understood. Conventional classification criterion is based on genetics, and thus, familial and sporadic forms can be distinguished; however, classification of sporadic cases with multiple lesions still remains uncertain.

CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.

Background: Cerebral cavernous malformations (CCMs) are vascular anomalies of the nervous system mostly located in the brain presenting sporadically or familial. Causes of familial forms are mutations in CCM1 (Krit1), CCM2 (MGC4607) and CCM3 (PDCD10) genes. Sporadic forms with no affected relative most often have only one lesion and no germ line mutations.