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OBJECT Rubinstein-Taybi syndrome (RSTS) is a rare condition with characteristic genetic and clinical features. The presence of variable vertebral and neural axis abnormalities has been reported in the literature. We describe the possible association of multiple different spinal anomalies in these patients. RESULTS The radiological exams of two RSTS(More)
The oncologic involvement of the spinal cord in neurofibromatosis type 1 (NF1) is not a typical feature of the disease. Here, we present a case of ganglioglioma of the spinal cord in a child with NF1 and try to define if this tumor can be considered coincidental or not. A 4-year-old boy affected by NF1 was diagnosed with a spinal cord-enhancing tumor(More)
BACKGROUND AND PURPOSE For many years deep brain stimulation (DBS) devices relied only on voltage-controlled stimulation (CV), but recently current-controlled devices have been developed and approved for new implants as well as for replacement of CV devices after battery drain. Constant-current (CC) stimulation has been demonstrated to be effective in new(More)
Patients affected by inborn errors of metabolism can develop catastrophic epilepsies ineligible for resective surgery. Few reports concerning vagal nerve stimulation in patients with epileptic encephalopathy in the context of metabolic diseases have been published in the literature. Drug-resistant epilepsies in metabolic disease could be a specific target(More)
Vagal nerve stimulation (VNS) is an effective treatment for drug-resistant epilepsy that is not suitable for resective surgery, both in adults and in children. Few reports describe the adverse effects and complications of VNS. The aim of our study was to present a series of 33 pediatric patients who underwent VNS for drug-resistant epilepsy and to discuss(More)
Asymmetrical N,N-bis(alkanol)amine aryl esters (FRA77, GDE6, and GDE19) are potent multidrug resistance (MDR) reversers. Their structures loosely remind that of the Ca2+ antagonist verapamil. Therefore, the aim of this study was to investigate their vascular activity in vitro. Their effects on the mechanical activity of fresh and cultured rat aorta rings on(More)
BACKGROUND Diffuse Intrinsic Pontine Glioma (DIPG) is a childhood tumor with dismal prognosis. Emerging molecular signatures have paved the way for stereotactic biopsy in selected Centers. We present our experience in DIPG stereotactic needle biopsy using the Robotic Stereotactic Assisted system (ROSA™) in a consecutive pediatric series. METHODS All(More)
The mucopolysaccharidoses (MPS) are multisystemic inherited metabolic diseases caused by the deficiency of the enzymes involved in the degradation of glycosaminoglycans (GAGs), which variably involve the central nervous system, heart, lungs, and bones.Undegraded or only partly degraded GAGs accumulate in the extracellular matrix, joint fluid, and connective(More)