Timeline of diagnosed pain causes in children with severe neurological impairment.

Objective: Pain's causes in children with severe cognitive impairment may be challenging to diagnose. This study aimed to investigate if there is a relationship between pain causes and the age of children.

Methods: We conducted a multicenter retrospective study in three Italian Pediatric Units.

Neuroblastic tumors and neurofibromatosis type 1: A retrospective multicenter study in Italy and systematic review of the literature.

Background: Neuroblastic tumors (NBTs) are the most common extra-cranial solid tumors of childhood. Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disorder with a predisposition to tumors. The co-occurrence of NBTs in the setting of NF1 has been occasionally reported, suggesting a non-casual association and likely configuring a spectrum of neural crest-derived disorders.

A Targeted Gene Panel for Circulating Tumor DNA Sequencing in Neuroblastoma.

Background: Liquid biopsies do not reflect the complete mutation profile of the tumor but have the potential to identify actionable mutations when tumor biopsies are not available as well as variants with low allele frequency. Most retrospective studies conducted in small cohorts of pediatric cancers have illustrated that the technology yield substantial potential in neuroblastoma.

Aim: The molecular landscape of neuroblastoma harbors potentially actionable genomic alterations.

Stage 4 s neuroblastoma: features, management and outcome of 268 cases from the Italian Neuroblastoma Registry.

Background: Infants diagnosed with stage 4 s neuroblastoma commonly experience spontaneous disease regression, with few succumbing without response to therapy. We analyzed a large cohort of such infants enrolled in the Italian Neuroblastoma Registry to detect changes over time in presenting features, treatment and outcome.

Methods: Of 3355 subjects aged 0-18 years with previously untreated neuroblastoma diagnosed between 1979 and 2013, a total of 280 infants (8.

Neuroblastoma presenting with symptoms of epidural compression at birth: a case report.

Background: Five to 10 % of children with neuroblastoma present with symptoms of epidural compression (EC). More than half these patients are diagnosed in the first year of life. The case of a neuroblastoma presenting symptoms of EC at birth is exceptional and deserves to be reported.

An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma.

Background: The prognosis of children with metastatic stage 4 neuroblastoma (NB) has remained poor in the past decade.

Patients And Methods: Using microarray analyses of 342 primary tumors, we here developed and validated an easy to use gene expression-based risk score including 18 genes, which can robustly predict the outcome of stage 4 patients.

Results: This classifier was a significant predictor of overall survival in two independent validation cohorts [cohort 1 (n = 214): P = 6.

Neuroblastoma with symptomatic epidural compression in the infant: the AIEOP experience.

Background: Symptoms of epidural compression (SEC) in children with neuroblastoma (particularly infants) may be misinterpreted, leading to delay in diagnosis.

Patients And Methods: Clinical, imaging and follow-up data of 34 infants with neuroblastoma and SEC diagnosed between 2000 and 2011 at Italian AIEOP centers were retrieved and reviewed.

Results: Median age at initial SEC was 104 days (IQR 47-234).

Symptomatic epidural compression in infants with neuroblastoma: a single-center experience with 5 cases.

Infants affected by neuroblastoma with symptomatic epidural compression require early diagnosis and appropriate treatment to avoid severe late complications. However, no established guidelines are available regarding the optimal treatment of these patients. We describe 5 such infants.

CNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura.

Immune thrombocytopenic purpura is an acquired autoimmune disorder that is the most common cause of thrombocytopenia in children. The endocannabinoid system is involved in immune regulation. We evaluated a common missense variant (CAA/CGG; Q63R) of the gene encoding the cannabinoid receptor type 2 (GeneID 1269) in 190 children with immune thrombocytopenic purpura and 600 healthy controls.