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Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

Categoria: Pubblicazioni

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

Abstract PMID: 33337535 DOI: 10.1007/s00439-020-02231-6 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:WF5omc3nYNoC Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3-5 mm or more, the frequency of which is presumably much higher than one in 1000 births, as previously believed. Its etiology…

Management of orbital and brain complications of sinusitis: A practical algorithm

Management of orbital and brain complications of sinusitis: A practical algorithm

Abstract PMID: 34607756 DOI: 10.1016/j.jcms.2021.09.005 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:Se3iqnhoufwC The aim of this work was to present a practical management algorithm for orbital and brain complications of sinusitis. According to the inclusion criteria, a sample of 68 patients was collected between 2008 and…

Dysembryoplastic neuroepithelial tumors: A single-institutional series with special reference to glutamine synthetase expression

Dysembryoplastic neuroepithelial tumors: A single-institutional series with special reference to glutamine synthetase expression

Abstract PMID: 34182416 DOI: 10.1016/j.anndiagpath.2021.151774 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:roLk4NBRz8UC Dysembryoplastic neuroepithelial tumors (DNT) is a benign (World Health Organisation, WHO, grade I) glioneuronal tumor and it represent one of the most frequent neoplasm in patient affected by seizures. The epileptic neuronal activity can…

Proton therapy: A therapeutic opportunity for aggressive pediatric meningioma

Proton therapy: A therapeutic opportunity for aggressive pediatric meningioma

Abstract PMID: 33682333 DOI: 10.1002/pbc.28919 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:_FxGoFyzp5QC Meningiomas are an extremely rare histology among pediatric brain tumors, and there is a shortage of literature on their management. Proton therapy is currently used safely and effectively for many types of both pediatric…

Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase

Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase

Abstract PMID: 33621827 DOI: 10.1016/j.seizure.2021.02.014 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:ufrVoPGSRksC Purpose: Our purpose was to better understand the pathogenesis of seizures associated with angiocentric glioma. Angiocentric glioma is an indolent and rare low-grade glioma. Its typical clinical presentation is with epileptic seizures. The pathogenesis of…

Endoscopic sinus and skullbase surgery in pediatric patients during the COVID-19 pandemic

Endoscopic sinus and skullbase surgery in pediatric patients during the COVID-19 pandemic

Abstract PMID: 32441149 DOI: 10.1080/02688697.2020.1769554 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:qjMakFHDy7sC On February 20, 2020, the incidence of Covid-19 began to rapidly escalate in Italy. By March 10th, the government announced many restriction measures, hopefully effective for contagious spreading containment. On March 12th, 2020, the…

Integrated proteogenomic characterization across major histological types of pediatric brain cancer

Integrated proteogenomic characterization across major histological types of pediatric brain cancer

PMCID: 33242424 DOI: 10.1016/j.cell.2020.10.044 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:W7OEmFMy1HYC Abstract We report a comprehensive proteogenomics analysis, including whole-genome sequencing, RNA sequencing, and proteomics and phosphoproteomics profiling, of 218 tumors across 7 histological types of childhood brain cancer: low-grade glioma (n = 93), ependymoma…

MODL-26. CHILDREN’S BRAIN TUMOR NETWORK: ACCELERATING RESEARCH THROUGH COLLABORATION AND OPEN-SCIENCE

MODL-26. CHILDREN’S BRAIN TUMOR NETWORK: ACCELERATING RESEARCH THROUGH COLLABORATION AND OPEN-SCIENCE

Abstract PMCID: PMC7715173 DOI: https://doi.org/10.1093%2Fneuonc%2Fnoaa222.599 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&pagesize=80&citation_for_view=70cz3rUAAAAJ:YsMSGLbcyi4C The Children’s Brain Tumor Network (formerly known as Children’s Brain Tumor Consortium- CBTTC) is a global organization pioneering a model of open-science medical research to improve treatment and discover cures. Started in 2011, our…

Current practice in preoperative virtual and physical simulation in neurosurgery

Current practice in preoperative virtual and physical simulation in neurosurgery

Abstract PMID: 31947718 DOI: 10.3390/bioengineering7010007 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:d1gkVwhDpl0C In brain tumor surgery, an appropriate and careful surgical planning process is crucial for surgeons and can determine the success or failure of the surgery. A deep comprehension of spatial relationships between tumor borders…

A diagnostic pitfall: atypical teratoid rhabdoid tumor versus dedifferentiated/poorly differentiated chordoma: analysis of a mono-institutional series

A diagnostic pitfall: atypical teratoid rhabdoid tumor versus dedifferentiated/poorly differentiated chordoma: analysis of a mono-institutional series

Abstract PMID: 28777153 DOI: 10.1097/PAI.0000000000000554 Link: https://scholar.google.com/citations?view_op=view_citation&hl=en&user=70cz3rUAAAAJ&citation_for_view=70cz3rUAAAAJ:9yKSN-GCB0IC Atypical teratoid/rhabdoid tumor (AT/RT) and dedifferentiated/poorly differentiated chordoma are pediatric tumors with some overlapping morphologic, immunohistochemical, and molecular features. Both these tumors have alterations in the tumor suppressor gene SMARCB1 resulting in loss of…