Publications by authors named "Martina Fragola"

Objective: Cerebral cavernous malformations (CCMs) are cerebral vascular lesions that occasionally occur with seizures. We present a retrospective case series from IRCCS Gaslini Children's Hospital, a systematic review, and meta-analysis of the literature with the goal of elucidating the post-surgery seizure outcome in children with CCMs.

Methods: a retrospective review of children with cavernous malformation related epilepsy who underwent surgery at Gaslini Children's Hospital from 2005 to 2022 was conducted.

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Article Synopsis
  • The study investigates the potential role of variants in the HLA region in contributing to neuroblastoma (NB) susceptibility, utilizing genetic data from 724 NB patients and 2863 matched controls.
  • Researchers employed whole-exome sequencing and multiple typing tools to accurately identify HLA alleles and ensured sample quality by matching ancestry, finding significant associations with certain HLA alleles (HLA-DQB1*05:02 and HLA-DRB1*16:01) linked to increased NB risk.
  • A risk score based on five HLA variants showed strong predictive value for patient survival, independent of traditional prognostic factors, indicating complex genetic interactions that warrant further investigation.
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Introduction: Treatment with [I]mIBG is commonly used in pediatric metastatic neuroblastoma (NB); however, unbound [I]I might be taken up by the thyroid, causing hypothyroidism. To prevent this occurrence, thyroid blockade with iodine salts is commonly used; despite this precaution, thyroid dysfunction still occurs. This review and meta-analysis aim to clarify the mean frequency of hypothyroidism in children with NB treated with [I]mIBG and to investigate the possible causes.

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Chromosomal instability (CIN) induces a high rate of losses or gains of whole chromosomes or parts of chromosomes. It is a hallmark of most human cancers and one of the causes of aneuploidy and intra-tumor heterogeneity. The present study aimed to evaluate the potential prognostic role of CIN in NB patients at diagnosis.

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Introduction: Between 5 and 15% of children with neuroblastoma (NB) present with or develop spinal canal invasion (SCI). The majority of these children have symptoms of epidural compression of spinal cord and/or spinal nerves. Treatment of NB-SCI is considered an emergency but its modalities are not yet well-established.

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Monogenic diabetes is a rare form of diabetes, accounting for approximately 1% to 6% of pediatric diabetes patients. Some types of monogenic diabetes can be misdiagnosed as type 1 diabetes in children or adolescents because of similar clinical features. Identification of the correct etiology of diabetes is crucial for clinical, therapeutic, and prognostic issues.

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