Publications by authors named "Federico DI Rocco"

Background: Brain tumors are the deadliest solid tumors in children and adolescents. Most of these tumors are glial in origin and exhibit strong heterogeneity, hampering the development of effective therapeutic strategies. In the past decades, patient-derived tumor organoids (PDT-O) have emerged as powerful tools for modeling tumoral cell diversity and dynamics, and they could then help defining new therapeutic options for pediatric brain tumors.

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Background And Aim: Osteoid osteoma (Oo) and osteoblastoma (Ob) are rare primary bone tumors with a higher prevalence in the second decade of life. Treatment can be conservative, but in cases of spinal location, resective surgery is of great importance but may be challenging.

Material And Methods: We report four pediatric cases of Oo and Ob managed in our unit, with different locations at the level of the cervical spine.

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Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

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Introduction: Paediatric CSF shunt infection rate remains a well-known complication that is not only responsible of potentially severe sequels for patients but also for economical expenses. In that study, we questioned if it is possible to attain the zero percent rate of infection that should be the goal of every paediatric neurosurgeon.

Methods: We report our series of patients treated with a CSF device from January the first 2016 to December 31 2018.

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Background: The microscope has been the gold standard in neurosurgical practice due to its ability to magnify anatomical structures. However, it has limitations, including restricted visual fields and ergonomic challenges that can lead to surgeon fatigue and musculoskeletal issues. The exoscope is an emerging technology that may address these limitations by offering comparable magnification with improved ergonomics.

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Purpose: This study aims to evaluate the effectiveness of the Piezosurgery® device in endoscopic-assisted correction of trigonocephaly. Trigonocephaly is a type of craniosynostosis characterized by a triangular-shaped forehead due to the premature fusion of the metopic suture. Traditional open cranial vault reconstruction, although common, is invasive and poses risks.

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Positional plagiocephaly is a deformational cranial flattening frequently treated in pediatric neurosurgical practice. Positional maneuvers and orthotic helmet therapy are preferred therapeutic options for moderate-to-severe forms. Treatment response seems to be age-dependent.

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Purpose: Complete surgical resection is still the mainstay in the treatment of central nervous system low-grade tumors, eventually resulting curative. The complete surgical removal of these lesions, however, may be difficult in some cases because of their infiltrative nature. Intraoperative adjuncts may be a game changer.

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Purpose: MRI is the main imaging modality for pediatric brain tumors, but amino acid PET can provide additional information. Simultaneous PET-MRI acquisition allows to fully assess the tumor and lower the radiation exposure. Although symptomatic posterior fossa tumors are typically resected, the patient management is evolving and will benefit from an improved preoperative tumor characterization.

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Freehand ventriculostomy is a frequent surgical procedure and is among the first ones that junior neurosurgery residents learn. Although training simulators exist, none has been adopted in the clinical routine to train junior residents. This paper focuses on a novel multimodal haptic training simulator that will lift the limitations of current simulators.

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Introduction: Brainstem tumors represent a challenge. Their management and prognosis vary according to anatomopathological findings and genetic and bio-molecular fingerprints. We present our experience with pediatric brainstem tumors.

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Background: Pineal cysts are a rare lesion of the pineal gland. Pineal cysts are benign lesions, generally asymptomatic, and are usually an incidental discovery on MRI performed for other problems. The management of pineal cysts in children remains a matter for debate.

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Background: Two major approaches exist for the surgical removal of pineal region tumors: the supracebellar infratentorial and the sub-occipital transtentorial.

Methods: We present the Lyon's technique of the sub-occipital transtentorial approach for pineal region tumors and our tricks to avoid complications. The principle is to expose the pineal region under the occipital lobe and not through the interhemispheric fissure.

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Very few clinical entities have undergone so many different treatment approaches over such a short period of time as craniosynostosis. Surgical treatments for this condition have ranged from simple linear craniectomies, accounting for the specific role of cranial sutures in assuring the normal growth of the skull, to more complex cranial vault reconstructions, based on the perceived role of the skull base in affecting the growth of the skull. While a great deal of evolution has occurred, there remains controversy regarding the ideal treatment including the best surgical technique, the optimal age for surgery, and the long-term morphological and neurodevelopmental outcomes.

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Many tools and techniques have been developed to obtain maximal safe tumoral resection in neurosurgery. Fluorescent dyes, including sodium fluorescein, have become also part of this armamentarium to localize the lesion and its boundaries peroperatively. Considering its alleged safety profile and its ability to diffuse in areas of altered blood-brain barrier, a typical characteristic of a number of both benign and malignant pediatric tumors, sodium fluorescein may appear an ideal candidate as intraoperative adjunct in pediatric neurosurgery.

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Context: Endocrine complications are common in pediatric brain tumor patients.

Objective: To describe hypothalamic-pituitary-gonadal axis (HPGA) function in patients treated in childhood for a primary brain tumor more than 5 years earlier, in order to identify risk factors for HPGA impairment.

Methods: We retrospectively included 204 patients diagnosed with a primary brain tumor before 18 years of age and monitored at the pediatric endocrinology unit of the Necker Enfants-Malades University Hospital (Paris, France) between January 2010 and December 2015.

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Article Synopsis
  • The study investigates the genetic factors in infants with isolated sagittal and metopic craniosynostosis, finding that nearly 13% carry gene variants linked to the condition.
  • A total of 101 infants were examined, revealing variants in several genes including SMAD6, FGFR2, and others, with SMAD6 variants particularly associated with language delays in neurodevelopmental testing.
  • The findings underscore the importance of molecular analysis for understanding the genetic underpinnings of isolated craniosynostosis and highlight the need to consider incomplete penetrance in gene interpretation.
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Low-grade gliomas are among the most common CNS lesions in pediatrics and surgery is often the first-line treatment. Intraoperative tools have been developed to maximize the results of surgery, and in particular dyes such as sodium fluorescein (SF) have been investigated in high-grade adult lesions. The use of SF in pediatric low-grade gliomas is still unclear.

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Article Synopsis
  • The study focuses on children with Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP) who also have Chiari Malformation Type 1 (CM1) and undergo surgical treatment, looking to describe surgical outcomes and the genetic factors involved.* -
  • Two cases from a national cohort were reviewed, with tissue samples collected during surgery to analyze PIK3CA variant allele frequency (VAF) in the cerebellum and surrounding tissues, revealing issues like hydrocephalus and syringomyelia.* -
  • Findings suggest that recognizing CM1 in MCAP patients is essential for personalized treatment, as variations in PIK3CA VAF may correlate with the diverse severity of
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Background: Sodium fluorescein (SF) is routinely used in several centers as a valid intraoperative adjunct in adult oncological neurosurgery. Its use in pediatric neurosurgery is increasing, although its role is not yet well-defined in children. We reviewed the current literature in order to evaluate the use of SF in children with CNS and PNS lesions.

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Background: Sodium fluorescein (SF) is currently considered a valid intraoperative adjunct in the resection of high-grade brain lesions in adults. Experiences in pediatric groups and in low-grade gliomas and other low-grade lesions are still limited in literature, and subjective evaluation of fluorescence is still a limitation.

Material And Methods: This study retrospectively reviewed all patients with brain or spine lesions operated on from September 2021 to July 2022 in the Pediatric Neurosurgery Unit of Hôpital Femme Mère Enfant, Lyon, who had received 5 mg/kg of 10%.

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Background: Though the neurosurgeon's role in non-accidental head injury (NAHT) is the prompt recognition and care of the inflicted injuries, he/she should be aware of the possible legal implications related to this particular neurosurgical condition.

Material And Methods: Based on published data and their own clinical and medico-legal practice, the authors review the role of the neurosurgeon in NHAT.

Results: Besides the contribution that can be given by the neurosurgeon to a correct differential diagnosis, he/she is likely to be involved in the interpretations of the pathological findings in the case where the judge may request for a medical opinion concerning etiology, circumstances, severity, and consequences.

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Introduction: Pineal tumors are rare and their incidence is of 1% among all pediatric tumors of the central nervous system. Patient survival depends on the histology, the extension of the surgical removal, and the efficacy of the complementary treatment (chemotherapy and cranio-spinal irradiation), as well as the age of the patient.

Materials And Methods: In this study, we analyzed 151 pediatric patients treated for pineal tumors from 1997 to 2020 in Lyon, France.

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Article Synopsis
  • Abusive head injuries (AHI) are a leading cause of severe health issues and fatalities in infants due to head trauma.
  • The authors explore the historical context of AHI, including shaken baby syndrome (SBS), while addressing the current epidemic of denialism that hinders scientific progress and diagnosis.
  • They emphasize that denying SBS is harmful as it affects prevention efforts, and advocate for the involvement of pediatric neurosurgeons in addressing AHI as part of a broader battle against child abuse and domestic violence.
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