Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.

New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.

Noonan syndrome and related disorders are a group of well-known genetic conditions caused by dysregulation of the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway. Because of the overlap of clinical and molecular features, they are now called RASopathies. In this study, we retrospectively analyzed the clinical data of 121 patients with a molecularly confirmed diagnosis of RASopathy, describing frequencies for clinical features in all organ systems as well as molecular data.

Transcanal transpromontorial approach for vestibular schwannoma: experience of a single center.

Background: The expanded transpromontorial transcanal approach (ExpTTA) represents a recent addition to the surgical approaches available for the treatment of vestibular schwannoma. An initial purely endoscopic version has been complemented by the use of the microscope and it is now one of the possible surgical options for small to medium-sized vestibular schwannomas with a predominantly intracanalar development.

Methods: This is a series of 54 patients who underwent microsurgical resection of sporadic, unilateral vestibular schwannoma, mainly Koos I-II with non-serviceable hearing, between January 2016 and January 2023 using the expanded transcanal transpromontorial approach.

H3 K27M mutation in rosette-forming glioneuronal tumors: a potential diagnostic pitfall.

According to the fifth edition of the World Health Organization (WHO) classification of tumors of the central nervous system (CNS), diffuse midline glioma H3 K27-altered is a grade 4 infiltrative glioma that arises from midline anatomical structures and is characterized by the loss of H3 K27me3 and co-occurring H3 K27M mutation or EZHIP overexpression. However, the H3 K27M mutation has also been observed in circumscribed gliomas and glioneuronal tumors arising in midline anatomical structures, which may result in diagnostic pitfalls.Rosette-forming glioneuronal tumor (RGNT) is a CNS WHO grade 1 neoplasm that histologically features neurocytic and glial components and originates in midline anatomical structures.

CNS tumor with CREBBP::BCORL1 Fusion and pathogenic mutations in BCOR and CREBBP: expanding the spectrum of BCOR-altered tumors.

The fifth edition of the World Health Organization (WHO) classification of central nervous system (CNS) tumors introduced the new tumor type CNS tumor with BCOR internal tandem duplication (ITD), characterized by a distinct DNA methylation profile and peculiar histopathological features, including a circumscribed growth pattern, ependymoma-like perivascular pseudorosettes, microcystic pattern, absent or focal GFAP immunostaining, OLIG2 positivity, and BCOR immunoreactivity. We describe a rare case of a CNS tumor in a 45-year-old man with histopathological and immunohistochemical features overlapping the CNS tumor with BCOR internal tandem duplication (ITD) but lacking BCOR immunostaining and BCOR ITD. Instead, the tumor showed CREBBP::BCORL1 fusion and pathogenic mutations in BCOR and CREBBP, along with a DNA methylation profile matching the "CNS tumor with EP300:BCOR(L1) fusion" methylation class.

Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.

Zhu-Tokita-Takenouchi-Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which is characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital malformations, primarily in the central nervous system, along with ophthalmic, dental, pulmonary, cardiologic, renal, gastrointestinal, and musculoskeletal anomalies. In this study, we describe the first Colombian patient with ZTT harboring a novel mutation that has not been previously reported and review the clinical and molecular features of previously reported patients in the literature.

"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma".

Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with 341 cases enrolled in the CSS/BAF-related disorders registry by 2021. Pathogenic variants of ARID1A account for 7-8% of cases with CSS phenotype. Malignancy has been previously reported in six individuals with CSS associated with BAF mutations.

Extra-axial anaplastic astroblastoma in a 67-year-old woman.

Astroblastoma is a rare glial neoplasia of the central nervous system. It is histologically defined by the presence of neoplastic cells with non- or slightly tapering processes arranged around blood vessels (astroblastic rosettes) and conventionally subdivided into well-differentiated and anaplastic. It commonly affects children and young adults, although cases and due to its superficial location in the brain cortex, it can mimic an extra-axial mass on magnetic resonance imagining.

Is endoscopic inspection necessary to detect residual disease in acoustic neuroma surgery?

Main Goals: To analyze how and when the endoscope is used in vestibular schwannoma surgery and identify the benefits of using endoscopy in this type of surgery.

Background: It is currently unclear if there is any benefit from using an endoscope in vestibular schwannoma surgery so this retrospective analysis set out to study this.

Methods: All the patients who underwent vestibular schwannoma surgery at our clinic were included for all the vestibular schwannoma approaches taken.

Hearing Restoration During Vestibular Schwannoma Surgery With Transcanal Approach: Anatomical and Functional Preliminary Report.

Objective: Hearing restoration has always been a dream in vestibular schwannoma (VS) surgery. The aim of this study is to describe an endoscopic assisted transcanal retrocochlear approach to the internal auditory canal (IAC) with total removal of the VS; simultaneously we assessed the anatomical and functional aspects of hearing restoration with cochlear implant (CI).

Study Design: A retrospective case series.

Transcanal Transpromontorial Acoustic Neuroma Surgery: Results and Facial Nerve Outcomes.

Background: Recently, the transcanal approach for the removal of acoustic neuromas has been introduced. Facial nerve (FN) preservation is one of the main challenges of this kind of surgery.

Objective: To describe our experience in the surgical treatment of acoustic neuromas, focusing on the functional results of FN preservation after a transcanal approach.

[16p11.2 Microdeletion: first report in Argentina].

The 16p11.2 recurrent microdeletion phenotype is characterized by developmental delay, intellectual disability, and/or autism spectrum disorder. This microdeletion is associated with variable clinical outcome, the phenotypical spectrum ranges from intellectual disability and/or multiple congenital anomalies, autism, learning and speech problems, to a normal Microdeleción 16p11.

Expanded transcanal transpromontorial approach to the internal auditory canal: Pilot clinical experience.

Objectives/hypothesis: The aim of this study was to describe and evaluate the feasibility of an expanded transcanal transpromontorial approach, developed from the exclusive endoscopic transcanal transpromontorial approach.

Study Design: Retrospective case series.

Methods: Retrospective chart review of 10 patients operated by an expanded transcanal transpromontorial approach in two tertiary referral centers (University Hospital of Modena, Italy and University Hospital of Verona, Italy).

The Fully Endoscopic Acoustic Neuroma Surgery.

Surgical approaches to vestibular schwannomas (VS) are widely known and extensively recorded. For the first time, an exclusive endoscopic approach to the internal acoustic canal (IAC) was described and used to safely remove a cochlear schwannoma involving IAC in March 2012. The aim of this article was to summarize indications and technique to treat intracanalicular VS by transcanal/transpromontorial endoscopic approach.

Exclusive endoscopic transcanal transpromontorial approach: a new perspective for internal auditory canal vestibular schwannoma treatment.

OBJECTIVE The aim of this study was to describe the first case series in which an exclusive endoscopic transcanal transpromontorial approach (EETTA) was used to treat small vestibular schwannomas (VSs) and meningiomas of the internal auditory canal (IAC). METHODS The authors performed a retrospective review of patients who had undergone surgery using an EETTA to the IAC at 2 university tertiary care referral centers during the period from November 2011 to January 2015. RESULTS Ten patients underwent surgery via an EETTA for the treatment of VS in the IAC at the University Hospital of Modena or the University Hospital of Verona.

Adjuvant chemotherapy in adult medulloblastoma: is it an option for average-risk patients?

The standard treatment in children with average-risk medulloblastoma (MB) is reduced-dose radiotherapy (RT) followed by chemotherapy. However, in adults, there is no agreement on the use of adjuvant chemotherapy. We performed a retrospective analysis of adult MB patients with average-risk disease, defined as no postsurgical residual (or ≤1.

New perspectives in the treatment of adult medulloblastoma in the era of molecular oncology.

Medulloblastoma is the most common central nervous system tumor in children, while it is extremely rare in adults. Multimodal treatment involving surgery, radiotherapy and chemotherapy can improve the prognosis of this disease, and recent advances in molecular biology have allowed the identification of molecular subgroups (WNT, SHH, Groups 3 and 4), each of which have different cytogenetic, mutational and gene expression signatures, demographics, histology and prognosis. The present review focuses on the state of the art for adult medulloblastoma treatment and on novel molecular advances and their future implications in the treatment of this disease.

Trigeminal laser-evoked potentials: a neurophysiological tool to detect post-surgical outcome in trigeminovascular contact neuralgia.

Background: The aim of this study was to explore the nociceptive system of patients affected by trigeminal neuralgia (TN) secondary to documented vascular contact who underwent microvascular decompression. For that purpose, we used the classical trigeminal reflexes and the trigeminal laser-evoked potentials (tLEPs) before and after surgery, in order to verify any possible change after decompression and determine if there was any correlation between the neurophysiological parameters and the clinical outcome.

Methods: Eleven patients affected by TN caused by trigeminovascular contact and 10 age-matched controls underwent conventional trigeminal reflexes (bilateral Blink Reflex/BR and Masseter Inhibitory Reflex stimulating infraorbital and mental nerves/MIR V2 and V3) and tLEPs.

Surgical management of ventral and ventrolateral foramen magnum meningiomas: report on a 64-case series and review of the literature.

Foramen magnum meningioma poses a challenge for neurosurgeons. Prognosis has generally improved with diagnostic and surgical advances over the past two decades; however, it may ultimately depend more on the surgeon's ability to tailor the approach and interpret intraoperative risks in single cases. The series comprised 64 patients operated on for ventral and ventrolateral foramen magnum meningioma.

Intrathecal liposomal cytarabine in combination with temozolomide in low-grade oligoastrocytoma with leptomeningeal dissemination.

Leptomeningeal dissemination of low-grade gliomas is an uncommon event. A 43-year old male presented with dizziness, gait ataxia, and diplopia. A nonenhancing lesion in the right cerebellar peduncle was identified, subtotally resected, and diagnosed as a grade II astrocytoma.

The first successful case of hearing produced by electrical stimulation of the human midbrain.

Hypothesis: Electrical stimulation of the inferior colliculus in the midbrain can provide a safe and efficacious alternative to auditory brainstem implants (ABIs).

Background: Patients with neurofibromatosis type 2 (NF2) receive limited speech recognition with ABIs. Some ABI patients without NF2 can achieve excellent speech understanding, suggesting that the limited NF2 performance is due to brainstem damage from the tumor and its removal.