Li-Fraumeni syndrome: a germline splice variant reveals a novel physiological alternative transcript.

Background: Li-Fraumeni syndrome (LFS) predisposes individuals to a wide range of cancers from childhood onwards, underscoring the crucial need for accurate interpretation of germline variants for optimal clinical management of patients and families. Several unclassified variants, particularly those potentially affecting splicing, require specialised testing. One such example is the NM_000546.

Dura Opening in Cases with Acute Traumatic Subdural Hemorrhage.

The most common pathophysiological etiology of traumatic subdural hematoma is the rupture of bridging veins that drain the venous blood from the brain parenchyma into the superior sagittal sinus. Treatment of choice for such a hematoma would be craniotomy and evacuation. Opening dura in a stellate fashion during in acute traumatic subdural hematoma surgery might decrease the risk of added injury to bridging veins and decrease possible morbidity due to brain edema.

Preventing Wrong-Level Spine Surgery.

Importance: Wrong-level spine surgery (WLSS), a medical error in which a surgeon operates at an unintended vertebral level, is considered a "never event." However, it continues to be a problem in spine surgery today despite the implementation of preventive measures such as the Universal Protocol. The consequences of this event are severe for both the afflicted patient and the treating physician and may result not only in physical harm but also in costly medicolegal proceedings.

Loss of the ipsilateral silent period in amyotrophic lateral sclerosis is associated with reduced white matter integrity in the motor section of the corpus callosum.

Objective: Interhemispheric neurons in the motor section of the corpus callosum have an inhibitory effect on neurons of the contralateral motor cortex. Three quarters of patients with amyotrophic laterals sclerosis (ALS) show impaired transcallosal inhibition. We aimed to investigate whether structural changes co-occur with this functional impairment and to explore its phenotypic correlates.

Fluorescence guidance in skull base surgery: Applications and limitations - A systematic review.

Introduction: Intraoperative fluorescence guidance is a well-established surgical adjunct in high-grade glioma surgery. In contrast, the clinical use of such dyes and technology has been scarcely reported in skull base surgery.

Research Question: We aimed to systematically review the clinical applications of different fluorophores in both open and endonasal skull base surgery.

Intramedullary Metastases to Conus Medullaris: A Review of the Literature with a Case Illustration.

Intramedullary metastases to the conus medullaris spinalis (IMCM) pose a rare problem in neurosurgical oncology and are usually encountered as a complicated clinical scenario in the setting of advanced systemic malignancy with poor overall survival. Despite the progress in interdisciplinary oncological care, their management remains complicated. We performed a PRISMA-guided literature search to achieve a pooled analysis of all previously reported IMCM cases that contained detailed clinical data on this problem to investigate the currently employed management options and respective outcomes.

Cerebral glucose metabolic correlates of cognitive and behavioural impairments in amyotrophic lateral sclerosis.

Objective: Half of ALS patients are cognitively and/or behaviourally impaired. As cognition/behaviour and cerebral glucose metabolism can be correlated by means of F-Fluorodeoxyglucose positron emission tomography (FDG-PET), we aimed to utilise FDG-PET, first, to replicate group-level differences in glucose metabolism between non-demented ALS patients separated into non-impaired (ALSni), cognitively impaired (ALSci), behaviourally impaired (ALSbi), and cognitively and behaviourally impaired (ALScbi) groups; second, to investigate glucose metabolism and performance in various cognitive domains; and third, to examine the impact of partial volume effects correction (PVEC) of the FDG-PET data on the results.

Methods: We analysed neuropsychological, clinical, and imaging data from 67 ALS patients (30 ALSni, 21 ALSci, 5 ALSbi, and 11 ALScbi).

Cerebrospinal fluid galactomannan detection for the diagnosis of central nervous system aspergillosis: a diagnostic test accuracy systematic review and meta-analysis.

Background: Cerebrospinal fluid (CSF) galactomannan is an adjunctive test for central nervous system (CNS) aspergillosis diagnosis with unclear diagnostic test characteristics.

Objectives: To evaluate the diagnostic test characteristics of CSF galactomannan in CNS aspergillosis.

Methods: Systematic review and meta-analysis.

Effect of neurosurgical residency programs on neurosurgical patient outcomes in a single health care system: a cohort study.

Background: The evidence on the benefits and drawbacks of involving neurosurgical residents in the care of patients who undergo neurosurgical procedures is heterogeneous. We assessed the effect of neurosurgical residency programs on the outcomes of such patients in a large single-payer public health care system.

Methods: Ten population-based cohorts of adult patients in Ontario who received neurosurgical care from 2013 to 2017 were identified on the basis of procedural codes, and the cohorts were followed in administrative health data sources.

Verbal expressive language minimally affected in non-demented people living with amyotrophic lateral sclerosis.

Language dysfunction is one of the most common cognitive impairments in amyotrophic lateral sclerosis (ALS). Although discourse capacities are essential for daily functioning, verbal expressive language has not been widely investigated in ALS. The existing research available suggests that discourse impairments are prevalent.

Investing in Child Health Through Alternative Payment Models: Lessons From North Carolina Integrated Care for Kids.

Pediatric value-based payment reform has been hindered by limited return on investment (ROI) for child-focused measures and the accrual of financial benefits to non-health care sectors. States participating in the federally-funded Integrated Care for Kids (InCK) models are required to design child-centered alternative payment models (APMs) for Medicaid-enrolled children. The North Carolina InCK pediatric APM launched in January 2023 and includes innovative measures focused on school readiness and social needs.

Significant Systemic Insulin Resistance is Associated With Unique Glioblastoma Multiforme Phenotype.

Background: Some glioblastoma multiforme (GBM) are characterized by the presence of gemistocytes (GCs), a unique phenotype of reactive astrocytes. Certain GCs can be identified as neoplastic cells but these cells were also found to be associated with diabetes in non-neoplastic lesions of the central nervous system. Our aim was to find a correlation between insulin - resistance metabolic features and the presence of GCs in patients with newly diagnosed GBM.

Through the orbit and beyond: Current state and future perspectives in endoscopic orbital surgery on behalf of the EANS frontiers committee in orbital tumors and the EANS skull base section.

Introduction: Orbital surgery has always been disputed among specialists, mainly neurosurgeons, otorhinolaryngologists, maxillofacial surgeons and ophthalmologists. The orbit is a borderland between intra- and extracranial compartments; Krönlein's lateral orbitotomy and the orbitozygomatic infratemporal approach are the historical milestones of modern orbital-cranial surgery.

Research Question: Since its first implementation, endoscopy has significantly impacted neurosurgery, changing perspectives and approaches to the skull base.

Surgical Management of Meningiomas Involving the Torcula, Transverse Sinus, and Jugular Bulb: A Technical Note and Review of the Literature.

Meningiomas that invade the confluens sinuum are rare and require extensive preoperative planning. Here, we describe the surgical and radio-oncological management of an aggressive large occipital meningioma invading the superior sagittal sinus, torcula, right and left transverse sinus down to the level of the jugular bulb in a 21-year-old female patient. Details of the surgical approach are presented to highlight the planned staged resection of this tumor at the level of the torcula to initially debulk the lesion while preserving venous outflow through the patent's sinus.

From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis.

On February 23 1936, a boy-child ("Kn") died in an asylum near Munich after years of severe congenital disease, which had profoundly impaired his development leading to inability to walk, talk and see as well as to severe epilepsy. While a diagnosis of "Little's disease" was made during life, his postmortem brain investigation at Munich neuropathology ("Deutsche Forschungsanstalt für Psychiatrie") revealed the diagnosis of "amaurotic idiocy" (AI). AI, as exemplified by Tay-Sachs-Disease (TSD), back then was not yet understood as a specific inborn error of metabolism encompassing several disease entities.

Wrong-Level Spine Surgery: Introduction of a Protocol for Avoidance of This Complication.

Wrong-level spine surgery, in which an operation is performed at a vertebral level different from the intended one, is a rare but serious complication with wide-ranging medical and legal effects. Although many protocols have been developed to prevent such a serious unfavorable event, the problem has not yet been eliminated. Research into the effectiveness of strategies to prevent wrong-level spine surgery is lacking.

PROSA-a multicenter prospective observational study to develop low-burden digital speech biomarkers in ALS and FTD.

There is a need for novel biomarkers that can indicate disease state, project disease progression, or assess response to treatment for amyotrophic lateral sclerosis (ALS) and associated neurodegenerative diseases such as frontotemporal dementia (FTD). Digital biomarkers are especially promising as they can be collected non-invasively and at low burden for patients. Speech biomarkers have the potential to objectively measure cognitive, motor as well as respiratory symptoms at low-cost and in a remote fashion using widely available technology such as telephone calls.

Surgical Morbidity in Relation to the Surgical Approach for Olfactory Groove Meningiomas-A Pooled Analysis of 1016 Patients and Proposal of a New Reporting System.

: There is currently no consensus in the field regarding whether a frontal or lateral approach is superior for microsurgical resection of olfactory groove meningiomas (OGM). Due to the lack of uniformity in classifying lesions and inherent differences in reporting outcomes after varying operative approaches, the best practice for approaching these lesions is yet to be determined. : This study aimed to assess various surgical approaches undertaken for OGMs, investigate procedural aspects influencing the extent of resection, and analyze the respective complication rate associated with each approach.