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Introduction Mucopolysaccharidosis (MPS) IIIB is a lysosomal disorder in which a deficiency in α-N-acetylglucosaminidase impairs the degradation of heparan sulphate, which accumulates in tissues causing multiple organs dysfunction. This disease is associated with significant central nervous system (CNS) abnormalities, but a presentation with a tumour-like lesion has never been reported so far. Clinical presentation The present report describes the case of a 5-year-old girl suffering from MPS IIIB who developed a cerebellar lesion with evident mass effect. She underwent surgery with a subsequent notable improvement of her clinical picture. Surprisingly, the pathological analysis revealed the lesion to have the typical MPS features. Conclusion This case would describe a neglected possible presentation of MPS IIIB with a lesion mimicking a neoplasm, which could even be successfully treated with surgery.

Background: Primary biliary cirrhosis (PBC), a chronic cholestatic liver disease, is frequently associated with severe hypercholesterolaemia but the clinical significance of this finding is unclear. Aims: To characterise changes in serum lipid profile over time and to assess the risk of cardiovascular disease in PBC. Subjects and methods: We studied a cohort of 400 PBC patients for 6.2 years (range 4 months to 24 years) by serial determinations of serum lipid levels and registration of all cardiovascular events. Subjects included in an Italian prospective population based study served as controls. Results: At presentation, 76% of patients had serum cholesterol levels >5.2 mmol/l. Hyperbilirubinaemic patients had higher total cholesterol and lower high density lipoprotein (HDL) cholesterol levels (p<0.001). With time, disease progression was associated with a reduction in total (p<0.001) and HDL (p<0.05) cholesterol. The incidence of cardiovascular events was similar to that of the general population (cerebrovascular events: standardised ratio 1.4; 95% confidence interval 0.5–3.7; coronary events: 2.2; 0.9–4.3). Hypertension was associated with an increased risk of cardiovascular events (3.8; 1.6–8.9). Association with moderate hypercholesterolaemia was of borderline significance (3.8; 0.9–17) whereas severe hypercholesterolaemia was not associated with increased risk (2.4, 0.5–11). Conclusions: In PBC, serum cholesterol levels markedly increase with worsening of cholestasis, and decrease in the late disease stages, despite a severe reduction in biliary secretion. Marked hypercholesterolaemia, typical of severe longstanding cholestasis, is not associated with an excess risk of cardiovascular disease while less advanced patients with moderate hypercholesterolaemia are exposed to an increased cardiovascular risk. Putative protective factors in PBC patients with severe hypercholesterolaemia should be assessed.

Background Data on the benefits of synbiotics in functional constipation are conflicting. The aim of this study was to assess whether the administration of the synbiotic supplement Psyllogel Megafermenti ® normalized stool consistency and decreased intestinal transit time (ITT) in patients with severe functional constipation, based on its ability to impact on the gut microbiota. Methods We conducted a pilot randomized, double-blind, controlled trial. After a 2-week run-in period, patients from a tertiary care setting with severe functional constipation fulfilling the Rome III Diagnostic Criteria in the past year were randomly assigned to receive by mouth 2 bags/day of Psyllogel Megafermenti ® (Group A) or 2.8 g of maltodextrin twice daily (Group B) for 8 weeks. Primary endpoints were increase of bowel evacuations with normal stool consistency and volume, and ITT reduction. Secondary endpoints included symptom improvement according to the Rome III Diagnostic Criteria, reduction of the Agachan–Wexner score and changes in gut microbiota composition. Results Twenty-nine patients completed the study: 17 were allocated to Group A and 12 to Group B. A statistically significant increase in stools with normal consistency was observed only in Group A ( p  = 0.001), even when considering patients with normal stools ≤50 % of time at baseline. In Group A, a significant reduction in ITT was also found ( p  = 0.022). According to polymerase chain reaction–denaturing gradient gel electrophoresis profiling of stool samples, 50 % of the patients treated with synbiotics harbored all the probiotic species of the study product. Conclusions An 8-week treatment with Psyllogel Megafermenti ® improved the main clinical parameters of functional constipation in patients extremely homogeneous for disorder severity and underlying pathophysiology ( Eudract.ema.europa.eu , No. 2008-000913-30).

Background Due to the lack of high-quality evidence which has hindered the development of evidence-based guidelines, there is a need to provide general guidance on cranioplasty (CP) following traumatic brain injury (TBI), as well as identify areas of ongoing uncertainty via a consensus-based approach. Methods The international consensus meeting on post-traumatic CP was held during the International Conference on Recent Advances in Neurotraumatology (ICRAN), in Naples, Italy, in June 2018. This meeting was endorsed by the Neurotrauma Committee of the World Federation of Neurosurgical Societies (WFNS), the NIHR Global Health Research Group on Neurotrauma, and several other neurotrauma organizations. Discussions and voting were organized around 5 pre-specified themes: (1) indications and technique, (2) materials, (3) timing, (4) hydrocephalus, and (5) paediatric CP. Results The participants discussed published evidence on each topic and proposed consensus statements, which were subject to ratification using anonymous real-time voting. Statements required an agreement threshold of more than 70% for inclusion in the final recommendations. Conclusions This document is the first set of practical consensus-based clinical recommendations on post-traumatic CP, focusing on timing, materials, complications, and surgical procedures. Future research directions are also presented.

Endoscopic transorbital approaches (ETOAs) are finding wide application for skull base lesions, particularly for spheno-orbital meningiomas (SOMs). These tumors have high recurrence rates, and second surgery can often represent a challenge. In this study we analyze our experience of management of recurrent SOMs through a slightly modified eyelid crease approach. Between May 2016 and September 2023, in the Department of Neurosurgery of Fondazione IRCCS Policlinico San Matteo (Pavia, Italy), five consecutive recurrent SOMs have been treated using an endoscopic transorbital approach. Demographic data, preoperatory deficits, lesions characteristics, histology, grade of resection, eventual adjuvant treatments, complications, outcome in terms of symptoms improvement and cosmesis, and hospitalization are described. One patient maintained a right lateral rectus muscle palsy that was already present in the preoperatory, no cerebrospinal fluid (CSF) leaks were reported. All patients had postoperative periorbital edema, but no other systemic complication was found. All patients had proptosis improvement, two had visual acuity improvement, and best cosmetic outcome was obtained in all cases. Hospitalization varied between 4 and 6 days. ETOAs in the management of recurrent SOMs are safe and have good outcome. Right selection of patients is mandatory, but when feasible, endoscopic surgery can allow a virgin route to a previously operated tumor, guaranteeing a good strategic option.

Although the majority of people worldwide are bilingual, the brain representation of language in bilingual persons is still a matter of debate. Since the beginning of the studies conducted on bilinguals, most authors denied that learning a new language requires a new semantic processing or the involvement of new cortical areas. In this paper, we review neurosurgical studies using direct electrocortical or subcortical stimulation techniques for brain mapping in bilingual subjects and compare this data with that obtained from other brain mapping methods. The authors focused on the most controversial issue whether multiple languages are represented in common or distinct cerebral areas. Seven direct brain mapping studies from different teams focused on bilingualism and multilingualism. All these studies showed that even if cerebral representation of language in multilingual patients could be grossly located in the same cortical region, it was possible to individualise distinct language-specific areas by direct cortical stimulation in the dominant frontal and temporo-parietal regions. Task- and language-specific sites were also described, demonstrating an important specialisation of some cortical areas. Using subcortical stimulation, some authors were able to find specific white matter tracts for different languages. Finally, all authors recommend in bilingual patients who need brain mapping for neurosurgical purpose to test all languages in which the subjects are fluent.

Abstract OBJECTIVE Language functional magnetic resonance imaging (fMRI) has been used extensively in the past decade for both clinical and research purposes. Its integration in the preoperative imaging assessment of brain lesions involving eloquent areas is progressively more diffused in neurosurgical practice. Nevertheless, the reliability of language fMRI is unclear. To understand the reliability of preoperative language fMRI in patients operated on for brain tumors, the surgical studies that compared language fMRI with direct cortical stimulation (DCS) were reviewed. METHODS Articles comparing language fMRI with DCS of language areas were reviewed with attention to the lesion pathology, the magnetic field, the language tasks used pre- and intraoperatively, and the validation modalities adopted to establish the reliability of language fMRI. We tried to explore the effectiveness of language fMRI in gliomas. RESULTS Nine language brain mapping studies compared the findings of fMRI with those of DCS. The studies are not homogeneous for tumor types, magnetic fields, pre- and intraoperative language tasks, intraoperative matching criteria, and results. Sensitivity and specificity were calculated in 5 studies (respectively ranging from 59% to 100% and from 0% to 97%). CONCLUSION The contradictory results of these studies do not allow consideration of language fMRI as an alternative tool to DCS in brain lesions located in language areas, especially in gliomas because of the pattern of growth of these tumors. However, language fMRI conducted with high magnet fields is a promising brain mapping tool that must be validated by DCS in methodological robust studies.

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. Methods For this systematic review, we searched PubMed, Scopus, and Embase databases, and forward and backward citations for studies published between database inception and July 31st, 2022. We included any article type or congress abstract adding at least a new case, without restrictions of language or publication status, concerning the use of SF in neurosurgical procedures in patients under 18 years of age. We excluded studies concerning purely vascular cases and cerebrospinal fluid leaks. Results Of 4094 records identified, 19 articles were eligible and included for further analysis. As per July 31st, 2022, at least 119 patients aged from 11 months to 17.9 years underwent surgery with SF. No serious adverse events were reported. A large variety of tumor types was operated, in most cases resected under the specific YELLOW 560 nm filter after a low-dose SF injection (2–5 mg/kg) at the end of anesthesia induction. SF was reported particularly useful in gangliogliomas and pilocytic astrocytomas. Discussion/conclusion Given its easy-to-use profile, low cost, and safety, SF seems to be a feasible and valid adjunct in the pediatric population when aiming at individuating a biopsy target or maximizing extent of resection, particularly in some tumor types. Further studies are required to strengthen the evidence on its impact on outcomes.

Preoperative DTI Fiber Tracking (DTI-FT) reconstruction of functional tracts combined with intraoperative subcortical mapping (ISM) is potentially useful to improve surgical procedures in gliomas located in eloquent areas. Aims of the study are: (1) to evaluate the modifications of fiber trajectory induced by the tumor; (2) to validate preoperative DTI-FT results with intraoperative identification of functional subcortical sites through direct subcortical stimulation; (3) to evaluate the impact of preoperative DTI-FT reconstructions in a neuronavigational setup combined with ISM technique on duration and modalities of surgical procedures, and on functional outcome of the patients. Data are available on 64 patients (52 low-grade and 12 high-grade gliomas). DTI-FT was acquired by a 3-T MR scanner with a single-shot EPI sequence (TR/TE 8986/80 ms, b = 1000 s/mm) with gradients applied along 32 non-collinear directions. 3D Fast Field Echo (FFE) T1-weighted imaging (TR/TE 8/4 ms) was performed for anatomic guidance. The corticospinal tract (CST), superior longitudinal, inferior fronto-occipital and uncinatus fasciculi were reconstructed. Data were transferred to the neuronavigational system. Functional subcortical sites identified during ISM were correlated with fiber tracts depicted by DTI-FT. In high-grade gliomas, DTI-FT depicted tracts mostly at the tumor periphery; in low-grade gliomas, fibers were frequently located inside the tumor mass. There was a high correlation between DTI-FT and ISM (sensitivity for CST = 95%, language tracts = 97%). For a proper reconstruction of the tracts, it was necessary to use a low FA threshold of fiber tracking algorithm and to position additional regions of interest (ROIs). The combination of DTI-FT and ISM decreased the duration of surgery, patient fatigue, and intraoperative seizures. Combination of DTI-FT and ISM allows accurate identification of eloquent fiber tracts and enhances surgical performance and safety maintaining a high rate of functional preservation.