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OBJECTIVE: In this prospective non-randomized study we reported our experience related to planum sphenoidale (PS) and tuberculum sellae (TS) meningiomas in a similar cohort of patients operated via the endonasal or the supraorbital route. A comprehensive quality of life analysis has been performed. METHODS: Being comparable in general features, between November 2017 to January 2020, a total of 20 patients with anterior skull base meningioma were included. Hence, 10 patients were treated using the supraorbital keyhole procedure (SO) while 10 patients received an endoscopic endonasal approach (EEA). Both surgical techniques were analyzed and compared. Quality of life has been analyzed with the SF-36 questionnaire. RESULTS: Twenty patients were identified who underwent either EEA (n=10) or SO (n=10). The average extent of resection achieved was not significantly different between the 2 groups. Post-operatively, the EEA group demonstrated a longer hospital stay and bed days compared with SO patients as well as a longer surgical time. There was a significant rate of more CSF leakage after EEA then after SO (20% vs 0%, p=0,0491). The follow-up period resulted shorter in the SO group, with a slight increased recurrence rate. Overall, no differences in visual outcome were detected. There were no differences in terms of quality of life between the two groups in all the explored items. CONCLUSIONS: In this single-center single-surgeon study of similarly sized and located PS and TS meningiomas, EEA showed longer hospital stays with higher degree of CSF leak compared with the SO group. Supraorbital craniotomy via eyebrow incision reported a comparable quality of life results, even if with a slightly higher percentage of recurrence and less follow-up.
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Neoplasias Meníngeas , Meningioma , Qualidade de Vida , Neoplasias da Base do Crânio , Humanos , Meningioma/cirurgia , Masculino , Feminino , Neoplasias da Base do Crânio/cirurgia , Pessoa de Meia-Idade , Neoplasias Meníngeas/cirurgia , Estudos Prospectivos , Idoso , Tempo de Internação , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/epidemiologia , Adulto , Órbita/cirurgia , Vazamento de Líquido Cefalorraquidiano/etiologia , Vazamento de Líquido Cefalorraquidiano/epidemiologia , Craniotomia/métodos , Cavidade Nasal/cirurgia , Duração da Cirurgia , Neuroendoscopia/métodosRESUMO
Deep brain stimulation (DBS) is an effective treatment for patients with Parkinson's disease (PD). However, some patients may not respond optimally to clinical programming adjustments. Advances in DBS technology have led to more complex and time-consuming programming. Image-guided programming (IGP) could optimize and improve programming leading to better clinical outcomes in patients for whom DBS programming is not ideal due to sub-optimal response. We conducted a prospective single-center study including 31 PD patients with subthalamic nucleus (STN) DBS and suboptimal responses refractory to clinical programming. Programming settings were adjusted according to the volumetric reconstruction of the stimulation field using commercial postoperative imaging software. Clinical outcomes were assessed at baseline and at 3-month follow-up after IGP, using motor and quality of life (QoL) scales. Additionally, between these two assessment points, follow-up visits for fine-tuning amplitude intensity and medication were conducted at weeks 2, 4, 6, and 9. After IGP, twenty-six patients (83.9%) experienced motor and QoL improvements, with 25.8% feeling much better and 38.7% feeling moderately better according to the patient global impression scale. Five patients (16.1%) had no clinical or QoL changes after IGP. The MDS-UPDRS III motor scale showed a 21.9% improvement and the DBS-IS global score improved by 41.5%. IGP optimizes STN-DBS therapy for PD patients who are experiencing suboptimal clinical outcomes. These findings support using IGP as a standard tool in clinical practice, which could save programming time and improve patients' QoL.
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AIM: The use of deep brain stimulation (DBS) has been recently extended for treating resistant psychiatric disorders, but the experience in patients with schizophrenia-related disorders and bipolar disorder (BD) is scarce. METHOD: We conducted an observational, one-year longitudinal study to evaluate the effects of DBS in four treatment-resistant patients with schizophrenia, schizoaffective, and BD, included in a pilot, last-resource protocol. Patients were digitally monitored for objective assessment of behavioral changes. RESULTS: After one year of its initiation, DBS of the nucleus accumbens (in subjects N2, N3, and N4) and subgenual anterior cingulate cortex (in N1) produced a significant clinical improvement, associated with decreases in the Clinical Global Impression (from 5.25±0.5 to 3.5±1, p=0.035) and in the Hamilton Depression Rating Scale (HADRS scores, from 14.5±6.56 to 1.5±1.29, p=0.020). We observed a notable, durable therapeutic response in two patients from this cohort (N1 and N3), a clinically relevant relief in a third (N2), and a lack of a significant response in the last one (N4). Maintenance electroconvulsive therapy sessions could be discontinued in the three patients that responded to DBS (N1-3). There were no side effects or relevant changes in cognitive functioning. There were relevant differences between physical activity and sleep time among the four participants. CONCLUSIONS: These results suggest initial evidence that DBS may be an effective and safe alternative for treating complex and resistant forms of schizophrenia-related disorders and BD. Digital monitoring may help to capture objective measures of behavioral changes after the intervention.
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Objective: Starting from an anatomic study describing the possibility of reaching the temporal region through an endoscopic transorbital approach, many clinical reports have now demonstrated the applicability of this strategy when dealing with intra-axial lesions. The study aimed to provide both a qualitative anatomic description of the temporal region, as seen through a transorbital perspective, and a quantitative analysis of the amount of temporal lobe resection achievable via this route. Material and methods: A total of four cadaveric heads (eight sides) were dissected at the Laboratory of Surgical Neuroanatomy (LSNA) of the University of Barcelona, Spain. A stepwise description of the resection of the temporal lobe through a transorbital perspective is provided. Qualitative anatomical descriptions and quantitative analysis of the amount of the resection were evaluated by means of pre- and post-dissection CT and MRI scans, and three-dimensional reconstructions were made by means of BrainLab®Software. Results: The transorbital route gives easy access to the temporal region, without the need for extensive bone removal. The resection of the temporal lobe proceeded in a subpial fashion, mimicking what happens in a surgical scenario. According to our quantitative analysis, the mean volume removed was 51.26%, with the most superior and lateral portion of the temporal lobe being the most difficult to reach. Conclusion: This anatomic study provides qualitative and quantitative details about the resection of the temporal lobe via an endoscopic transorbital approach. Our results showed that the resection of more than half of the temporal lobe is possible through this surgical corridor. While the anterior, inferior, and mesial portions of the temporal lobe were easily accessible, the most superior and lateral segment was more difficult to reach and resect. Our study serves as an integration to the current anatomic knowledge and clinical practice knowledge highlighting and also as a starting point for further anatomic studies addressing more selected segments of the temporal lobe, i.e., the mesial temporal region.
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BACKGROUND: Trypanosoma cruzi causes Chagas disease (CD), a potentially fatal disease characterized by cardiac disorders and digestive, neurological or mixed alterations. T. cruzi is transmitted to humans by the bite of triatomine vectors; both the parasite and disease are endemic in Latin America and the United States. In the last decades, population migration has changed the classic epidemiology of T. cruzi, contributing to its global spread to traditionally non-endemic countries. Screening is recommended for Latin American populations residing in non-endemic countries. METHODS: The present study analyzes the epidemiological characteristics of 2,820 Latin American individuals who attended the International Health Service (IHS) of the Hospital Clinic de Barcelona between 2002 and 2019. The initial assessment of organ damage among positive cases of T. cruzi infection was analyzed, including the results of electrocardiogram (ECG), echocardiogram, barium enema and esophagogram. RESULTS: Among all the screened individuals attending the clinic, 2,441 (86.6%) were born in Bolivia and 1,993 (70.7%) were female. Of individuals, 1,517 (81.5%) reported previous exposure to the vector, which is a strong risk factor associated with T. cruzi infection; 1,382 individuals were positive for T. cruzi infection. The first evaluation of individuals with confirmed T. cruzi infection, showed 148 (17.1%) individuals with Chagasic cardiomyopathy, the main diagnostic method being an ECG and the right bundle branch block (RBBB) for the most frequent disorder; 16 (10.8%) individuals had a normal ECG and were diagnosed of Chagasic cardiomyopathy by echocardiogram. CONCLUSIONS: We still observe many Latin American individuals who were at risk of T. cruzi infection in highly endemic areas in their countries of origin, and who have not been previously tested for T. cruzi infection. In fact, even in Spain, a country with one of the highest proportion of diagnosis of Latin American populations, T. cruzi infection remains underdiagnosed. The screening of Latin American populations presenting with a similar profile as reported here should be promoted. ECG is considered necessary to assess Chagasic cardiomyopathy in positive individuals, but echocardiograms should also be considered as a diagnostic approach given that it can detect cardiac abnormalities when the ECG is normal.
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Doença de Chagas , Migrantes , Trypanosoma cruzi , Humanos , Feminino , Masculino , América Latina/epidemiologia , Doença de Chagas/diagnóstico , CoraçãoRESUMO
BACKGROUND: Traditionally, functional neurosurgery relied in stereotactic atlases and intraoperative micro-registration in awake patients for electrode placement in Parkinson's disease. Cumulative experience on target description, refinement of MRI, and advances in intraoperative imaging has enabled accurate preoperative planning and its implementation with the patient under general anaesthesia. METHODS: Stepwise description, emphasising preoperative planning, and intraoperative imaging verification, for transition to asleep-DBS surgery. CONCLUSION: Direct targeting relies on MRI anatomic landmarks and accounts for interpersonal variability. Indeed, the asleep procedure precludes patient distress. A particular complication to avoid is pneumocephalus; it can lead to brain-shift and potential deviation of electrode trajectory.
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Estimulação Encefálica Profunda , Doença de Parkinson , Humanos , Doença de Parkinson/diagnóstico por imagem , Doença de Parkinson/terapia , Estimulação Encefálica Profunda/métodos , Procedimentos Neurocirúrgicos/métodos , Encéfalo , Imageamento por Ressonância Magnética/métodosRESUMO
OBJECTIVE: The endoscopic transorbital approach (ETOA) is a minimally invasive approach that could be particularly appropriate for management of spheno-orbital meningiomas. The aim of this study was to perform a systematic review of the literature on the management of spheno-orbital meningiomas via the minimally invasive ETOA, searching for clinical scenarios in which this approach could be best indicated. A secondary aim was to describe 4 illustrative cases. METHODS: A systematic review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Data including patient demographics, tumor features, and surgical and postoperative outcomes were collected. Cases from our initial experience with ETOA were included in the data. RESULTS: Data of 58 patients from 9 selected records and from our surgical series were collected. Subtotal, near-total, and gross total resection rates were 44.8%, 10.3%, and 32.7%, respectively. Symptom improvement after surgery was 100% for proptosis, 93% for visual impairment, and 87% for ophthalmoplegia. The most common postoperative complications were transient ophthalmoplegia and maxillary nerve hypoesthesia. Cerebrospinal fluid leak was reported in 2 patients. CONCLUSIONS: Our findings support the use of the ETOA for management of spheno-orbital meningiomas, particularly in at least 3 clinical scenarios: 1) when predominant hyperostotic bone is present; 2) when a globular tumor not showing excessive medial or inferior infiltration is being treated; 3) as part of a multistage treatment for diffuse lesions.
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Neoplasias Meníngeas , Meningioma , Humanos , Meningioma/patologia , Osso Esfenoide/cirurgia , Osso Esfenoide/patologia , Endoscopia , Procedimentos Neurocirúrgicos , Neoplasias Meníngeas/patologia , Resultado do TratamentoRESUMO
Computational models and in vivo studies in rodents suggest that the emergence of gamma activity (40-140 Hz) during memory encoding and retrieval is coupled to opposed-phase states of the underlying hippocampal theta rhythm (4-9 Hz).1,2,3,4,5,6,7,8,9,10 However, direct evidence for whether human hippocampal gamma-modulated oscillatory activity in memory processes is coupled to opposed-phase states of the ongoing theta rhythm remains elusive. Here, we recorded local field potentials (LFPs) directly from the hippocampus of 10 patients with epilepsy, using depth electrodes. We used a memory encoding and retrieval task whereby trial unique sequences of pictures depicting real-life episodes were presented, and 24 h later, participants were asked to recall them upon the appearance of the first picture of the encoded episodic sequence. We found theta-to-gamma cross-frequency coupling that was specific to the hippocampus during both the encoding and retrieval of episodic memories. We also revealed that gamma was coupled to opposing theta phases during both encoding and recall processes. Additionally, we observed that the degree of theta-gamma phase opposition between encoding and recall was associated with participants' memory performance, so gamma power was modulated by theta phase for both remembered and forgotten trials, although only for remembered trials the dominant theta phase was different for encoding and recall trials. The current results offer direct empirical evidence in support of hippocampal theta-gamma phase opposition models in human long-term memory and provide fundamental insights into mechanistic predictions derived from computational and animal work, thereby contributing to establishing similarities and differences across species.
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Memória Episódica , Animais , Humanos , Rememoração Mental , Ritmo Teta , Hipocampo , Memória de Longo PrazoRESUMO
BACKGROUND: Combined endonasal and transorbital multiportal surgery has been recently described for selected skull base pathologies. Nevertheless, a detailed anatomic description and a quantitative comprehensive anatomic study of the skull base areas where these 2 endoscopic routes converge, a so-called connection areas, are missing in the scientific literature. OBJECTIVE: To identify all the skull base areas and anatomic structures where endonasal and transorbital endoscopic avenues could be connected and combined. METHODS: Five cadaveric specimens (10 sides) were used for dissection. Qualitative description and quantitative analysis of each connection areas were performed. RESULTS: At the anterior cranial fossa, the connection area was found at the level of the sphenoid planum; in the middle cranial fossa, it was at the Mullan triangle; finally, in the posterior cranial fossa, the connection area was just behind the medial portion of the petrous apex. The average extradural working areas through the transorbital approach were 4.93, 12.93, and 1.93 cm 2 and from the endonasal corridor were 7.75, 10.45, and 7.48 cm 2 at the level of anterior, middle, and posterior cranial fossae, respectively. CONCLUSION: The combined endonasal and transorbital endoscopic approach is an innovative entity of skull base neurosurgery. From the anatomic point of view, our study demonstrated the feasibility of this combined approach to access the entire skull base, by both corridors, identifying a working connection area in each cranial fossa. These data could be extremely useful during the surgical planning to predict which portion of a lesion could be removed through each route and to optimize patients' care.
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Endoscopia , Base do Crânio , Humanos , Base do Crânio/cirurgia , Nariz , Procedimentos Neurocirúrgicos , Fossa Craniana Posterior/cirurgiaRESUMO
Cognitive-relevant information is processed by different brain areas that cooperate to eventually produce a response. The relationship between local activity and global brain states during such processes, however, remains for the most part unexplored. To address this question, we designed a simple face-recognition task performed in patients with drug-resistant epilepsy and monitored with intracranial electroencephalography (EEG). Based on our observations, we developed a novel analytical framework (named "local-global" framework) to statistically correlate the brain activity in every recorded gray-matter region with the widespread connectivity fluctuations as proxy to identify concurrent local activations and global brain phenomena that may plausibly reflect a common functional network during cognition. The application of the local-global framework to the data from three subjects showed that similar connectivity fluctuations found across patients were mainly coupled to the local activity of brain areas involved in face information processing. In particular, our findings provide preliminary evidence that the reported global measures might be a novel signature of functional brain activity reorganization when a stimulus is processed in a task context regardless of the specific recorded areas.
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Eletrocorticografia , Eletroencefalografia , Humanos , Encéfalo/fisiologia , Mapeamento Encefálico , Cognição/fisiologiaRESUMO
The objectives of this study are to determine the influence of personality profile in patients with drug-resistant epilepsy on quality of life (QoL) after surgical treatment and compare the results with a non-surgical control group at the 1-year follow-up. We conducted a prospective, comparative, controlled study, including 70 patients suffering from drug-resistant epilepsy. Demographic, psychiatric, neurological, and psychological data were recorded at the baseline and at the 1-year follow-up. Assessment of personality dimensions was performed using the NEO-FFI-R questionnaire; severity of anxiety and depression were assessed by the Hospital Anxiety and Depression Scale (HADS), and QoL was evaluated using the QOLIE-31. At the 1-year follow-up, comparing the control and the surgical groups, we detected differences in scores of most items of QoL, which were higher in those patients who had undergone surgery. High levels of Conscientiousness and Openness to experience at the baseline in patients who underwent surgery predicted better post-surgical outcomes in the QoL scores, whereas high neurotic patients showed worse QoL results. Postoperative changes in QoL in patients were associated with the personality profile at the baseline. QoL measures significantly improved in the surgical group compared with the non-surgical group but were not associated with baseline or postoperative seizure frequency at 1 year.
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Epilepsia , Qualidade de Vida , Humanos , Seguimentos , Qualidade de Vida/psicologia , Estudos Prospectivos , Depressão/psicologia , Personalidade , Epilepsia/psicologia , Epilepsia/cirurgiaRESUMO
OBJECTIVE: Intraoperative ultrasound (iUS) is a well-established technique whose aim is to provide real-time visualization of deep lesions during brain surgery. The lack of definition of anatomic semeiotics and the unusual direction of the insonation plane make interpretation and orientation challenging for the surgeon who newly approaches to such a tool. We propose a novel protocol to be applied during the surgical planning for intracranial lesions surgery, a so-called ultrasound-oriented surgical planning ("UOSP") protocol, and we provide a retrospective analysis of 21 patients who underwent surgery for an intracranial lesion in which UOSP was applied. To further enlighten different surgical orientation strategies and possible limitations given by the technique, we discuss 3 illustrative cases assigned to 3 categories ("basic," "intermediate," and "challenging" lesions) with progressively growing difficulty in anatomic orientation during a surgical procedure. METHODS: A total of 21 patients operated between March 2021 and July 2021 and where the UOSP protocol was applied during surgical planning were evaluated retrospectively. The UOSP protocol was performed the days before the surgical intervention by the same surgical team. RESULTS: The UOSP protocol was successfully applied in all 21 patients. In all cases, the preoperative imaging obtained during surgical planning corresponded to the images observed during the application of iUS. CONCLUSIONS: The introduction of the UOSP protocol during the planification of the surgical intervention for an intracerebral lesion may serve as a key factor to overcome the actual limitations inherent to the iUS technique. Utilization of this protocol may facilitate wider use of iUS in neurosurgery.
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Neurocirurgia , Procedimentos Neurocirúrgicos , Humanos , Estudos Retrospectivos , Ultrassonografia/métodos , Procedimentos Neurocirúrgicos/métodos , Técnicas EstereotáxicasRESUMO
Introduction: Glioblastoma (GBM) remains the most frequent and lethal primary brain tumor in adults, despite advancements in surgical resection techniques and adjuvant chemo- and radiotherapy. The most frequent recurrence pattern (75-90%) occurs in the form of continuous growth from the border of the surgical cavity, thus emphasizing the need for locoregional tumor control. Fluorescence-guided surgical resection using 5-ALA has been widely implemented in surgical protocols for such tumors. Recent literature also highlights the applicability of 5-ALA-mediated photodynamic therapy to obtain locoregional tumor control further. This study aims to identify if 5-ALA mediated photodynamic therapeutic effect after gross total glioblastoma resection has inadvertently occurred due to the exposition of protoporphyrin IX charged peripheral tumoral cells to operative room light sources. Methods: Of 146 patients who were intervened from glioblastoma between 2015 and 2020, 33 were included in the present study. Strict gross total resection (without supralocal resection) had been accomplished, and adjuvant chemoradiotherapy protocol was administered. Two comparison groups were created regarding the location of the recurrence (group A: up to 1 centimeter from the surgical cavity, and group B: beyond 1 centimeter from the surgical cavity). The cutoff point was determined to be 1 centimeter because of the visible light penetrance to the normal brain tissue. Results: In univariate analysis, both groups only differed regarding 5-ALA administration, which was significantly related to a minor relative risk of presenting the recurrence within the first centimeter from the surgical cavity (Relative Risk = 0,655 (95% CI 0,442-0,970), p-value=0,046). Results obtained in univariate analysis were corroborated posteriorly in multivariate analysis (RR=0,730 (95% CI 0,340-0,980), p=0,017). Discussion: In the present study, a probable inadvertent 5-ALA photodynamic therapeutical effect has been detected in vivo. This finding widely opens the door for further research on this promising theragnostic tool.
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Objective: Superior eyelid endoscopic transorbital approach (SETOA) is nowadays gaining progressive application in neurosurgical scenarios. Both anatomic and clinical reports have demonstrated the possibility of taking advantage of the orbital corridor as a minimally invasive route to reach anterior and middle cranial fossae and manage selected surgical lesions developing in these areas. The aim of this paper is to further shed light on other anatomic regions of the skull base as seen from a transorbital perspective, namely, the posterior cranial fossa and tentorial area, describing technical feasibility and steps in reaching this area through an extradural-transtentorial approach and providing quantitative evaluations of the "working area" obtained through this route. Material and methods: Four cadaveric heads (eight sides) were dissected at the Laboratory of Surgical Neuroanatomy (LSNA) of the University of Barcelona, Spain. A stepwise dissection of the transorbital approach to the tentorial area was described. Qualitative anatomical descriptions and quantitative analyses of working were evaluated by using pre- and postdissections CT and MRI scans, and three-dimensional reconstructions were made using Amira software. Results: With the endoscopic transorbital approach, posterior cranial fossa dura was reached by an extradural middle cranial fossa approach and drilling of the petrous apex. After clipping the superior petrosal sinus, the tentorium was divided and cut. An endoscope was then introduced in the posterior cranial fossa at the level of the tentorial incisura. Qualitative analysis provided a description of the tentorial and petrosal surfaces of the cerebellum, middle tentorial incisura, cerebellopontine fissures, and, after arachnoid dissection, by a 30° endoscopic visualization, the posterior aspect of the cerebellomesencephalic fissure. Quantitative analysis of the "working area" obtained after bone removal was also provided. Conclusions: This anatomic qualitative and quantitative study sheds light on the anatomy of the posterior cranial fossa contents, such as the tentorial area and incisura, as seen through a transorbital perspective. The first aim of the article is to enrich the anatomical knowledge as seen through this relatively new corridor and to provide quantitative details and insights into the technical feasibility of reaching these regions in a surgical scenario.
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Background: In the last decades, skull base surgery had passed through an impressive evolution. The role of neuroanatomic research has been uppermost, and it has played a central role in the development of novel techniques directed to the skull base. Indeed, the deep and comprehensive study of skull base anatomy has been one of the keys of success of the endoscopic endonasal approach to the skull base. In the same way, dedicated efforts expended in the anatomic lab has been a powerful force for the growth of the endoscopic transorbital approach to the lateral skull base.Therefore, in this conceptual paper, the main steps for the anatomic description of the endoscopic transorbital approach to the skull base have been detailed. Methods: The anatomic journey for the development of the endoscopic transorbital approach to the skull base has been analyzed, and four "conceptual" steps have been highlighted. Results: As neurosurgeons, the eyeball has always represented a respectful area: to become familiar with this complex and delicate anatomy, we started by examining the orbital anatomy on a dry skull (step 1). Hence, step 1 is represented by a detailed bone study; step 2 is centered on cadaveric dissection; step 3 consists in 3D quantitative assessment of the novel endoscopic transorbital corridor; and finally, step 4 is the translation of the preclinical data in the real surgical scenario by means of dedicated surgical planning. Conclusions: The conceptual analysis of the anatomic journey for the description of the endoscopic transorbital approach to the skull base resulted in four main methodological steps that should not be thought strictly consequential but rather interconnected. Indeed, such steps should evolve following the drives that can arise in each specific situation. In conclusion, the four-step anatomic rehearsal can be relevant for the description, diffusion, and development of a novel technique in order to facilitate the application of the endoscopic transorbital approach to the skull base in a real surgical scenario.
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Meningioma (MN) is an important cause of disability, and predictive tools for estimating the risk of recurrence are still scarce. The need for objective and cost-effective techniques addressed to this purpose is well known. In this study, we present methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as a friendly method for deepening the understanding of the mechanisms underlying meningioma progression. A large follow-up allowed us to obtain 50 samples, which included the primary tumor of 20 patients in which half of them are suffering one recurrence and the other half are suffering more than one. We histologically characterized the samples and performed MS-MLPA assays validated by FISH to assess their copy number alterations (CNA) and epigenetic status. Interestingly, we determined the increase in tumor instability with higher values of CNA during the progression accompanied by an increase in epigenetic damage. We also found a loss of HIC1 and the hypermethylation of CDKN2B and PTEN as independent prognostic markers. Comparison between grade 1 and higher primary MN's self-evolution pointed to a central role of GSTP1 in the first stages of the disease. Finally, a high rate of alterations in genes that are related to apoptosis and autophagy, such as DAPK1, PARK2, BCL2, FHIT, or VHL, underlines an important influence on cell-death programs through different pathways.
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OBJECTIVE: The objective of this study was to evaluate the accuracy of the SureTune3 postoperative imaging software in determining the location of a deep brain stimulation (DBS) electrode based on clinical outcomes and the adverse effects (AEs) observed. METHODS: Twenty-six consecutive patients with Parkinson disease (n = 17), essential tremor (n = 8), and dystonia (n = 1) who underwent bilateral DBS surgery (52 electrodes) were included in this study. Presurgical assessments were performed in all patients prior to surgery and at 3 and 6 months after surgery, using quality-of-life and clinical scales in each case. The SureTune3 software was used to evaluate the anatomical positioning of the DBS electrodes. RESULTS: Following DBS surgery, motor and quality-of-life improvement was observed in all patients. Different AEs were detected in 12 patients, in 10 of whom (83.3%) SureTune3 related the symptoms to the positioning of an electrode. A clinical association was observed with SureTune3 for 48 of 52 (92.3%) electrodes, whereas no association was found between the AEs or clinical outcomes and the SureTune3 reconstructions for 4 of 52 electrodes (7.7%) from 4 different patients. In 2 patients, the contact chosen was modified based on the SureTune3 data, and in 2 cases, the software helped determine that second electrode replacement surgery was necessary. CONCLUSIONS: The anatomical position of electrodes analyzed with SureTune3 software was strongly correlated with both the AEs and clinical outcomes. Thus, SureTune3 may be useful in clinical practice, and it could help improve stimulation parameters and influence decisions to undertake electrode replacement surgery.
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Estimulação Encefálica Profunda , Distonia , Tremor Essencial , Estimulação Encefálica Profunda/métodos , Distonia/terapia , Eletrodos Implantados/efeitos adversos , Tremor Essencial/cirurgia , Humanos , SoftwareRESUMO
Desmoplastic infantile astrocytoma (DIA) is rare, cystic and solid tumor of infants usually found in superficial cerebral hemispheres. Although DIA is usually benign, uncommon cases bearing malignant histological and aggressive clinical features have been described in the literature. We report a newborn patient who was diagnosed with a DIA and died postresection. Pathologic examination revealed that the main part of the tumor had benign features, but the internal region showed areas with a more aggressive appearance, with higher-proliferative cells, anaplastic GFAP positive cells with cellular polymorphism, necrosis foci, vascular hyperplasia with endothelial proliferation and microtrombosis. Genetic study, performed in both regions of the tumor, showed a BRAF V600E mutation and a homozygous deletion in PTEN, without changes in other relevant genes like EGFR, CDKN2A, TP53, NFKBIA, CDK4, MDM2 and PDGFRA. Although PTEN homozygous deletions are described in gliomas, the present case constitutes the first report of a PTEN mutation in a DIA, and this genetic feature may be related to the malignant behavior of a usually benign tumor. These genetic findings may point at the need of further and deeper genetic characterization of DIAs, in order to better understand the biology of this tumor and to obtain new prognostic approaches, a better clinical management and targeted therapies, especially in malignant cases of DIA.