RESUMO
Middle meningeal artery embolization (MMAE) has emerged as a safe and efficacious alternative to surgery for the treatment of new or recurrent chronic subdural hematoma (CSDH). Several complications such as facial palsy may suddenly occur even in the absence of evident dangerous anastomoses in the angiogram. We herein present a case-report of left facial nerve palsy after MMAE.
Assuntos
Embolização Terapêutica , Paralisia Facial , Hematoma Subdural Crônico , Artérias Meníngeas , Humanos , Hematoma Subdural Crônico/diagnóstico por imagem , Hematoma Subdural Crônico/terapia , Hematoma Subdural Crônico/cirurgia , Embolização Terapêutica/métodos , Embolização Terapêutica/efeitos adversos , Artérias Meníngeas/diagnóstico por imagem , Paralisia Facial/etiologia , Masculino , Idoso , Resultado do TratamentoRESUMO
The vacuolar proton-translocating ATPase (V-ATPase) is a transmembrane multi-protein complex fundamental in maintaining a normal intracellular pH. In the tumoral contest, its role is crucial since the metabolism underlying carcinogenesis is mainly based on anaerobic glycolytic reactions. Moreover, neoplastic cells use the V-ATPase to extrude chemotherapy drugs into the extra-cellular compartment as a drug resistance mechanism. In glioblastoma (GBM), the most malignant and incurable primary brain tumor, the expression of this pump is upregulated, making it a new possible therapeutic target. In this work, the bafilomycin A1-induced inhibition of V-ATPase in patient-derived glioma stem cell (GSC) lines was evaluated together with temozolomide, the first-line therapy against GBM. In contrast with previous published data, the proposed treatment did not overcome resistance to the standard therapy. In addition, our data showed that nanomolar dosages of bafilomycin A1 led to the blockage of the autophagy process and cellular necrosis, making the drug unusable in models which are more complex. Nevertheless, the increased expression of V-ATPase following bafilomycin A1 suggests a critical role of the proton pump in GBM stem components, encouraging the search for novel strategies to limit its activity in order to circumvent resistance to conventional therapy.
Assuntos
Glioblastoma , Glioma , Macrolídeos , ATPases Vacuolares Próton-Translocadoras , Humanos , ATPases Vacuolares Próton-Translocadoras/metabolismo , Glioma/patologia , Glioblastoma/patologia , Resistência a Medicamentos , Fenótipo , Células-Tronco Neoplásicas/metabolismoRESUMO
Glioblastoma (GBM) is the most aggressive and invasive primary brain tumor. Current therapies are not curative, and patients' outcomes remain poor with an overall survival of 20.9 months after surgery. The typical growing pattern of GBM develops by infiltrating the surrounding apparent normal brain tissue within which the recurrence is expected to appear in the majority of cases. Thus, in the last decades, an increased interest has developed to investigate the cellular and molecular interactions between GBM and the peritumoral brain zone (PBZ) bordering the tumor tissue. The aim of this review is to provide up-to-date knowledge about the oncogenic properties of the PBZ to highlight possible druggable targets for more effective treatment of GBM by limiting the formation of recurrence, which is almost inevitable in the majority of patients. Starting from the description of the cellular components, passing through the illustration of the molecular profiles, we finally focused on more clinical aspects, represented by imaging and radiological details. The complete picture that emerges from this review could provide new input for future investigations aimed at identifying new effective strategies to eradicate this still incurable tumor.
Assuntos
Encéfalo , Neoplasias , HumanosRESUMO
INTRODUCTION: The surgical goal in glioblastoma treatment is the maximal safe resection of the tumor. Currently the lack of consensus on surgical technique opens different approaches. This study describes the "perilesional technique" and its outcomes in terms of the extent of resection, progression free survival and overall survival. METHODS: Patients included (n = 40) received a diagnosis of glioblastoma and underwent surgery using the perilesional dissection technique at "San Gerardo Hospital"between 2018 and 2021. The tumor core was progressively isolated using a circumferential movement, healthy brain margins were protected with Cottonoid patties in a "shingles on the roof" fashion, then the tumorwas removed en bloc. Intraoperative ultrasound (iOUS) was used and at least 1 bioptic sample of "healthy" margin of the resection was collected and analyzed. The extent of resection was quantified. Extent of surgical resection (EOR) and progression free survival (PFS)were safety endpoints of the procedure. RESULTS: Thirty-four patients (85%) received a gross total resection(GTR) while 3 (7.5%) patients received a sub-total resection (STR), and 3 (7.5%) a partial resection (PR). The mean post-operative residual volume was 1.44 cm3 (range 0-15.9 cm3).During surgery, a total of 76 margins were collected: 51 (67.1%) were tumor free, 25 (32.9%) were infiltrated. The median PFS was 13.4 months, 15.3 in the GTR group and 9.6 months in the STR-PR group. CONCLUSIONS: Perilesional resection is an efficient technique which aims to bring the surgeon to a safe environment, carefully reaching the "healthy" brain before removing the tumoren bloc. This technique can achieve excellent tumor margins, extent of resection, and preservation of apatient's functions.
Assuntos
Neoplasias Encefálicas , Glioblastoma , Cirurgiões , Humanos , Glioblastoma/diagnóstico por imagem , Glioblastoma/cirurgia , Encéfalo , Ultrassonografia , Consenso , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Estudos Retrospectivos , Procedimentos Neurocirúrgicos , Imageamento por Ressonância MagnéticaRESUMO
Despite the efforts made in recent decades, glioblastoma is still the deadliest primary brain cancer without cure. The potential role in tumour maintenance and progression of the peritumoural brain zone (PBZ), the apparently normal area surrounding the tumour, has emerged. Little is known about this area due to a lack of common definition and due to difficult sampling related to the functional role of peritumoural healthy brain. The aim of this work was to better characterize the PBZ and to identify genes that may have role in its malignant transformation. Starting from our previous study on the comparison of the genomic profiles of matched tumour core and PBZ biopsies, we selected CDK4 and EXT2 as putative malignant drivers of PBZ. The gene expression analysis confirmed their over-expression in PBZ, similarly to what happens in low-grade glioma and glioblastoma, and CDK4 high levels seem to negatively influence patient overall survival. The prognostic role of CDK4 and EXT2 was further confirmed by analysing the TCGA cohort and bioinformatics prediction on their gene networks and protein-protein interactions. These preliminary data constitute a good premise for future investigations on the possible role of CDK4 and EXT2 in the malignant transformation of PBZ.
Assuntos
Neoplasias Encefálicas , Glioblastoma , Glioma , Humanos , Glioblastoma/metabolismo , Neoplasias Encefálicas/metabolismo , Encéfalo/metabolismo , Glioma/metabolismo , Perfilação da Expressão Gênica , Quinase 4 Dependente de Ciclina/genética , Quinase 4 Dependente de Ciclina/metabolismoRESUMO
PURPOSE: The extent of brain tumor resection (EOR) is a fundamental prognostic factor in pediatric neuro-oncology in association with the histology. In general, resection aims at gross total resection (GTR). Intraoperative imaging like intraoperative US (iOUS) and MRI have been developed in order to find any tumoral remnant but with different costs. Aim of our work is to review the current literature in order to better understand the differences between costs and efficacy of MRI and iOUS to evaluate tumor remnants intraoperatively. METHODS: We reviewed the existing literature on PubMed until 31st December 2021 including the sequential keywords "intraoperative ultrasound and pediatric brain tumors", "iUS and pediatric brain tumors", "intraoperative magnetic resonance AND pediatric brain tumors", and "intraoperative MRI AND pediatric brain tumors. RESULTS: A total of 300 papers were screened through analysis of title and abstract; 254 were excluded. After selection, a total of 23 articles were used for this systematic review. Among the 929 patients described, a total of 349(38%) of the cases required an additional resection after an iMRI scan. GTR was measured on 794 patients (data of 69 patients lost), and it was achieved in 552(70%) patients. In case of iOUS, GTR was estimated in 291 out of 379 (77%) cases. This finding was confirmed at the post-operative MRI in 256(68%) cases. CONCLUSIONS: The analysis of the available literature demonstrates that expensive equipment does not always mean better. In fact, for the majority of pediatric brain tumors, iOUS is comparable to iMRI in estimating the EOR.
Assuntos
Neoplasias Encefálicas , Procedimentos Neurocirúrgicos , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Criança , Humanos , Imageamento por Ressonância Magnética/métodos , Procedimentos Neurocirúrgicos/métodos , Estudos Retrospectivos , UltrassonografiaRESUMO
BACKGROUND: Patients affected by a high-grade glioma (HGG) have a poor prognosis with a median survival of 12-16 months. Such poor prognosis affects the perception of the remaining life by patients and the neuropsychological status can strongly affect every-day functioning of these patients. Monitoring changes of neuropsychological functioning (NPF) overtime may provide better clinical information and optimize the neuro-oncological management. The aims of our work were (1) to investigate the feasibility of a complex neuropsychological battery in HGG patients before and during follow-up after surgery; (2) to study the neuropsychological profile of patients affected by HGGs and their relation with the disease status (relapse/death) across time after surgery. METHODS: One hundred two patients who received surgery for HGG between 2011 and 2017 were studied. All clinical data were prospectively recorded. NPF was assessed during the neuro-oncological follow-up through the Milano-Bicocca Battery (MIBIB). Statistical analysis was performed on the neuropsychological results of the tests administered. RESULTS: First, MIBIB proved to be suitable for patients with HGG tumors before and after surgery, and during long-term follow-up; it also showed a cluster structure representative of the principal cognitive domains. Second, we found a steep decline in the neuropsychological profile before death and/or tumor relapse for the 52% of the neuropsychological tests administered. CONCLUSION: Complex neuropsychological batteries can be administered to HGG patients before and during follow-up after surgery. There is a correlation between neuropsychological deterioration and tumor relapse and/or death, which may reflect a progressive damage to cognitive functions due to tumor infiltration and progression.
Assuntos
Neoplasias Encefálicas/psicologia , Neoplasias Encefálicas/cirurgia , Cognição , Glioma/psicologia , Glioma/cirurgia , Testes Neuropsicológicos , Complicações Pós-Operatórias/psicologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/mortalidade , Disfunção Cognitiva , Estudos de Viabilidade , Feminino , Seguimentos , Glioma/mortalidade , Humanos , Masculino , Pessoa de Meia-Idade , Resultados Negativos , Recidiva Local de Neoplasia , Valor Preditivo dos Testes , Resultado do Tratamento , Adulto JovemAssuntos
Neoplasias Encefálicas , Hidrocefalia , Neoplasias Infratentoriais , Neuroendoscopia , Terceiro Ventrículo , Criança , Humanos , Ventriculostomia , Neoplasias Encefálicas/cirurgia , Neoplasias Infratentoriais/cirurgia , Hidrocefalia/cirurgia , Hidrocefalia/patologia , Terceiro Ventrículo/cirurgia , Terceiro Ventrículo/patologia , Resultado do TratamentoRESUMO
Surgical treatment of elderly patients with meningioma is has proved to be safe, especially when patients are selected using dedicated surgical scores. These scores take into account tumor size, edema, location and patient's co-morbidities. Neuropsychological functioning (NPF) of this kind of patients has been poorly studied in literature and it is not taken into account by these scores. Aim of our study was to describe the long-term outcome in terms of NPF of elderly patients undergoing surgery. Patients older than 70 years of age affected by intracranial meningioma and selected with the Clinical-Radiological Grading Score were included in our study. Neuropsychological testing was performed using a dedicated battery of tests before surgery, 3 and 12 months after surgery. Clinical, neurological and radiological outcomes were studied as well. Forty-one patients with a median age of 74 years were included in this study. Preoperatively only 1/41 patients showed a normal NPF with all tests scoring normally. Four out of 39 patients showed a complete neuropsychological recovery after 3 months; while 10/37 patients had a complete recovery after 12 months. NPF showed a trend of progressive improvement after surgery. Our study is the first experience reported in literature describing a long term follow-up in elderly patients after surgery for intracranial meningioma. In our series, surgery determined an improvement of NPF over time; especially with a low complication rate related to the selection of patients obtained through the CRGS. Further studies need to be performed in order to understand how brain edema, tumor size, volume and tumor location affect NPF in both short and long term.
Assuntos
Neoplasias Meníngeas/psicologia , Neoplasias Meníngeas/cirurgia , Meningioma/psicologia , Meningioma/cirurgia , Idoso , Feminino , Seguimentos , Humanos , Masculino , Neoplasias Meníngeas/patologia , Meningioma/patologia , Processos Mentais , Gradação de Tumores , Testes Neuropsicológicos , Complicações Pós-Operatórias , Estudos Prospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
The surgical resection of meningiomas can be complicated by venous thromboembolism (VTE) in the post-operative period, but the exact incidence of this event is not known. Aim of this study was to assess the occurrence of VTE in patients operated for meningioma who underwent a post-operative clinical and objective screening for VTE. Patients undergoing meningioma resection between 2000 and 2010 who accepted to be investigated for VTE in the post-operative period were included in the study. The screening included daily clinical assessment, pulmonary perfusion scintigraphy (Q-SCAN) on day 2 and venous compression ultrasonography (CUS) of the lower limbs within day 7. The univariate and multivariate statistical analysis of risk factors for VTE included sex, age, presence of comorbidities, pre- and post-operative Karnofsky Performance scale (KPS), post-operative neurological worsening and post-operative walking ability. Two-hundred and seventy-five patients were included in the study. VTE was diagnosed in 82 patients (29.8%). Univariate analysis revealed that age ≥ 65 years, cardiovascular comorbidities, pre- and post-operative KPS < 80/100, post-operative neurological worsening and impaired post-operative walking ability were significantly associated with VTE. Multivariate analysis confirmed only age ≥ 65 years (p = 0.011) and post-operative KPS < 80/100 (p = 0.002) as independent risk factors for VTE. Patients operated for meningioma have a 30% risk of VTE. Age ≥ 65 years and post-operative KPS < 80 were independent risk factors for VTE.
Assuntos
Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Complicações Pós-Operatórias/epidemiologia , Tromboembolia Venosa/epidemiologia , Tromboembolia Venosa/etiologia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Avaliação de Estado de Karnofsky , Extremidade Inferior/diagnóstico por imagem , Pulmão/diagnóstico por imagem , Masculino , Neoplasias Meníngeas/epidemiologia , Meningioma/epidemiologia , Pessoa de Meia-Idade , Imagem de Perfusão , Complicações Pós-Operatórias/diagnóstico por imagem , Fatores de Risco , Ultrassonografia , Tromboembolia Venosa/diagnóstico por imagemRESUMO
High grade gliomas (HGG) are tumors with a rapidly progressive course and the standard of care consists of surgery and chemo-radiotherapy. Elderly patients with HGG usually have a worse prognosis due to their comorbidities and difficulties in accessing or completing adjuvant treatments. The purpose of our study was to assess the influence of pre-operative factors (MMSE, age, sex, KPS, tumor volume) on the post-operative access to chemo-radiotherapy in the elderly population. In addition, the influence of the access to adjuvant therapies on overall survival (OS) was assessed. We retrospectively reviewed our consecutive case series of 117 elderly patients (≥65 years) with HGG treated in our Institution. All the clinical records regarding age, sex, tumor location, MMSE, KPS, access to adjuvant treatments and OS were analyzed. 72 males and 45 females with a median age of 71 years were analyzed. Adjuvant therapies were considered; concomitant chemo-radiotherapy with standard radiotherapy or hypofractionated radiation regimen. 84 patients had access to adjuvant therapies. Access to therapies was associated with a median age of 71(range 66-80) years, a median MMSE of 26(range 5-30), and a median tumor volume of 24 cm3(range 1-140). The median OS was 13 months for patients who had access to adjuvant therapies and 5 months for patients who did not. In the elderly patients with HGG, the MMSE, age and tumor volume were predictive of post-surgery access to adjuvant treatments. OS was significantly longer in elderly patients with HGG who had access to post-surgery chemo-radiotherapy.
Assuntos
Neoplasias Encefálicas/terapia , Quimiorradioterapia , Glioma/terapia , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/psicologia , Feminino , Glioma/mortalidade , Glioma/patologia , Glioma/psicologia , Humanos , Estimativa de Kaplan-Meier , Masculino , Testes de Estado Mental e Demência , Gradação de Tumores , Procedimentos Neurocirúrgicos , Prognóstico , Estudos Retrospectivos , Carga TumoralRESUMO
Background: Recently, non-technical skills (NTS) and teamwork in particular have been demonstrated to be essential in many jobs, in business as well as in medical specialties, including plastic, orthopedic, and general surgery. However, NTS and teamwork in neurosurgery have not yet been fully studied. We reviewed the relevant literature and designed a mock surgery to be used as a team-building activity specifically designed for scrub nurses and neurosurgeons. Methods: We conducted a systematic review by searching PubMed (Medline) and CINAHL, including relevant articles in English published until 15 July 2023. Then, we proposed a pilot study consisting of a single-session, hands-on, and cadaver-free activity, based on role play. Scrub nurses were administered the SPLINTS (Scrub Practitioners' List of Intraoperative Non-Technical Skills) rating form as a self-evaluation at baseline and 20-30 days after the simulation. During the experiment, surgeons and scrub nurses role-played as each other, doing exercises including a simulated glioma resection surgery performed on an advanced model of a cerebral tumor (Tumor Box, UpSurgeOn®) under an exoscope. At the end, every participant completed an evaluation questionnaire. Results: A limited number of articles are available on the topic. This study reports one of the first neurosurgical team-building activities in the literature. All the participating scrub nurses and neurosurgeons positively evaluated the simulation developed on a roleplay. The use of a physical simulator seems an added value, as the tactile feedback given by the model further helps to understand the actual surgical job, more than only observing and assisting. The SPLINTS showed a statistically significant improvement not only in "Communication and Teamwork" (p = 0.048) but also in "Situation Awareness" (p = 0.031). Conclusion: Our study suggests that team-building activities may play a role in improving interprofessional teamwork and other NTS in neurosurgery.
RESUMO
(1) Background: brain metastases (BMs) are the most common neoplasm of the central nervous system; despite the high incidence of this type of tumour, to date there is no universal consensus on the most effective treatment in patients with BMs, even if surgery still plays a primary role. Despite this, the adjunct systems that help to reach the GTR, which are well structured for other tumour forms such as ultrasound and fluorescence systems, are not yet well employed and standardised in surgical practice. The aim of this review is to provide a picture of the current state-of-art of the roles of iOUS and intraoperative fluorescence to better understand their potential roles as surgical tools. (2) Methods: to reach this goal, the PubMed database was searched using the following string as the keyword: (((Brain cerebral metastasis [MeSH Major Topic])OR (brain metastasis, [MeSH Major Topic])) AND ((5-ala, [MeSH Terms]) OR (Aminolevulinicacid [All fields]) OR (fluorescein, [MeSH Terms]) OR (contrast enhanced ultrasound [MeSH Terms])OR ((intraoperative ultrasound. [MeSH Terms]))) AND (english [Filter]) AND ((english [Filter]) AND (2010:2022 [pdat])) AND (english [Filter]). (3) Results: from our research, a total of 661 articles emerged; of these, 57 were selected. 21 of these included BMs generically as a secondary class for comparisons with gliomas, without going deeply into specific details. Therefore, for our purposes, 36 articles were considered. (4) Conclusions: with regard to BMs treatment and their surgical adjuncts, there is still much to be explored. This is mainly related to the heterogeneity of patients, the primary tumour histology and the extent of systemic disease; regardless, surgery plays a paramount role in obtaining a local disease control, and more standardised surgical protocols need to be made, with the aim of optimizing the use of the available surgical adjuncts and in order to increase the rate of GTR.
RESUMO
Background: Since the outbreak, in 2019, of COVID-19, the world has experienced marked changes in daily habits, partly reflecting the exceptional social restrictions and health measures adopted to contain the disease. All these measures significantly affected not only peoples's daily lives and psychological well-being but also the possibility for the healthcare system to function properly. In this setting, brain tumour patients were at risk due to their higher physical and mental fragility and their need for regular care. The aim of the present study was to assess, using a self-reported online questionnaire, the patients's perceptions regarding their disease experience. Materials and methods: We developed an online anonymous self-report survey to assess patients's disease experience during the pandemic. We investigated the impact of the COVID-19 pandemic on patients's cancer care schedules, their psychological distress and emotions felt during the pandemic, their levels of worry about COVID-19, and their oncological conditions. Results: 107 patients answered our survey, most of them suffering from a glioma. Less than one-third of the sample had their appointments cancelled, delayed or converted into online visits due to the pandemic. Of the patients who answered the survey, 95% declared they were satisfied with their Institute's oncological management. The feelings reported most often were peacefulness or anxiety/worry; the majority of the sample reported high levels of loneliness, which tended to increase with age, whilst the psychological distress was correlated with age and with having a recurrence of the disease. Half of the sample declared severe worry about their oncological condition, in particular subjects with a recurrence or who were receiving adjuvant therapies. Patients with recurrence tended to worry more about the possibility of contracting COVID-19, and its effects. Conclusion: Our findings illustrate how fragile and in need of care patients with a brain tumour may be, especially those with more severe clinical conditions. These data may help boost healthcare professionals's knowledge about brain tumour patients's needs and fears, so as to be able to offer them a better hospital experience and improve their clinical management, while possibly also reducing the psychological burden on patients and their families.
RESUMO
Objective: To evaluate the viability of exoscopes in the context of neurosurgical education and compare the use of a 4k3D exoscope to a traditional operative microscope in the execution of a task of anatomic structure identification on a model of cranial approach. Material and methods: A cohort of volunteer residents performed a task of anatomical structure identification with both devices three times across an experimental period of 2 months. We timed the residents' performances, and the times achieved were analyzed. The volunteers answered two questionnaires concerning their opinions of the two devices. Results: Across tries, execution speed improved for the whole cohort. When using the exoscopes, residents were quicker to identify a single anatomical structure starting from outside the surgical field when deep structures were included in the pool. In all other settings, the two devices did not differ in a statistically significant manner. The volunteers described the exoscope as superior to the microscope in all the aspects the questionnaires inquired about, besides the depth of field perception, which was felt to be better with the microscope. Volunteers furthermore showed overwhelming support for training on different devices and with models of surgical approaches. Conclusion: The exoscope appeared to be non-inferior to the microscope in the execution of a task of timed identification of anatomical structures on a model of cranial approach carried out by our cohort of residents. In the questionnaires, the residents reported the exoscope to be superior to the microscope in eight of nine investigated domains. Further studies are needed to investigate the use of the exoscope in learning of microsurgical skills.
RESUMO
BACKGROUND: The exoscope is a high-definition telescope recently introduced in neurosurgery. In the past few years, several reports have described the advantages and disadvantages of such technology. No studies have compared results of surgery with standard microscope and exoscope in patients with glioblastoma multiforme (GBM). METHODS: Our retrospective study encompassed 177 patients operated on for GBM (WHO 2021) between February 2017 and August 2022. A total of 144 patients were operated on with a microscope only and the others with a 3D4K exoscope only. All clinical and radiological data were collected. Progression-free survival (PFS) and overall survival (OS) have been estimated in the two groups and compared by the Cox model adjusting for potential confounders (e.g., sex, age, Karnofsky performance status, gross total resection, MGMT methylated promoter, and operator's experience). RESULTS: IDH was mutated in 9 (5.2%) patients and MGMT was methylated in 76 (44.4%). Overall, 122 patients received a gross total resection, 14 patients received a subtotal resection, and 41 patients received a partial resection. During follow-up, 139 (73.5%) patients experienced tumor recurrence and 18.7% of them received a second surgery. After truncation to 12 months, the median PFS for patients operated on with the microscope was 8.82 months, while for patients operated on with the exoscope it was >12 months. Instead, the OS was comparable in the two groups. The multivariable Cox model showed that the use of microscope compared to the exoscope was associated with lower progression-free survival (hazard ratio = 3.55, 95%CI = 1.66-7.56, p = 0.001). CONCLUSIONS: The exoscope has proven efficacy in terms of surgical resection, which was not different to that of the microscope. Furthermore, patients operated on with the exoscope had a longer PFS. A comparable OS was observed between microscope and exoscope, but further prospective studies with longer follow-up are needed.
RESUMO
Familial hemiplegic migraine (FHM) type 1 is a rare monogenic dominant autosomal disease due to CACNA1A gene mutations. Besides the classical phenotype, mutations on CACNA1A gene are associated with a broader spectrum of clinical features including cerebellar ataxia, making FHM1 a complex channelopathy. We report the case of a patient carrying the p.Arg583Gln mutation affected by hemiplegic migraine and late onset ataxia and we performed a literature review about the clinical features of p.Arg583Gln. Although p.Arg583Gln mutations are associated with a heterogeneous phenotype, carriers present cerebellar signs which consisted generally in ataxia and dysmetria, with intention tremor appearing mostly in advanced age, often progressive and permanent. The heterogeneous spectrum of CACNA1A gene mutations probably causes sporadic hemiplegic migraine (SHM) to be misdiagnosed. Given the therapeutic opportunities, SHM/FHM1 should be considered in differential diagnosis of patients with cerebellar ataxia and migraine with aura.
Assuntos
Arginina/genética , Ataxia/genética , Canais de Cálcio/genética , Glutamina/genética , Enxaqueca com Aura/genética , Ataxia/complicações , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Análise Mutacional de DNA , Feminino , Humanos , Pessoa de Meia-Idade , Enxaqueca com Aura/complicações , Radiografia , Tomógrafos ComputadorizadosRESUMO
Background: Chronic subdural hematoma (CSDH) is one of the most common neurosurgical diseases that affect elderly and fragile patients and as a consequence, management can be challenging. Surgery represents the standard treatment; however, alternative options are under investigation. Middle meningeal artery (MMA) embolization is considered a minimally invasive treatment although with poor evidence. In this review, we tried to summarize the findings about MMA embolization as a treatment for a CSDH to provide a useful guidance for clinical practice and for future speculative aspects. Methods: Literature review on PubMed until March 2021 was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Statement. We conducted a research on PubMed with a various combinations of the keywords "CSDH" and "middle meningeal artery" and "embolization," "refractory subdural hematoma," and then we reviewed the references of the relevant studies as additional source of eligible articles. Results: Among the 35 studies eligible for this review, 22 were case series, 11 were case reports, one was a technical note, and 1 was a randomized trial. A total of 746 patients were found in the literature. Failure rate of MMA embolization was between 3.9 and 8.9% of the cases according the indication to treat CSDH (upfront vs. after surgery). Conclusion: The global impression deriving from the data available and the literature is that MMA embolization is a safe procedure with very low complications and with a low failure rate, both when associated with surgery or in case of a standalone treatment.
RESUMO
Diffusion tensor imaging (DTI) allows visualization of the main white matter tracts while intraoperative neurophysiological monitoring (IONM) represents the gold standard for surgical resection of gliomas. In recent years, the use of small craniotomies has gained popularity thanks to neuronavigation and to the low morbidity rates associated with shorter surgical procedures. The aim of this study was to review a series of patients operated for glioma using DTI, IONM, and tumor-targeted craniotomies. The retrospective analysis included patients with supratentorial glioma who met the following inclusion criteria: preoperative DTI, intraoperative IONM, tumor-targeted craniotomy, pre- and postoperative MRI, and complete clinical charts. The DTI was performed on a 3T scanner. The IONM included electroencephalography (EEG), transcranial (TC) and/or cortical motor-evoked potentials (MEP), electrocorticography (ECoG), and direct electrical stimulation (DES). Outcomes included postoperative neurological deficits, volumetric extent of resection (EOR), and overall survival (OS). One hundred and three patients (61 men, 42 women; mean age 54 ± 14 years) were included and presented the following WHO histologies: 65 grade IV, 19 grade III, and 19 grade II gliomas. After 3 months, only three patients had new neurological deficits. The median postoperative volume was 0cc (IQR 3). The median OS for grade IV gliomas was 15 months, while for low-grade gliomas it was not reached. In our experience, a small craniotomy and a tumor resection supported by IONM and DTI permitted to achieve satisfactory results in terms of neurological outcomes, EOR, and OS for glioma patients.