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The drug-resistant temporal lobe epilepsy (TLE) has recently been associated with single nucleotide variants (SNVs) in microRNA(miR)-146a (MIR-146A) (rs2910164) and Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) (rs2298771 and rs3812718) genes. Moreover, no studies have shown an association between these SNVs and susceptibility to drug-resistant and drug-responsive TLE in Brazil. Thus, deoxyribonucleic acid (DNA) samples from 120 patients with TLE (55 drug-responsive and 65 drug-resistant) were evaluated by real-time polymerase chain reaction (RT-PCR). A total of 1171 healthy blood donor individuals from the Online Archive of Brazilian Mutations (ABraOM, from Portuguese Arquivo Brasileiro On-line de Mutações), a repository containing genomic variants of the Brazilian population, were added as a control population for the studied SNVs. MIR-146A and SCN1A relative expression was performed by quantitative RT-PCR (qRT-PCR). The statistical analysis protocol was performed using an alpha error of 0.05. TLE patient samples and ABraOM control samples were in Hardy-Weinberg equilibrium for all studied SNVs. For rs2910164, the frequencies of the homozygous genotype (CC) (15.00% vs. 9.65%) and C allele (37.80% vs. 29.97%) were superior in patients with TLE compared to controls with a higher risk for TLE disease [odds ratio (OR) = 1.89 (95% confidence interval (95%CI) = 1.06-3.37); OR = 1.38 (95%CI = 1.04-1.82), respectively]. Drug-responsive patients also presented higher frequencies of the CC genotype [21.81% vs. 9.65%; OR = 2.58 (95%CI = 1.25-5.30)] and C allele [39.09% vs. 29.97%; OR = 1.50 (95%CI = 1.01-2.22)] compared to controls. For rs2298771, the frequency of the heterozygous genotype (AG) (51.67% vs. 40.40%) was superior in patients with TLE compared to controls with a higher risk for TLE disease [OR = 2.42 (95%CI = 1.08-5.41)]. Drug-resistant patients presented a higher AG frequency [56.92% vs. 40.40%; OR = 3.36 (95%CI = 1.04-17.30)] compared to the control group. For rs3812718, the prevalence of genotypes and alleles were similar in both studied groups. The MIR-146A relative expression level was lower in drug-resistant compared to drug-responsive patients for GC (1.6 vs. 0.1, p-value = 0.049) and CC (1.8 vs. 0.6, p-value = 0.039). Also, the SCN1A relative expression levels in samples from TLE patients were significantly higher in AG [2.09 vs. 1.10, p-value = 0.038] and GG (3.19 vs. 1.10, p-value < 0.001) compared to the AA genotype. In conclusion, the rs2910164-CC and rs2298771-AG genotypes are exerting significant risk influence, respectively, on responsive disease and resistant disease, probably due to an upregulated nuclear factor kappa B (NF-kB) and SCN1A loss of function.
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Epilepsia do Lobo Temporal , MicroRNAs , Canal de Sódio Disparado por Voltagem NAV1.1 , Polimorfismo de Nucleotídeo Único , Humanos , Canal de Sódio Disparado por Voltagem NAV1.1/genética , MicroRNAs/genética , Epilepsia do Lobo Temporal/genética , Epilepsia do Lobo Temporal/tratamento farmacológico , Feminino , Masculino , Brasil , Adulto , Predisposição Genética para Doença , Epilepsia Resistente a Medicamentos/genética , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Pessoa de Meia-Idade , Adulto Jovem , Genótipo , Estudos de Coortes , Alelos , Frequência do Gene , Adolescente , Estudos de Casos e ControlesRESUMO
Intramedullary tumors represent the major cause of spinal cord injuries, and its symptoms include pain and weakness. Progressive weakness may concomitantly occur in the upper and lower limbs, along with lack of balance, spine tenderness, sensory loss, trophic changes of extremity, hyperreflexia, and clonus. The study protocol was in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. A systematic search of the MEDLINE electronic database was performed to identify the studies reporting the clinical features of children and adults who presented with an intramedullary lymphoma. Twenty-one studies were included, reporting 25 cases. Manuscripts were excluded if the full-text article was not available, original data were not reported (e.g., review articles), or if the main disease was not intramedullary lymphoma. A structured data extraction form was employed to standardize the identification and retrieval of data from manuscripts. To enlighten the discussion, a case is also presented. An 82-year-old woman with Fitzpatrick skin type II, diagnosed and treated for non-Hodgkin's lymphoma 7 years ago, was admitted with mental confusion and memory loss for the past 2 months-evolving with recurring falls from her own height. One day before admission, she displayed Brown-Séquard syndrome. An expansive lesion from C2 to C4 in the cervical spinal cord was found and a hypersignal spinal cord adjacent was described at the bulb medullary transition to the C6-C7 level. A primary spinal cord tumor was considered, as well as a melanoma metastasis, due to the lesion's flame pattern. The patient presented a partial recovery of symptoms and a reduction of the spinal cord edema after being empirically treated with corticosteroids, but the lesion maintained its extent. Subsequently, a large diffuse B-cell lymphoma with nongerminal center was found in open body biopsy, infiltrating neural tissue. The main objective of the present study is to report a surgical case treated for a large diffuse B-cell lymphoma, in addition to presenting the results of a systematic review of primary intramedullary spinal cord lymphoma.
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INTRODUCTION: Dyke-Davidoff-Masson syndrome (DDMS), or cerebral hemiatrophy, was first described in 1933. It is characterised by cerebral injury that causes hypoplasia in one of the cerebral hemispheres. The disease has different clinical degrees and two aetiologies: congenital and acquired. Radiological findings depend on the degree of injury and the patient's age at the time. OBJECTIVE: To provide information on the main clinical and radiological characteristics of this disease. METHODS: A systematic review of the PubMed, MEDLINE, and LILACS databases was conducted using only one keyword. Dyke-Davidoff-Masson syndrome. A total of 223 studies were identified, and the results are presented in tables and graphics. RESULTS: The mean age of the patients was 19.44 (0-83 years), and the majority were male (55.32%). The most common types of epileptic seizures were generalised tonic-clonic seizures (31 cases), focal impaired awareness seizures (20 cases), focal motor seizures (13 cases), focal to bilateral tonic-clonic seizures (nine cases), and focal myoclonic seizures (one case). The main features of the disease were rapid deep tendon reflexes and extensor cutaneous-plantar tendon reflexes (30 cases - 16%), contralateral hemiparesis or hemiplegia (132 cases - 70%), gait alterations (16 cases - 9%), facial paralysis (nine cases - 5%), facial asymmetry (58 cases - 31%), limb asymmetry (20 cases - 11%), delayed developmental milestones (39 cases - 21%), intellectual disability (87 cases - 46%), and language/speech disorders (29 cases - 15%). Left hemisphere atrophy was the most prevalent. CONCLUSION: DDMS is a rare syndrome, and several questions regarding this disease remain unanswered. This systematic review aims to elucidate the most common clinical and radiological aspects of the disease and emphasises the need for further investigation.
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Epilepsia , Imageamento por Ressonância Magnética , Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Imageamento por Ressonância Magnética/métodos , Convulsões , Hemiplegia , AtrofiaRESUMO
BACKGROUND: Trigeminal neuralgia (TN) is a neuropathic pain that affects one or more branches of the trigeminal nerve. Surgical options after pharmacological failure are Microvascular Decompression (MVD) or percutaneous procedures, which include Balloon Compression (PBC). This study aims to describe pain outcomes and complications after PBC and MVD procedures for patients with trigeminal neuralgia. METHODS: We performed a systematic review and meta-analysis on PubMed, EMBASE, LILACS, and Web of Science databases up to April 2022, following PRISMA guidelines (Preferred Reporting Items for Systematic Reviews and meta-Analysis). Articles that separately describe pain outcome for MVD and PBC were included. MINORS tool was used for bias assessment. Meta-analysis results are presented in forest plot and funnel plot. RESULTS: 853 studies were assessed for screening, and 11 studies met the inclusion criteria for this review. A total of 1046 patients underwent PBC and 1324 underwent MVD. The subgroup analysis for patients without multiple sclerosis shows that MVD was associated with lower number of patients with pain than PBC, with an OR value of 0.54 (95 % CI 0.34-0.84). All other analyses evidenced a tendency for better outcomes after the MVD procedure, but with no statistically significant difference. CONCLUSION: Considering short and long pain relief, recurrence of pain and total complications for MVD and PBC, our study found that MVD is the best surgical option available for trigeminal neuralgia.
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Oclusão com Balão , Cirurgia de Descompressão Microvascular , Neuralgia do Trigêmeo , Humanos , Neuralgia do Trigêmeo/cirurgia , Cirurgia de Descompressão Microvascular/métodos , Resultado do Tratamento , Dor/cirurgia , Oclusão com Balão/métodos , Estudos RetrospectivosRESUMO
INTRODUCTION: Life expectancy in individuals has increased in recent years. There is no consensus in the literature on the best treatment for a ruptured aneurysm in the elderly (> 60 years), but some places only have microsurgery as a therapeutic strategy. This work aims to develop a prognostic scale for ruptured intracranial aneurysms in the elderly. MATERIAL AND METHODS: Two thousand five hundred thirty patients with subarachnoid hemorrhage were retrospectively evaluated in the last ten years, and 550 of them were elderly. We developed a prognostic scale from the analysis of medical records, clinical and tomographic features that had statistical significance. Glasgow Coma Outcome (GOS) was the outcome of interest and p value < 0,05 was considered statistically significant. RESULTS: Five hundred fifty patients were evaluated, and the comorbidities that were independent variables for poor prognosis were smoking and arterial hypertension; clinical variables were Hunt-Hess, modified Rankin and Glasgow Coma Scale; tomographic was Fisher scale. Poor outcome was defined as GOS ≤ 3. Poor surgical outcomes were more remarkable in the high-risk factor categories, being 6.41 times higher among individuals who had 3 to 4 risk factors and 8.80 times higher among individuals with 5 to 6 risk factors. CONCLUSION: In some vascular neurosurgery services worldwide, microsurgery is the only therapeutic option. This scale aimed at the elderly patient individualizes the treatment and can predict the clinical outcome in ruptured intracranial aneurysms.
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Aneurisma Roto , Aneurisma Intracraniano , Hemorragia Subaracnóidea , Humanos , Idoso , Aneurisma Intracraniano/cirurgia , Aneurisma Intracraniano/complicações , Estudos Retrospectivos , Microcirurgia/efeitos adversos , Microcirurgia/métodos , Resultado do Tratamento , Hemorragia Subaracnóidea/cirurgia , Hemorragia Subaracnóidea/etiologia , Aneurisma Roto/cirurgia , Aneurisma Roto/complicaçõesRESUMO
Primary central nervous system lymphoma (PCNSL) is an uncommon lymphoproliferative disease associated with immunosuppression. Here, we report the case of a patient with multiple sclerosis, under treatment with fingolimod (FTY720, Gilenya) for 4 years, who developed this condition. Although the causal relationship cannot be established, there are cases in the literature that describe the appearance of lymphoma after the use of this medication. Considering the high mortality of PCNSL, epidemiological studies are necessary to establish a relationship between its arising and the use of immunosuppressants.
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Linfoma , Esclerose Múltipla , Humanos , Cloridrato de Fingolimode/efeitos adversos , Esclerose Múltipla/complicações , Esclerose Múltipla/tratamento farmacológico , Esclerose Múltipla/patologia , Imunossupressores/efeitos adversos , Linfoma/induzido quimicamente , Linfoma/complicações , Linfoma/tratamento farmacológico , Sistema Nervoso Central/patologiaRESUMO
Background: The surgical ressection of petroclival meningiomas is challenging due to its deep location and relationship with vital neurovascular structures. Usually they are benign injuries, but they can involve or infiltrate skull base bones, dura mater and brainstem. This makes the total removing very difficult or impossible without causing neurological deficits. The objective of this study is to review the surgical approaches used on the treatment of petroclival meningiomas and the knowledge which we achieved upon the surgical management of 30 cases. Methods: Series of 30 petroclival meningioma-cases. In the beginning of our series we used petrous approach for all the cases, however, with the acquiring of experience, we are indicating the retrosigmoid approach, leaving the petrous and skull-orbito-zigomatics approaches for selected cases. Results: Owing to the difficulty of the access, the petroclival meningiomas usually require different surgical approaches and have distint surgical difficulties. There are three main approaches: fronto-orbito-zigomatics and variants; petrous and variants and retrosigmoid, and they can be combined. The choice for a surgical approach is usually on the location and size of the tumor, on the skull shape, the involvement of venous structures and according to the surgeon´s experience. Conclusion: Petroclival meningiomas are rare and complex on the skull base. The adequate choice is crucial to achieve the good surgical result.
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INTRODUCTION: Miller-Fisher Syndrome (MFS) is a variant of Guillain-Barré syndrome (GBS), an acute immune-mediated neuropathy, which manifests as a rapidly evolving areflex motor paralysis. This syndrome presents as a classic triad: ophthalmoplegia, areflexia, and ataxia. MFS is usually benign and self-limited. CASE REPORT: A Caucasian patient was admitted to our hospital with the flu, loss of bilateral strength in the lower limbs and upper limbs and sudden-onset ataxia 7 days after receiving a first dose of the Oxford/AstraZeneca COVID-19 vaccine. On neurological examination, the patient had Glasgow Coma Scale score of 15, with absence of meningeal signs; negative Babinski sign; grade 2 strength in the lower limbs and grade 4 strength in the upper limbs; axial and appendicular cerebellar ataxia; and peripheral facial diparesis predominantly on the right, without conjugate gaze deviation. Cerebrospinal fluid (CSF) was collected on admission, and analysis revealed albuminocytological dissociation with CSF protein of 148.9 mg/dL; leukocytes, 1; chlorine, 122; glucose, 65 mg/mL; red cells, 2; and non-reactive venereal disease research laboratory test result. The COVID-19 IgG/IgM rapid immunological test was negative. Electroneuromyography revealed a recent moderate-grade and primarily sensory and motor demyelinating polyneuropathy with associated proximal motor block. DISCUSSION AND CONCLUSION: Miller-Fisher Syndrome may be related to events other than infections prior to neuropathy, as in the case reported here. The patient presented strong correlations with findings for MFS reported in the literature, such as the clinical condition, the results of electroneuromyography, and results of the CSF analysis typical for MFS. When treatment was provided as proposed in the literature, the disease evolved with improvement. Ultimately, the diagnosis of incomplete MFS was made, including acute ataxic neuropathy (without ophthalmoplegia).
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COVID-19 , Síndrome de Miller Fisher , Oftalmoplegia , Humanos , Síndrome de Miller Fisher/diagnóstico , Vacinas contra COVID-19 , Oftalmoplegia/etiologia , Ataxia/complicaçõesRESUMO
Background: Most petroclival meningiomas are benign tumors, but their neurosurgical treatment is one of the greatest challenges in this field. Acquiring a deep practical knowledge of brain anatomy is the first step on the path to successfully meeting this challenge. To this end, the present paper is divided into two parts. The first regards the microsurgical anatomy and surgical approaches used in the management of petroclival meningiomas. The second correlates the brain anatomies of the 30 cases of petroclival meningiomas which the senior author (GRI) has operated on. Methods: Eight cadaver heads were dissected using surgical microscopes at the University of Arkansas microsurgery laboratory. The heads were stabilized in a Mayfield device to simulate surgical conditions and colored silicon was injected to highlight the differences between arteries and veins. The approaches performed were: cranio-orbital zygomatic, posterior and anterior petrosectomy, and retrosigmoid. Results: Three main surgical approaches were chosen to treat petroclival meningiomas: the pterional approach and its variants, the petrous approach and its variants, and the retrosigmoid approach. To rationalize the choice of approach, the clivus was separated into superior, middle, and inferior thirds. Conclusion: Several surgical approaches are useful in accessing the petroclival region. Acquiring a practical knowledge of this anatomy in a microsurgical laboratory is fundamental for any surgeon who intends to operate on petroclival meningiomas.
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BACKGROUND: Spinal cord stimulation (SCS) is traditionally performed by implanting surgical leads along the midline of the spinal cord, over the dorsal columns. Here, we present a patient who successfully underwent lateral cervical SCS to treat chronic refractory neuropathic pain. METHODS: A 46-year-old female, with a schwannoma involving the right axillary nerve, presented with a chronic refractory right upper extremity pain syndrome. The tumor was located between the fibers of the teres minor and the posterior deltoid, and measured 2.2 cm in diameter. After 8 months of analgesics, opioids, physiotherapy, and acupuncture, the patient underwent surgery; however, the tumor was unresectable (i.e., due to significant adjacent vascular/neural structures). Three months later, she had a midline C6-C7 laminectomy for placement of a right-sided epidural SCS lead (i.e., containing 16 electrode contacts). RESULTS: Within 4 days following this SCS procedure, the patient's pain completely resolved; at 10 postoperative months, she still remains pain free. CONCLUSION: Lateral SCS at the C6-C7 level provided a safe and effective option for the relief of chronic neuropathic pain attributed to an unresectable schwannoma of the right axillary nerve in a 46-year-old female.
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Single-nucleotide variant (SNV) is a single base mutation at a specific location in the genome and may play an import role in epilepsy pathophysiology. The aim of this study was to review case-control studies that have investigated the relationship between SNVs within microRNAs (miRs) sequences or in their target genes and epilepsy susceptibility from January 1, 2010 to October 31, 2020. Nine case-control studies were included in the present review. The mainly observed SNVs associated with drug-resistant epilepsy (DRE) risk were SNVs n.60G > C (rs2910164) and n.-411A > G (rs57095329), both located at miR-146a mature sequence and promoter region, respectively. In addition, the CC haplotype (rs987195-rs969885) and the AA genotype at rs4817027 in the MIR155HG/miR-155 tagSNV were also genetic susceptibility markers for early-onset epilepsy. MiR-146a has been observed as upregulated in human astrocytes in epileptogenesis and it regulates inflammatory process through NF-κB signaling by targeting tumor necrosis factor-associated factor 6 (TRAF6) gene. The SNVs rs2910164 and rs57095329 may modify the expression level of mature miR-146a and the risk for epilepsy and SNVs located at rs987195-rs969885 haplotype and at rs4817027 in the MIR155HG/miR-155 tagSNV could interfere in the miR-155 expression modulating inflammatory pathway genes involved in the development of early-onset epilepsy. In addition, SNVs rs662702, rs3208684, and rs35163679 at 3'untranslated region impairs the ability of miR-328, let-7b, and miR-200c binding affinity with paired box protein PAX-6 (PAX6), BCL2 like 1 (BCL2L1), and DNA methyltransferase 3 alpha (DNMT3A) target genes. The SNV rs57095329 might be correlated with DRE when a larger number of patients are evaluated. Thus, we concluded that the main drawback of most of studies is the small number of individuals enrolled, which lacks sample power.
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Epilepsia , MicroRNAs , Estudos de Casos e Controles , Epilepsia/genética , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , MicroRNAs/genética , MicroRNAs/metabolismo , Nucleotídeos , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
BACKGROUND: Ventriculoperitoneal shunts (VPSs) insertion is the most common used intervention in cases of hydrocephalus. The main postoperative complications are infections and catheter obstructions. Although the literature has well-documented cases describing migration of the distal catheter, this rare presentation can become more confusing when occurring in conjunction with some unusual preexistent morbidity in the patient, as a Grynfeltt hernia. CASE DESCRIPTION: This study reports a rare case of a VPS postoperative migration, in which the distal catheter exits the abdominal cavity through a Grynfeltt hernia. This condition was not discovered until the catheter fistulated through the overlying skin. The Grynfeltt hernia is the most uncommon among the lumbar ones and it's asymptomatic in the majority of the cases, being hardly diagnosed. CONCLUSION: The unusualness of the reported case deserves furthermore discussion to properly evaluate these underlying mechanisms of catheter migration.
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BACKGROUND: Skin erosion is a common complication after deep brain stimulator procedures. Despite being a relatively common event, there is no standard surgical technique or a widely accepted guideline for managing this kind of complication. METHODS: We describe a case of cutaneous erosion in the connector's site of deep brain stimulation case, surgically managed with anterior displacement of the connectors and overlapping and wrapping the connections within the temporal muscle. RESULTS: Postoperatively, the patient did well and achieved complete resolution of the skin erosion, with no signs of infection or new skin lesions. CONCLUSION: This technique demonstrated to be effective in this case in the long-term follow-up.
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BACKGROUND: Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytic proliferative disorder classically as a massive cervical lymphadenopathy. However, over the years, extranodal locations were confirmed with the central nervous system involvement in less than 5% of cases, which is marked as a significant differential diagnosis of meningiomas, with which they are widely confused due to the similarity of their radiological images. CASE DESCRIPTION: We report a 37-year-old man and 45-year-old man who were diagnosed with intracranial RDD but whose radiological images mimic meningiomas, requiring anatomopathological and tumor's immunohistochemistry for definitive diagnosis. Moreover, a review of 184 publications with 285 cases of intracranial involvement of this disease was also performed, comparing these findings with those brought in the previous studies. CONCLUSION: Intracranial Rosai-Dorfman tumors should always be remembered as differential diagnosis of meningiomas since they are similar radiologically and macroscopically. Once remembered and diagnosed, the lesion must be treated following the same pattern of resection done in meningiomas and, treatment's differences will not occur in the surgical excision technique, but in complementary chemotherapy implementation, radiotherapy, and even with radiosurgery aid, depending on the case. Thus, it is possible to obtain better results than with just the isolated surgical procedure.
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BACKGROUND: Lead migration is a complication associated with occipital nerve stimulation (ONS). We present a rare case in which fibrosis in the stress relief loop caused lead migration in the treatment of occipital neuralgia. CASE DESCRIPTION: A 30-year-old woman with a 5-year history of refractory occipital neuralgia, who had been under ONS therapy for 2 months, presented with a sudden onset of typical occipital neuralgia pain associated with cervical muscles spasms and myoclonus. A skull radiography showed lead migration. The patient underwent surgery for lead repositioning. During surgery, we identified extensive fibrosis throughout the stress relief loop that produced several constriction points. The fibrosis in the stress relief loop increased tension on the lead during head-and-neck movement, causing progressive migration of the lead. CONCLUSION: Although lead migration is a common complication of ONS, its association with fibrosis in the stress relief loop has not, to the best of our knowledge, been reported before. Lead migration can directly affect treatment outcome and it is, therefore, important to fully understand the possible mechanisms that can cause it and how to promptly manage them.
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Dravet syndrome (DS) is a rare and severe epileptic syndrome of childhood with prevalence between 1/22,000 and 1/49,900 of live births. Approximately 80% of patients with this syndrome present SCN1A pathogenic variants, which encodes an alpha subunit of a neural voltage-dependent sodium channel. There is a correlation between PCDH19 pathogenic variants, encodes the protocadherin 19, and a similar disease to DS known as DS-like phenotype. The present review aims to clarify the differences between DS and DS-like phenotype according to the SCN1A and PCDH19 variants. A systematic review was conducted in PubMed and Virtual Health Library (VHL) databases, using "Dravet Syndrome" and "Severe Myoclonic Epilepsy in Infancy (SMEI)" search words, selecting cohort of studies published in journal with impact factor of two or greater. The systematic review was according to the Preferred Reporting Items for Systematic Review and Meta-Analysis recommendations. Nineteen studies were included in the present review, and a significant proportion of patients with DS-carrying SCN1A was greater than patients with DS-like phenotype-harboring PCDH19 variants (76.6% versus 23.4%). When clinical and genetic data were correlated, autism was predominantly observed in patients with DS-like-carrying PCDH19 variants compared to SCN1A variant carriers (62.5% versus 37.5%, respectively, P-value = 0.044, P-value corrected = 0.198). In addition, it was noticed a significant predisposition to hyperthermia during epilepsy crisis in individuals carrying PCDH19 variants (P-value = 0.003; P-value corrected = 0.027). The present review is the first to point out differences between the DS and DS-like phenotype according to the SCN1A and PCDH19 variants.
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Epilepsias Mioclônicas/genética , Heterogeneidade Genética , Mutação , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Protocaderinas/genética , Transtorno Autístico/genética , Humanos , Hipertermia/genética , Canal de Sódio Disparado por Voltagem NAV1.1/deficiência , Estudos Observacionais como Assunto , Fenótipo , Protocaderinas/deficiência , Convulsões Febris/genética , SíndromeRESUMO
INTRODUCTION: Meningiomas account for 2.2% to 2.5% of all cerebral tumors, of which only 2% are located in the foramen magnum. Foramen magnum meningiomas (FMMs) are commonly found in women, with a mean age at onset of 52 years old. They generally behave more aggressively than other meningiomas. MATERIALS AND METHODS: We performed epidemiological, anatomical and surgical analyses of 20 patients diagnosed with FMMs who underwent surgical treatment from 1999 to 2019 at Santa Paula Hospital in Sao Paulo. This case series was compared with previously published ones to better understand this relatively rare disease. RESULTS: Twenty patients were included, with a mean follow-up of 110 months. Their mean age was 37.8 years old. The mean preoperative Karnofsky performance status scale (KPS) was 84%. We found a female (65%) and left hemisphere predominance (50%). Involvement of both hemispheres was found in 25% of patients. FMM locations were anterior, anterolateral, lateral and posterior, in 45%, 35%, 10%, and 10%, respectively. Simpson resection grades I, II, and III were achieved in 25%, 60%, and 15% of cases, respectively. Mean postoperative KPS was 79%. Three patients with anterior and bilateral located meningiomas had a worse postoperative KPS in comparison to the preoperative one. CONCLUSION: Anterior and bilateral FMMs seem to be related to a worse prognosis. A gross total resection can reduce the recurrence rates. The KPS is worse in patients with recurrence.
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OBJECTIVE: To review the data published on the subject to create a more comprehensive natural history of the haemorrhagic onset of meningiomas (IVMs). PATIENTS AND METHODS: A Medline search up to June 2020, using the search term "bleeding meningioma," returned 136 papers. As a first selection step, we adopted the following inclusion criteria: series and case reports about bleeding meningioma. Papers written in other languages but with abstracts written in English were also evaluated. RESULTS: A total of 190 tumours were evaluated, specifically 109 tumours from female patients and 81 tumours from male patients with a ratio of 1.34 female to 1.0 male (mean age of 54.86 ± 16.1years old). The majority were located in the convexity (129-67.9 %). Among the 190 tumours evaluated, 171 patients (90 %) presented with GI tumours, with a predominance of the meningothelial subtype (32.6 %). Nine patients (4.7 %) presented with grade GII tumours, and 10 (5.3 %) presented with GIII tumours. The most prevalent type was intracerebral haemorrhage (ICH) at 50 %, followed by subdural at 27.36 %; the mortality rate was 13.1 % (25 deaths), the distribution of both location (prevalence of convexity: 18-72 %) and histopathology (grade 1: 22-88 %). CONCLUSION: These tumours follow the histopathological distribution of meningiomas, in general. The age distribution shows prevalence among the adult population but with a greater proportion in the elderly. The fact that the overwhelming majority of cases involve meningiomas with a benign histological subtype is noteworthy. Another relevant factor observed is that most reports are from Asian origin.
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Hemorragia Cerebral/diagnóstico , Hemorragia Cerebral/etiologia , Neoplasias Meníngeas/complicações , Neoplasias Meníngeas/diagnóstico , Meningioma/complicações , Meningioma/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
OBJECTIVE: The aim of this study was to evaluate single nucleotide variants (SNVs) n.-411A > G (rs57095329) and n.60 G > C (rs2910164) in microRNA (miR)-146a, related to suppressing of TRAF6 with risk for epilepsy, as well as miR-146a and TRAF6 levels. METHODS: DNAs were extracted from epileptogenic tissues and blood leukocytes from drug-resistant epilepsy patients and healthy-individuals, respectively. Genotypes were identified by real-time PCR. Hardy-Weinberg equilibrium (HWE) and Fisher or X2 tests evaluated the difference between groups. The disease risk was assessed by odds ratio (OR) with 95 % confidence interval (95 %CI). The prognostic impact on probability seizure-free survival (PSF) was evaluated by Kaplan-Meier and log-rank tests. RESULTS: For rs57095329 both control and patient samples were not in HWE (p < 0.05) and the genotypes prevalence was similar in patients and controls (p>0.05). For rs2910164, control samples were in HWE (p = 0.61), contrasting with patients (p = 0.03), and similar frequencies of wild-type homozygous (GG) (43.4 % vs. 34.4 %, p = 0.2) and variant (CC) genotypes (8.0 % vs. 6.6 %, p = 0.6) were observed in patients and controls, respectively. However, increased frequency of heterozygous (GC) was observed in patients compared to controls (59.0 % vs. 42.7 %, p = 0.04) with 1.98 (95 %CI=1.09-3.57) risk for epilepsy. The miR-146a expression level in the epileptogenic tissues was lower in the GC (p = 0.02) and CC (p = 0.09) compared to GG genotype. TRAF6 expression level was higher in CC than in GG genotype (p = 0.09). Interestingly, there was an increased frequency of patients harboring GC genotype and less time until surgery compared to patients harboring GG or CC (36.06 % vs. 11.5 %, p = 0.01), confirmed by PSF (p = 0.04). CONCLUSIONS: The GC genotype for SNV rs2910164 appears associated with susceptibility to drug-resistant epilepsy due to the decreased MIR146a expression, favoring NF-kB pathway through TRAF6.