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Abstract Objective Describe the epidemiological profile and social-economic burden that hydrocephalus patients represent to the national public health system, using data available at the online database of the Brazilian Health Ministry (DataSUS). Methods This is a populational study based on descriptive statistics of all clinical and surgical appointments included in the DataSUS database. Data included herein were collected between 2015 and 2021 and subdivided into three main groups, related to hydrocephalus incidence and mortality, hospitalizations, and financial costs. Results In the study period, 3993 new cases of congenital hydrocephalus were diagnosed, with 6051 deaths overall. The mortality rate in the country was 1.5/100000 live births and the prevalence was 0.374/100000 inhabitants. The number of hospitalizations resulting from treatment procedures and complications of hydrocephalus was 137,880 and there was a reduction of up to 27.2% during the SARS-CoV-2 pandemics concerning previous years. Total costs for hydrocephalus management in the country amounted to 140,610,585.51 dollars. Conclusions Hydrocephalus has a significant impact on public health budgets and pediatric mortality rates; however, it is probably underestimated, due to the paucity of demographic data and epidemiological studies in Latin America and, specifically, in Brazil. The dataSUS also has several limitations in accessing certain data related to hydrocephalus, making it difficult to have a more assertive understanding of the disease in Brazil. The results of this study provide important guidance for future research projects in clinical and experimental hydrocephalus and also the creation of public policies for better governance and care of hydrocephalus patients.
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OBJECTIVE: Describe the epidemiological profile and social-economic burden that hydrocephalus patients represent to the national public health system, using data available at the online database of the Brazilian Health Ministry (DataSUS). METHODS: This is a populational study based on descriptive statistics of all clinical and surgical appointments included in the DataSUS database. Data included herein were collected between 2015 and 2021 and subdivided into three main groups, related to hydrocephalus incidence and mortality, hospitalizations, and financial costs. RESULTS: In the study period, 3993 new cases of congenital hydrocephalus were diagnosed, with 6051 deaths overall. The mortality rate in the country was 1.5/100000 live births and the prevalence was 0.374/100000 inhabitants. The number of hospitalizations resulting from treatment procedures and complications of hydrocephalus was 137,880 and there was a reduction of up to 27.2% during the SARS-CoV-2 pandemics concerning previous years. Total costs for hydrocephalus management in the country amounted to 140,610,585.51 dollars. CONCLUSIONS: Hydrocephalus has a significant impact on public health budgets and pediatric mortality rates; however, it is probably underestimated, due to the paucity of demographic data and epidemiological studies in Latin America and, specifically, in Brazil. The dataSUS also has several limitations in accessing certain data related to hydrocephalus, making it difficult to have a more assertive understanding of the disease in Brazil. The results of this study provide important guidance for future research projects in clinical and experimental hydrocephalus and also the creation of public policies for better governance and care of hydrocephalus patients.
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COVID-19 , Hidrocefalia , Humanos , Criança , Brasil/epidemiologia , SARS-CoV-2 , Incidência , Hidrocefalia/epidemiologiaRESUMO
BACKGROUND: Pilocytic astrocytoma is the most frequent pediatric glioma. Despite its overall good prognosis, complete surgical resection is sometimes unfeasible, especially for patients with deep-seated tumors. For these patients, the identification of targetable genetic alterations such as NTRK fusions, raised as a new hope for therapy. The presence of gene fusions involving NTRK2 has been rarely reported in pilocytic astrocytoma. The aim of the present study was to investigate the frequency of NTRK2 alterations in a series of Brazilian pilocytic astrocytomas. METHODS: Sixty-nine pilocytic astrocytomas, previously characterized for BRAF and FGFR1 alterations were evaluated. The analysis of NTRK2 alterations was performed using a dual color break apart fluorescence in situ hybridization (FISH) assay. RESULTS: NTRK2 fusions were successfully evaluated by FISH in 62 of the 69 cases. Neither evidence of NTRK2 gene rearrangements nor NTRK2 copy number alterations were found. CONCLUSIONS: NTRK2 alterations are uncommon genetic events in pilocytic astrocytomas, regardless of patients' clinicopathological and molecular features.
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Astrocitoma , Neoplasias Encefálicas , Glioma , Astrocitoma/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Fusão Gênica , Glioma/genética , Humanos , Hibridização in Situ Fluorescente , Proteínas Proto-Oncogênicas B-raf/genéticaRESUMO
BACKGROUND: Selective dorsal rhizotomy (SDR) is one of the surgical alternatives for treating spasticity, especially in children with spastic diplegia secondary to cerebral palsy (CP). It is becoming increasingly used, and the results of this operation need to be further highlighted. AIM: The main objective of this article was to present the results of such surgical procedure in a cohort of a specialized center, with a particular focus on a quantitative analysis (goniometry). MATERIALS AND METHODS: Retrospective review of the medical records and gait analyses of a cohort of 34 patients diagnosed with CP submitted to elective SDR at our institution, in a period of 6 years, was carried out. All patients underwent a thorough clinical and neurological assessment, gait analysis at a dedicated laboratory, and magnetic resonance imaging of whole neuro-axis. STATISTICAL ANALYSIS: For continuous quantitative variables (goniometric angles and muscle tone), a t-student test was used. A scatterplot regression analysis was used for the comparison of modified Ashworth scale (mAS) scores and goniometry measurements. RESULTS AND CONCLUSION: In a mean follow-up of 3.2 years, SDR provides a measurable and consistent improvement in the motor function of spastic patients, as per range of motion and tonus scales, with low complication rates. It also allows for patients to reduce their use of muscle relaxants, even though their global mobility does not change significantly. Therefore, it should be considered for CP patients who suffer with the deleterious effects of spasticity.
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The tuberous sclerosis complex (TSC), focal cortical dysplasia IIB (FCD IIB), and hemimegalencephaly (HME) exhibit similar molecular features that are dependent on the hyperactivation of the mTOR pathway. They are all associated with refractory epilepsy and the need for surgical resection with varying outcomes. The phosphorylated protein S6 (pS6) is a downstream target of mTOR, whose increased expression might indicate mTOR hyperactivation, but which is also present when there is no alteration in the pathway (such as in FCD type I). We have performed immunohistochemical marking and quantification of pS6 in resected brain specimens of 26 patients clinically and histologically diagnosed with TSC, FCD IIB, or HME and compared this data to a control group of 25 patients, to measure the extent of pS6 positivity and its correlation with clinical aspects. Our results suggest that pS6 may serve as a reliable biomarker in epilepsy and that a greater percentage of pS6 marking can relate to more severe forms of mTOR-dependent brain anomalies.
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Biomarcadores/metabolismo , Epilepsia Resistente a Medicamentos/metabolismo , Proteína S6 Ribossômica/metabolismo , Adolescente , Criança , Pré-Escolar , Epilepsia Resistente a Medicamentos/etiologia , Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia/complicações , Epilepsia/metabolismo , Epilepsia/cirurgia , Feminino , Hemimegalencefalia/complicações , Hemimegalencefalia/metabolismo , Hemimegalencefalia/cirurgia , Humanos , Lactente , Masculino , Malformações do Desenvolvimento Cortical do Grupo I/complicações , Malformações do Desenvolvimento Cortical do Grupo I/metabolismo , Malformações do Desenvolvimento Cortical do Grupo I/cirurgia , Fosforilação , Esclerose Tuberosa/complicações , Esclerose Tuberosa/metabolismo , Esclerose Tuberosa/cirurgiaRESUMO
BACKGROUND/OBJECTIVES: Pilocytic astrocytomas (PAs) are the most frequent astrocytomas in children and adolescents. Methilthioadenosine phosphorylase(MTAP) is a tumor-suppressor gene, the loss of expression of which is associated with a poor prognosis and better response to specific chemotherapy in leukemia and non-small-cell lung cancer. The expression of MTAP in brain tumors remains largely unknown and its biological role in PA is still unexplored. Our aims were to describe the immunohistochemical MTAP expression in a series of PAs and relate it to the clinicopathological features of the patients. METHODS: We assessed MTAP expression on immunohistochemistry in 69 pediatric and adult patients with PA in a tissue microarray platform. RESULTS: Retained expression of MTAP was seen in >85% of the tumors compared to in the nonneoplastic adjacent tissue. Only 3 supratentorial tumors showed a complete loss of MTAP expression. No significant association with clinicopathological features or overall survival of the patients was found. CONCLUSIONS: MTAP expression is retained in PAs and is not an outcome predictor for these tumors. Nevertheless, a subset of patients with PAs exhibiting a loss of MTAP could potentially benefit from treatment with specific chemotherapy, especially when lesions are recurrent or surgical resection is not recommended.
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Astrocitoma/enzimologia , Purina-Núcleosídeo Fosforilase/metabolismo , Adolescente , Adulto , Astrocitoma/patologia , Criança , Pré-Escolar , Feminino , Humanos , Imuno-Histoquímica , Lactente , Masculino , Pessoa de Meia-Idade , Prognóstico , Análise Serial de Tecidos , Adulto JovemRESUMO
It is clear that sudden unexpected death in epilepsy (SUDEP) is mainly a problem for people with refractory epilepsy, but our understanding of the best way to its prevention is still incomplete. Although the pharmacological treatments available for epilepsies have expanded, some antiepileptic drugs are still limited in clinical efficacy. In the present paper, we described an experience with vagus nerve stimulation (VNS) treatment by opening space and providing the opportunity to implement effective preventative maps to reduce the incidence of SUDEP in children and adolescents with refractory epilepsy.
Está claro que a morte súbita e inesperada em epilepsias (SUDEP) é principalmente um problema para as pessoas com epilepsia refratária, mas o entendimento para estabelecer medidas preventivas ainda está incompleto. Embora os tratamentos farmacológicos disponíveis para epilepsias tenham sido expandidos, algumas drogas antiepilépticas ainda são limitadas em termos de eficácia clínica. No presente trabalho, foi descrita uma experiência com a estimulação do nervo vago (VNS), abrindo espaço e fornecendo a oportunidade de implementar eficazes mapas preventivoss para reduzir a incidência da SUDEP em crianças e adolescentes com epilepsia refratária.
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Adolescente , Criança , Humanos , Morte Súbita/prevenção & controle , Epilepsia/terapia , Estimulação do Nervo Vago , Morte Súbita/etiologia , Epilepsia/complicaçõesRESUMO
PURPOSE: To assess the relationship between the presence of pets in homes of epilepsy patients and the occurrence of sudden unexpected death in epilepsy (SUDEP). METHODS: Parents or relatives of SUDEP patients collected over a ten-year period (2000-2009) in a large epilepsy unit were asked if the patient lived together with any domestic pet at the time of death or not. Patients who did not experience SUDEP served as controls. RESULTS AND CONCLUSIONS: Eleven out of the 1092 included patients (1%) experienced SUDEP, all with refractory symptomatic epilepsy, but none of them had pets in their homes at the time of death. In contrast, the frequency of pet-ownership in the control group (n=1081) was 61%. According to previous studies there are some indications that human health is directly related to companionship with animals in a way that domestic animals prevent illness and facilitate recovery of patients. Companion animals can buffer reactivity against acute stress, diminish stress perception and improve physical health. These factors may reduce cardiac arrhythmias and seizure frequency, factors related to SUDEP. Companion animals may have a positive effect on well-being, thus improving epilepsy outcome.