Publications by authors named "Gustavo da Fontoura Galvao"
Article Synopsis
- WHO Grade 2 meningiomas pose diagnostic and management challenges, with surgery (particularly gross total resection) being essential, often followed by adjuvant radiotherapy, though the effectiveness of this combination is still under investigation.
- A systematic review analyzed data from 23 studies involving 3,822 patients, comparing outcomes of gross total resection alone versus with adjuvant radiotherapy and found that the combination significantly improved progression-free survival, though overall survival needs more research to determine if there's a substantial benefit.
- The study concludes that adjuvant radiotherapy enhances progression-free survival for WHO Grade 2 meningiomas, and future treatments should consider molecular characteristics to improve management strategies.
Introduction: Familial Cerebral Cavernous Malformations (fCCMs) are rare, hereditary conditions characterized by multiple central nervous system lesions. Despite their rarity, CCMs can cause significant clinical challenges when symptomatic, manifesting as seizure and symptomatic hemorrhage (CASH). Guidelines suggest neurosurgical intervention for symptomatic or previously symptomatic lesions, while conservative management is recommended for new-onset epilepsy.
View Article and Find Full Text PDFEarly and long-term outcome of surgical versus conservative management for intracranial cerebral cavernous malformation: Meta-analysis of reconstructed time-to-event data.
Clin Neurol Neurosurg
November 2024
Article Synopsis
- The meta-analysis explores the effectiveness of surgical intervention versus conservative management for symptomatic cerebral cavernous malformations (CCMs), tackling the challenges of uncertain clinical management due to limited trial data.
- Results indicate that while surgical intervention might lead to more events (neurological deficits or bleeding) in the long run, observational management showed a longer mean time before these events occurred.
- The study concludes that observational management could offer better long-term outcomes and emphasizes the necessity for more research, including randomized controlled trials, to improve treatment approaches for CCMs.
Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.
J Stroke Cerebrovasc Dis
November 2024
Article Synopsis
- Cerebral Cavernous Malformations (CCM) is a genetic disorder affecting a small percentage of the population and is characterized by vascular irregularities in the brain and spinal cord; the study discovered two new mutations that disrupt important protein functions.* -
- The research analyzed a group of Brazilian CCM patients to identify genetic variations and their potential effects on disease progression, using a combination of genetic sequencing and structural analysis tools.* -
- The findings revealed multiple mutations, demonstrated significant changes in protein structure potentially linked to pathogenesis, and highlighted a wide range of symptoms among patients, although no significant differences were found in clinical characteristics based on the newly identified mutations.*
Article Synopsis
- Cavernomas are genetic vascular lesions located in the central nervous system that may require alternative treatment options, like Gamma Knife stereotactic radiosurgery (GKSRS), when found in critical areas where surgery is not advisable.
- A systematic review and meta-analysis of seven studies involving 1,071 patients revealed that GKSRS had an 89.8% events-free rate at two years and 71.3% at ten years following treatment.
- The findings suggest that GKSRS is a promising alternative for managing symptomatic cavernomas, but further research is necessary to strengthen these conclusions.
Infratentorial Cerebral Cavernous Malformation May be a Risk Factor for Symptomatic Bleeding and Precocity of Symptoms: A Multicenter, Propensity Score Matched, Case-Control Study.
Curr Neurovasc Res
August 2024
Background: Cerebral Cavernous Malformation (CCM) is one of the most common types of vascular malformation of the central nervous system. Intracerebral hemorrhage, seizures, and lesional growth are the main clinical manifestations. Natural history studies have tried to identify many risk factors; however, the clinical course remains highly unpredictable.
View Article and Find Full Text PDFCerebral cavernous malformation (CCM) is a vascular disease that affects the central nervous system, which familial form is due to autosomal dominant mutations in the genes KRIT1(CCM1), MGC4607(CCM2), and PDCD10(CCM3). Patients affected by the PDCD10 mutations usually have the onset of symptoms at an early age and a more aggressive phenotype. The aim of this study is to investigate the molecular mechanism involved with CCM3 disease pathogenesis.
View Article and Find Full Text PDFBackground: Recent evidences have suggested the involvement of toll-like receptor (TLR)-4 in the pathogenesis of cerebral cavernous malformations (CCM). Elevated frequency of TLRT-cells has been associated with neurological inflammatory disorders. As T-cells and B-cells are found in CCM lesions, the objective of the present study was to evaluate the cytokine profile of T-cells expressing TLR2 and TLR4, as well as B-cell subsets, in asymptomatic (CCM) and symptomatic (CCM) patients.
View Article and Find Full Text PDFAssociation of Variants in FCGR2A, PTPN2, and GM-CSF with Cerebral Cavernous Malformation: Potential Biomarkers for a Symptomatic Disease.
Curr Neurovasc Res
February 2022
Article Synopsis
- Cerebral Cavernous Malformations (CCM) can lead to seizures and hemorrhages, but only a few patients show symptoms; this study examines genetic factors and inflammation markers related to these symptoms.
- The research involved analyzing 23 CCM patients (16 symptomatic and 7 asymptomatic) using a 200-SNP panel and testing 18 plasma molecules.
- Results indicated that specific SNPs (FCGR2A and PTPN2) could differentiate between symptomatic and asymptomatic individuals, and a predictive formula incorporating these SNPs alongside GM-CSF levels shows promise for diagnosing symptomatic patients.*
Article Synopsis
- - The study discusses familial cerebral cavernous malformations (CCM), common vascular issues in the CNS linked to specific gene mutations (CCM1, CCM2, CCM3).
- - A 51-year-old woman with a history of seizures was found to have two significant mutations (one in CCM2 and another in CCM1), indicating a complex genetic condition contributing to her epilepsy.
- - The findings suggest that while the CCM2 mutation primarily causes the patient's symptoms, the CCM1 mutation may enhance the overall severity of her condition.
Novel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness.
World Neurosurg
June 2020
Background: Cerebral cavernous malformations (CCMs) are vascular capillary anomalies with a dysfunctional endothelial adherent junction profile, depicting hemorrhage and epilepsy as the main clinical features. With the advent of an increasingly personalized medicine, better comprehension of genetic mechanisms behind CCM represents an important key in the management of the patients and risk rating in relatives. In this context, genetic factors that might influence clinical expressiveness of CCM need to be identified.
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