Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 104
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Neuroradiology ; 62(6): 705-713, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32140783

RESUMO

PURPOSE: Susceptibility-weighted imaging (SWI) is useful for glioma grading and discriminating between brain tumor categories in adults, but its diagnostic value for pediatric brain tumors is unclear. Here we evaluated the usefulness of SWI for pediatric tumor grading and differentiation by assessing intratumoral susceptibility signal intensity (ITSS). METHODS: We retrospectively enrolled 96 children with histopathologically diagnosed brain tumors, who underwent routine brain MRI exam with SWI (1.5 T scanner). Each tumor was assigned an ITSS score by a radiology resident and an experienced neuroradiologist, and subsequently by consensus. Statistical analyses were performed to differentiate between low-grade (LG) and high-grade (HG) tumors, histological categories, and tumor locations. Inter-reader agreement was assessed using Cohen's kappa (κ). RESULTS: The interobserver agreement was 0.844 (0.953 between first reader and consensus, and 0.890 between second reader and consensus). Among all tumors, we found a statistically significant difference between LG and HG for ITSS scores of 0 and 2 (p = 0.002). This correlation was weaker among astrocytomas alone, and became significant when considering only off-midline astrocytomas (p = 0.05). Scores of 0 and 2 were a strong discriminating factor (p = 0.001) for astrocytomas (score 0) and for embryonal, choroid plexus, germ-cell, pineal, and ependymoma tumors (score 2). No medulloblastoma showed a score of 0. CONCLUSIONS: Our preliminary ITTS results in pediatric brain tumors somewhat differed from those obtained in adult populations. These findings highlight the potential valuable role of ITSS for tumor grading and discriminating between some tumor categories in the pediatric population.

2.
BMC Neurol ; 19(1): 189, 2019 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-31395022

RESUMO

BACKGROUND: Lumbosacral lipomas (LLs) may remain asymptomatic or lead to progressive neurological deterioration. However, sudden neurological deterioration is a rare and severe event. Herein, we report rare occurrences of sudden clinical deterioration in two previously asymptomatic children harbouring intradural LLs without dermal sinus tracts or signs of occult dysraphism. A review of the pertinent literature is also included. CASE PRESENTATION: One child exhibited acute deterioration because of an epidural abscess associated with a filar lipoma without a sinus tract (probably caused by haematogenous spreading from a respiratory tract multiple infection), and the other child exhibited acute deterioration because of a very large, holocord syringomyelia-like cyst associated with a small conus lipoma. Both patients were 4 years old. In case #2, a previously undetected, severe tethered cord (conus at the S3-S4 level) was also present. A complete recovery was attained after an urgent surgical operation in both cases (in addition to targeted antibiotic therapy in case #1). All cases of deterioration in the literature were caused by abscess formation in dermal sinus tracts. CONCLUSIONS: Prophylactic surgery may be indicated even in asymptomatic children that have tethered cord and surgically favourable LLs (small dorsal and filar LLs), especially if the conditions are associated with progressive syringomyelia. Similarly, intradural dermal sinus tracts should be regarded as surgery-indicated, even if the conus is in its normal position and the patient is asymptomatic because there is a consistent risk of severe, infection-related complications. Finally, asymptomatic patients with filar LLs and a normally located conus can be candidates for surgery or an accurate clinical and radiological follow-up.


Assuntos
Lipoma/patologia , Neoplasias da Medula Espinal/patologia , Pré-Escolar , Humanos , Lipoma/complicações , Imagem por Ressonância Magnética , Masculino , Espinha Bífida Oculta/complicações , Neoplasias da Medula Espinal/complicações , Siringomielia/complicações
3.
Dis Markers ; 2019: 3609789, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31191748

RESUMO

Although histologically benign, adamantinomatous craniopharyngioma (AC) pediatric brain tumor is a locally aggressive disease that frequently determines symptoms and hormonal dysfunctions related to the mass effect on the surrounding structures. Another typical feature of this benign neoplasm is the presence of voluminous liquid cysts frequently associated with the solid component. Even if studies have been devoted to the proteomic characterization of the tumor intracystic fluid, poor explorations have been performed on its solid part, principally investigated by transcriptomics technologies. In the present study, seven specimens of AC whole tumor tissue have been analyzed by LC-MS for a preliminary assessment of the proteomic profile by a top-down/bottom-up integrated approach. Thymosin beta 4, ubiquitin, calmodulin, S100 proteins, prothymosin α isoform 2, alpha-defensins 1-4, and fragments largely belonging to vimentin, hemoglobin, and glial fibrillary acidic protein characterized the intact proteome. The identification of alpha-defensins, formerly characterized in AC intracystic fluid, reinforces the hypothesis of a role for inflammation in tumor pathogenesis. A total number of 1798 unique elements were identified by a bottom-up approach with a special focus on the 433 proteins commonly characterized in the 85.7% of the samples analyzed. Their gene ontology classification evidenced the involvement of the adherence system, intermediate filaments, and actin cytoskeleton in tumor pathogenesis and of elements part of the Wnt, FGF, and EGFR signaling pathways. In addition, proteins involved in calcium modulation, innate immunity, inflammation, CCKR and integrin signaling, and gonadotropin-releasing hormone receptor pathways were also outlined. Further than confirming proteomic data previously obtained on AC intracystic fluid, these results offer a preliminary overview of the AC whole tissue protein phenotype, adding new hints towards the comprehension of this still obscure pediatric brain tumor.


Assuntos
Neoplasias Encefálicas/metabolismo , Craniofaringioma/metabolismo , Proteoma/metabolismo , Adolescente , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Encéfalo/metabolismo , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Criança , Craniofaringioma/genética , Craniofaringioma/patologia , Feminino , Humanos , Masculino , Proteoma/genética
4.
Childs Nerv Syst ; 35(10): 1701-1709, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31227858

RESUMO

PURPOSE: The association between Chiari type I malformation (CIM) and hydrocephalus raises a great interest because of the still unclear pathogenesis and the management implications. The goal of this paper is to review the theories on the cause-effect mechanisms of such a relationship and to analyze the results of the management of this condition. METHODS: A review of the literature has been performed, focusing on the articles specifically addressing the problem of CIM and hydrocephalus and on the series reporting about its treatment. Also, the personal authors' experience is briefly discussed. RESULTS: As far as the pathogenesis is concerned, it seems clear that raised intracranial pressure due to hydrocephalus can cause a transient and reversible tonsillar caudal ectopia ("pressure from above" hypothesis), which is something different from CIM. A "complex" hypothesis, on the other hand, can explain the occurrence of hydrocephalus and CIM because of the venous engorgement resulting from the hypoplasia of the posterior cranial fossa (PCF) and the occlusion of the jugular foramina, leading to cerebellar edema (CIM) and CSF hypo-resorption (hydrocephalus). Nevertheless, such a mechanism can be advocated only in a minority of cases (syndromic craniosynostosis). In non-syndromic CIM subjects, the presence of hydrocephalus could be explained by an occlusion of the basal CSF pathways, which would occur completely in a minority of cases (only 7-10% of CIM patients show hydrocephalus) while it would be partial in the remaining cases (no hydrocephalus). This hypothesis still needs to be demonstrated. As far as the management is concerned, the strategy to treat the hydrocephalus first is commonly accepted. Because of the "obstructive" origin of CIM-related hydrocephalus, the use of endoscopic third ventriculostomy (ETV) is straightforward. Actually, the analysis of the literature, concerning 63 cases reported so far, reveals very high success rates of ETV in treating hydrocephalus (90.5%), CIM (78.5%), and syringomyelia symptoms (76%) as well as in giving a radiological improvement of both CIM (74%) and syringomyelia (89%). The failures of ETV were not attributable to CIM or syringomyelia. Only 11% of cases required PCF decompression after ETV. CONCLUSIONS: The association between CIM and hydrocephalus probably results from different, multifactorial, and not yet completely understood mechanisms, which place the affected patients in a peculiar subgroup among those constituting the heterogeneous CIM population. ETV is confirmed as the best first approach for this subset of patients.

5.
Childs Nerv Syst ; 35(9): 1499-1506, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31222447

RESUMO

BACKGROUND: Infection may complicate the outcome of cranial repair with significant additional morbidity, related to hospitalization, surgery and long antibiotic therapy, that may become even dramatic in case of multi-resistant germs and in particular in the paediatric population. Additionally, the economic costs for the health system are obvious. Moreover, surgical decisions concerning the timing of cranioplasty and choice of the material may be strongly affected by the risk of infection. Despite, management and prevention of cranioplasty infections are not systematically treated through the literature so far. METHODS: We reviewed pertinent literature dealing with cranioplasty infection starting from the diagnosis to treatment options, namely conservative versus surgical ones. Our institutional bundle, specific to the paediatric population, is also presented. This approach aims to significantly reduce the risk of infection in first-line cranioplasty and redo cranioplasty after previous infection. CONCLUSIONS: A thorough knowledge and understanding of risk factors may lead to surgical strategies and bundles, aiming to reduce infectious complications of cranioplasty. Finally, innovation in materials used for cranial repair should also aim to enhance the antimicrobial properties of these inert materials.

6.
Childs Nerv Syst ; 35(9): 1467-1471, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31134339

RESUMO

INTRODUCTION: Cranioplasty aims at restoring the physiological integrity and volume of the skull. Any disproportion between the intracranial content and the volume of the container may favor the occurrence of complications. A classification of volume mismatches is proposed. A negative mismatch, consisting of intracranial content minor to skull volume, is well represented by the sinking flap. On the other side, a positive mismatch, consisting of intracranial content higher than skull volume, usually depends on CSF collection or hydrocephalus once the brain edema is regressed. Though, in children, this condition may result from physiological brain growth after decompressive craniectomy. Treatment algorithm based on this classification is presented. ILLUSTRATIVE CASE: A 1-year-old boy with a severe traumatic brain injury underwent right decompressive craniectomy, evacuation of subdural hematoma, and dural expansion at another institution. After failure of autologous bone-assisted cranioplasty for infection, a helmet was recommended in order to postpone the cranial repair. Patient was admitted to our institution 3 years later. CT scan showed brain herniation through the cranial defect, associated to a condition of acquired craniocerebral disproportion, due to the condition of "open skull". Augmented hydroxyapatite cranioplasty (CustomBone, Finceramica, Faenza, Italy) was performed in order to manage this rare condition of positive volume mismatch. Subsequent course was uneventful and no complication was recorded at 30-month follow-up. CONCLUSIONS: This illustrative case highlights the possible occurrence of a positive structural mismatch between the skull and the intracranial content after decompressive craniectomy, thus configuring a condition of acquired craniocerebral disproportion, aside of other brain or CSF complications. We firstly recognize this condition in the literature and propose it as a possible factor affecting the outcome of cranioplasty in infants and young children.

7.
Childs Nerv Syst ; 35(9): 1459-1465, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31089851

RESUMO

BACKGROUND: Postnatal growth of neurocranium is prevalently completed in the first years of life, thus deeply affecting the clinical presentation and surgical management of pediatric neurosurgical conditions involving the skull. This paper aims to review the pertinent literature on the normal growth of neurocranium and critically discuss the surgical implications of this factor in cranial repair. METHODS: A search of the electronic database of Pubmed was performed, using the key word "neurocranium growth", thus obtaining 217 results. Forty-six papers dealing with this topic in humans, limited to the English language, were selected. After excluding a few papers dealing with viscerocranium growth or pathological conditions not related to normal neurocranium growth 18 papers were finally included into the present review. RESULTS AND CONCLUSIONS: The skull growth is very rapid in the first 2 years of life and approximates the adult volume by 7 years of age, with minimal further growth later on, which is warranted by the remodeling of the cranial bones. This factor affects the outcome of cranioplasty. Thus, it is essential to consider age in the planning phase of cranial repair, choice of the material, and critical comparison of results of different cranioplasty solutions.

8.
World Neurosurg ; 126: 423-427, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30904804

RESUMO

BACKGROUND: Different treatment options have been proposed for aneurysmal bone cysts (ABCs) with sclerotherapy favored as primary treatment and surgery remaining the mainstay of treatment in case of compression of neural structures. Recurrent spinal ABCs are burdened by increased risk of spinal deformity and instability, further complicating the management of these cases. CASE DESCRIPTION: A 15-year-old boy presented with acute symptoms and signs of spinal cord compression due to a large thoracic ABC. Subtotal resection of the lesion achieved optimal decompression of neural structures with good neurologic recovery, but the remnant of the lesion rapidly grew with recurrent spinal cord compression after 40 days. The patient underwent total surgical resection with full neurologic recovery. Unfortunately, recurrence of the lesion was documented at 3-months' follow-up. This was successfully treated with percutaneous injection of hydroxyapatite cement. Two years' follow-up ruled out any further recurrence of the lesion. Furthermore, spinal deformity and instability were also excluded. CONCLUSIONS: Percutaneous sclerotherapy with hydroxyapatite cement proved to be highly effective and safe in the treatment of spinal ABC, though surgery remains mandatory in case of spinal cord compression. The main advantage of sclerotherapy with hydroxyapatite cement seems to be the capacity to regenerate bone with normal radiologic features.


Assuntos
Cistos Ósseos Aneurismáticos/terapia , Escleroterapia/métodos , Compressão da Medula Espinal/etiologia , Adolescente , Cistos Ósseos Aneurismáticos/complicações , Humanos , Hidroxiapatitas , Masculino , Recidiva , Escleroterapia/instrumentação , Prevenção Secundária/métodos , Resultado do Tratamento
9.
World Neurosurg ; 126: e625-e633, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30831297

RESUMO

BACKGROUND: Piezosurgery (PS) has gained increasing dispersion in neurosurgery. In pediatric neurosurgery, the experience is limited to craniosynostosis surgery. The present study assesses PS in the pediatric population, also considering outcomes and complications in cranial and spinal procedures. METHODS: All consecutive craniotomies and laminotomies, performed with PS (group A) or conventional osteotomes (group B) in the 2014-2017 period were reviewed. The following variables were analyzed: dural tears, estimated blood loss and need of transfusion, cosmetic outcome (Sloan score), and operative times. A review of the pertinent literature is included. RESULTS: 172 children were enrolled, 90 in group A and 82 in group B. The mean follow-up time was 2.1 years. A statistically significant difference in favor of group A was found about EBL (105 vs. 113 ml) and late outcome (Sloan class A 98.5% vs. 91.5%). PS also reduced the risk of dural tears (1 vs. 7 cases in groups A and B, respectively) and blood transfusion (52% vs. 55.5%) but without statistical significance. The operative times were significantly shorter in group B (13 vs. 23 minutes), although the newer PS plus (PSP) was demonstrated to significantly shorten these times compared with the traditional PS (3.5 vs. 6.5 minutes for orbitotomy and 7.5 vs. 9.5 minutes for hemicraniotomy). CONCLUSIONS: PS is a safe and effective tool that can be specifically recommended for bone splitting and graft, laminotomy, and craniotomy in cosmetically eloquent areas. The limit of operation times can be overcome by a learning curve in neurosurgery and PSP.


Assuntos
Craniotomia/métodos , Laminectomia/métodos , Neurocirurgia/métodos , Pediatria/métodos , Piezocirurgia/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Procedimentos Neurocirúrgicos/métodos , Estudos Retrospectivos
10.
Childs Nerv Syst ; 35(5): 899, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30848335

RESUMO

Unfortunately in the original publication, the affiliation provided for the author G. Tamburrini was incorrect. The correct affiliation for G. Tamburrini should read as follows.

12.
Acta Neurochir Suppl ; 125: 119-124, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30610311

RESUMO

BACKGROUND: Several surgical techniques are used for the management of Chiari malformation type I (CM-I). Bony posterior fossa decompression is considered a good option in children, though with a higher risk of requiring reoperation. However, there is not enough evidence from the series in the literature, which are often limited by inadequate follow-up. The goal of this study was to assess the effectiveness of suboccipital craniectomy alone in children after long-term follow-up. METHODS: Forty-two children (25 female and 17 male; mean age 6.7 years), operated on with bony decompression alone, were retrospectively reviewed. All patients underwent suboccipital craniectomy. Thirty-eight children required C1 laminectomy, and 21 also underwent dural delamination on the basis of intraoperative ultrasound investigations. The outcome was assessed using the traditional measurement and the Chicago Chiari Outcome Scale (CCOS). The mean follow-up period was 11.3 years (range 5-15 years). RESULTS: Headache was the most frequent preoperative symptom (81%), followed by neck pain (40%), vertigo (40%), ataxia (26%), and upper and lower extremity paraesthesia (26%). Syringomyelia was present in 19 patients (45%). Resolution and significant improvement of preoperative clinical symptoms were observed in 36.5% and 21.5% of cases, respectively. Three children required adjunctive surgery for symptom recurrence (7%). The tonsil position and syringomyelia were normalized or improved in 50% and 79% of cases, respectively. No complications occurred. According to the CCOS scores, 69.5% of children had an excellent outcome, 28.5% had a functional outcome and 2% had an impaired outcome. CONCLUSION: Bony decompression alone is an effective, safe and long-lasting treatment for children with CM-I. A certain risk of symptom recurrence requiring new surgery exists, but it is widely counterbalanced by the low risk of complications. Careful patient selection is crucial for a good outcome. Prospective and randomized studies are needed for further validation.


Assuntos
Malformação de Arnold-Chiari/cirurgia , Craniectomia Descompressiva/métodos , Osso Occipital/cirurgia , Malformação de Arnold-Chiari/diagnóstico por imagem , Criança , Descompressão Cirúrgica/métodos , Feminino , Seguimentos , Humanos , Laminectomia , Imagem por Ressonância Magnética , Masculino , Osso Occipital/diagnóstico por imagem
13.
Acta Neurochir Suppl ; 125: 253-258, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30610330

RESUMO

BACKGROUND: Craniovertebral junction (CVJ) instrumentation and fusion in childhood are frequently performed with either sublaminar wires or screws in lateral masses, and both are considered quite safe procedures. METHODS: Our experience deals with 12 children: six (mean age 9.5 years) harbouring a congenital instability associated with Down's or Morquio's syndromes and primary os odontoideum; and six (mean age 11.5 years) with acquired iatrogenic instability due to transoral anterior decompression for different reasons (inferior clivectomy, anterior arch removal and odontoidectomy). All patients in the 'congenital group', except for one, had preoperative dynamic x-rays and underwent surgical correction by means of posterior wiring, fusion and an external orthosis. All patients in the 'iatrogenic group' had no preoperative dynamic x-rays and underwent a screwing technique with fusion and an external orthosis. RESULTS: The postoperative clinical picture had improved in all patients at the latest follow-up (observation range 63-202 months [mean 118.5 months]), with neuroradiological confirmation of satisfactory bony fusion and with neural decompression in all patients. CONCLUSION: Although it requires a more accurate preoperative neuroradiological setting, the screwing technique takes less time and is characterized by less blood loss and less postoperative discomfort than the wiring technique. The latter features confirm the simplicity, safety (continuous fluoroscopic assistance is not necessary, and there is no risk of neurovascular injuries) and lower expense (neither complex hardware devices nor neuronavigation systems are required) of the screwing technique.


Assuntos
Vértebra Cervical Áxis/cirurgia , Vértebras Cervicais/cirurgia , Anormalidades Craniofaciais/cirurgia , Crânio/cirurgia , Fusão Vertebral/métodos , Parafusos Ósseos , Fios Ortopédicos , Vértebras Cervicais/anormalidades , Criança , Descompressão Cirúrgica , Humanos , Crânio/anormalidades , Fusão Vertebral/instrumentação
14.
J Neurooncol ; 140(2): 457-465, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30109673

RESUMO

PURPOSE: The aims of patients' radiological surveillance are to: ascertain relapse; apply second-line therapy; accrue patients in phase 1/2 protocols if second-line therapy is not standardized/curative; and assess/treat iatrogenic effects. To lessen the emotional and socioeconomic burdens for patients and families, we ideally need to establish whether scheduled radiological surveillance gives patients a better outcome than waiting for symptoms and signs to appear. METHODS: We analyzed a prospective series of 160 newly-diagnosed and treated pediatric/adolescent patients with intracranial ependymoma, comparing patients with recurrent disease identified on scheduled MRI (the RECPT group; 34 cases) with those showing signs/symptoms of recurrent disease (the SYMPPT group; 16 cases). The median follow-up was 67 months. RESULTS: No significant differences emerged between the two groups in terms of gender, age, tumor grade/site, shunting, residual disease, or type of relapse (local, distant, or concomitant). The time to relapse (median 19 months; range 5-104) and the MRI follow-up intervals did not differ between the SYMPPT and RECPT groups. The presence of signs/symptoms was an unfavorable factor for overall survival (OS) after recurrence (5-year OS: 8% vs. 37%, p = 0.001). On multivariable analysis, an adjusted model confirmed a significantly worse OS in the SYMPPT than in the RECPT patients. CONCLUSIONS: Symptomatic relapses carried a significantly worse survival for ependymoma patients than recurrences detected by MRI alone. It would therefore be desirable to identify recurrences before symptoms develop. Radiological follow-up should be retained in ependymoma patient surveillance because there is a chance of salvage treatment for relapses found on MRI.


Assuntos
Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/terapia , Ependimoma/diagnóstico , Ependimoma/terapia , Adolescente , Neoplasias Encefálicas/mortalidade , Criança , Pré-Escolar , Protocolos Clínicos , Ependimoma/mortalidade , Feminino , Seguimentos , Humanos , Imagem por Ressonância Magnética , Masculino , Recidiva Local de Neoplasia , Prognóstico , Estudos Prospectivos
15.
Childs Nerv Syst ; 34(11): 2283-2289, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29987377

RESUMO

BACKGROUND: CustomBone Service (CBS) is a patient-specific, biocompatible, and osteoconductive device made of porous hydroxyapatite, indicated for cranial reconstruction in adults and children. Adult literature data report a failure rate of about 8%. The aim of this Post-Marketing Surveillance study is to verify the hypothesis that CBS in children aged 7-13 years old shows a failure rate not superior to adults. MATERIALS AND METHODS: Inclusion criteria were age at implantation ranging 7-13 years old, with at least 1 year elapsed from the date of surgery. The degree of satisfaction of surgeons and patients was assessed. RESULTS: Data about 76 implants in 67 patients (M:F = 41:26) were obtained from 28 centers across 7 European countries. The mean age at surgery was 10.03 ± 1.72 years, with age stratification almost equally distributed. Fifty-nine subjects received one CBS, 7 subjects two and one subject received three CBS. Main etiologies were trauma (60.5%), malformation (11.8%), bone tumor (10.5%), and cerebral tumor (7.9%). Main indications to CBS were decompression (47.4%), autologous bone resorption (18.4%), tumor resection (11.8%), malformation (9.2%), comminuted fracture (5.3%), and other materials rejection (5.3%). Main implantation sites were fronto-parieto-temporal (26.3%), parietal (23.7%), frontal (11.8%), fronto-temporal (10.5%), and parieto-temporal (7.9%). CBS was chosen as first line of treatment in 63.1% of the cases. Mean follow-up was about 36 months. Eleven adverse events (14.5%) were reported in nine devices. Five CBS required explantation (three cases of infection, one fracture, and one mobilization). Failure rate was 6.58%, which is statistically not superior to the explantation rate recorded in adults (two-sided 95%, CI 2.2-14.7%). Satisfaction of surgeons and patients was of about 95%. CONCLUSION: CBS is a safe and effective solution for cranial repair in pediatric patients. In particular, over the age of 7, CBS shows a rate of failure as low as in adults.


Assuntos
Substitutos Ósseos/uso terapêutico , Durapatita , Vigilância de Produtos Comercializados , Próteses e Implantes , Procedimentos Cirúrgicos Reconstrutivos , Adolescente , Criança , Craniectomia Descompressiva/efeitos adversos , Feminino , Humanos , Masculino
16.
Bone ; 112: 58-70, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29674126

RESUMO

Nonsyndromic craniosynostosis (NCS) is the premature ossification of skull sutures, without associated clinical features. Mutations in several genes account for a small number of NCS patients; thus, the molecular etiopathogenesis of NCS remains largely unclear. Our study aimed at characterizing the molecular signaling implicated in the aberrant ossification of sutures in NCS patients. Comparative gene expression profiling of NCS patient sutures identified a fused suture-specific signature, including 17 genes involved in primary cilium signaling and assembly. Cells from fused sutures displayed a reduced potential to form primary cilia compared to cells from control patent sutures of the same patient. We identified specific upregulated splice variants of the Bardet Biedl syndrome-associated gene 9 (BBS9), which encodes a structural component of the ciliary BBSome complex. BBS9 expression increased during in vitro osteogenic differentiation of suture-derived mesenchymal cells of NCS patients. Also, Bbs9 expression increased during in vivo ossification of rat sutures. BBS9 functional knockdown affected the expression of primary cilia on patient suture cells and their osteogenic potential. Computational modeling of the upregulated protein isoforms (observed in patients) predicted that their binding affinity within the BBSome may be affected, providing a possible explanation for the aberrant suture ossification in NCS.


Assuntos
Cílios/metabolismo , Suturas Cranianas/patologia , Craniossinostoses/genética , Proteínas de Neoplasias/genética , Osteogênese/genética , Processamento Alternativo/genética , Animais , Diferenciação Celular/genética , Proteínas do Citoesqueleto , Éxons/genética , Feminino , Perfilação da Expressão Gênica , Regulação da Expressão Gênica , Técnicas de Silenciamento de Genes , Proteínas Hedgehog/metabolismo , Humanos , Lactente , Masculino , Proteínas de Neoplasias/química , Isoformas de Proteínas/química , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Ratos Wistar , Transdução de Sinais
17.
Childs Nerv Syst ; 34(5): 817-823, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29520437

RESUMO

BACKGROUND: Primary central nervous system (CNS) neuroblastoma is a rare intracranial tumor affecting children mainly in the first years of life. It is usually a supratentorial tumor with a wide spectrum of clinical presentation, seizures, and focal neurological deficits being the most common presenting signs. CASE DESCRIPTION: A 2-year-old child was admitted to our ward after a generalized seizure. Neurological examination was normal. Radiological studies showed a small DWI hyperintense lesion of the right rectus gyrus. Follow-up brain MRI 8 months later showed a huge growth of the tumor (90 × 80 × 65 mm) with polycyclic and apparently defined margins, cystic components, and diffuse contrast enhancement. Complete tumor removal was performed in two planned surgical steps. Histological diagnosis was CNS neuroblastoma. At a follow-up of 8 months, the child is in good clinical and neurological condition and is completing chemotherapy treatment according to the SIOP PNET 4 protocol. DISCUSSION AND CONCLUSION: A thorough review of the literature confirms that primary CNS neuroblastoma has to be considered a distinct entity. The disease related mortality is 12.5%, lower than the one usually reported for other previously described as PNETs tumors. The most relevant factors influencing prognosis are the possibility of obtaining a complete tumor removal and age more than 3 years, which allows to include radiotherapy among treatment options.


Assuntos
Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Neoplasias do Sistema Nervoso Central/cirurgia , Neuroblastoma/diagnóstico por imagem , Neuroblastoma/cirurgia , Pré-Escolar , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Tomógrafos Computadorizados
18.
Childs Nerv Syst ; 33(10): 1759-1768, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29149388

RESUMO

Cranial repair after traumatic brain injury in children is still burdened by unsolved problems and controversial issues, mainly due to the high rate of resorption of autologous bone as well as the absence of valid alternative material to replace the autologous bone. Indeed, inert biomaterials are associated to satisfactory results in the short period but bear the continuous risk of complications related to the lack of osteointegration capacity. Biomimetic materials claiming osteoconductive properties that could balance their mechanical limits seem to allow good cranial bone reconstruction. However, these results should be confirmed in the long term and in larger series. Further complicating factors that may affect cranial reconstruction after head injury should be identified in the possible associated alterations of CSF dynamics and in difficulties to manage the traumatic skin lesion and the surgical wound, which also might impact on the cranioplasty outcome. All the abovementioned considerations should be taken into account when dealing with the cranial reconstruction after decompressive craniectomy in children.


Assuntos
Lesões Encefálicas Traumáticas/cirurgia , Craniectomia Descompressiva/métodos , Procedimentos Cirúrgicos Reconstrutivos/métodos , Transplante Ósseo , Lesões Encefálicas Traumáticas/diagnóstico por imagem , Criança , Pré-Escolar , Humanos , Imagem por Ressonância Magnética , Próteses e Implantes , Fatores de Tempo
19.
Cancer Res ; 77(21): 5860-5872, 2017 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-29092923

RESUMO

The basis for molecular and cellular heterogeneity in ependymomas of the central nervous system is not understood. This study suggests a basis for this phenomenon in the selection for mitogen-independent (MI) stem-like cells with impaired proliferation but increased intracranial tumorigenicity. MI ependymoma cell lines created by selection for EGF/FGF2-independent proliferation exhibited constitutive activation of EGFR, AKT, and STAT3 and sensitization to the antiproliferative effects of EGFR tyrosine kinase inhibitors (TKI). One highly tumorigenic MI line harbored membrane-bound, constitutively active, truncated EGFR. Two EGFR mutants (ΔN566 and ΔN599) were identified as products of intrachromosomal rearrangements fusing the 3' coding portion of the EGFR gene to the 5'-UTR of the SEC61G, yielding products lacking the entire extracellular ligand-binding domain of the receptor while retaining the transmembrane and tyrosine kinase domains. EGFR TKI efficiently targeted ΔN566/ΔN599-mutant-mediated signaling and prolonged the survival of mice bearing intracranial xenografts of MI cells harboring these mutations. RT-PCR sequencing of 16 childhood ependymoma samples identified SEC61G-EGFR chimeric mRNAs in one infratentorial ependymoma WHO III, arguing that this fusion occurs in a small proportion of these tumors. Our findings demonstrate how in vitro culture selections applied to genetically heterogeneous tumors can help identify focal mutations that are potentially pharmaceutically actionable in rare cancers. Cancer Res; 77(21); 5860-72. ©2017 AACR.


Assuntos
Ependimoma/genética , Receptores ErbB/genética , Canais de Translocação SEC/genética , Células-Tronco/metabolismo , Sequência de Aminoácidos , Animais , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Proliferação de Células/genética , Criança , Células Clonais , Ependimoma/metabolismo , Ependimoma/patologia , Receptores ErbB/antagonistas & inibidores , Receptores ErbB/metabolismo , Regulação Neoplásica da Expressão Gênica , Humanos , Estimativa de Kaplan-Meier , Masculino , Camundongos Nus , Mitógenos/farmacologia , Mutação , Inibidores de Proteínas Quinases/farmacologia , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Canais de Translocação SEC/metabolismo , Células-Tronco/efeitos dos fármacos , Transplante Heterólogo
20.
Neuro Oncol ; 19(10): 1398-1407, 2017 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-28499018

RESUMO

Background: Craniopharyngiomas are frequent hypothalamo-pituitary tumors in children, presenting predominantly as cystic lesions. Morbidity from conventional treatment has focused attention on intracystic drug delivery, hypothesized to cause fewer clinical consequences. However, the efficacy of intracystic therapy remains unclear. We report the retrospective experiences of several global centers using intracystic interferon-alpha. Methods: European Société Internationale d'Oncologie Pédiatrique and International Society for Pediatric Neurosurgery centers were contacted to submit a datasheet capturing pediatric patients with cystic craniopharyngiomas who had received intracystic interferon-alpha. Patient demographics, administration schedules, adverse events, and outcomes were obtained. Progression was clinical or radiological (cyst reaccumulation, novel cysts, or solid growth). Results: Fifty-six children (median age, 6.3 y) from 21 international centers were identified. Median follow-up from diagnosis was 5.1 years (0.3-17.7 y). Lesions were cystic (n = 22; 39%) or cystic/solid (n = 34; 61%). Previous progression was treated in 43 (77%) patients before interferon use. In such cases, further progression was delayed by intracystic interferon compared with the preceding therapy for cystic lesions (P = 0.0005). Few significant attributable side effects were reported. Progression post interferon occurred in 42 patients (median 14 mo; 0-8 y), while the estimated median time to definitive therapy post interferon was 5.8 (1.8-9.7) years. Conclusions: Intracystic interferon-alpha can delay disease progression and potentially offer a protracted time to definitive surgery or radiotherapy in pediatric cystic craniopharyngioma, yet demonstrates a favorable toxicity profile compared with other therapeutic modalities-important factors for this developing age group. A prospective, randomized international clinical trial assessment is warranted.


Assuntos
Craniofaringioma/radioterapia , Interferon-alfa/metabolismo , Neoplasias Hipofisárias/radioterapia , Adolescente , Criança , Pré-Escolar , Craniofaringioma/metabolismo , Feminino , Humanos , Injeções Intralesionais/métodos , Masculino , Estudos Retrospectivos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA