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1.
Childs Nerv Syst ; 2020 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-32617710

RESUMO

BACKGROUND: Many efforts have been performed in the last decade to accomplish the genomic and proteomic characterization of pediatric adamantinomatous craniopharyngioma with the purpose to elucidate the molecular mechanisms underlying the onset and development of this pediatric brain tumor, its high recurrence rate, and, although classified as a histologically benign neoplasm, its aggressive behavior. METHODS: The focus of this review is to perform the new comparison of the proteomic profiles of the solid component and the intracystic fluid of adamantinomatous craniopharyngioma based on our previous results, obtained by both the top-down and the bottom-up proteomic approaches, to disclose differences and similarities, and to discuss the results in the context of the most recent literature. RESULTS AND CONCLUSIONS: Proteins and peptides identified in the cyst fluid and in the solid component of adamantinomatous craniopharyngioma (AC) include beyond markers of inflammation (i.e., alpha-defensins), proteins involved in cell migration and protein degradation (i.e., beta-thymosin and ubiquitin peptides), whose main role might be in tumor growth and infiltration of the surrounding neural structures. These last appeared different in the solid components compared with the cyst fluid, missing their terminal part in the solid tissue, a feature generally associated to malignancies, which might represent a distinct molecular site for an aggressive behavior of AC.

2.
Int J Mol Sci ; 21(12)2020 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-32575385

RESUMO

All skeletal bones house osteogenic stem cell niches, in which mesenchymal stromal cells (MSC) provide progenitors for tissue growth and regeneration. They have been widely studied in long bones formed through endochondral ossification. Limited information is available on the composition of the osteogenic niche in flat bones (i.e., skull vault bones) that develop through direct membranous ossification. Craniosynostosis (CS) is a congenital craniofacial defect due to the excessive and premature ossification of skull vault sutures. This study aimed at analysing the expression of GLI1, AXIN2 and THY1 in the context of the human skull vault, using nonsyndromic forms of CS (NCS) as a model to test their functional implication in the aberrant osteogenic process. The expression of selected markers was studied in NCS patients' calvarial bone specimens, to assess the in vivo location of cells, and in MSC isolated thereof. The marker expression profile was analysed during in vitro osteogenic differentiation to validate the functional implication. Our results show that GLI1 and AXIN2 are expressed in periosteal and endosteal locations within the osteogenic niche of human calvarial bones. Their expression is higher in MSC isolated from calvarial bones than in those isolated from long bones and tends to decrease upon osteogenic commitment and differentiation. In particular, AXIN2 expression was lower in cells isolated from prematurely fused sutures than in those derived from patent sutures of NCS patients. This suggests that AXIN2 could reasonably represent a marker for the stem cell population that undergoes depletion during the premature ossification process occurring in CS.

3.
Childs Nerv Syst ; 2020 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-32548672

RESUMO

INTRODUCTION: Securing the catheter to the skin either with sutures or staples and to the skull with bolt system still represents the most common options in the management of CSF external drainage. However, these options bear an unavoidable risk of complications. This problem is common to vascular accesses and has been successfully overcome with the introduction of device for subcutaneous anchoring (SecurAcath®, Interrad Medical, Inc., Plymouth, Minnesota), which has rapidly become the standard of care in this field. METHODS: We report our experience with the use of SecurAcath® to secure CSF drainage, either ventricular or spinal. Results were compared with literature data. RESULTS: Since 2015, SecurAcath® was used in 209 patients (mean age 7 years) to secure 195 external cranial catheters (either ventricular or subdural or intralesional) and 16 spinal drainages. Indwell time ranged from 5 to 30 days. No complication related to the use of the device was observed. In particular, there was no case of dislocation or accidental pullout of the catheter. Rate of infection, or superinfection in case of ventricular catheter implanted for CSF infection, was null. CONCLUSIONS: SecurAcath® is a safe and effective device to secure CSF external catheters, with several relevant advantages, including easy placement and maintenance. Moreover, it may stay in place for the whole duration of the catheter without any skin tissue trauma and allows a complete antisepsis of the exit site, thus reducing local skin complications. This factor has significant impact on the reduction of infection rate of external CSF catheters.

4.
Childs Nerv Syst ; 2020 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-32542405

RESUMO

INTRODUCTION: High-grade neuroepithelial tumor with BCOR alteration (HGNET BCOR) has been recently classified as a new category of tumors among those previously known as PNET. They are molecularly characterized by the mutation of the BCOR gene, a corepressor of BCL6 a gene (which has an important role in immune responses). Only case reports and very small series have been published so far; therefore, their behavior and management are still under investigation. The goal of the present case-based review is to provide a summary about the state of the art on these tumors. METHODS AND RESULTS: The pertinent review has been reviewed, and an exemplary case has been reported (15-month-old boy with large HGNET BCOR of the left cerebellopontine angle). So far, 24 cases have been described, with a 5.5 mean age at diagnosis and a 1.4 male/female ratio. The cerebellar hemisphere is the more frequently involved region. No metastases are usually detected at diagnosis, though they are common in case of tumor recurrence. There are no specific radiological or pathological features to differentiate HGNET BCOR from other brain malignant neuroepithelial tumors so that the differential diagnosis is obtained by DNA methylation profiling. The management possibly relies on surgery and (high dose) chemotherapy and radiotherapy but without a dedicated protocol yet. The overall survival after 48-month follow-up is 50%. A gross total resection, which is mandatory for a better outcome, is achievable in the majority of cases. CONCLUSIONS: The clinical research on HGNET BCOR is just at the beginning. New targets and wide-ranging clinical trials are needed to get an optimal management.

5.
Childs Nerv Syst ; 2020 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-32564157

RESUMO

PURPOSE: Sturge-Weber syndrome (SWS) is a neurocutaneous facomatosis characterized by facial and leptomeningeal angioma, glaucoma, seizures, and neurological disability. Therefore, a challenging multidisciplinary interaction is required for its management. The goal of this paper is to review the main aspects of SWS and to present an illustrative pediatric series. METHODS: The pertinent literature has been analyzed, focused mainly on etiopathogenesis, pathology, clinical features, diagnostic tools, management, and outcome of the disease. Moreover, a series of 11 children operated on for refractory epilepsy between 2005 and 2015 (minimum follow-up 5 years, mean follow-up 9.6 years) is reported. The series consists of six boys and five girls with 6.5-month and 16.2-month mean age at seizure onset and at surgery, respectively. Seizures affected all children, followed by hemiparesis and psychomotor delay (81%), glaucoma (54%), and other neurological deficits (45%). RESULTS: All children underwent hemispherectomy (anatomical in three cases, functional in two cases, hemispherotomy in six cases); one patient needed a redo hemispherotomy. Mortality was nil; disseminated intravascular coagulation and interstitial pneumonia occurred in one patient each; three children had subdural fluid collection. Eight patients (72%) are in the ILAE Class 1 (completely seizure and aura free), two in Class 2 (only auras, no seizure), and one in Class 3 (1-3 seizure days per year). AEDs discontinuation was possible in 73% of cases. The most important news from the literature concerned the pathogenesis (role of the mutation of the GNAQ gene in the abnormal SWS vasculogenesis), the clinical findings (the features and pathogenesis of the stroke-like episodes are being understood), the diagnostic tools (quantitative MRI and EEG), and both the medical (migraine, seizures) and surgical management (epilepsy). The epileptic outcome of SWS patients is very good (80% are seizure-free), if compared with other hemispheric syndromes. The quality of life is affected by the neurological and cognitive deficits. CONCLUSIONS: SWS still is an etiological and clinical challenge. However, the improvements over the time are consistent. In particular, the neurosurgical treatment of refractory epilepsy provides very good results as long as the indication to treatment is correct.

6.
World Neurosurg ; 2020 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-32585377

RESUMO

OBJECTIVE: Two degrees of posterior cranial fossa (PCF) maldevelopment can be hypothesized in children with myelomeningocele (MMC). This paper investigate the PCF deformation by quantitative MRI analysis in MMC subjects with and without Chiari 2 malformation (CM2). METHODS: Posterior cranial fossa volume (PCFV), posterior cranial fossa brain volume (PCFBV), lengths of PCF, ventriculomegaly, level and extension of the dysraphism were analyzed in magnetic resonance imaging (MRI) of 51 newborns with MMC surgically repaired at birth (and 41 controls). The possible correlation among PCF hypoplasia, level/extension of the spinal dysraphism and ventriculomegaly was assessed. RESULTS: In MMC and CM2, the dysraphism level was above L4 in 30 and below L4 in 10 subjects. PCFV/PCFBV ratio, supraocciput and exocciput lengths were significantly reduced; foramen magnum diameters, mammillo-pontine distance and pons length were significantly increased (p < 0.05). In isolated MMC, the dysraphism level was below L4 in all cases. PCFV/PCFBV ratio and supraocciput length were significantly reduced; pons length was significantly increased (p < 0.05). The lower the MMC level, the lower the incidence of CM2. A positive correlation was found between PCF hypoplasia and MMC level above L4 (p < 0.001), while a negative correlation was found between PCF hypoplasia and MMC extension (p = 0.006), PCF hypoplasia and ventriculomegaly (p = 0.02). CONCLUSIONS: PCF hypoplasia has to be considered a dynamic maldevelopment process in the two cohorts rather than two separated entities. The level of MMC is the main but not the unique cause influencing the severity of PCF maldevelopment.

7.
Acta Neuropathol Commun ; 8(1): 68, 2020 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-32404202

RESUMO

Adamantinomatous craniopharyngioma (ACP) is a biologically benign but clinically aggressive lesion that has a significant impact on quality of life. The incidence of the disease has a bimodal distribution, with peaks occurring in children and older adults. Our group previously published the results of a transcriptome analysis of pediatric ACPs that identified several genes that were consistently overexpressed relative to other pediatric brain tumors and normal tissue. We now present the results of a transcriptome analysis comparing pediatric to adult ACP to identify biological differences between these groups that may provide novel therapeutic insights or support the assertion that potential therapies identified through the study of pediatric ACP may also have a role in adult ACP. Using our compiled transcriptome dataset of 27 pediatric and 9 adult ACPs, obtained through the Advancing Treatment for Pediatric Craniopharyngioma Consortium, we interrogated potential age-related transcriptional differences using several rigorous mathematical analyses. These included: canonical differential expression analysis; divisive, agglomerative, and probabilistic based hierarchical clustering; information theory based characterizations; and the deep learning approach, HD Spot. Our work indicates that there is no therapeutically relevant difference in ACP gene expression based on age. As such, potential therapeutic targets identified in pediatric ACP are also likely to have relvance for adult patients.

8.
Childs Nerv Syst ; 2020 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-32388813

RESUMO

PURPOSE: For selected children with medically intractable epilepsy, hemispherectomy can be an excellent treatment option and its efficacy in achieving seizure freedom or reduction in seizure frequency has been shown in several studies, but patients' selection could not be straightforward and often it is taken on subjective basis. We described a multimodal approach to assess patient eligible for hemispherectomy and possibly predicting post-surgical outcomes. METHODS: We describe pre- and post-surgical clinical features along with neuroradiological results by magnetic resonance imaging (MRI), functional magnetic resonance imaging (fMRI), MR-tractography (MRT), and neurophysiological study by single and paired pulses transcranial magnetic stimulation (TMS) in a child with cerebral palsy with epileptic encephalopathy, eligible for epilepsy surgery. RESULTS: Presurgical TMS evaluation showed a lateralization of motor function on the left motor cortex for both arms, and results were confirmed by MRI studies. Interestingly, after surgery, both epilepsy and motor performances improved and TMS showed enhancement of intracortical inhibition and facilitation activity. CONCLUSION: Functional hemispherectomy is an effective treatment for drug-resistant epilepsy, and multimodal presurgical assessment may be a useful approach to guide surgeons in selecting patients. Moreover, pre- and post-surgical evaluation of these patients may enhance our understanding of brain plasticity phenomena.

9.
Ann Ist Super Sanita ; 56(1): 48-58, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32242535

RESUMO

BACKGROUND: Syringomyelia and Chiari Syndrome are classified as rare diseases, but current known occurrence in Europe is missing. The increased ability to diagnose these pathologies by magnetic resonance imaging and its widespread availability has led to an increase of reported cases, often asymptomatic, with the need to standardize definitions, diagnostic criteria and treatments. AIMS: We present shared Interregional Recommendations developed with the primary aim to estimate Syringomyelia and Chiari Syndrome prevalence and incidence in North Western Italy, with special reference to symptomatic forms. METHODS: An agreement for the standardization of definitions, classifications, diagnostic criteria and surgical Recommendations was reached by the multidisciplinary Interregional Piemonte and Valle d'Aosta Chiari-Syringomyelia Consortium (Delphi method); next, in 2011 a census for Syringomyelia and Chiari Malformation was performed through the Interregional Piemonte and Valle d'Aosta Rare Disease Registry, integrated by a dedicated form in order to estimate prevalence and incidence. RESULTS: 436 patients, 292 females, met shared interregional diagnostic criteria. Syringomyelia prevalence was estimated in 4.84:100 000; Chiari Malformation prevalence was 7.74:100 000; incidence was 0.82:100 000 and 3.08:100 000 respectively. Demographics, neuroradiological parameters and aetiology were reported (in symptomatic and asymptomatic forms). Finally, symptoms and signs, familiar and natural history were analyzed. CONCLUSIONS: First Italian epidemiological data (prevalence, incidence) on Chiari and syringomyelia was collected, according to shared diagnostic Recommendations. Future perspectives include the adoption of these Recommendations at national level to standardize the access to diagnosis and care process and promote multicenter clinical trials.

10.
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.

11.
J Comput Assist Tomogr ; 44(3): 374-379, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32176157

RESUMO

The aim of this study was to identify quantitative tools to classify the severity of trigonocephaly to guide surgical management and predict outcome. METHODS: We reviewed high-resolution computed tomography images of 59 patients with metopic synostosis. We assessed the craniofacial sutural pattern as well as interfrontal and metopic angles, and we related the frontal angulation degree with the sutural pattern, the surgical management, and clinical outcome. RESULTS: We identified 3 groups according to the severity of trigonocephaly. No difference was found between the sutural pattern of nasion complex and severity, whereas the closure of zygomatic maxillary sutures increased with the severity degree (P < 0.05). The operative management was related to the severity degree (P < 0.001) and to the reduced age (P = 0.009). CONCLUSIONS: Interfrontal and metopic angles are complementary measurements to evaluate with high accuracy the degree of frontal angulation. In preoperative assessment, they may guide surgery decision in particular when the choice is not straightforward.


Assuntos
Suturas Cranianas/diagnóstico por imagem , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Tomografia Computadorizada por Raios X , Estudos de Coortes , Suturas Cranianas/patologia , Craniossinostoses/classificação , Craniossinostoses/patologia , Feminino , Humanos , Lactente , Masculino , Índice de Gravidade de Doença
12.
Radiol Med ; 125(6): 585-594, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32067161

RESUMO

PURPOSE: Among patients with isolated sagittal synostosis (ISS), the head shape varies considerably in relation to the severity of the abnormality. This study aimed to quantify skull base morphometry and intracranial volume to investigate their relationships with the severity of scaphocephaly. METHODS: We studied 66 infants with ISS identifying three groups according to the morphological severity of cranial deformity (group I: mild deformity; group II: moderate deformity; group III: severe deformity), by combining two scaphocephaly severity indices as descriptors of the relation of three morphological measurements (length, width and height) We perform a quantitative analysis using high-resolution CT images calculating following parameters: cranial fossae dimensions, supratentorial (ICV) and infratentorial (PCFV) cranial volume, supratentorial (WBV) and infratentorial (PCFBV) brain volume, ICV/WBV, PCFV/PCFBV, supratentorial and infratentorial cerebrospinal fluid (CSF). RESULTS: In all subgroups, anterior and middle skull base lengths were increased, while posterior hemifossae lengths were unchanged. In mild subgroup, ICV/WBV was significantly different and ICV, WBV and CSF supratentorial volume increased (p < 0.05). In moderate and severe subgroups, FCPV/FCPBV was significantly different and CSF infratentorial volume was reduced (p < 0.05); FCPBV was increased only in the severe subgroup (p < 0.05). CONCLUSION: This morpho-volumetric study provides new insights in understanding the compensatory changes occurring in infants at different stages of scaphocephaly severity. In particular, our study suggests that patients with severe deformity might have an earlier depletion of reserve mechanisms with a reduced compliance of the overall skull during encephalic growth and these patients might require early surgical cranial expansion.


Assuntos
Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Tomografia Computadorizada por Raios X/métodos , Feminino , Humanos , Imageamento Tridimensional , Lactente , Masculino , Estudos Retrospectivos , Índice de Gravidade de Doença , Base do Crânio/diagnóstico por imagem , Base do Crânio/patologia
13.
Childs Nerv Syst ; 36(6): 1263-1273, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31845029

RESUMO

PURPOSE: Craniofacial dysmorphology varies significantly along a wide spectrum of severity in metopic cranial synostosis (MCS). This study aimed to quantify craniofacial changes, in MCS, to investigate their relationships with the severity of trigonocephaly. METHODS: By combining the metopic ridge and interfrontal angles, we identified three groups of trigonocephaly severity (mild group n.14, moderate group n.19, severe group n.18). We perform a quantitative analysis using high-resolution CT images evaluating (1) cranial fossae dimensions; (2) vault indices and ratios: interparietal/ intercoronal (IPD/ICD), interparietal/intertemporal (IPD/ITD), cephalic index, vertico-longitudinal index; (3) orbito-facial distances (midfacial depth, maxillary height, upper facial index, orbital distances, globe protrusions), maxilla and orbital volumes; (4) supratentorial (ICV) and infratentorial (PCFV) cranial volumes and supratentorial (WBV) and infratentorial (PCFBV) brain volumes. RESULTS: In all groups, middle skull base lengths and upper midface index were increased. In moderate and severe groups: anterior hemifossa lengths were reduced, IPD/ICD and vertico-longitudinal index were changed; midfacial depth, anterior, mild, and lateral interorbital distances were reduced; globe protrusions were increased. The comparison between moderate and severe groups showed an increase of both globe protrusions and IPD/ICD. Among all groups, ICV and WBV were reduced in the severe group. CONCLUSION: This morpho-volumetric study provides new insights in understanding the craniofacial changes occurring in infants at different severity of trigonocephaly. The increase of globe protrusions and the reduction of supratentorial volumes found in the severe group reflect the severity of trigonocephaly; these findings might have a clinical and surgical relevance.

15.
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
16.
Cancer Cell ; 36(1): 51-67.e7, 2019 07 08.
Artigo em Inglês | MEDLINE | ID: mdl-31287992

RESUMO

Embryonal tumors with multilayered rosettes (ETMRs) are highly lethal infant brain cancers with characteristic amplification of Chr19q13.41 miRNA cluster (C19MC) and enrichment of pluripotency factor LIN28A. Here we investigated C19MC oncogenic mechanisms and discovered a C19MC-LIN28A-MYCN circuit fueled by multiple complex regulatory loops including an MYCN core transcriptional network and super-enhancers resulting from long-range MYCN DNA interactions and C19MC gene fusions. Our data show that this powerful oncogenic circuit, which entraps an early neural lineage network, is potently abrogated by bromodomain inhibitor JQ1, leading to ETMR cell death.


Assuntos
Neoplasias Encefálicas/etiologia , Cromossomos Humanos Par 19 , MicroRNAs/genética , Família Multigênica , Proteína Proto-Oncogênica N-Myc/genética , Neoplasias Embrionárias de Células Germinativas/etiologia , Proteínas de Ligação a RNA/genética , Biomarcadores Tumorais , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/terapia , Ciclo Celular/genética , Transformação Celular Neoplásica/efeitos dos fármacos , Transformação Celular Neoplásica/genética , Cromossomos Humanos Par 2 , Variações do Número de Cópias de DNA , Elementos Facilitadores Genéticos , Epigênese Genética , Regulação da Expressão Gênica , Redes Reguladoras de Genes , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Modelos Biológicos , Neoplasias Embrionárias de Células Germinativas/diagnóstico , Neoplasias Embrionárias de Células Germinativas/terapia , Oncogenes
17.
Childs Nerv Syst ; 35(10): 1827-1838, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31209642

RESUMO

PURPOSE: The management of Chiari I malformation (CIM) still raises the problem of the optimal surgical treatment, with special regard to the "eternal dilemma" of the posterior fossa bony decompression alone (PFBD) or with duraplasty (PFBDD). The goal of the present review is to update the results (outcome and complications) of both techniques to better understand the correct indication for each of them. METHODS: A review of the literature has been performed, focusing on the articles and the meta-analyses specifically addressing the problem of PFBD vs PFBDD. Also, the personal authors' experience is briefly discussed. RESULTS: PFBD (usually with C1 laminectomy, often with delamination of the external dural layer) is the most commonly used technique in children, especially if syringomyelia is absent. It ensures a high success rate, with > 80% clinical improvement and about 75% reduction of the syringomyelia, and a very low risk of complications, hospital stay, and costs. A certain risk of recurrence is present (2-12%). PFBDD (with autologous tissues or dural substitutes), on the other hand, is mostly used not only in adults but also in children with large syringomyelia. It is burdened by a higher risk of complications (namely, the CSF-related ones), longer hospital stay, and higher costs; however, it warrants a better clinical improvement (> 85%) and a lower risk of reoperation (2-3.5%). Eight meta-analyses of the literature (three on pediatric series and five in adult series) and one prospective study in children, published in the last decade, largely confirm these findings. CONCLUSION: PFBD and PFBDD are different techniques that are indicated for different types of patients. In children, PFBD has been demonstrated to represent the best choice, although some patients may require a more aggressive treatment. Therefore, the success in the management of CIM, with or without syringomyelia, depends on the correct indication to surgery and on a patient-tailored choice rather than on the surgical technique.

18.
Childs Nerv Syst ; 35(8): 1351-1356, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31190181

RESUMO

PURPOSE: This study aimed to develop a novel approach to assess the severity of skull dysmorphology in infants with isolated sagittal synostosis (ISS) and its relationship with the surgical results. METHODS: We divided 66 infants with ISS into three groups by combining the scaphocephalic (SSI-A) and platycephalic (VLI) indices as descriptors of the relation between length, width, and height. We evaluated each skull for morphology as hyperdolichocephalic (< 66%) versus dolichocephalic (66-77%) and as hyperplatycephalic (< 78%) versus platycephalic skull (78-85%). A score system was developed as follows: 2 points for values < 66% and < 78% and 1 point for values between 66 and 77% and 78 and 85% in SSI-A and VLI, respectively. The overall score was calculated and it was used to classify our patients on a 4-point ordinal scale, according to the severity of head shape (2 = mild, 3 = moderate, 4 = severe). RESULTS: Thirty-two infants resulted in mild group, 17 in moderate group, and 17 in severe group. SSI-A and VLI were reduced according to the severity of ISS. We demonstrated a positive correlation between SSA-A and VLI in mild subgroup of patients while we found a negative correlation between SSA-A and VLI in moderate and in severe subgroups. Moreover, a positive correlation was found between severe subgroup and Sloan III class of surgical results. CONCLUSION: This study describes a simple tool to better classify infants with ISS, considering the three-dimensional morphology of the skull, because it evaluates both the dolichocephalic and platycephalic component.

19.
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
20.
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.

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