Endoscopic third ventriculostomy in obstructive infantile hydrocephalus: Remarks about the so-called 'unsuccessful cases'

Background: The failure rate following endoscopic third ventriculostomy (ETV) in infants younger than 2 years of age has been reported to be higher compared with that of older children, and it is unclear whether ETV might be superior to shunt placement in this age group. Methods: Between 2003 and 2009, 23 patients younger than 6 months and without a previous history of shunting underwent ETV in our institution. A review of the literature was performed on the basis of publications presenting detailed data on age and etiology in every single patient. Results: In our own patients, total success rate was 39.1%. In the successful cases, median age was 140 days, whereas in the unsuccessful cases it was 47 days. The difference between the two groups was statistically significant (p = 0.01). The median ages of both successful and unsuccessful groups corresponded to data gained from an analysis of the literature (p = 0.04). At a median follow-up of 47 months, 2 out of 14 patients shunted after a failed ETV were revised for ventriculoperitoneal shunt malfunction. Conclusion: The impact of age on ETV failure in infants is clear and becomes crucial during the first 2 months of life, even when excluding etiological factors. Nevertheless, age cannot be considered the only parameter of the decision-making process, especially in these very young patients. Probably, the definition of 'unsuccessful ETV' should be reevaluated in light of decreased risk of shunt malfunction observed after a failed ETV. Copyright © 2011 S. Karger AG, Basel

A Case Matched Gender Comparison Transcriptomic Screen Identifies eIF4E and eIF5 as Potential Prognostic and Tractable Biomarkers in Male Breast Cancer

Purpose: Breast cancer (BC) affects both genders, but is understudied in men. Although still rare, male BC is being diagnosed more frequently. Treatments are wholly informed by clinical studies conducted in women, based on assumptions that underlying biology is similar. Experimental design: A transcriptomic investigation of male and female BC was performed, confirming transcriptomic data in silico. Biomarkers were immunohistochemically assessed in 697 MBCs (n=477, training; n=220, validation set) and quantified in pre- and post-treatment samples from a male BC patient receiving Everolimus and PI3K/mTOR inhibitor. Results: Gender-specific gene expression patterns were identified. eIF transcripts were up-regulated in MBC. eIF4E and eIF5 were negatively prognostic for overall survival alone (Log rank; p=0.013; HR=1.77, 1.12-2.8 and p=0.035; HR=1.68, 1.03-2.74, respectively), or when co-expressed (p=0.01; HR=2.66, 1.26-5.63), confirmed in the validation set. This remained upon multivariate Cox regression analysis (eIF4E p=0.016; HR 2.38 (1.18-4.8), eIF5 p=0.022; HR 2.55 (1.14-5.7); co-expression p=0.001; HR=7.04 (2.22-22.26)). Marked reduction in eIF4E and eIF5 expression was seen post BEZ235/Everolimus, with extended survival. Conclusions: Translational initiation pathway inhibition could be of clinical utility in male BC patients overexpressing eIF4E and eIF5. With mTOR inhibitors which target this pathway now in the clinic, these biomarkers may represent new targets for therapeutic intervention, although further independent validation is required

Per-operative investigation with direct electrical stimulation of cortical and cerebellar sensorimotor representations in humans

Durant les dernières décennies, le système moteur a été largement étudié. Pourtant, bien des zones d'incertitudes persistent concernant d'une part la nature des circuits neuronaux de haut niveau impliqués dans l'émergence des sentiments d'intention ou de conscience motrice et d'autre part l'organisation des structures cérébrales de bas-niveau impliquées dans l'expression de ces sentiments. Il a été suggéré que le cortex pariétal et l'aire motrice supplémentaire pourraient jouer un rôle dans la génération des intentions motrices, alors que le cortex prémoteur pourrait plutôt sous-tendre la conscience du geste. Cela étant, les processus exacts implémentés dans chacune de ces régions, la façon dont elles interagissent fonctionnellement et la nature des signaux qu'elles échangent avec les structures sensorimotrices considérées de bas-niveau demeurent méconnus. Il est établi que ces structures bas-niveau, dont le cortex moteur primaire et le cervelet, contiennent des cartes sensorimotrices organisées de manière topographique. Cependant, l'organisation fine de cette topographie et la nature des interactions entre les différentes cartes restent à définir. Dans ce travail de thèse, j'ai utilisé la stimulation électrique directe chez des patients opérés de tumeurs et malformations cérébrales pour explorer la manière dont les multiples représentations motrices sont organisées et pour identifier les régions responsables de l'émergence des sentiments d'intention et de conscience motrice. J'ai alors pu montrer, en particulier, l'existence de cartes motrices multiples au sein des cortex moteur primaire et cérébelleux. Par ailleurs, j'ai pu identifier le rôle critique du cortex pariétal pour l'émergence du sentiment d'intention motrice et -sur la base de processus prédictifs- de la conscience d'agir. Par rapport à ce point, j'ai aussi pu mettre en évidence que le cortex prémoteur était impliqué, à travers un contrôle continu des prédictions pariétales, dans l'émergence d'une conscience d'agir non plus inférée mais véritableDuring the last five decades, the motor system has been widely studied. Yet, little is known about the neural substrate of high-level aspects of movement such as intention and awareness and how these functions are related to low-level movement execution processes. It has been suggested that the parietal cortex and supplementary motor area are involved in generating motor intentions, while premotor cortex may play a role in the emergence of motor awareness. However, the precise mechanisms implemented within each of these areas, the way they interact functionally and the nature of the signals conveyed to primary sensory and motor regions is far from being understood. Furthermore, intention and awareness of movement are also influenced by peripheral information coming from the skin, muscles and joints, and this information must be integrated to produce smooth, accurate and coordinated motor actions. Cortical and subcortical structures such as the primary motor cortex and the cerebellum are known to contain motor maps thought to contribute to motor control, learning and plasticity, but the intrinsic organization of these maps and the nature of their reciprocal relations are still unknown. In this thesis I used Direct Electrical Stimulation in patients undergoing brain surgeries to investigate how multiple motor representations are organized and identify the regions responsible for the emergence of conscious motor intention and awareness. I showed, in particular, the existence of multiple efferent maps within the cerebellum and the precentral gyrus. Furthermore, I identified the critical role of the parietal cortex for the emergence of conscious intention and -based on predictive processes- motor awareness. I also provided evidence that the premotor cortex is involved in "checking" parietal estimations, thus leading to a sense of "veridical awareness

Complications intracrâniennes des sinusites chez l'enfant (abcès et empyèmes)

LYON1-BU Santé (693882101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Supracerebellar infratentorial approach to the pineal region

5 page(s

Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings.

International audiencePURPOSE: The 6p25 deletion syndrome is a rare disorder characterized by Dandy-Walker malformation, congenital heart defects, developmental delay, dysmorphic facial features, and malformations of the anterior segment of the eye with a risk for glaucoma. Here we report a child harboring a cryptic de novo 6p25 deletion, bilateral optic disc coloboma and characteristic anterior segment anomalies. We review reported ophthalmic findings in patients with this syndrome. MATERIALS AND METHODS: Retrospective case review of a 4-day-old male with Dandy-Walker malformation and cardiac defects who was referred with a suspected diagnosis of iris coloboma. RESULTS: The ophthalmic examination showed bilateral corectopia associated with posterior embryotoxon. Fundus examination revealed bilateral optic disc excavation, which was diagnosed as colobomatous because of its configuration and stability over time. Because of the association of posterior embryotoxon with Dandy-Walker malformation, a terminal 6p deletion syndrome was clinically suspected. Array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) studies revealed a 3.2 Mb deletion at 6p25.2p25.3 including the FOXC1 gene. Neither unaffected parent carried this deletion. CONCLUSIONS: Optic disc colobomas may be found in patients carrying a 6p25 deletion. This has the potential to confound assessment of affected children for glaucoma and intracranial hypertension

Mapping motor representations in the human cerebellum.

International audienceThe cerebellum is a major motor structure. However, in humans, its efferent topographical organization remains controversial and indirectly inferred from neuroimaging and animal studies. Even central questions such as 'Can we evoke limb movements by stimulating the cerebellar cortex?' have no clear answer. To address this issue, we electrically stimulated the posterior cerebellum of 20 human patients undergoing surgery for tumours located outside this structure (e.g. pineal gland, quadrigeminal plate). Stimulation, delivered at a 60-Hz frequency for 2 s, evoked focal (single-joint) ipsilateral movements. Different regions were associated with the production of head (vermal lobule VI), face/mouth (hemispheric lobule VI) and lower-limb (hemispheric lobules VIIb-IX) responses. Upper-limb representations were more widely distributed. They intermingled with face/mouth representations in the superior posterior cerebellum (hemispheric lobule VI) and lower-limb representations in the inferior posterior cerebellum (hemispheric lobules VIIb-IX). No intra- or inter-limb somatotopy was found in these areas. Functionally, upper-limb (face/mouth movements) and upper limb-lower limb postural coordinations are major elements of our motor repertoire. Representation of these pairs of segments in common regions might favour the production of integrated motor behaviours. The intermediate region of the posterior cerebellum (hemispheric lobule VII and vermal lobules VII-VIII) was mostly silent. Latency results in conjunction with previous electrophysiological evidence in animals suggest that electrically evoked motor responses were not mediated by a cortical route but rather by brainstem structures. The potential role of this descending efferent pathway for fine motor control is discussed

Risk factors for intraoperative allogeneic blood transfusion during craniotomy for brain tumor removal in children

BACKGROUND: Several clinical and surgical factors can influence the occurrence of allogeneic blood transfusion (ABT) during oncologic neurosurgery. OBJECTIVES: To identify the potential predictive factors of ABT during craniotomy for the removal of brain tumors in children and the potential impact of intraoperative ABT on early postoperative outcome. METHODS: A retrospective study was performed in all pediatric patients younger than 18 years who underwent craniotomy for brain tumor removal from December 2009 to December 2012 in our institution. Pre-, intra-, and postoperative data were collected from medical and stored electronic anesthesia records. The predictors of intraoperative ABT were determined using multivariate logistic regression.CONTEXTE : Plusieurs facteurs cliniques et chirurgicaux peuvent influencer la présence de transfusion sanguine allogeneic (ABT) pendant la neurochirurgie oncologique. OBJECTIFS : Identifier les facteurs prédictifs potentiels d'ABT pendant craniotomy pour le déplacement de tumeurs cérébrales chez les enfants

Pediatric Low-Grade Glioma Surgery with Sodium Fluorescein: Efficient Localization for Removal and Association with Intraoperative Pathological Sampling

Low-grade gliomas are among the most common CNS lesions in pediatrics and surgery is often the first-line treatment. Intraoperative tools have been developed to maximize the results of surgery, and in particular dyes such as sodium fluorescein (SF) have been investigated in high-grade adult lesions. The use of SF in pediatric low-grade gliomas is still unclear. We retrospectively reviewed 22 pediatric CNS low-grade gliomas operated on with SF from September 2021 to October 2022. A total of 86% of lesions showed SF uptake, which was helpful intraoperatively (confirmation of initial localization of the tumor, or identification of tumor remnants) in 74% of them. The intraoperative fluorescence seems associated with gadolinium enhancement at the preoperative MRI. Interestingly, the extemporaneous pathological sampling (EPS) was informative in every case showing SF uptake, whereas in cases without SF uptake, the EPS was non-informative, although the tissue was later confirmed as pathological. These findings highlight the interest of SF for perioperative diagnosis of tumor tissue and may suggest in which cases the differentiation of tumor–healthy tissue could be especially blurred, posing difficulties for the pathologist