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1.
World Neurosurg ; 188: e213-e222, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38768749

ABSTRACT

BACKGROUND: The SpineST-01 system is an image-guided vertebrae cannulation training system. During task execution, the computer calculates performance-based metrics displaying different visual perspectives (lateral view, axial view, anteroposterior view) with the position of the instrument inside the vertebra. Finally, a report with the metrics is generated as performance feedback. METHODS: A training box holds a 3D printed spine section. The computer works with 2 orthogonally disposed cameras, tracking passive markers placed on the instrument. Eight metrics were proposed to evaluate the execution of the surgical task. A preliminary study with 25 participants divided into 3 groups (12 novices, 10 intermediates, and 3 expert) was conducted to determine the feasibility of the system and to evaluate and assess the performance differences of each group using Kruskal-Wallis analysis and Mann-Whitney U analysis. In both analyses, a P value ≤ 0.05 was considered statistically significant. RESULTS: When comparing experts versus novices and all 3 groups, statistical analysis showed significant differences in 6 of the 8 metrics: axial angle error (°), lateral angle error (°), average speed (mm/second), progress between shots (mm), Time (seconds), and shots. The metrics that did not show any statistically significant difference were time between shots (seconds), and speed between shots (mm/second). Also, the average result comparison placed the experts as the best performance group. CONCLUSIONS: Initial testing of the SpineST-01 demonstrated potential for the system to practice image-guided cannulation tasks on lumbar vertebrae. Results showed objective differences between experts, intermediates, and novices in the proposed metrics, making this system a feasible option for developing basic navigation system skills without the risk of radiation exposure and objectively evaluating task performance.


Subject(s)
Clinical Competence , Surgery, Computer-Assisted , Humans , Surgery, Computer-Assisted/methods , Proof of Concept Study , Pedicle Screws , Computer Simulation
2.
Childs Nerv Syst ; 39(12): 3509-3514, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37266682

ABSTRACT

PURPOSE: This study aims to determine the utility of selective partial neurectomy of the musculocutaneous nerve (MCN) in pediatric patients with bilateral spastic elbow. METHODS: A prospective, cross-sectional, case series study was performed in nine pediatric patients (four females and five males) with bilateral spastic elbow, all with a 11.4-year-old average age, where 18 selective partial neurectomies of the MCN were carried out. They were evaluated with goniometry of both spastic elbows at resting position and active amplitude, and staging spasticity employing the Modified Ashworth Scale (MAS) in the preoperative and postoperative period. The results are reported 1 year after surgery. RESULTS: The etiology of the spasticity was secondary to cerebral palsy in eight patients (88.8%) and in one patient (11.11%) secondary to traumatic brain injury. A clinical improvement was observed in goniometry comparing the preoperative and postoperative resting position, a mean preoperative of 44.38 degrees (SD ± 7.61) versus 98.05 degrees (SD ± 24.44), respectively, and preoperative active amplitude a mean of 86.55 degrees (SD ± 15.97) versus the mean postoperative of 47.33 (SD ± 17.86). A relevant decrease on the MAS after surgical intervention was observed, resulting from an average preoperative state according to MAS of 3.78 (SD ± 0.42) to a postoperative state according to MAS of 1.44 (SD ± 0.51), these changes being statistically significant (p ≤ 0.001). No postoperative complications were observed. CONCLUSIONS: Selective partial neurectomy of the MCN has shown good results in patients with bilateral spastic elbow in whom antispastic drugs and physical therapy have failed, and has prove permanent effects.


Subject(s)
Elbow , Musculocutaneous Nerve , Male , Female , Humans , Child , Elbow/surgery , Musculocutaneous Nerve/surgery , Muscle Spasticity/etiology , Muscle Spasticity/surgery , Prospective Studies , Cross-Sectional Studies , Denervation/adverse effects
3.
Int J Mol Sci ; 23(20)2022 Oct 21.
Article in English | MEDLINE | ID: mdl-36293551

ABSTRACT

Central nervous system tumors are the most common solid neoplasia during childhood and represent one of the leading causes of cancer-related mortality. Tumors arising from astrocytic cells (astrocytomas) are the most frequently diagnosed, and according to their histological and pathological characteristics, they are classified into four categories. However, an additional layer of molecular classification considering the DNA sequence of the tumorigenesis-associated genes IDH1/2 and H3F3A has recently been incorporated into the classification guidelines. Although mutations in H3F3A are found exclusively in a subtype of grade IV pediatric astrocytoma, mutations in IDH1/2 genes are very rare in children under 14 years of age. The transcriptomic profiles of astrocytoma in adults and children have been extensively studied. However, there is scarce information on these profiles in pediatric populations considering the status of tumorigenesis-associated genes. Therefore, here we report the transcriptomic landscape of the four grades of pediatric astrocytoma by RNA sequencing. We found several well-documented biological functions associated with the misregulated genes in the four grades of astrocytoma, as well as additional biological pathways. Among the four grades of astrocytoma, we found shared misregulated genes that could have implications in tumorigenesis. Finally, we identified a transcriptional signature for almost all grades of astrocytoma that could be used as a transcription-based identification method.


Subject(s)
Astrocytoma , Brain Neoplasms , Adult , Child , Humans , Transcriptome , Brain Neoplasms/pathology , Astrocytoma/pathology , Mutation , Carcinogenesis
4.
J Clin Neurosci ; 99: 73-77, 2022 May.
Article in English | MEDLINE | ID: mdl-35255360

ABSTRACT

Scaphocephaly (SC) is defined as an elongation of the anteroposterior axis of the skull resulting from the abnormal fusion of the sagittal suture. This study describes the "Peau d'ours" technique and results for correcting SC. We conducted a consecutive and retrospective analysis of patients treated from 2011 to 2016. We evaluated the gender, age, and surgical outcomes. A total of 53 patients were enrolled with a mean age of 19 months old. The advantages of this technique are healthy coronal and lambdoid suture preservation and symmetrical parietal bone flap opening. This technique is safe and simple to reproduce, allowing good surgical outcomes with a low incidence of secondary craniosynostosis. This technique is ideal for patients older than six months old.


Subject(s)
Craniosynostoses , Cranial Sutures/surgery , Craniosynostoses/surgery , Humans , Infant , Mexico , Retrospective Studies , Skull/surgery
5.
World Neurosurg ; 151: 182-189, 2021 07.
Article in English | MEDLINE | ID: mdl-34033950

ABSTRACT

OBJECTIVE: Metric-based surgical training can be used to quantify the level and progression of neurosurgical performance to optimize and monitor training progress. Here we applied innovative metrics to a physical neurosurgery trainer to explore whether these metrics differentiate between different levels of experience across different tasks. METHODS: Twenty-four participants (9 experts, 15 novices) performed 4 tasks (dissection, spatial adaptation, depth adaptation, and the A-B-A task) using the PsT1 training system. Four performance metrics (collision, precision, dissected area, and time) and 6 kinematic metrics (dispersion, path length, depth perception, velocity, acceleration, and motion smoothness) were collected. RESULTS: For all tasks, the execution time (t) of the experts was significantly lower than that of novices (P < 0.05). The experts performed significantly better in all but 2 of the other metrics, dispersion and sectional area, corresponding to the A-B-A task and dissection task, respectively, for which they showed a nonsignificant trend towards better performance (P = 0.052 and P = 0.076, respectively). CONCLUSIONS: It is possible to differentiate between the skill levels of novices and experts according to parameters derived from the PsT1 platform, paving the way for the quantitative assessment of training progress using this system. During the current coronavirus disease 2019 pandemic, neurosurgical simulators that gather surgical performance metrics offer a solution to the educational needs of residents.


Subject(s)
Clinical Competence , Neuroendoscopy/education , Neuroendoscopy/methods , Psychomotor Performance/physiology , Simulation Training/methods , Clinical Competence/standards , Humans , Neuroendoscopy/standards , Simulation Training/standards
6.
Pediatr Surg Int ; 37(4): 419-424, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33427923

ABSTRACT

PURPOSE: Tethered cord (TC) occurs in 36% of patients with anorectal malformations (ARMs), for whom the benefit of detethering surgery remains unclear regarding bowel and/or bladder function. This study aimed to examine whether cord detethering could improve fecal and urinary incontinence in these patients. METHODS: This was a retrospective study of TC patients (>3 years old) with fecal incontinence and ARMs, who underwent detethering surgery between 2016 and 2020 and were followed up for at least 6 months. RESULTS: Of the 27 included patients, 55% had sacral ratios between 0.4 and 0.7, and in 37% it was < 0.4; the remaining 8% was over 0.7; 52% suffered from colonic hypermotility. After detethering surgery, partial fecal continence was achieved in five patients (18%); total fecal continence, in ten patients (37%); 12 (44%) remained fecally incontinent. Partial urinary continence was obtained in four cases (14%), and the number of patients with total urinary continence rose from 7 (25%) to 15 (55%). Lower extremity symptoms were also improved in 72% of the cases. Patients with colonic hypomotility were found to have a better functional outcome than those with colonic hypermotility (69% vs. 43%, respectively). CONCLUSION: Our study demonstrated that detethering surgery led to remarkably improved bowel and bladder control in ARM patients with fecal incontinence, which, surprisingly, was not associated with sacral ratio.


Subject(s)
Anorectal Malformations/complications , Anorectal Malformations/surgery , Fecal Incontinence/complications , Adolescent , Child , Female , Humans , Male , Neural Tube Defects/complications , Retrospective Studies , Sacrum , Treatment Outcome , Urinary Incontinence , Young Adult
7.
Bol. méd. Hosp. Infant. Méx ; 77(6): 303-311, Nov.-Dec. 2020. tab, graf
Article in English | LILACS | ID: biblio-1142480

ABSTRACT

Abstract Background: Astrocytomas are cancer tumors of the central nervous system and represent the most common type of solid tumors during human childhood. In 2016, the World Health Organization established a molecular classification system to regroup tumor entities to achieve a more accurate diagnosis and a better clinical decision-making and selection of treatment in patients with these types of tumors. Methods: We evaluated a genotyping assay for rapid and cost-effective mutation detection in astrocytomas using TaqMan probes in an asymmetric polymerase chain reaction (PCR) assay. Results: Four diffuse astrocytomas (Grade II), three anaplastic astrocytomas (Grade III), and four glioblastomas (Grade IV) were sequenced, and all of them displayed the wild-type (WT) sequence. We tried to set up this melting analysis for the genotyping of pediatric astrocytomas by identifying the specific melting temperatures of the TaqMan probes due to the presence of the WT sequences in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) and H3.3 histone A genes (H3F3A). We used an IDH1-TaqMan probe to identify the WT status of IDH1 in two different WT deoxyribonucleic acid (DNA) templates (pilocytic and diffuse astrocytoma) and obtained four melting temperature values ranged from 65.6 to 92.2°C. Furthermore, only four out of 29 reactions displayed amplification of the DNA template. Sanger sequencing was faster and more reliable to detect the gene status in all the sequenced samples. Conclusions: We conclude that conventional Sanger sequencing remains the gold standard for the genotyping of pediatric astrocytomas.


Resumen Introducción: Los astrocitomas son un tipo de cáncer que afecta al sistema nervioso central y representan el tumor sólido más común durante la infancia. En el año 2016, la Organización Mundial de la Salud estableció un sistema de clasificación molecular para reagrupar tumores con identidades genéticas similares y lograr un diagnóstico más preciso, lo que lleva a tomar las decisiones clínicas idóneas al elegir el tratamiento de pacientes con este tipo de tumores. Métodos: Se evaluó un protocolo que involucra el uso de sondas TaqMan en un ensayo de reacción en cadena de la polimerasa asimétrica para la detección de mutaciones en astrocitomas. Se secuenciaron cuatro astrocitomas difusos (Grado II), tres astrocitomas anaplásicos (Grado III) y cuatro glioblastomas (Grado IV). Se intentó establecer las condiciones del análisis para la genotipificación de los astrocitomas pediátricos mediante la identificación de las temperaturas de disociación específicas de las sondas TaqMan producidas por la prescencia de las secuancias WT en los genes isocitrato deshidrogenasa 1 y 2 (IDH1, IDH2) y H3.3 histona A (H3F3A). Resultados: Los astrocitomas mostraron la secuencia wild type (WT) (silvestre) de los genes. Se utilizó una sonda TaqMan IDH1 para identificar el estado de este gen en dos templados WT de DNA (astrocitoma pilocítico y difuso) y se obtuvieron cuatro valores de temperatura de disociación (65.6-92.2 °C). Solo cuatro de las 29 reacciones mostraron amplificación de DNA. La secuenciación de Sanger fue más rápida y confiable para detectar el estado de los genes en todas las muestras. Conclusiones: La secuenciación de Sanger sigue siendo la técnica más práctica para la genotipificación de astrocitomas pediátricos.


Subject(s)
Child , Humans , Astrocytoma , Brain Neoplasms , Polymerase Chain Reaction , Sequence Analysis, DNA , Genotyping Techniques , Astrocytoma/diagnosis , Astrocytoma/genetics , Brain Neoplasms/diagnosis , Histones , DNA Probes , Sequence Analysis, DNA/methods , Transition Temperature , Glioma , Isocitrate Dehydrogenase , Mutation
8.
Bol Med Hosp Infant Mex ; 77(6): 303-311, 2020.
Article in English | MEDLINE | ID: mdl-33186344

ABSTRACT

Background: Astrocytomas are cancer tumors of the central nervous system and represent the most common type of solid tumors during human childhood. In 2016, the World Health Organization established a molecular classification system to regroup tumor entities to achieve a more accurate diagnosis and a better clinical decision-making and selection of treatment in patients with these types of tumors. Methods: We evaluated a genotyping assay for rapid and cost-effective mutation detection in astrocytomas using TaqMan probes in an asymmetric polymerase chain reaction (PCR) assay. Results: Four diffuse astrocytomas (Grade II), three anaplastic astrocytomas (Grade III), and four glioblastomas (Grade IV) were sequenced, and all of them displayed the wild-type (WT) sequence. We tried to set up this melting analysis for the genotyping of pediatric astrocytomas by identifying the specific melting temperatures of the TaqMan probes due to the presence of the WT sequences in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) and H3.3 histone A genes (H3F3A). We used an IDH1-TaqMan probe to identify the WT status of IDH1 in two different WT deoxyribonucleic acid (DNA) templates (pilocytic and diffuse astrocytoma) and obtained four melting temperature values ranged from 65.6 to 92.2°C. Furthermore, only four out of 29 reactions displayed amplification of the DNA template. Sanger sequencing was faster and more reliable to detect the gene status in all the sequenced samples. Conclusions: We conclude that conventional Sanger sequencing remains the gold standard for the genotyping of pediatric astrocytomas.


Introducción: Los astrocitomas son un tipo de cáncer que afecta al sistema nervioso central y representan el tumor sólido más común durante la infancia. En el año 2016, la Organización Mundial de la Salud estableció un sistema de clasificación molecular para reagrupar tumores con identidades genéticas similares y lograr un diagnóstico más preciso, lo que lleva a tomar las decisiones clínicas idóneas al elegir el tratamiento de pacientes con este tipo de tumores. Métodos: Se evaluó un protocolo que involucra el uso de sondas TaqMan en un ensayo de reacción en cadena de la polimerasa asimétrica para la detección de mutaciones en astrocitomas. Se secuenciaron cuatro astrocitomas difusos (Grado II), tres astrocitomas anaplásicos (Grado III) y cuatro glioblastomas (Grado IV). Se intentó establecer las condiciones del análisis para la genotipificación de los astrocitomas pediátricos mediante la identificación de las temperaturas de disociación específicas de las sondas TaqMan producidas por la prescencia de las secuancias WT en los genes isocitrato deshidrogenasa 1 y 2 (IDH1, IDH2) y H3.3 histona A (H3F3A). Resultados: Los astrocitomas mostraron la secuencia wild type (WT) (silvestre) de los genes. Se utilizó una sonda TaqMan IDH1 para identificar el estado de este gen en dos templados WT de DNA (astrocitoma pilocítico y difuso) y se obtuvieron cuatro valores de temperatura de disociación (65.6-92.2 °C). Solo cuatro de las 29 reacciones mostraron amplificación de DNA. La secuenciación de Sanger fue más rápida y confiable para detectar el estado de los genes en todas las muestras. Conclusiones: La secuenciación de Sanger sigue siendo la técnica más práctica para la genotipificación de astrocitomas pediátricos.


Subject(s)
Astrocytoma , Brain Neoplasms , Genotyping Techniques , Polymerase Chain Reaction , Sequence Analysis, DNA , Astrocytoma/diagnosis , Astrocytoma/genetics , Brain Neoplasms/diagnosis , Child , DNA Probes , Glioma , Histones , Humans , Isocitrate Dehydrogenase , Mutation , Sequence Analysis, DNA/methods , Transition Temperature
9.
Pathol Oncol Res ; 26(4): 2693-2701, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32661835

ABSTRACT

There is no evidence that prolonged pre diagnostic symptomatic intervals (PSI) increases the risk of death in pediatric brain tumors. When investigating the role of time previous research had not controlled for confounding variables or measured the pretreatment interval (PTI). We use the term global delay interval (GDI) to describe the sum of PSI and PTI. The aim of this research was to evaluate whether there was a decrease in the probability of survival in children with brain tumors due to a prolonged PSI, PTI and GDI, using a multivariate survival analysis. We retrospective review 127 clinical records labeled with the diagnosis of CNS tumors attended at a specialized pediatric center in Mexico City from January 2008 to December 2012. Patients with PSI and GDI diagnosed between 3 and 6 months showed statistical lower probability of surviving that those with intervals <3 months even when adjusting for age, sex, localization and tumor grade. When stratified for the place of residency and adjusted for sex, age, localization, grade of tumor, type of surgery and coadjuvant therapy, a GDI between 3 and 6 months showed to be a risk factor for the overall survival of brain tumors compared with an interval < 3 months. When analyzing the interaction, high grade tumors are at more risk of dying when GDI was between 3 and 6 months compared to <3 months. Prolonged PSI and GDI showed to be a potential prognostic factor for survival in CNS tumors, especially in high grade tumors. Future prospective research should measure the PSI, PTI and GDI and adjust for covariates in order to properly infer the effect of time in pediatric brain tumors.


Subject(s)
Brain Neoplasms/mortality , Delayed Diagnosis/statistics & numerical data , Brain Neoplasms/pathology , Brain Neoplasms/therapy , Child , Child, Preschool , Combined Modality Therapy , Female , Follow-Up Studies , Humans , Male , Prognosis , Retrospective Studies , Risk Factors , Survival Rate , Time Factors
10.
Childs Nerv Syst ; 36(6): 1307-1310, 2020 06.
Article in English | MEDLINE | ID: mdl-31912225

ABSTRACT

The authors present a case of functional improvement of diaphragmatic paralysis in high spinal cord injury, performing a neurotization of the phrenic nerve with accessory spinal nerve hemisection. A C1-C2 injury of the spinal cord was diagnosed in a 12-year-old male, secondary to resection of a brainstem glioma. The patient did not have diaphragmatic motility at the moment that the mechanical ventilation was removed; however, he presented apnea. The patient underwent neurotization of the right phrenic nerve with the right spinal accessory nerve, 5 months after the injury and 6 months after nerve transfer; he had complete mobilization of the right hemidiaphragm, nevertheless persisted with paralysis of the left hemidiaphragm. This achievement reduced the use of mechanical ventilation during the day.


Subject(s)
Brain Neoplasms , Nerve Transfer , Spinal Cord Injuries , Accessory Nerve , Child , Diaphragm/diagnostic imaging , Diaphragm/surgery , Humans , Male , Phrenic Nerve/surgery , Spinal Cord , Spinal Cord Injuries/complications , Spinal Cord Injuries/surgery
11.
Childs Nerv Syst ; 34(8): 1593-1597, 2018 08.
Article in English | MEDLINE | ID: mdl-29557511

ABSTRACT

INTRODUCTION: Focal hydrocephalus including trapped temporal horn (TTH), isolated lateral and fourth ventricles, is caused by obstruction and/or adhesion related to various etiologies. With the advent of the neuroendoscope, endoscopic procedures have become an alternative in selected cases. CASE REPORT: A 2-year-old male from a rural town in México was referred to our institution because of multiple supra- and infra-tentorial abscesses and hydrocephalus. The patient had progressive deterioration and developed bilateral trapped temporal horn related to multi-septated hydrocephalus, so we performed an endoscopic ventricular-cistern-ventriculostomy through a single right temporal burr hole. POSTOPERATIVE COURSE: Bilateral TTH and multi-septated hydrocephalus were effectively treated with a single external ventricular drainage (EVD) catheter, from the right temporal horn to the left temporal horn through the interpeduncular cistern; after clamping the EVD for 3 days with no evidence of hydrocephalus, the EVD was removed. The size of the ventricles remained stable afterwards, and no clinical or radiological evidence of hydrocephalus was observed after 3 months of follow-up. DISCUSSION: Endoscopic ventriculocisternostomy is effective in selected cases of TTH. We know that dilatation of the temporal horn widens the window between the anterior choroidal artery and optic tract superiorly, and the posterior communicating and CN III inferiorly, making the described procedure feasible, even in the approach to the contralateral side. Even though this is a rare condition, we believe it is a safe and effective option to eliminate multiple shunts and/or to reduce the number of catheters needed to treat bilateral THH related to multi-septated hydrocephalus.


Subject(s)
Cerebral Ventricles/diagnostic imaging , Cisterna Magna/diagnostic imaging , Mycoses/diagnostic imaging , Neuroendoscopy/methods , Temporal Lobe/diagnostic imaging , Ventriculostomy/methods , Antifungal Agents/therapeutic use , Cerebral Ventricles/surgery , Child, Preschool , Cisterna Magna/drug effects , Cisterna Magna/surgery , Humans , Hydrocephalus/diagnostic imaging , Hydrocephalus/drug therapy , Male , Mycoses/drug therapy , Mycoses/surgery , Temporal Lobe/surgery , Treatment Outcome
12.
World Neurosurg ; 83(6): 1074-9, 2015 Jun.
Article in English | MEDLINE | ID: mdl-25527875

ABSTRACT

BACKGROUND: Well-developed psychomotor skills are important for competence in minimally invasive surgery. Neuroendoscopy is no exception, and adaptation to different visual perspectives and careful handling of the surgical instruments are mandatory. Few training systems, however, focus on developing psychomotor skills for neuroendoscopy. Here, we introduce a new training system called PsT1 that provides visual feedback via the use of simple optics that emulate the endoscope at 0° and 30°. Time and error metrics are generated automatically with integrated software to ensure objective assessment. METHODS: Neuroendoscopic optics were emulated with a low-cost, commercially available universal serial bus 2.0 camera and a light-emitting diode light source. Visual feedback of 30° was obtained by displacing the optical axis of the universal serial bus camera by 30°, and metrics (time, precision, and errors) were generated automatically by the software. Three evaluation modules were developed (spatial adaptation, depth adaptation, and dissection), and 35 expert and nonexpert neurosurgeons performed an initial evaluation of the system. RESULTS: A total of 81% and 90% of surgeons agreed that the visuals were satisfactory and movement and control were accurately replicated, respectively. The advantages and disadvantages of the system were compared. CONCLUSIONS: Here, we present a novel, low-cost, and easy-to-implement training system for developing basic neuroendoscopic psychomotor skills. The use of objective metrics, surgical instruments, and emulation of the neuroendoscope at 0° and 30° are competitive advantages of the current system.


Subject(s)
Clinical Competence , Computer Simulation , Motor Skills , Neuroendoscopy/education , Adult , Computer Simulation/economics , Cost-Benefit Analysis , Depth Perception , Female , Humans , Laparoscopy/education , Male , Neuroendoscopy/standards , Optical Phenomena , Psychomotor Performance , Software , Space Perception
13.
Childs Nerv Syst ; 31(1): 141-6, 2015 Jan.
Article in English | MEDLINE | ID: mdl-25064129

ABSTRACT

PURPOSE: A 10-month-old girl with a Brachmann-Cornelia de Lange syndrome and a choroid plexus papilloma of the brain was studied at the Hospital Infantil de México Federico Gómez (HIMFG) in Mexico City. METHODS AND RESULTS: Presumptive papilloma of the third ventricle was evidenced on CT and MR images and removed. Pathological analysis confirmed its origin. A posterior radiosurgery was required due to a tumor relapse. Karyotypes (GTG bands) of the patient and her parents undertaken at HIMFG were normal. Array comparative genomic hybridization (array CGH) analyses of blood DNA of the patient and her parents carried out at BlueGnome's Laboratory in Cambridge, UK, set in evidence amplification of genes SPNS2, GGT6, SMTNL2, PELP1, MYBBP1A, and ALOX15 in chromosome 17p of the patient. Since MYBBP1A is a proto-oncogene and ALOX15 participates in the development of cancer and metastases of tumors, further fluorescent in situ hybridization (FISH) analyses of these two genes were implemented at HIMFG. Amplification of the two genes was found in the tumor of the case under study but not in an unrelated papilloma of the choroid plexus. DISCUSSION: Further analyses of the association of choroid plexus papillomas with disorders of psycho-neural development and its relationship to molecular genetic modifications at chromosome 17p are now under way at HIMFG.


Subject(s)
De Lange Syndrome/complications , Papilloma, Choroid Plexus/complications , Arachidonate 15-Lipoxygenase/genetics , Comparative Genomic Hybridization , DNA-Binding Proteins , De Lange Syndrome/genetics , De Lange Syndrome/surgery , Female , Humans , Infant , Magnetic Resonance Imaging , Nuclear Proteins/genetics , Nucleocytoplasmic Transport Proteins/genetics , Papilloma, Choroid Plexus/genetics , Papilloma, Choroid Plexus/surgery , Proto-Oncogene Mas , RNA-Binding Proteins , Transcription Factors
14.
Childs Nerv Syst ; 25(5): 551-7, 2009 May.
Article in English | MEDLINE | ID: mdl-19148652

ABSTRACT

OBJECTIVE: To evaluate clinical evolution of pediatric patients diagnosed with glioblastoma multiforme (GBM) at Hospital Infantil de México Federico Gómez. METHODS: Cases of patients treated from January to May, 2007, were included in this study. Variables analyzed were: age, diagnosis, size of tumor, histopathological description, degree of resection, time of stay in hospital, complications and outcome using Pearson's chi-squared test and logistic regression. CONCLUSION: Sixteen patients were identified. Mean age of presentation was 8.8. An increased frequency of complications was observed in younger patients and longer survival rates in patients with greater resections; main mode of presentation was directly related to intracranial hypertension; size of tumor was not related to evolution or outcome. Modern histological classifications especially designed for children are deemed necessary to accurately diagnose GBM.


Subject(s)
Brain Neoplasms/complications , Brain Neoplasms/diagnosis , Glioblastoma/complications , Glioblastoma/diagnosis , Intracranial Hypertension/etiology , Age Factors , Brain Neoplasms/pathology , Brain Neoplasms/physiopathology , Chi-Square Distribution , Child , Female , Glioblastoma/pathology , Glioblastoma/physiopathology , Hospitals, Pediatric , Humans , Intracranial Hypertension/physiopathology , Logistic Models , Male , Mexico , Multivariate Analysis , Prognosis , Risk Factors , Survival Rate
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