A5088869222- Glioma Diagnosis and Treatment
- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neonatal and fetal brain pathology
- Vascular Malformations Diagnosis and Treatment
- Craniofacial Disorders and Treatments
- Cancer Genomics and Diagnostics
- Cancer-related molecular mechanisms research
- Cleft Lip and Palate Research
- Neurological disorders and treatments
- Chromatin Remodeling and Cancer
- Genetic factors in colorectal cancer
- Intracranial Aneurysms: Treatment and Complications
- Genomics and Rare Diseases
- Cancer Immunotherapy and Biomarkers
- Epigenetics and DNA Methylation
- Child Abuse and Related Trauma
- Advanced Radiotherapy Techniques
- Neurological and metabolic disorders
- Tuberous Sclerosis Complex Research
- Infectious Encephalopathies and Encephalitis
- Single-cell and spatial transcriptomics
- Vascular Anomalies and Treatments
- Anatomy and Medical Technology
- Genetic and Kidney Cyst Diseases
McGill University
2002-2024
McGill University Health Centre
2007-2023
Montreal Children's Hospital
2007-2022
Hospital for Sick Children
2016
SickKids Foundation
2016
Montreal Neurological Institute and Hospital
2002
Recurrent glioblastoma multiforme (GBM) is incurable with current therapies. Biallelic mismatch repair deficiency (bMMRD) a highly penetrant childhood cancer syndrome often resulting in GBM characterized by high mutational burden. Evidence suggests that mutation and neoantigen loads are associated response to immune checkpoint inhibition.We performed exome sequencing prediction on 37 bMMRD cancers compared them adult brain neoplasms. Neoantigen was responsive from multiple tissues. Two...
Juvenile pilocytic astrocytomas (JPA), a subgroup of low-grade (LGA), are common, heterogeneous and poorly understood subset brain tumours in children. Chromosomal 7q34 duplication leading to fusion genes formed between KIAA1549 BRAF subsequent constitutive activation was recently identified proportion LGA, may be involved their pathogenesis. Our aim investigate additional chromosomal unbalances LGA whether incidence is associated with tumour type or location.Using Illumina-Human-Hap300-Duo...
Cranioplasty can be performed either with gold-standard, autologous bone grafts and osteotomies or alloplastic materials in skeletally mature patients. Recently, custom computer-generated implants (CCGIs) have gained popularity surgeons because of potential advantages, which include preoperatively planned contour, obviated donor-site morbidity, operative time savings. A remaining concern is the cost CCGI production. The purpose present study was to objectively compare relative cranioplasties...
Summary Objective: To determine the clinical characteristics, surgical challenges, and outcome in children younger than 3 years of age undergoing epilepsy surgery Canada. Methods: Retrospective data on patients who underwent at multiple centers across Canada from January 1987 to September 2005 were collected analyzed. Results: There 116 eight centers. Seizure onset was first year life 82%, mean 15.8 months (1–35 months). Second surgeries done 27 patients, a third 6. Etiologies malformations...
Gene expression profiling has proved crucial for understanding the biology of cancer. In rare diseases, including pediatric glioblastoma (pGBM), lack readily available fresh frozen (FF) material limits feasibility this analysis, as well its validation, on independent data sets, a step needed to ensure relevance, mandating use alternate RNA sources. To overcome limitation number and validate results we obtained FF pGBM, did microarray analysis extracted from formalin-fixed, paraffin-embedded...
Assess the role of radiotherapy (RT) in management primary and recurrent myxopapillary ependymoma (MPE).We conducted a retrospective review patients with MPE treated at Montreal Children's Hospital/McGill University Health Centre between 1985 2008.Seven children under age 18 were diagnosed for MPE. All surgery to site. Three underwent subtotal resection (STR) received adjuvant post-operative RT. Only one patient who had spinal drop metastases RT lumbosacral region following complete tumor....
Object. Renewed interest in stereotactic neurosurgery for movement disorders has led to numerous reports of clinical outcomes associated with different treatment strategies. Nevertheless, there is a paucity autopsy and imaging data that can be used describe the optimal size location lesions or implantable stimulators. In this study authors correlated efficacy thalamotomy tremor precise anatomical localization by using postoperative magnetic resonance (MR) an integrated deformable digital...
The authors sought to assess the utility of arterial spin labeling (ASL) perfusion 3T-MRI for presurgical evaluation poorly defined focal epilepsy in pediatric patients.
To report a case of posttraumatic pseudoaneurysm the intracavernous internal carotid artery presenting with massive epistaxis and to discuss its pathophysiology management.Case literature review.Pediatric intensive care unit in tertiary-care center.Twelve days after motor vehicle accident causing head injury facial fractures, this patient presented due . Nasal packing was performed subsequent angiography demonstrated vascular lesion that had dissected into sphenoid sinus. Endovascular stent...
Somatic and germline pathogenic variants in genes of the mammalian target rapamycin (mTOR) signaling pathway are a common mechanism underlying subset focal malformations cortical development (FMCDs) referred to as mTORopathies, which include dysplasia (FCD) type II, subtypes polymicrogyria, hemimegalencephaly. Our objective is screen resected FMCD specimens with mTORopathy features on histology for causal somatic mTOR genes, describe novel variants, examine variant distribution relation...
// Adam M. Fontebasso 1,* , Margret Shirinian 2,* Dong-Anh Khuong-Quang 3 Denise Bechet Tenzin Gayden Marcel Kool Nicolas De Jay Karine Jacob Noha Gerges Barbara Hutter 5 Huriye Şeker-Cin 4 Hendrik Witt 4,6 Alexandre Montpetit 7 Sébastien Brunet Pierre Lepage Geneviève Bourret Almos Klekner 8 László Bognár Peter Hauser 9 Miklós Garami Jean-Pierre Farmer 10 Jose-Luis Montes Jeffrey Atkinson Sally Lambert 11 Tony Kwan Andrey Korshunov 12 Uri Tabori 13...
Background: Acute hemorrhagic encephalomyelitis (AHEM) is considered as a rare form of acute disseminated (ADEM) characterized by fulminant encephalopathy with necrosis and most often fatal outcome. Objective: To report the association Ran Binding Protein (RANBP2) gene variant response to decompressive craniectomy high dose intravenous methylprednisolone (IVMP) in life-threatening AHEM. Design: Single case study. Case report: A 6-year-old girl known have sickle cell disease (SCD) presented...
Despite recent advances in surgical, anesthetic, and safety protocols the management of nonsyndromic craniosynostosis (NSC), significant rates intraoperative blood loss continue to be reported by multiple centers. The purpose current study was examine our center's experience with surgical correction NSC an effort determine independent risk factors transfusion requirements.A retrospective cohort patients undergoing at Montreal Children's Hospital carried out. Baseline characteristics...
Cranial vault surgery for craniosynostosis is generally managed postoperatively in the intensive care unit (ICU). The purpose of present study was to examine our center's experience with postoperative management otherwise healthy patients nonsyndromic (NSC) without routine ICU admission.A retrospective cohort NSC operated using a variety reshaping techniques pediatric center between 2009 and 2017 carried out. Patients documented preexisting comorbidities that would have required admission...
April 23, 2018April 10, 2018Free AccessScreening of PI3K-AKT-mTOR pathway genes in focal cortical dysplasias a clinical setting (P2.283)Andrea Accogli, Judith St-Onge, Nassima Addour, Roy Dudley, Jean-Pierre Farmer, Jeffrey Atkinson, Chantal Poulin, … Show All , Francois Dubeau, Joel Lafond Lapalme, Bernard Rosenblatt, Steffen Albrecht, Jean-Baptiste Riviere, and Myriam Srour FewerAuthors Info & AffiliationsApril 2018 issue90 (15_supplement)https://doi.org/10.1212/WNL.90.15_supplement.P2.283...