91 results match your criteria: "and The Research Institute of the McGill University Health Centre[Affiliation]"

Background: Penicillin allergy labels are associated with many adverse outcomes. Fear and restriction of future medication use also have an impact on health-related quality of life (HR-QoL). However, the impact of a drug allergy on HR-QoL and its associated factors remains unknown.

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Peanut allergen characterization and allergenicity throughout development.

Front Allergy

August 2024

Clinical Immunology, Angioedema and Allergy Unit, Center for Autoimmune Diseases, Sheba Medical Center, Tel Hashomer, Israel.

Article Synopsis
  • This study focuses on peanut allergy in children, emphasizing the need for improved diagnostic and treatment materials, particularly exploring the allergen content in peanut seeds at different developmental stages.
  • Researchers collected and analyzed peanut seeds across five stages of development, noting that allergenic proteins increased as seeds matured, while earlier stages showed a lower risk of allergenicity due to less concentrated proteins.
  • Findings suggest that the lower peanut-specific IgE binding in immature seeds could aid in creating safer oral immunotherapy treatments by indicating better times to introduce peanuts to allergic children.
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Background And Purpose: Treatment of malignancies with chemotherapy and surgery is often associated with disease recurrence and metastasis. Immunotherapy improves cancer treatment by creating an active response against tumor antigens. Various cancer cells express a large amount of glucose-regulated protein 78 (GRP78) protein on their surface.

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TULIPs decorate the three-dimensional genome of PFA ependymoma.

Cell

September 2024

Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada; Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Cancer and Hematology Center, Texas Children's Hospital, Houston, TX 77030, USA; Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

Posterior fossa group A (PFA) ependymoma is a lethal brain cancer diagnosed in infants and young children. The lack of driver events in the PFA linear genome led us to search its 3D genome for characteristic features. Here, we reconstructed 3D genomes from diverse childhood tumor types and uncovered a global topology in PFA that is highly reminiscent of stem and progenitor cells in a variety of human tissues.

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Introduction: Breast cancer is one of the most prevalent malignancies in women. Several treatment options are available today, including surgery, chemotherapy, and radiotherapy. Immunotherapy, as a highly specific therapy, involves adaptive immune responses and immunological memory.

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Pediatric intracranial sarcomas are rare, aggressive tumors with a poor prognosis in general. Here we report the case of a child who was initially diagnosed with a primary intracranial sarcoma, DICER1-mutant; subsequent genetic analyses confirmed a pathogenic germline DICER1 mutation. She received multimodal standard treatments consisting of surgery, radiotherapy and chemotherapy.

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We report the case of a 14-year-old boy with a steroid-dependent refractory tumor whose longstanding dexamethasone treatment was successfully discontinued after a course of bevacizumab. The use of bevacizumab despite the absence of clear evidence of radionecrosis allowed a significant decrease in the amount of the brain edema.

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Comprehensive Genomic Analysis of Cemento-Ossifying Fibroma.

Mod Pathol

February 2024

Department of Human Genetics, McGill University, Montreal, Canada; Department of Pathology, Biological Sciences Institute, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil. Electronic address:

Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its genetic alterations. A minimal proportion of COFs harbor CDC73 somatic mutations, and copy number alterations (CNAs) involving chromosomes 7 and 12 have recently been reported in a small proportion of cases. However, the genetic background of COFs remains obscure.

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Pediatric low-grade gliomas (pLGG) show heterogeneous responses to MAPK inhibitors (MAPKi) in clinical trials. Thus, more complex stratification biomarkers are needed to identify patients likely to benefit from MAPKi therapy. Here, we identify MAPK-related genes enriched in MAPKi-sensitive cell lines using the GDSC dataset and apply them to calculate class-specific MAPKi sensitivity scores (MSSs) via single-sample gene set enrichment analysis.

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Spermatogonial Transplantation.

Methods Mol Biol

June 2023

Department of Obstetrics and Gynecology, McGill University and The Research Institute of the McGill University Health Centre, Montreal, QC, Canada.

Spermatogonial transplantation is the unequivocal method to detect spermatogonial stem cells (SSCs) based strictly on the functional definition of stem cells - the cells' regenerative capacity. This method further allows for SSC quantification. A weakness of spermatogonial transplantation is its time-consuming nature; it takes 2 months to confirm the production of terminally differentiated cells in spermatogenesis, spermatozoa, in mice, which gives the assay endpoint.

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Purpose: Latent grade group ≥2 prostate cancer can impact the performance of active surveillance protocols. To date, molecular biomarkers for active surveillance have relied solely on RNA or protein. We trained and independently validated multimodal (mRNA abundance, DNA methylation, and/or DNA copy number) biomarkers that more accurately separate grade group 1 from grade group ≥2 cancers.

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Background: Distinguishing between true indolent and potentially life-threatening prostate cancer is challenging in tumours displaying clinicopathologic features associated with low or intermediate risk of relapse. Several somatic DNA copy number alterations (CNAs) have been identified as potential prognostic biomarkers, but the standard cytogenetic method to assess them has a limited multiplexing capability.

Methods: Multiplex ligation-dependent probe amplification (MLPA) targeting 14 genes was optimised to survey 448 tumours of patients with low or intermediate risk (Grade Group 1-3, Gleason score ≤7) who underwent radical prostatectomy.

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Unlabelled: Pediatric high-grade gliomas (pHGG) are lethal, incurable brain tumors frequently driven by clonal mutations in histone genes. They often harbor a range of additional genetic alterations that correlate with different ages, anatomic locations, and tumor subtypes. We developed models representing 16 pHGG subtypes driven by different combinations of alterations targeted to specific brain regions.

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Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.

Cell

March 2023

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada; Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, and The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada; Division of Experimental Medicine, Department of Medicine, McGill University, Montreal, QC H4A 3J1, Canada. Electronic address:

Germline histone H3.3 amino acid substitutions, including H3.3G34R/V, cause severe neurodevelopmental syndromes.

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Positive Plus One is a mixed-methods study of long-term mixed HIV-serostatus relationships in Canada (2016-19). Qualitative interviews with 51 participants (10 women, 41 men, including 27 HIV-positive and 24 HIV-negative partners) were analyzed using inductive thematic analysis to examine notions of relationship resilience in the context of emerging HIV social campaigns. Relationship resilience meant finding ways to build and enact life as a normal couple, that is, a couple not noticeably affected by HIV, linked to the partner with HIV maintaining viral suppression and achieving "undetectable = untransmittable" (U = U).

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Background: While considered the mainstay of treatment for specific bone metastases, ZA is used predominantly to treat osteolytic lesions. The purpose of this network -analysis is to compare ZA to other treatment options in its ability to improve specific clinical outcomes in patients with bone metastases secondary to any primary tumor.

Methods: PubMed, Embase and Web of Science were systematically searched from inception to May 5th, 2022.

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Generalizability of Machine Learning Models: Quantitative Evaluation of Three Methodological Pitfalls.

Radiol Artif Intell

January 2023

Department of Computer Science, University of Calgary, Calgary, Canada (F.M., K.O.); Department of Radiology, Massachusetts General Hospital, Boston, Mass (R.G.); Augmented Intelligence & Precision Health Laboratory (AIPHL), Department of Radiology and the Research Institute of the McGill University Health Centre, McGill University, Montreal, Canada (C.R., R.F.); Montreal Imaging Experts, Montreal, Canada (C.R., R.F.); Division of Pathology, Jewish General Hospital, Montreal, Canada (A.S.); and Radiomics and Augmented Intelligence Laboratory (RAIL), Department of Radiology and the Norman Fixel Institute for Neurologic Diseases, University of Florida College of Medicine, UF Health Shands Hospital, 1600 SW Archer Rd, Gainesville, FL 32610-0374 (R.F.).

Purpose: To investigate the impact of the following three methodological pitfalls on model generalizability: () violation of the independence assumption, () model evaluation with an inappropriate performance indicator or baseline for comparison, and () batch effect.

Materials And Methods: The authors used retrospective CT, histopathologic analysis, and radiography datasets to develop machine learning models with and without the three methodological pitfalls to quantitatively illustrate their effect on model performance and generalizability. F1 score was used to measure performance, and differences in performance between models developed with and without errors were assessed using the Wilcoxon rank sum test when applicable.

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SMARCA4 vulnerability in H3K27M midline glioma: A silver bullet for a lethal disease.

Mol Cell

January 2023

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada; Division of Experimental Medicine, Department of Medicine, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, and The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada. Electronic address:

To investigate epigenetic dependencies and identify therapeutic vulnerabilities, Mo et al. and Panditharatna et al. performed CRISPR screens and show that deadly H3K27M gliomas are dependent on mammalian BAF (SWI/SNF) chromatin remodeling complex.

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Article Synopsis
  • Juvenile Pilocytic Astrocytomas (JPAs) are common pediatric brain tumors linked to abnormal activation of the MAPK signaling pathway, primarily due to RAF-fusions like KIAA1549-BRAF, leading to challenges in detecting gene fusions because of mixed immune cell presence.
  • New methods like RNA-Seq, linked-read whole-genome sequencing, and in situ Hi-C were employed to identify and analyze low-frequency gene fusions specific to JPAs, resulting in the discovery of new BRAF fusion partners (PTPRZ1 and TOP2B) alongside the known KIAA1549 fusion.
  • The research highlights the effectiveness of integrating multiple genomic datasets to better understand JPA genetics and suggests that these innovative techniques could be valuable
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