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The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study.
Lancet Oncol
January 2025
Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:
Background: Gliomas are a major cause of cancer-related death among children, adolescents, and young adults (age 0-40 years). Primary mismatch repair deficiency (MMRD) is a pan-cancer mechanism with unique biology and therapeutic opportunities. We aimed to determine the extent and impact of primary MMRD in gliomas among children, adolescents, and young adults.
View Article and Find Full Text PDFX-chromosome-wide association study for Alzheimer's disease.
Mol Psychiatry
December 2024
Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, LabEx DISTALZ - U1167-RID-AGE Facteurs de Risque et Déterminants Moléculaires des Maladies Liées au Vieillissement, Lille, France.
Article Synopsis
- A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
- The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
- While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
Adult-Onset Neuronal Ceroid Lipofuscinosis: Variant Presenting as Focal Dystonia.
Tremor Other Hyperkinet Mov (N Y)
November 2024
Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru-29, Karnataka, India.
Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. variants cause varied phenotypic presentations.
Case Report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia.
Hereditary Transthyretin Amyloidosis Neuropathy with Intracellular Amyloidosis and Inclusions.
Can J Neurol Sci
November 2024
Department of Medicine/Physical Medicine & Rehabilitation, McMaster University, Hamilton, ON, Canada.
Immunological and molecular features of the tumor microenvironment of long-term survivors of ovarian cancer.
J Clin Invest
October 2024
School of Public Health, University of Michigan, Ann Arbor, Michigan, USA.
BACKGROUNDDespite an overall poor prognosis, about 15% of patients with advanced-stage tubo-ovarian high-grade serous carcinoma (HGSC) survive 10 or more years after standard treatment.METHODSWe evaluated the tumor microenvironment of this exceptional, understudied group using a large international cohort enriched for long-term survivors (LTS; 10+ years; n = 374) compared with mid-term (MTS; 5-7.99 years; n = 433) and short-term survivors (STS; 2-4.
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