Autoinflammatory diseases have a quite similar clinical picture and are characterised by recurrent episodes of fever, joint features, abdominal features and skin features. Auto-inflammatory syndrome are related to mutations in genes implied in apoptosis or inflammation. FMF's gene is MEFV, present on the short arm of the chromosom 6, encoding the pyrin or marenostrie which is widely expressed in neutrophils and monocyts and implied in the control of the inflammation. Muckle wells syndrome and Familial cold urticaria are related to CIAS1 gene mutations which are located on the long arm of the chromosome 1 and encodes cryopirine involved in apoptosis. TRAPS gene is present on the chromosome 12, the majority of mutations are located in the extra cellular region of the receptor.
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Acta Neuropathol
January 2025
Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Gliomas are the most common brain tumor type in children and adolescents. To date, diagnosis and therapy monitoring for these tumors rely on magnetic resonance imaging (MRI) and histopathological as well as molecular analyses of tumor tissue. Recently, liquid biopsies (LB) have emerged as promising tool for diagnosis and longitudinal tumor assessment potentially allowing for a more precise therapeutic management.
View Article and Find Full Text PDFMol Cancer Res
January 2024
University of Oxford, Oxford, United Kingdom.
BRAF mutations in colorectal cancer (CRC) comprise three functional classes: Class 1 (V600E) with strong constitutive activation, Class 2 with pathogenic kinase activity lower than Class 1, and Class 3 which paradoxically lacks kinase activity. Non-Class 1 mutations associate with better prognosis, microsatellite stability, distal tumour location and better anti-EGFR response. Analysis of 13 CRC cohorts (n=6,605 tumours) compared Class 1 (n=709, 10.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Stanford University, Stanford, CA, USA.
Background: APOE*4 is the strongest genetic risk for late-onset Alzheimer's disease (AD), but other genetic loci may counter its detrimental effect, providing therapeutic avenues. Expanding beyond non-Hispanic White subjects, we sought to additionally leverage genetic data from non-Hispanic and Hispanic subjects of admixed African ancestry to perform trans-ancestry APOE*4-stratified GWAS, anticipating that allele frequency differences across populations would boost power for gene discovery.
Method: Participants were ages 60+, of European (EU; ≥75%) or admixed African (AFR; ≥25%) ancestry, and diagnosed as cases or controls.
Alzheimers Dement
December 2024
D&F Institut für Pathologie, Medizinische Universität Graz, Graz, Austria.
Background: Cerebral Amyloid Angiopathy (CAA), characterized by the presence of amyloid β (Aβ) deposits in cerebral blood vessels has been associated with cognitive impairment and Alzheimer's disease (AD). Vascular risk factors, such as type 2 diabetes (T2D), are known to affect vascular pathology and CAA-like depositions. Furthermore, Aβ deposition in blood vessels accompanied my inflammation especially gliosis, has been reported in the transgenic AD mouse models 5xFAD and APP that express human Aβ.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Amsterdam UMC location VUmc, Amsterdam, Noord-holland, Netherlands.
Background: SORL1 encodes the retromer-associated receptor SORLA that functions in endosomal recycling. Rare variants in SORL1 have been associated with Alzheimer's disease (AD) and rare pathogenic variants are estimated to occur in up to 2.75% of early onset AD patients and in 1.
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