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Anti-PD1-/PDL1-induced chronic intestinal pseudo-obstruction: three cases treated with vedolizumab after corticosteroid failure with mixed results.
Cancer Immunol Immunother
January 2025
Department of Medical Oncology, Institut de Cancérologie de L'Ouest, 44805, Saint Herblain, France.
Immune checkpoint inhibitors (ICI), i.e., anti-PD1/PDL1 and anti-CTLA-4, have reshaped the prognosis of many cancers.
View Article and Find Full Text PDFThe Management of Bone Defects in Rett Syndrome.
Calcif Tissue Int
January 2025
Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
Rett syndrome (RS) is a rare neurodevelopmental disorder primarily caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene, responsible for encoding MECP2 which plays a pivotal role in regulating gene expression. The neurological and non-neurological manifestations of RS vary widely in severity depending on the specific mutation type. Bone complications, mostly scoliosis but also osteoporosis, hip displacement, and a high rate of fractures, are among the most prevalent non-neurological comorbidities observed in girls with RS.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
The UC Irvine Institute for Memory Impairments and Neurological Disorders (UCI MIND), Irvine, CA, USA.
Background: Individuals with Down syndrome (DS) have an increased genetic risk of developing Alzheimer's disease (AD), with most adults developing AD neuropathology in their 40s. Despite having a low frequency of systemic vascular risk factors such as hypertension and atherosclerosis, adults with DS display cerebrovascular pathology, including microbleeds, microinfarcts, and cerebral amyloid angiopathy. This suggests that blood-brain barrier (BBB) integrity may be compromised allowing the extravasation of blood proteins in the brain parenchyma.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
Johns Hopkins University, Saint Petersburg, FL, USA.
Background: Argonaute2 (Ago2) plays an essential role in RISC-mediated silencing of target mRNAs, which are critical for cellular functions. Argonaute2 Syndrome, also known as Ago2 Syndrome, is a rare neurological disorder recently discovered in humans. It has significant implications for brain development, yet it remains unstudied to date METHOD: To study this effect, we deleted the Ago2 gene in GABAergic (Slc32a1 cre) and Glutamatergic (Slc17a6 cre) mice.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
University of Kansas Medical Center, Kansas City, KS, USA.
Background: Mitochondrial dysfunction and Aβ accumulation are hallmarks of Alzheimer's disease (AD). However, the role of these pathologies in Down Syndrome associated Alzheimer's Disease (DSAD) is unknown. Decades of research describe a relationship between mitochondrial function and Aβ production.
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