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Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- A 36-year-old woman underwent amniocentesis during her pregnancy due to her age, revealing mosaic trisomy 21 with varying levels of affected cells.
- Despite the genetic abnormality, she was advised to continue with the pregnancy and delivered a healthy baby at 37 weeks.
- Follow-up tests showed that the baby exhibited low-level mosaicism for trisomy 21 but was normal in phenotype and development at 2 months old.
Case report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient.
Front Neurol
September 2024
Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Article Synopsis
- The RASopathies are a group of genetic syndromes caused by mutations in the RAS/MAPK signaling pathway, affecting conditions like neurofibromatosis type 1, Noonan syndrome, and others, often leading to similar symptoms due to abnormal cell growth.
- Epidermal nevus syndromes are characterized by skin nevi alongside other systemic issues, with recent findings indicating that mosaic RAS mutations may contribute to these conditions.
- A case study details a child's treatment with the MEK inhibitor selumetinib, demonstrating stabilization of nerve hypertrophy and improvement of skin lesions, highlighting the potential for targeted therapies beyond currently established uses for RASopathy-related symptoms.
The spectrum of rippling muscle disease.
Muscle Nerve
January 2025
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Article Synopsis
- Rippling muscle disease (RMD) is a rare condition marked by unique muscle contractions and stiffness, and can be classified into hereditary (hRMD) or immune-mediated (iRMD) types.
- hRMD is linked to genetic mutations in caveolin-3 or cavin-1/PTRF, displaying a wide range of symptoms from mild to severe muscle weakness, while iRMD is associated with autoimmune disorders and typically responds well to immunotherapy.
- The article reviews the intricate details of both hRMD and iRMD, focusing on their clinical presentations, underlying mechanisms, and the impact on muscle function.
Transcriptomic insights into the epigenetic modulation of turnip mosaic virus evolution in Arabidopsis thaliana.
BMC Genomics
September 2024
Instituto de Biología Integrativa de Sistemas (I 2 SysBio), CSIC-Universitat de València, Catedrático Agustín Escardino 9, Paterna, Valencia, 46980, Spain.
Background: Plant-virus interaction models propose that a virus's ability to infect a host genotype depends on the compatibility between virulence and resistance genes. Recently, we conducted an evolution experiment in which lineages of turnip mosaic virus (TuMV) were passaged in Arabidopsis thaliana genotypes carrying mutations in components of the DNA methylation and the histone demethylation epigenetic pathways. All evolved lineages increased infectivity, virulence and viral load in a host genotype-dependent manner.
View Article and Find Full Text PDFAirways Abnormalities in a Prospective Cohort of Patients With Rheumatoid Arthritis.
Chest
September 2024
Division of Pulmonary Sciences and Critical Care Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO.
Background: Rheumatoid arthritis (RA) affects roughly 1% of the population and commonly involves the lungs. Of lung involvement in RA, interstitial lung disease (ILD) is well known; however, airways disease in RA is relatively understudied.
Research Question: What are the baseline airways abnormalities in a prospective cohort of patients with RA based on pulmonary function testing (PFT) results, high-resolution CT (HRCT) scans, and computational imaging analysis and are there associations between these abnormalities and respiratory symptoms?
Study Design And Methods: In this single-center study, 188 patients with RA without a clinical diagnosis of ILD underwent HRCT imaging and PFT.
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