Commentary on Mosaic Copy Number Variation in a Patient with Cerebral and Pulmonary Arteriovenous Malformations and Recurrent Epistaxis.

Clin Chem

Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.

Published: November 2024

Download full-text PDF

Source
http://dx.doi.org/10.1093/clinchem/hvae128DOI Listing

Publication Analysis

Top Keywords

commentary mosaic
4
mosaic copy
4
copy number
4
number variation
4
variation patient
4
patient cerebral
4
cerebral pulmonary
4
pulmonary arteriovenous
4
arteriovenous malformations
4
malformations recurrent
4

Similar Publications

Limitation of life-sustaining treatments in Asian ICUs: theory versus practice.

Crit Care

January 2025

Division of Respiratory and Critical Care Medicine, Department of Medicine, National University Hospital, National University Health System, Singapore, Singapore.

View Article and Find Full Text PDF

Sheldon Magder's article on applying Arthur Guyton's principles to clinical fluid management provides valuable insights into optimizing hemodynamics in critically ill patients. While emphasizing the role of right atrial pressure (RAP) in assessing cardiac output, challenges arise due to RAP's variable accuracy and the oversimplification of cardiovascular dynamics. Integrating RAP with dynamic assessments and bedside ultrasound can enhance fluid management strategies.

View Article and Find Full Text PDF

PIK3CA-Related Overgrowth Spectrum: Exploring Brain Growth From Fetal to Infant.

Pediatr Neurol

November 2024

Department of Neonatology, Unidade Local de Saúde de Vila Nova de Gaia, Vila Nova de Gaia, Portugal.

Article Synopsis
  • MCAP (Megalencephaly-capillary malformation-polymicrogyria syndrome) is a rare neurological disorder caused by mutations in the PIK3CA gene, leading to abnormal brain growth, vascular issues, and body overgrowth.
  • A clinical report details an infant diagnosed with MCAP, who showed signs of the disorder from prenatal imaging, which identified megalencephaly and a confirmed PIK3CA mutation postnatally, followed by early medical interventions.
  • Despite these interventions, the patient faced ongoing challenges such as macrocrania, hydrocephalus, and neurodevelopmental delays, highlighting the importance of multidisciplinary care and monitoring to manage the complexities of the disorder and emphasizing potential future therapies for better outcomes.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!