A challenging diagnosis of the PIK3CA-related overgrowth spectrum.

Clin Dysmorphol

Guy's King's College and Saint Thomas' Hospitals' Medical and Dental School of King's College London, King's College London, School of Medical Education.

Published: October 2022

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000425DOI Listing

Publication Analysis

Top Keywords

challenging diagnosis
4
diagnosis pik3ca-related
4
pik3ca-related overgrowth
4
overgrowth spectrum
4
challenging
1
pik3ca-related
1
overgrowth
1
spectrum
1

Similar Publications

Parkinson's disease (PD) is a prevalent and challenging neurodegenerative disorder, and may involve impaired autophagy. Nuclear factor erythroid-2-related factor 2 (Nrf2) is crucial for regulating autophagy-related genes, maintaining cellular homeostasis. Electroacupuncture (EA), a complementary and alternative therapy for PD, has gained widespread clinical application.

View Article and Find Full Text PDF

Musculoskeletal injuries in children offer unique challenges compared with those in adults. Even low-energy injuries that involve the physis have the potential to cause a growth disturbance that could require treatment. Higher-energy injuries can be complicated by the same soft-tissue disruption, fracture contamination, and bone loss that are seen in adults.

View Article and Find Full Text PDF

Gun-related violence is becoming increasingly more common in the United States, and ballistic injuries pose a challenge to the orthopaedic surgeon on trauma call. The guiding principles of trauma care are almost exclusively based on blunt trauma, and the management principles do not always translate. Ballistic long bone fractures, particularly of the lower extremity, can often be managed with similar principles, although the injury pattern can make restoration of anatomic alignment a challenge.

View Article and Find Full Text PDF

The opioid crisis has been an issue in the United States since the mid-1990s, claiming numerous lives and presenting a significant challenge to health care clinicians. Various preoperative, intraoperative, and postoperative strategies aimed at reducing opioid consumption can be used by orthopaedic surgeons to help minimize this crisis. Preoperative screening tools can help identify patients at risk for prolonged opioid use, allowing for tailored interventions and counseling.

View Article and Find Full Text PDF

Revision total knee arthroplasty (rTKA) is an increasingly common challenge for arthroplasty surgeons. The survivorship of rTKA is significantly lower than that of primary total knee arthroplasty, resulting in increasing numbers of repeat rTKA. These repeat rTKAs present unique challenges including potentially massive bone loss and increased risk of infection.

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!