Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS)

G Canaud, JCL Gutierrez, AD Irvine, P Vabres… - Genetics in …, 2023 - Elsevier
Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses several rare
conditions resulting from activating variants in PIK3CA. Alpelisib, a PI3Kα-selective inhibitor …

Complex Lymphatic Anomalies: Molecular Landscape and Medical Management

AJ Borst, A Britt, DM Adams - Seminars in Pediatric Surgery, 2024 - Elsevier
The lymphatic system is one of the most essential and complex systems in the human body.
Disorders that affect the development or function of the lymphatic system can lead to multi …

Centers of excellence: if we build it, will they come?

J Fusco, R Williams, M Malek, JR Avansino… - Journal of Pediatric …, 2023 - Elsevier
Pediatric surgeons have been pursuing high quality, affordable care or value-based care for
over 50 years. One approach to streamlining the clinical care for a complex problem was the …

[HTML][HTML] Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations

H Chen, B Sun, W Gao, Y Qiu, C Hua, X Lin - Orphanet Journal of Rare …, 2023 - Springer
Background Facial infiltrating lipomatosis (FIL) is a rare congenital disorder characterized by
unilateral facial swelling, for which surgery is the prevailing therapeutic option. Several …

[HTML][HTML] Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian …

A Gazzin, C Leoni, G Viscogliosi, F Borgini, L Perri… - Genes, 2023 - mdpi.com
PIK3CA-related disorders encompass many rare and ultra-rare conditions caused by
somatic genetic variants that hyperactivate the PI3K-AKT-mTOR signaling pathway, which is …

To study the protective effect of Huangqi Baihe Granules on Radiation brain injury based on network pharmacology and experiment

X Liu, J Li, Y Wang, B Wu, S Wang, Q Guo… - Journal of …, 2023 - Elsevier
Abstract Ethnopharmacological relevance Huangqi baihe Granules (HQBHG), which is a
key Chinese medical prescription, has a remarkable efficacy in oxidative stress and …

[HTML][HTML] Clinical characteristics and surgical management of facial infiltrating lipomatosis: a single center experience

H Chen, B Sun, W Xia, Y Qiu, W Gao, C Hua… - Head & Face Medicine, 2024 - Springer
Background Facial infiltrating lipomatosis (FIL) is a rare condition characterized by
congenital facial enlargement. Beyond its impact on physical appearance, FIL can also …

[HTML][HTML] Vascular Malformations

N Bhari, A Agarwal, CVV Asritha, M Panda… - Indian Dermatology …, 2024 - journals.lww.com
Vascular malformations are intricate anomalies of the circulatory system, presenting a
diverse array of clinical manifestations, and posing significant challenges in diagnosis and …

Primary targeted medical therapy for management of bilateral head and neck lymphatic malformations in infants

CM Richardson, JN Perkins, K Zenner, C Bull… - International journal of …, 2023 - Elsevier
Objectives Patients born with bilateral head and neck lymphatic malformations (BHNLMs)
often require multiple invasive treatments, including tracheostomy. We hypothesized that …

[HTML][HTML] A real-world disproportionality analysis of FDA adverse event reporting system (FAERS) events for alpelisib

Y Lin, X Zheng, Y Chen, Q Nian, L Lin, M Chen - Heliyon, 2024 - cell.com
In this study, we delved into the safety profile of alpelisib, an FDA-approved treatment for
hormone receptor-positive, HER2-negative, PIK3CA-mutated advanced or metastatic breast …