Primary lymphoedema

P Brouillard, MH Witte, RP Erickson… - Nature reviews Disease …, 2021 - nature.com
Lymphoedema is the swelling of one or several parts of the body owing to lymph
accumulation in the extracellular space. It is often chronic, worsens if untreated, predisposes …

Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema

S Martin-Almedina, PS Mortimer… - Physiological …, 2021 - journals.physiology.org
Primary lymphedema is a long-term (chronic) condition characterized by tissue lymph
retention and swelling that can affect any part of the body, although it usually develops in the …

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

D Li, ME March, A Gutierrez-Uzquiza, C Kao, C Seiler… - Nature medicine, 2019 - nature.com
The treatment of lymphatic anomaly, a rare devastating disease spectrum of mostly unknown
etiologies, depends on the patient manifestations. Identifying the causal genes will allow for …

[HTML][HTML] Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

SE Sheppard, ME March, C Seiler, LS Matsuoka… - JCI insight, 2023 - ncbi.nlm.nih.gov
Central conducting lymphatic anomaly (CCLA) due to congenital maldevelopment of the
lymphatics can result in debilitating and life-threatening disease with limited treatment …

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

AB Byrne, P Brouillard, DL Sutton… - Science translational …, 2022 - science.org
Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core
collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as …

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

D Li, TL Wenger, C Seiler, ME March… - Human molecular …, 2018 - academic.oup.com
Central conducting lymphatic anomaly (CCLA) is one of the complex lymphatic anomalies
characterized by dilated lymphatic channels, lymphatic channel dysmotility and distal …

Trametinib for refractory chylous effusions and systemic complications in children with Noonan syndrome

TA Nakano, AW Rankin, A Annam… - The Journal of …, 2022 - Elsevier
Objective To evaluate the effect of the RAS-MAPK pathway inhibitor trametinib on medically
refractory chylous effusions in 3 hospitalized patients with Noonan syndrome. Study design …

SHP2 drives inflammation-triggered insulin resistance by reshaping tissue macrophage populations

R Paccoud, C Saint-Laurent, E Piccolo… - Science Translational …, 2021 - science.org
Insulin resistance is a key event in type 2 diabetes onset and a major comorbidity of obesity.
It results from a combination of fat excess–triggered defects, including lipotoxicity and …

[图书][B] Pediatric gastrointestinal and liver disease E-Book

R Wyllie, JS Hyams, M Kay - 2020 - books.google.com
Now with full-color illustrations throughout, dozens of new review questions, and state-of-the-
art coverage of this fast-changing area, Pediatric Gastrointestinal and Liver Disease, 6th …

Diagnosis and management of lymphatic disorders in congenital heart disease

B Kelly, S Mohanakumar, VE Hjortdal - Current Cardiology Reports, 2020 - Springer
Abstract Purpose of Review Lymphatic disorders have received an increasing amount of
attention over the last decade. Sparked primarily by improved imaging modalities and the …