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 …
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 …
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
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 …
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
Central conducting lymphatic anomaly (CCLA) due to congenital maldevelopment of the
lymphatics can result in debilitating and life-threatening disease with limited treatment …
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 …
collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as …
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly
Central conducting lymphatic anomaly (CCLA) is one of the complex lymphatic anomalies
characterized by dilated lymphatic channels, lymphatic channel dysmotility and distal …
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 …
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 …
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 …
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 …
attention over the last decade. Sparked primarily by improved imaging modalities and the …