Lymphatic malformations involving the thorax in children: a retrospective cohort study [PDF]
Background Lymphatic malformations (LMs) involving the thorax are rare, with limited clinical understanding. We aimed to summarize the classification, clinical features, treatment, and prognosis of thoracic LMs, and to improve disease management and ...
Wenting Han +7 more
doaj +2 more sources
Kaposiform Lymphangiomatosis as a Cause of Vaginal Bleeding & Discharge: A Case Report. [PDF]
Prepubertal vaginal bleeding is a common presentation for pediatric adolescent gynecologists with a broad differential diagnosis that historically may not have included complex lymphatic anomalies. However, given recent consensus criteria and imaging capabilities, this may be a condition that pediatric adolescent gynecologists see more frequently in ...
Das K +7 more
europepmc +3 more sources
Case Report: 3 cases of abdominal lesions with lower limb lymphedema—rare mutations in complex lymphatic anomalies [PDF]
Complex lymphatic anomalies (CLAs) are rare vascular anomalies characterized by abnormal proliferation of lymphatic and blood vessels, often resulting in multisystem involvement with heterogeneous clinical manifestations.
Yujia Zhang +8 more
doaj +2 more sources
Comment on: Potential biomarkers of kaposiform lymphangiomatosis. [PDF]
Le Cras TD, Adams DM.
europepmc +3 more sources
Human Lymphatic Endothelial Cells Expressing NRASQ61R Model Characteristics of Kaposiform Lymphangiomatosis. [PDF]
ABSTRACT Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly characterized by lymphatic overgrowth and dysfunction. The goal of this study was to determine how the NRASQ61R variant found in the tissue of KLA patients impacts key characteristics of lymphatic endothelial cells (LEC).
Fox DA +3 more
europepmc +2 more sources
Detection of NRAS Mutation in Kaposiform Lymphangiomatosis Using Cell-free DNA from Plasma
Kaposiform lymphangiomatosis is a rare lymphatic anomaly that occurs in children and is associated with life-threatening complications. The somatic mutation NRAS Q61R (c.182A>G) has been identified in lesional tissue samples of patients with kaposiform ...
Fiona Lynch +2 more
doaj +1 more source
A Clearer Picture: Using Fetal MRI to Diagnose Neck Masses and Predict Airway Compromise. [PDF]
ABSTRACT Introduction Fetal neck masses are rare but can be life‐threatening if causing airway compromise. Early and accurate diagnosis of these masses allows life‐saving interventions to be undertaken at birth in the form of the EXIT procedure. Methods A single institution case series of all patients referred for fetal MRI to a tertiary center in the ...
Wilson L, Whitby EH, Raghavan A.
europepmc +2 more sources
Pediatric Diffuse Pulmonary Lymphangiomatosis: CT Characteristics
Objective: To explore the typical CT features of diffuse pulmonary lymphangiomatosis in children and improve the diagnostic accuracy. Methods: The radiologic data of 13 children with diffuse pulmonary lymphangiomatosis confirmed by clinical, imaging and ...
Jun GAO +4 more
doaj +1 more source
Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant. [PDF]
ABSTRACT Background The somatic activating variant in BRAF (p.V600E) was recently described as a novel cause of macrocystic head and neck lymphatic malformations in three individuals. Other recent studies profiling the genetic causes of more complex lymphatic anomalies identified this same pathogenic BRAF variant.
Fox MD +11 more
europepmc +2 more sources
An Examination of Sirolimus's Role in Endothelial Cells of Kaposiform Haemangioendothelioma. [PDF]
ABSTRACT Kaposiform haemangioendothelioma (KHE) research faces challenges due to the lack of established cell lines and suitable animal models. Our study aimed to establish KHE cell lines, spheroids and refine murine models to mimic disease characteristics, advancing our understanding of KHE pathogenesis and exploring novel therapies. Primary KHE cells
Li Y, Wang C, Kong M, Li L, Ji Y.
europepmc +2 more sources

