Results 31 to 40 of about 318,063 (307)

Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network

Frontiers in Pediatrics, 2021
Extensive lymphatic malformations (LMs) of the head and neck region may require tracheostomy to secure the airway. Treatment of these life-threatening LMs is usually multimodal and includes sclerotherapy and surgery, among others.
A. Holm, M. Te Loo, L. S. Schultze Kool, P. Salminen, V. Celis, E. Baselga, Sophie Duignan, V. Dvorakova, A. Irvine, L. Boon, M. Vikkula, Nader Ghaffarpour, C. Niemeyer, J. Rössler, Friedrich G. Kapp   +14 more
semanticscholar   +1 more source

A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation

Orphanet Journal of Rare Diseases, 2021
Background Lymphatic malformations (LMs) are benign congenital malformations that stem from the abnormal development of the lymphatic vessels during early embryogenesis. Somatic PIK3CA gene mutations are conventional cause leading to LMs.
Shengcai Wang, W. Wang, Xuexi Zhang, Jingang Gui, Jie Zhang, Yongli Guo, Yuanhu Liu, Lin Han, Qiaoyin Liu, Yanzhen Li, N. Sun, Zhiyong Liu, Jiangnan Du, J. Tai, X. Ni   +14 more
semanticscholar   +1 more source

Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature

Respiratory Medicine Case Reports, 2023
Background: The newborn malformation of primary lymphatic dysplasia (PLD), developed primarily due to PIEZO1 gene autosomal recessive mutation, is known to hinder with the lymphatic system action, causing chyle or lymph effusion into the peritoneal ...
Wedad Alhazmi, Afnan Qurban, Essa Alrashidi   +2 more
doaj   +1 more source

Lymphatic Malformation of Inguinal region in an adult: A Case Report.

Journal of Clinical and Biomedical Sciences, 2022
Lymphatic malformation are most commonly located in regions of confluence of major lymphatic channels, including the neck ( 75%), axilla ( 20%), mediastinum, retroperitoneum, pelvis and groin.
DVS Priyanka, C Sindhu , R Kalyani , Abhay K Kattepur   +3 more
doaj   +1 more source

Extensive solitary lymphatic malformation of the liver in a child: a case report and literature review

Radiology Case Reports, 2022
Intrabdominal lymphatic malformations are rare benign congenital vascular anomalies that account for less than 5% of benign masses in childhood, with an extremely variable clinical presentation.
Anna Parmeggiani, MD, Michelangelo Baldazzi, MD, Filomena Carfagnini, MD, Donatella Vivacqua, MD, Rita Golfieri, Prof., Luigi Lovato, MD, Laura Greco, MD   +6 more
doaj   +1 more source

Giant mesenteric lymphatic malformation presenting as small bowel volvulus [PDF]

, 2014
Abdominal pain with bilious emesis is an ominous clinical presentation with many possible causes. We describe a previously healthy 4-year-old boy who presented with these symptoms and ultrasound findings of fluid throughout most of the abdominal cavity ...
Cauley, Christy E., Goldstein, Allan M., Sagar, Pallavi, Spencer, Philip J.   +3 more
core   +1 more source

Peripheral vascular malformations : modern imaging [PDF]

, 2018
Currently the major aim in peripheral vascular malformation diagnosis, crucial for subsequent management and treatment, is to identify its haemodynamic characteristics.

core   +1 more source

Acquired lymphatic malformations of the buccal mucosa: A case report

Clinical Case Reports, 2018
Key Clinical Message Lymphatic malformation is a rare disorder caused by expansion and proliferation of the lymphatic vessels. About 50% of lymphatic malformations are present at birth, and 90% are diagnosed before the age of 2 years.
Atsushi Abe, Kenichi Kurita, Yu Ito
doaj   +1 more source

Pathophysiology of Slow-Flow Vascular Malformations: Current Understanding and Unanswered Questions

Journal of Vascular Anomalies, 2023
Background:. Slow-flow vascular malformations include venous, lymphatic, and lymphaticovenous malformations. Recent studies have linked genetic variants hyperactivating either the PI3K/AKT/mTOR and/or RAS/RAF/MAPK signaling pathways with slow-flow ...
Averill Clapp, Carrie J. Shawber, June K. Wu   +2 more
doaj   +1 more source

An approach to familial lymphoedema. [PDF]

, 2017
Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments,
Atton, Brice, Joyce, Keppler-Noreuil, Stemmer   +4 more
core   +1 more source