Results 41 to 50 of about 14,696 (273)

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. [PDF]

, 2016
Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the ...
Farkas, Katalin, Horváth, Emese, Knox, Rachel, Nagy, Nikoletta, Parker, Victoria, Semple, Robert, Sulák, Adrien, Széll, Márta, Tripolszki, Kornélia   +8 more
core   +3 more sources

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

Pediatric intracranial dural arteriovenous fistulas: age-related differences in clinical features, angioarchitecture, and treatment outcomes. [PDF]

, 2016
OBJECTIVE Intracranial dural arteriovenous fistulas (DAVFs) are rare in children. This study sought to better characterize DAVF presentation, angioarchitecture, and treatment outcomes.
Amans, Matthew R, Cooke, Daniel L, Dowd, Christopher F, Fullerton, Heather J, Halbach, Van V, Hetts, Steven W, Higashida, Randall T, Maluste, Neil, Moftakhar, Parham   +8 more
core   +1 more source

Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle, Kiersten Ricci, Kelly Blache, Rebecca A. Marsh, Adrienne M. Hammill, Elissa Engel   +5 more
wiley   +1 more source

Orthotopic liver transplantation for massive hepatic lymphangiomatosis [PDF]

, 1988
Lymphangiomatosis is a rare malformation of the lymphatic system that causes severe symptoms secondary to progressive growth into or close to vital structures. A case report of liver failure related to this space-occupying intrahepatic mechanism is taken
ChapChap, P, Demetris, J, Esquivel, CO, Iwatsuki, S, Makowka, L, Mazzaferro, V, Miller, C, Starzl, TE, Tzakis, A   +8 more
core   +1 more source

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]

, 2019
Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Amirikia, Anand, Arora, Avery, Barbazetto, Boltshauser, Comi, Comi, Cruciani, Cunha e Sá, Curcio, Fenicia, Ferry, Gass, Giovannini, Gottlieb, Griffiths, Gunduz, Harris, Iwach, Kardon, Kashani, Kaushik, Kissel, Kivela, Kjeka, Kranemann, Lambiase, Lindsey, Linsenmeier, Luke, Madreperla, Mannino, Mantelli, Marana Perez, Maruyama, Muci Mendoza, Nema, Parsa, Patrianakos, Paulus, Pearce, Phelps, Recupero, Riley, Rodriguez Bujaldon, Schirmer, Scott, Scott, Sharan, Shields, Shields, Shin, Shirley, Singh, Sturge, Sujansky, Sullivan, Tanwar, Thomas-Sohl, Waelchli, Walter, Witschel, Wong, Worster Drought, Zallmann, Ziemssen, Zografos, Zografos   +76 more
core   +1 more source

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel, Patricia Pastura, Joshua P. Scallan, Timothy D. Le Cras   +3 more
wiley   +1 more source

Massive fetal chylothorax successfully treated with postnatal talc pleurodesis: A case report and review of the literature

Journal of Pediatric Surgery Case Reports, 2016
Despite the rapid advances in fetal medicine and pediatric surgery, congenital chylothoraces have an associated mortality of 22–65% and an increased morbidity resulting from pulmonary hypoplasia, severe infections secondary to immune globulin ...
Maggie M. Hodges, Timothy M. Crombleholme, Mariana Meyers, Ann Kulungowski, Ahmed I. Marwan, Taizo Nakano, Nicholas Behrendt, Kenneth W. Liechty   +7 more
doaj   +1 more source

GIANT CYSTIC HYGROMA COLLI IN AN ADULT- A RARE CASE REPORT [PDF]

, 2012
Cystic hygroma (lymphangioma) is often a benign congenital malformation of the lymphatic system that occurs as a result of sequestration or obstruction of lymphatic vessels. Theselesions are usually discovered in infant or children younger than two years
Karunakaran, Anupama, Ramamoorthy, Muthukumar   +1 more
core   +1 more source

A case of distal extrahepatic cholangiocarcinoma with two positive resection margins [PDF]

, 2016
Cholangiocarcinoma is an uncommon primary malignancy of the biliary tract that is challenging to diagnose and treat effectively due to its relatively silent and late clinical presentation.
Andersen, Anderson, Brandi, Brandi, Chung, Dave Harnanan, Ebata, El Rassi, Esposito, Farhat, Geynisman, Han, Hong, Ito, Jarnagin, Khan, Kitagawa, Klöppel, Lazaridis, Murakami, Murakami, Nakeeb, Nuzzo, Parkin, Pitt, Ravi Maharaj, Razumilava, Reddy, Rizvi, Roach, Sasaki, Serafini, Shaib, Soares, Srikanth Umakanthan, Steiner, Wayne A. Warner, Welzel, Wesley Ramcharan, Woo, Yamamoto, Yoshida, Yoshida   +42 more
core   +2 more sources