Results 131 to 140 of about 13,796 (248)

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Coexistence of Immune Thrombocytopenic Purpura and Bernard-Soulier Syndrome: A Rare Pediatric Case Report

International Medical Case Reports Journal
Sondus Alsharidah, Eman Almatar, Rania Lutfi, Omnia A Hashem Department of Hematology, NBK Specialized Children’s Hospital, Sabah, KuwaitCorrespondence: Eman Almatar, Department of Hematology, NBK Specialized Children’s Hospital, Sabah, Kuwait, Tel +965 ...
Alsharidah S, Almatar E, Lutfi R, Hashem OA   +3 more
doaj  

A preterm neonate with infantile liver failure syndrome 1 due to leucyl‐tRNA synthetase 1 gene (LARS1) mutations with a histopathologic phenotype of neonatal hemochromatosis

JPGN Reports, EarlyView.
Abstract We report a case of a premature, growth‐restricted female infant with feeding intolerance and coagulopathy, treated initially for sepsis, who progressed to neonatal acute liver failure and end‐stage hepatic encephalopathy after a prolonged hospitalization with extensive diagnostic evaluation, and was found by autopsy to have histopathologic ...
Adrienne Bruder, Naomi Laventhal, Raja Rabah, Jacqueline Meadow   +3 more
wiley   +1 more source

Eltrombopag use in surgical procedures in inherited thrombocytopenia: expanding the role of thrombopoietin-receptor agonists. [PDF]

Res Pract Thromb Haemost
Oliveira M, Coutinho M, Cruz E, Morais S.   +3 more
europepmc   +1 more source

A hepatic enigma: Pediatric presentation of primary biliary cholangitis

JPGN Reports, EarlyView.
Abstract Primary biliary cholangitis (PBC) is a chronic autoimmune condition characterized by destruction of intrahepatic bile ducts, leading to fibrosis and cirrhosis of the liver. It is an extremely rare pediatric disease with very few pediatric cases reported to date. Here, we report the case of a 14‐year‐old female who presented with elevated liver
Sindhura Kasturi, Rachel Schenker, Nick Shillingford, George Yanni   +3 more
wiley   +1 more source

Type II tRNA cleavage by SLFN14 endoribonuclease variants linked to inherited thrombocytopenia drives global translational repression. [PDF]

PLoS Biol
Ding C, Liu XA, Zhang F, Uematsu S, Qian SB, Xiang Y.   +5 more
europepmc   +1 more source

Use of single‐use ultra‐slim endoscopes for evaluation of pediatric esophageal varices: A pilot feasibility study

JPGN Reports, EarlyView.
ABSTRACT Esophageal varices (EV) need monitoring in patients with portal hypertension. In 2022, a single‐use ultra‐slim (3.5 mm) gastroscope was approved for use in children and adults. This study evaluated if an ultra‐slim gastroscope could evaluate, grade, and corroborate the presence of EV in sedated pediatric patients as compared to standard oral ...
Vishruti Patel, Evan Greenhall, Eric Dybbro, Sheetal Wadera, Joel A. Friedlander, Shauna Schroeder, Paul Tran   +6 more
wiley   +1 more source

GFI1B mutations define an emerging form of inherited thrombocytopenia: insights from a case report and literature review. [PDF]

Ann Hematol
Urbański B, Bąbol-Pokora K, Braun M, Janczar S, Michalak M, Sałacińska-Łoś E, Młynarski W, Treliński J.   +7 more
europepmc   +1 more source

Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk. [PDF]

Br J Haematol
Marín-Quílez A, Sánchez-Fuentes A, Zamora-Cánovas A, Gómez-González PL, Diaz-Ajenjo L, Benito R, Rodríguez-Alén A, Sevivas T, Murciano T, Murillo L, Butta NV, Revilla N, Campos R, Escribano P, Esteve J, Fernández-Mosteirin N, Ferrer-Marín F, Hernández L, Huerta-Aragonés J, León A, López-Duarte M, López E, Martín-Salces M, Nomdedeu M, Oña R, Peláez-Pleguezuelos I, Ramos F, Sebastián E, Serrano C, Sierra-Aisa C, Vidal-Laso R, González-Porras JR, Lozano ML, Bastida JM, Rivera J.   +34 more
europepmc   +1 more source