Results 61 to 70 of about 44,988 (225)
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 +13 more
wiley +1 more source
Frontiers in Pediatrics, 2020 Background: Classical Galactosemia (CG) is a rare autosomal recessive metabolic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene.
Lulu Li +7 more
doaj +1 more source
JPGN Reports, EarlyView.Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano +12 more
wiley +1 more source
Myeloid sarcoma presenting as an isolated pancreatic mass in a 3‐year‐old child
JPGN Reports, EarlyView.Abstract Myeloid sarcoma (MS) is an extramedullary tumor of myeloid precursor cells, frequently associated with acute myeloid leukemia (AML), and rarely occurring in isolation. We present a child with obstructive jaundice secondary to a pancreatic head mass.
Jappmann Kaur Monga +7 more
wiley +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 +3 more
wiley +1 more source
Clinical Case Reports, 2020 Major diagnosis for mediastinal and abdominal lymphadenopathy is lymphoma and tuberculosis. Spontaneous remarkable evolution should discuss viral infection on the condition that no corticosteroids have been taken before as they could magically improve an
Fares Ben Salem +4 more
doaj +1 more source
Clinical Images: Skeletal fluorosis presenting with diffuse periostitis and polyarticular synovitis
Arthritis &Rheumatology, EarlyView.
Mitali Sen
wiley +1 more source
The Brazilian Alagille syndrome study: New insights from a multicenter national cohort
JPGN Reports, EarlyView.Abstract Objectives To elucidate the natural history of liver disease and identify the predictors of native liver survival (NLS) in a Brazilian cohort of children with Alagille syndrome (ALGS). Methods Multicenter retrospective cohort study of children with ALGS. Descriptive statistics summarized clinical data.
Elisa Carvalho +34 more
wiley +1 more source
Khyber Medical University JournalObjective: To investigate Glycogen storage disease GSD type Ib in a Pakistani family through whole exome sequencing (WES) and Sanger sequencing to identify the genetic mutation and confirm its autosomal recessive inheritance. Methods: This case-control
Zeeshan Nazir +3 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij +11 more
wiley +1 more source