Results 61 to 70 of about 49,728 (243)

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, Cara L. Mack, Michelle Saad, Dylan Applin, Maisam Abu‐El‐Haija, David Vitale, Zachary Graff, Gila Ginzburg   +7 more
wiley   +1 more source

Congenital Rosai-Dorfman disease presenting with Anemia, thrombocytopenia, and hepatomegaly

, 2009
Rosai-Dorfman disease(RDD) is a rare entity of non-Langerhans cell histiocytoses(non-LCH) which usually presents with bilateral painless cervical lymphadenopathy. We describe a neonate with RDD who presented with anemia, thrombocytopenia and hepatomegaly.
Ho, HK, Chan, GCF, Cheung, AN, S.Y. Ha, C.P. Chow, A.N. Cheung, Ha, SY, H.K. Ho, Chow, CP, G.C.F. Chan   +9 more
core   +1 more source

Abdominal wall hernia is a frequent complication of polycystic liver disease and associated with hepatomegaly

, 2022
BACKGROUND AND AIM: Polycystic liver disease (PLD) is related to hepatomegaly which causes an increased mechanical pressure on the abdominal wall. This may lead to abdominal wall herniation (AWH).
Roos‐Anne M. P. Bökkerink, Bökkerink, Roos‐Anne M. P., Gevers, Tom J. G., Drenth, Joost P H, Bökkerink, Roos-Anne M P, Drenth, Joost P. H., Wulphert Venderink, Richard P. G. ten Broek, Ten Broek, Richard P G, Tom J. G. Gevers, Joost P. H. Drenth, Barten, Thijs R. M., Barten, Thijs R M, Gevers, Tom J G, Thijs R. M. Barten, Venderink, Wulphert, ten Broek, Richard P. G.   +16 more
core   +1 more source

Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease

Journal of Lipid Research, 2007
Niemann-Pick type C (NPC) disease is a multisystem disorder resulting from mutations in the NPC1 gene that encodes a protein involved in intracellular cholesterol trafficking. Significant liver dysfunction is frequently seen in patients with this disease.
Eduardo P. Beltroy, Benny Liu, John M. Dietschy, Stephen D. Turley   +3 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

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

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, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Hepatomegaly and abnormal liver tests due to glycogenosis in adults with diabetes

, 2019
In adults with diabetes mellitus, hepatomegaly and abnormalities of liver enzymes occur as a consequence of hepatocellular glycogen accumulation, as has been well described in children.
Chatila, Rajaa, West, Brian A.
core   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia

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, Li Ma, Min Sun, Jiancheng Jiao, Yudong Zhang, Yue Tang, Nan Yang, Yuanyuan Kong   +7 more
doaj   +1 more source

Sono‐Vasomics With Super‐Resolution Contrast‐Enhanced Ultrasound (SR‐CEUS) for Characterization of Focal Liver Lesions: A Case Report

Portal Hypertension &Cirrhosis, EarlyView.
ABSTRACT Accurate differentiation between benign and malignant focal liver lesions (FLLs) remains a major diagnostic challenge. Vasomics, an emerging discipline, classifies vascular phenotypes into anatomical, biomechanical, biochemical, pathophysiological, and composite categories. Sono‐Vasomics, the ultrasound‐based subset, leverages super‐resolution
Yijie Qiu, Ying Wang, Rui Cheng, Ruiling He, Yi Dong, Christoph F. Dietrich   +5 more
wiley   +1 more source