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Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report.
Radiol Case Rep
March 2025
Department of Radiology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia.
Niemann-Pick disease (NPD) is an autosomal recessive disease caused by deficient lysosomal enzyme or faulty cholesterol transport. A 9-year-old male patient presented with 6 years of abdominal swelling, previously treated as tuberculosis. He exhibited hepatosplenomegaly, delayed growth, and pancytopenia.
View Article and Find Full Text PDFHigh mRNA Expression of 24 Dehydrocholesterol Reductase (DHCR24) in the Treatment of Doxorubicin-Induced Heart Failure in Rats.
Int J Mol Sci
January 2025
School of Pharmaceutical Sciences, Sun Yat-sen University, Guangzhou 510275, China.
Objective: The objective of this study was to explore the possibility of treating heart failure in rats by delivering mRNA of 24-dehydrocholesterol reductase (DHCR24) into the body through lipid nanoparticles (LNPs).
Methods: We established a heart failure rat model using doxorubicin. The experiment was divided into blank, model, mRNA stock solution cardiac injection, mRNA stock solution intravenous injection, LNP-mRNA stock solution cardiac injection, and LNP-mRNA stock solution intravenous injection groups.
β-Glucan induced plasma B cells differentiation to enhance antitumor immune responses by Dectin-1.
BMC Immunol
January 2025
Laboratory of Oncology, Medical Research Center, The Second People's Hospital of Changzhou, The Third Affiliated Hospital of Nanjing Medical University, Changzhou, China.
Background: B lymphocytes, essential in cellular immunity as antigen-presenting cells and in humoral immunity as major effector cells, play a crucial role in the antitumor response. Our previous work has shown β-glucan enhanced immunoglobulins (Ig) secretion. But the specific mechanisms of B-cell activation with β-glucan are poorly understood.
View Article and Find Full Text PDFAcid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.
Hepatol Commun
January 2025
Research and Development, Sanofi, Cambridge, Massachusetts, USA.
Background: Acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are rare inherited sphingolipid disorders with multisystemic manifestations, including liver disease and dyslipidemia. Despite effective treatments, insufficient disease awareness frequently results in diagnostic delays during which irreversible complications occur. We delineated the shared and distinctive features of hepatic, splenic, and lipoprotein phenotypes in ASMD and GD1.
View Article and Find Full Text PDFGeneralized lymphatic anomaly in a pediatric patient manifesting as a rare presentation of hemorrhagic pleural effusion: a case report.
BMC Pediatr
January 2025
Department of Pediatrics, Huazhong University of Science and Technology Union Shenzhen Hospital, Shenzhen, China.
Background: Generalized lymphatic anomaly (GLA) is a rare congenital lymphatic malformation (LM) characterized by multiple infiltrating lymphangiomas in various tissues. Owing to its rarity, information on this disease is obtained mainly through case reports, leading to delayed diagnosis. In this study, we reported a case of generalized lymphatic anomaly in a pediatric patient manifesting as hemorrhagic pleural effusion.
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