Results 41 to 50 of about 6,168 (166)

Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy [PDF]

РМЖ. Мать и дитя, 2022
N.A. Polyanskaya1, A.A. Gorbunova2, E.B. Pavlinova1, O.A. Savchenko1, I.A. Kirshina1, M.E. Bagaeva3,4, T.V. Strokova3,4 1Omsk State Medical University, Omsk, Russian Federation 2Regional Children’s Clinical Hospital, Omsk, Russian Federation ...
N.A. Polyanskaya, A.A. Gorbunova, E.B. Pavlinova, O.A. Savchenko, I.A. Kirshina, M.E. Bagaeva, T.V. Strokova   +6 more
doaj  

Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review

Therapeutic Advances in Rare Disease, 2021
Background: Lysosomal acid lipase deficiency (LAL-D) is a very rare genetic abnormality caused by LIPA gene mutation. The disease has two distinct clinical variants in humans: Wolman disease in infants and cholesteryl ester storage disease in children ...
Aamir Bashir, Pramil Tiwari, Ajay Duseja
doaj   +1 more source

Osmotic Remodeling of Extracellular Vesicles for Precision Nanomedicine

Small, EarlyView.
Hypotonic lysis in bidistilled water is used to remodel B lymphocyte–derived extracellular vesicles into cargo‐depleted, structurally preserved nanovesicles. The process reduces intraluminal proteins and nucleic acids, reshapes membrane composition, and enhances tumor‐cell uptake in vitro, while allowing proof‐of‐concept reloading with exogenous agents,
Francesca Susa, Lorenzo Arnaboldi, Veronica De Giorgis, Marco Ghirimoldi, Elettra Barberis, Marco Brucale, Francesco Valle, Mario Malerba, Marta Vallino, Angelo Musicò, Roberto Frigerio, Alessandro Gori, Vera Mugoni, Claudia Voena, Roberto Pisano, Fabrizio Pirri, Silvia Arpicco, Marcello Manfredi, Tania Limongi   +18 more
wiley   +1 more source

Dapagliflozin Alters Plasma Metabolome in Patients With Type 1 Diabetes During Ketosis

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Use of sodium‐glucose cotransporter 2 inhibitors (SGLT2i) in patients with type 1 diabetes (T1D) is limited by increased risk of ketoacidosis. We aimed to determine metabolic pathways affected by SGLT2i treatment in adults with T1D during ketosis induced by insulin withdrawal.
Rosa Yang, Kevin Cho, Max C. Petersen, Kai E. Jones, Gary J. Patti, Janet B. McGill, Samantha A. DiGruccio   +6 more
wiley   +1 more source

Safety and Efficacy of Treatment of Pediatric Cholesteryl Ester Storage Disease with Lovastatin [PDF]

Pediatric Research, 1992
The aim of this study was to prospectively assess the safety and efficacy of lovastatin in the treatment of cholesteryl ester storage disease in siblings who were ages 11.6 and 5 y at the beginning of treatment. Mean total and LDL cholesterol in the male proband, 7.40 and 5.68 mmol/L, respectively, on diet alone, fell 30% to 5.2 (p < or = 0.001) and 31%
C J, Glueck, P, Lichtenstein, T, Tracy, J, Speirs   +3 more
openaire   +2 more sources

Long-term fatty acid stability in human serum cholesteryl ester, triglyceride, and phospholipid fractions[S]

Journal of Lipid Research, 2010
Fatty acid profiles of biological specimens from epidemiological/clinical studies can serve as biomarkers to assess potential relationships between diet and chronic disease risk.
Nirupa R. Matthan, Blanche Ip, Nancy Resteghini, Lynne M. Ausman, Alice H. Lichtenstein   +4 more
doaj   +1 more source

Metabolic Profiling of Circulating and Tumour‐Infiltrating T Cells Uncovers Bioenergetic Checkpoints Linked With Immune and Clinical Skewing in Melanoma Patients

Immunology, EarlyView.
In this study, we revealed the disturbed metabolic status of circulating and tumour‐infiltrating CD4+ and CD8+ T cells in melanoma patients through targeted metabolomic and lipidomic (on sorted subsets) and at single cell level using the SCENITH method.
Hugo Brouque, Kareem Mahdy, Stephane Mouret, Sylvain Henry, Camille Niveau, Mélanie Cettour‐Cave, Martin Pelosse, Florence de Fraipont, Julie Charles, Andrei Turtoi, Philippe Saas, Caroline Aspord   +11 more
wiley   +1 more source

Recent advances in polyendocrine metabolic ovarian syndrome, formerly polycystic ovary syndrome, with emphasis on endocrine and metabolic dysfunction and cardiovascular risk

Journal of Internal Medicine, EarlyView.
Abstract Polyendocrine metabolic ovarian syndrome (PMOS), previously known as polycystic ovary syndrome, affects 10%–13% of women of reproductive age and remains underdiagnosed despite its substantial health burden. The introduction of the new PMOS nomenclature in 2026 reflects a fundamental shift in understanding the condition as a lifelong endocrine ...
Maria Forslund, Johanna Melin, Anju E. Joham, Terhi T. Piltonen, D. Aled Rees, Helena J. Teede   +5 more
wiley   +1 more source

Fluvastatin Plus Dipyridamole Suppresses Canine Hemangiosarcoma Growth in Patient‐Derived Xenograft Models Through Lactate Dehydrogenase‐Associated Cholesterol/Lipid Metabolism

Veterinary and Comparative Oncology, EarlyView.
ABSTRACT Tumour cells commonly exhibit aerobic glycolysis and produce lactate despite oxygen availability. Lactate dehydrogenase (LDH) catalyses pyruvate‐lactate interconversion and regulates intracellular lactate levels. Endothelial cells also depend on glycolysis for ATP production, which prompted us to investigate LDH in canine hemangiosarcoma (HSA),
Tamami Suzuki, Suzune Tanaka, Keika Kishimoto, Takuma Goto, Jumpei Yamazaki, Takashi Kimura, Keisuke Aoshima   +6 more
wiley   +1 more source

Leptin–cholesterol crosstalk in pregnancy: Mechanistic implications for placental function and cardiometabolic programming

Experimental Physiology, EarlyView.
Abstract Pregnancy requires the coordinated maternal reorganization of lipid and endocrine pathways to sustain fetal growth and anticipate neonatal nutrition. Leptin, produced by adipose tissue and the placenta, acts as an integrative signal linking maternal energy status with trophoblast function and vascular adaptation, while cholesterol provides ...
Julio Flores, Diego Gumera, Andreina Arias, Cristián A. Amador, María José Yañez   +4 more
wiley   +1 more source