Results 91 to 100 of about 298,625 (226)

Endothelial dysfunction in a child with Pearson marrow-pancreas syndrome managed with Descemet stripping automated endothelial keratoplasty using a suture pull-through techniqu [PDF]

, 2019
A 4-year-old girl with a history of Pearson marrow-pancreas syndrome presenting with severe, progressive photophobia was found to have bilateral, diffuse corneal thickening and peripheral pigmentary retinopathy. She underwent Descemet stripping automated
Areaux, Raymond G., Jr., Berry, Susan, Halbach, Caroline S., Hou, Joshua H., Vadhul, Raghav   +4 more
core   +1 more source

A machine learning tool for identifying newly diagnosed heart failure in individuals with known diabetes in primary care

ESC Heart Failure, Volume 12, Issue 1, Page 613-621, February 2025.
Abstract Aims We aimed to create a predictive model utilizing machine learning (ML) to identify new cases of congestive heart failure (CHF) in individuals with diabetes in primary health care (PHC) through the analysis of diagnostic data. Methods We used a sex‐ and age‐matched case–control design.
Per Wändell, Axel C. Carlsson, Julia Eriksson, Caroline Wachtler, Toralph Ruge   +4 more
wiley   +1 more source

Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia

Clinical Case Reports, 2018
Key Clinical Message The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented.
Min Hee Kim, Sanjay Shah, Sylvia S. Bottomley, Niketa C. Shah   +3 more
doaj   +1 more source

Chelation therapy in children

Медицинский совет, 2016
Iron overload (RV) is a condition caused by excessive intake of iron, and in the absence of the specific mechanisms for its excretion - excessive accumulation in tissues and their subsequent lesion leading to functional organ failure [1].
M. V. Krasolnikova
doaj   +1 more source

Suicide inhibition of alpha-oxamine synthases:structures of the covalent adducts of 8-amino-7-oxononanoate synthase with trifluoroalanine [PDF]

, 2006
The suicide inhibition of the α-oxamine synthases by the substrate analog, L-trifluoroalanine was investigated. The inhibition resulted in the formation of a complex with loss of all three fluorine atoms.
Abboud, Alexeev, Astner, Berman, Clausen, Dawkins, Dmitriy Alexeev, Dominic J. Campopiano, Edgar, Eisenberg, Eliot, Faraci, Fearon, Ferreira, Gable, Grishin, Gukulan, Hanada, Hunter, Hunter, Ikushiro, Jones, Keller, Kerbarh, Kraulis, Lindsay Sawyer, Nicholas Tomczyk, Olivier Kerbarh, Otwinowski, Ploux, Ploux, Ploux, Rendina, Robert. L. Baxter, Rory Watt, Schmidt, Scott P. Webster, Sheldrick, Shoolingin-Jordan, Silverman, Silverman, Wang, Wang, Webster, Zamam, Zhang   +45 more
core   +1 more source

Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.

Journal of Clinical Investigation, 2020
The congenital sideroblastic anemias (CSAs) can be caused by primary defects in mitochondrial iron-sulfur cluster (Fe-S) biogenesis. HSCB (heat shock cognate B), which encodes a mitochondrial co-chaperone, also known as HSC20 (heat shock cognate protein ...
Andrew Crispin, Chaoshe Guo, Caiyong Chen, D. Campagna, P. Schmidt, D. Lichtenstein, Chang Cao, A. Sendamarai, G. Hildick-Smith, Nicholas C. Huston, J. Boudreaux, S. Bottomley, M. Heeney, B. Paw, M. Fleming, S. Ducamp   +15 more
semanticscholar   +1 more source

Deciphering the pseudouridine nucleobase modification in human diseases: From molecular mechanisms to clinical perspectives

Clinical and Translational Medicine, Volume 15, Issue 1, January 2025.
This review discusses the regulatory mechanisms and pathological significance of pseudouridylation in human diseases, with a special emphasis on its involvement in tumourigenesis. Furthermore, the potential therapeutic advantages of targeting pseudouridylation are explored, offering novel strategies for disease treatment. Abstract RNA pseudouridylation,
Shiheng Jia, Xue Yu, Na Deng, Chen Zheng, Mingguang Ju, Fanglin Wang, Yixiao Zhang, Ziming Gao, Yanshu Li, Heng Zhou, Kai Li   +10 more
wiley   +1 more source

Case of Mitochondrial Encephalomyopathy secondary to COVID-19 in a Pediatric case of SIFD syndrome with a novel TRNT1 mutation

Clinical Immunology Communications
Syndrome of Congenital Sideroblastic Anemia, B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD) is caused by mutations in the tRNA nucleotidyltransferase 1 (TRNT1) gene.
Amer Khojah, Lauren Gunderman, Ameera Bukhari, Aisha Mirza, Madeline Schutt, Aisha Ahmed   +5 more
doaj   +1 more source

Interpreting iron studies [PDF]

, 2017
No abstract ...
Kelly, Alison U., McSorley, Stephen T., Patel, Prinesh, Talwar, Dinesh   +3 more
core   +1 more source

What do we know about micronutrients in critically ill patients? A narrative review

Journal of Parenteral and Enteral Nutrition, Volume 49, Issue 1, Page 33-58, January 2025.
Abstract Micronutrient (MN) status alterations (both depletion and deficiency) are associated with several complications and worse outcomes in critically ill patients. On the other side of the spectrum, improving MN status has been shown to be a potential co‐adjuvant therapy.
Angelique M.E. de Man, Christian Stoppe, Kristine W.A.C. Koekkoek, George Briassoulis, Lilanthi S.D.P. Subasinghe, Cristian Cobilinschi, Adam M. Deane, William Manzanares, Ioana Grințescu, Liliana Mirea, Ashraf Roshdy, Antonella Cotoia, Danielle E. Bear, Sabrina Boraso, Vincent Fraipont, Kenneth B. Christopher, Michael P. Casaer, Jan Gunst, Olivier Pantet, Muhammed Elhadi, Giuliano Bolondi, Xavier Forceville, Matthias W.A. Angstwurm, Mohan Gurjar, Rodrigo Biondi, Arthur R.H. van Zanten, Mette M. Berger, ESICM/FREM MN group   +27 more
wiley   +1 more source