Results 91 to 100 of about 6,225 (240)

Anemia na doença inflamatória intestinal: prevalência, diagnóstico diferencial e associação com variáveis clínicas e laboratoriais [PDF]

, 2014
CONTEXT AND OBJECTIVES:Anemia is the most frequent extraintestinal complication of inflammatory bowel disease. This study aimed to: 1) determine the prevalence of anemia among patients with inflammatory bowel disease; 2) investigate whether routine ...
Alves, Rodrigo Andrade, Figueiredo, Maria Stella, Miszputen, Sender Jankiel   +2 more
core   +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

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

MLASA Syndrome: A Case Report [PDF]

, 2008
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism.
Fallah, R.
core   +2 more sources

Ring sideroblasts and sideroblastic anemias

Haematologica, 2011
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ring sideroblasts in the bone marrow ...
CAZZOLA, MARIO, INVERNIZZI, ROSANGELA
openaire   +3 more sources

Successful Treatment of Anemia With Ringed Sideroblasts Induced by Antidepressants Through Vitamin B6 Supplementation and Discontinuation of Antidepressants

Case Reports in Hematology, Volume 2025, Issue 1, 2025.
Vitamin B6 (VB6) is a vital coenzyme for δ‐aminolevulinic acid synthase (ALAS) in heme biosynthesis. We report a 49‐year‐old male with severe microcytic anemia and ringed sideroblasts initially diagnosed as myelodysplastic syndrome (MDS). VB6 deficiency, attributed to long‐term amoxapine use, was identified.
Sanshiro Nakao, Chiaki Nakaseko, Chikako Ohwada, Keisuke Kirito, Asuka Shibamiya, Akane Tanaka, Reiko Watanabe, Naomi Shimizu, Suraiya Saleem   +8 more
wiley   +1 more source

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease [PDF]

, 2014
Background Glycyl-tRNA synthetase (GARS) is an aminoacyl-tRNA synthetase (ARS) that links the amino acid glycine to its corresponding tRNA prior to protein translation and is one of three bifunctional ARS that are active within ...
Amanda Smith, Chandree L Beaulieu, Dennis E Bulman, Hugh J McMillan, Jacek Majewski, Jeremy Schwartzentruber, Kym M Boycott, Michael T Geraghty, Pranesh Chakraborty, Suzie Lee   +9 more
core   +1 more source

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria. [PDF]

, 2019
BackgroundErythropoietic protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life-altering effects, tools that ...
Anderson, Karl E, Balwani, Manisha, Bissell, D Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L, Desnick, Robert J, Naik, Hetanshi, Overbey, Jessica R, Phillips, John D, Singal, Ashwani, Wang, Bruce   +10 more
core   +1 more source

Early neurological impairment and severe anemia in a newborn with Pearson syndrome [PDF]

, 2018
Background: Pearson marrow-pancreas syndrome (PS) is usually a fatal mitochondrial disease, mostly diagnosed during infancy or postmortem. PS is caused by the deletions or duplications of mitochondrial DNA (mtDNA).
Ballhausen, Diana, Bonafé, Luisa, Fattet, Sarah, Jacquemont, Sébastien, Joris, Nadia, Meuli, Reto, Morel, Anne-Sophie, Tolsa, Jean-François   +7 more
core  

Trace Element Status (Iron, Zinc, Copper, Chromium, Cobalt, and Nickel) in Iron-Deficiency Anaemia of Children under 3 Years [PDF]

, 2014
Мета. Визначити вміст мікроелементів і етіологічні фактори розвитку мікроелементного дефіциту у дітей із залізодефіцитною анемією (ЗДА) у віці від 0 до 3 років. Матеріали і методи. Були обстежені 30 пацієнтів університетської лікарні, м.Плевен, Болгарія -
Angelova, Maria Georgieva, Bozhinova, Atanaska Naumova, Loboda, Andrii Mykolaiovych, Nedkova-Kolarova, Vania Nedkova, Petkova-Marinova, Tsvetelina Valentinova, Pohorielov, Maksym Volodymyrovych, Ангелова, Мария Георгиева, Ангелова, Марія Георгієва, Божинова, Атанаска Наумова, Лобода, Андрей Николаевич, Лобода, Андрій Миколайович, Недкова-Коларова, Ваня Недкова, Петкова-Маринова, Цветелина Валентинова, Петкова-Маринова, Цветеліна Валентинова, Погорелов, Максим Владимирович, Погорєлов, Максим Володимирович   +15 more
core   +1 more source