Results 81 to 90 of about 303,350 (158)

Macrocytic Anemia: A Presenting Feature of VEXAS Syndrome

Annals of Internal Medicine: Clinical Cases
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an X-linked multisystem inflammatory syndrome characterized by a combination of various clinical features, including myeloid dysplasia, sweet syndrome, relapsing polychondritis,
Indira Acharya, Bernadette C. Siaton, Christopher J. Haas   +2 more
doaj   +1 more source

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Multidisciplinary approach to anemia [PDF]

Romanian Journal of Military Medicine, 2015
Introduction: We present the case of a 65 years- old woman who was admitted with a severe macrocytic anemia Hb= 5.7g/dl and diffuse bone pain. Biologically she has moderate thrombocytopenia 35 000/µl, a hepatic cytolysis and cholestatic syndrome ...
Anca Ghiațău, Eduard Dănăilă, Romelia Sfetcu, Lavinia Bârsan, Mihai Șotcan   +4 more
doaj  

Thiamine– Responsive Megaloblastic Anemia Syndrome

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2009
Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram) syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI), diabetes mellitus (DM) ,optic atrophy (OA ...
F Motavaselian, F Nourani, Kh Dehghani, M Kheirandish, AH Jafari, A Hashemi   +5 more
doaj  

Anemia in Dogs with Acute Kidney Injury

Veterinary Sciences
Anemia is a well-known complication in CKD dogs, but its frequency in AKI dogs has been poorly investigated. The aim of the present study was to retrospectively evaluate frequency, degree of severity, and regeneration rate of anemia in relation to IRIS ...
Ilaria Lippi, Francesca Perondi, Giulia Ghiselli, Sara Santini, Verena Habermaass, Veronica Marchetti   +5 more
doaj   +1 more source

TGFβ-activated kinase-1 knockdown in hematopoietic stem-progenitor cells causes PANoptosis and myelodysplastic syndrome-like disease in mice

Haematologica
Mutant SF3B1 (SF3B1mut) in hematopoietic stem/progenitor cells (HSPCs) primarily affects erythropoiesis, resulting in myelodysplastic syndromes (MDS) with refractory macrocytic anemia and ring sideroblasts.
Lei Zhang, Wenyan Li, Rohit Thalla, Rongyao Ma, Ryan Mack, Ameet R. Kini, Austin Runde, Patrick A. Hagen, Kevin Barton, Jorgena Kosti-Schwartz, Peter Breslin, Hong-Long Ji, Jiwang Zhang   +12 more
doaj   +1 more source

A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia

Molecular Genetics and Metabolism Reports, 2019
J. A. Romero, Imane Abdelmoumen, Daphne M. Hasbani, D. Khurana, Michael C. Schneider   +4 more
semanticscholar   +1 more source

Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome

Science Translational Medicine, 2016
Zhantao Yang, Siobán B. Keel, A. Shimamura, Li Liu, A. Gerds, Henry Y. Li, B. Wood, B. Scott, J. Abkowitz   +8 more
semanticscholar   +1 more source

A new disorder to keep in mind: VEXAS syndrome

Revista da Sociedade Portuguesa de Dermatologia e Venereologia
The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), which has recently been described, is a monogenic autoinflammatory syndrome that primarily affects males and has its onset in adulthood.
Egídio Freitas, Miguel Nogueira, Ana M. Lé, André Coelho, Inês Lobo   +4 more
doaj  

Middle Eastern Adolescent With Macrocytic Anemia

Global Pediatric Health, 2017
Sneha Butala BS, Brian Berman MD
doaj   +1 more source