Results 51 to 60 of about 14,297 (183)

The evolution of cellular deficiency in GATA2 mutation. [PDF]

, 2014
To access publisher's full text version of this article click on the hyperlink at the bottom of the pageConstitutive heterozygous GATA2 mutation is associated with deafness, lymphedema, mononuclear cytopenias, infection, myelodysplasia (MDS), and acute ...
Allen, Carl, Bacon, Chris M, Bigley, Venetia, Bryceson, Yenan, Collin, Matthew, Cookson, Sharon, Dick, John E, Dickinson, Rachel E, Ferozepurwalla, Zaveyna, Gambineri, Eleonora, Gennery, Andrew, Gottfreðsson, Magnús, Hambleton, Sophie, Haniffa, Muzlifah, Heiskanen-Kosma, Tarja, Helbert, Matthew, Hirschfield, Gideon, Hämäläinen, Sari, Jardine, Laura, Jolles, Stephen, Langridge, Alexander, McGovern, Naomi, Milne, Paul, Morris, Emma, Pagan, Sarah, Prchal, Josef T, Reykdal, Sigrún, Richter, Alex G, Seppänen, Mikko, Swierczek, Sabina I, Thaventhiran, James E, Tholouli, Eleni, Zandi, Sasan   +32 more
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Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Reporting guidelines, review of methodological standards, and challenges toward harmonization in bone marrow adiposity research. Report of the Methodologies Working Group of the International Bone Marrow Adiposity Society [PDF]

, 2020
The interest in bone marrow adiposity (BMA) has increased over the last decade due to its association with, and potential role, in a range of diseases (osteoporosis, diabetes, anorexia, cancer) as well as treatments (corticosteroid, radiation ...
et al,, Scheller, Erica L, Tratwal, Josefine   +2 more
core   +1 more source

Regulation of stress-induced hematopoiesis [PDF]

, 2015
Purpose of review: Hematopoietic stem cells can self-renew and also give rise to the entire repertoire of hematopoietic cells. During acute infectious and inflammatory stresses, the hematopoietic system can quickly adapt to demand by increasing output of
Baltimore, David, Zhao, Jimmy L.
core   +1 more source

Expert Perspective: Diagnosis and Treatment of Castleman Disease

Arthritis &Rheumatology, EarlyView.
Castleman disease (CD) is a major diagnostic challenge for rheumatologists. Unicentric CD (UCD) involves one enlarged lymph node region, whereas multicentric CD (MCD) involves multiple enlarged lymph node regions. Both UCD and MCD may exhibit a wide range of symptoms that overlap with other immune‐mediated conditions.
Luke Y. C. Chen, Lu Zhang, David C. Fajgenbaum   +2 more
wiley   +1 more source

An intriguing case of a paravertebral extramedullary erythropoiesis presenting as tumor‐mimicking lesion in a patient with eosinophilia with FIP1L1‐PDGFRA rearrangement

Clinical Case Reports, 2022
Extramedullary hematopoiesis in the posterior mediastinum is rare. Our case interested a 28‐year‐old man with a history of eosinophilia with FIP1L1‐PDGFRA fusion gene who had a mediastinal mass surgically excised. Pathological examination concluded to an
Sassi Farah, Houcine Yoldez, Ayadi Rahma, Mlika Mona, Braham Emna, Abdennadher Mahdi, El Mezni Faouzi   +6 more
doaj   +1 more source

Human umbilical cord blood-borne fibroblasts contain marrow niche precursors that form a bone/marrow organoid in vivo [PDF]

, 2017
Human umbilical cord blood (CB) has attracted much attention as a reservoir for functional hematopoietic stem and progenitor cells, and, recently, as a source of blood-borne fibroblasts (CB-BFs). Previously, we demonstrated that bone marrow stromal cell (
Biondi, Andrea, Corsi, Alessandro, Donsante, Samantha, Pievani, Alice, Rambaldi, Benedetta, Remoli, Cristina, Riminucci, Mara, Robey, Pamela G., Sacchetti, Benedetto, Scagliotti, Valeria, Serafini, Marta, Vergani, Patrizia   +11 more
core   +2 more sources

Role of selenium in the pathophysiology of cardiorenal anaemia syndrome

ESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.
Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai, Minoru Yasukawa, Shigeru Shibata   +2 more
wiley   +1 more source

Extramedullary hematopoiesis presenting as a compressive cord and cerebral lesion in a patient without a significant hematologic disorder: a case report

Journal of Medical Case Reports, 2010
Introduction Intracranial or spinal compressive lesions due to extramedullary hematopoiesis have been reported in the medical literature. Most of the reported cases are extradural lesions or, on rare occasions, foci within another neoplasm such as ...
Seddighi Amir, Seddighi Afsoun
doaj   +1 more source

Primary myelofibrosis with extramedullary hematopoiesis – A case report with a review of literature

Journal of Applied Hematology, 2023
Primary myelofibrosis (PMF) is the least common of all myeloproliferative neoplasms (MPNs), characterized by a neoplastic transformation of early hematopoietic stem cells, predominantly megakaryocytes and granulocytes. The disease shows gradual evolution
Gaurav Mehta, Vaishnavi M Rathod, Tejasvi M Patel   +2 more
doaj   +1 more source