Results 21 to 30 of about 5,120 (193)

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

Haematologica, 2012
Background Congenital secondary erythrocytoses are due to deregulation of hypoxia inducible factor resulting in overproduction of erythropoietin. The most common germline mutation identified in the hypoxia signaling pathway is the Arginine 200-Tryptophan
Charline Ladroue, David Hoogewijs, Sophie Gad, Romain Carcenac, Federica Storti, Michel Barrois, Anne-Paule Gimenez-Roqueplo, Michel Leporrier, Nicole Casadevall, Olivier Hermine, Jean-Jacques Kiladjian, André Baruchel, Fadi Fakhoury, Brigitte Bressac-de Paillerets, Jean Feunteun, Nathalie Mazure, Jacques Pouysségur, Roland H. Wenger, Stéphane Richard, Betty Gardie   +19 more
doaj   +2 more sources

Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range [PDF]

Haematologica, 2013
Hypoxia-inducible factor 2α (HIF-2α) plays a pivotal role in the balancing of oxygen requirements throughout the body. The protein is a transcription factor that modulates the expression of a wide array of genes and, in turn, controls several key ...
Silverio Perrotta, Daniel P. Stiehl, Francesca Punzo, Saverio Scianguetta, Adriana Borriello, Debora Bencivenga, Maddalena Casale, Bruno Nobili, Silvia Fasoli, Adriana Balduzzi, Lilla Cro, Katarzyna J. Nytko, Roland H. Wenger, Fulvio Della Ragione   +13 more
doaj   +2 more sources

Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants—differential diagnosis and recommendation for biochemical and genetic screening

Frontiers in Pediatrics
Congenital erythrocytosis recognizes heterogeneous genetic basis and despite the use of NGS technologies, more than 50% of cases are still classified as idiopathic.
Rosalinda Giannini, Emanuele Agolini, Giuseppe Palumbo, Giuseppe Palumbo, Antonio Novelli, Giacomo Garone, Giacomo Garone, Melissa Grasso, Giovanna Stefania Colafati, Marta Matraxia, Eleonora Piccirilli, Annalisa Deodati, Annalisa Deodati, Giulia Ceglie, Giulia Ceglie   +14 more
doaj   +2 more sources

Erythrocytosis in congenital heart defects: hints for diagnosis and therapy from a clinical case [PDF]

Frontiers in Medicine
Erythrocytosis is one of the most common abnormalities that clinical hematologists, general practitioners, and internal medicine specialists could have to face off in their routine clinical practice.
Oscar Borsani, Oscar Borsani, Marzia Varettoni, Giacomo Riccaboni, Elisa Rumi, Elisa Rumi   +5 more
doaj   +3 more sources

Hyperviscosity-Related Ischemic Stroke in an Adolescent With Unrepaired Tetralogy of Fallot: A Case Report From a Resource-Limited Setting. [PDF]

Clin Case Rep
ABSTRACT Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Chronic hypoxemia in uncorrected TOF causes compensatory erythrocytosis and hyperviscosity, predisposing to cerebrovascular complications. Stroke in this context is rare but clinically significant, especially in resource‐limited settings where access to imaging and
Wolie AA, Mengistie CT, Mengistie BT, Mulatu ED, Teferi RN, Andeta BT, Minwagaw GT.   +6 more
europepmc   +2 more sources

Congenital and Acquired Polycythemias [PDF]

Deutsches Ärzteblatt international, 2008
Polycythemias are characterized by an increased concentration of red blood cells. Because blood cell counts are a routine investigation, these disorders present to non-hematologic physicians. Polycythemia vera (PV), an acquired stem cell disease, is the most important variant.Selective literature review and the authors' own clinical experiences ...
Fabian P, Siegel, Petro E, Petrides
openaire   +2 more sources

A case of congenital methaemoglobinaemia with secondary polycythemia

Journal of the Pakistan Medical Association, 2022
Haemoglobin contains iron in a ferrous form. When the iron is oxidized, it is called Methaemoglobin (MetHb). MetHb leads to tissue hypoxia, cyanosis, and secondary polycythemia. Methaemoglobinaemia is acquired or congenital. In this case, a 22-years-old male patient presented with cyanosis, headache, and lack of concentration.
Shamsa, Kanwal, Muhammad, Aamir, Sobia, Irum, Zujaja, Haroon, Muhammad Usman, Munir, Afshan, Bibi   +5 more
openaire   +3 more sources

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. [PDF]

J Mol Med (Berl), 2013
Congenital polycythemias have diverse etiologies, including mutations in the hypoxia sensing pathway. These include HIF2A at exon 12, VHL gene (Chuvash polycythemia), and PHD2 mutations, which in one family was also associated with recurrent pheochromocytoma/paraganglioma (PHEO/PGL).
Lorenzo FR, Yang C, Ng Tang Fui M, Vankayalapati H, Zhuang Z, Huynh T, Grossmann M, Pacak K, Prchal JT.   +8 more
europepmc   +4 more sources

A case of AORPA in an adult presenting as secondary polycythemia

The Egyptian Journal of Internal Medicine, 2022
Background Polycythemia refers to a condition of an abnormal increase in the red blood cell (RBC) mass. In men with a hematocrit > 60% or women with a hematocrit > 55%, there is 99% likelihood that the RBC mass is elevated.
Premapassan Krishnamurthy, Garyll Ryan Tariang Blah, Madhu Bala Negi, Gunjan Lalwani, C. Shah Harshil   +4 more
doaj   +1 more source

Acute Finger Ischemia Evaluated With Point‐Of‐Care‐Ultrasound and Diagnosed With Concurrent Polycythemia Vera, Antiphospholipid Syndrome, and Tobacco Use [PDF]

Clin Case Rep
We present a case of digital ischemia investigated and localized using point‐of‐care ultrasound (POCUS), in a patient that was subsrquently diagnosed with antiphospholipid syndrome and polycythemia vera concurrently, in the setting of active tobacco use. ABSTRACT In patients with undifferentiated extremity ischemia, point‐of‐care ultrasound (POCUS) can
Burgess T, Larkins M, Chu T.
europepmc   +2 more sources