Results 11 to 20 of about 5,120 (193)

Primary familial and congenital polycythemia; The forgotten entity

Journal of Applied Hematology, 2018
Primary familial and congenital polycythemia (PFCP) is a rare autosomal dominant disorder caused by hypersensitivity of erythropoietin receptor of erythroid progenitors leading to increased rate of erythropoiesis at any given serum erythropoietin level ...
Mansour S Aljabry
doaj   +3 more sources

Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature

Hematology Reports, 2018
Methemoglobinemia is a rare overlooked differential diagnosis in patients presented with cyanosis and dyspnea unrelated to cardiopulmonary causes. Our patient is 29 year old Indian non-smoker male, his story started 6 months prior to presentation to our ...
Dina Sameh Soliman, Mohamed Yassin
doaj   +5 more sources

Concurrent Polycythemia of Undetermined Etiology and Smouldering Plasma Cell Myeloma

Case Reports in Pathology, 2018
The combination of polycythemia and plasma cell myeloma occurring concurrently is very rare and few cases have been reported in the literature. Further, the vast majority of these cases are cases of polycythemia vera and myeloma.
Roula Katerji, Chad A. Hudson
doaj   +2 more sources

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

Nature Genetics, 2002
Chuvash polycythemia is an autosomal recessive disorder that is endemic to the mid-Volga River region. We previously mapped the locus associated with Chuvash polycythemia to chromosome 3p25. The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with respect to a C-->T missense mutation in VHL, causing an ...
Ang, S, Chen, H, Hirota, K, Gordeuk, V, Jelinek, J, Guan, Y, Liu, E, Sergueeva, A, Miasnikova, G, Mole, D, Maxwell, P, Stockton, D, Semenza, G, Prchal, J   +13 more
core   +5 more sources

Mutations of von Hippel-Lindau Tumor-Suppressor Gene and Congenital Polycythemia [PDF]

The American Journal of Human Genetics, 2003
The von Hippel-Lindau (pVHL) protein plays an important role in hypoxia sensing. It binds to the hydroxylated hypoxia-inducible factor 1 alpha (HIF-1 alpha) and serves as a recognition component of an E3-ubiquitin ligase complex. In hypoxia or secondary to a mutated VHL gene, the nondegraded HIF-1 alpha forms a heterodimer with HIF-beta and leads to ...
Pastore, Yves, Jedlickova, Katerina, Guan, Yongli, Liu, Enli, Fahner, James, Hasle, Henrik, Prchal, Jaroslav F., Prchal, Josef T.   +7 more
openaire   +3 more sources

Congenital familial erythrocytosis: A case report with literature review

Saudi Journal of Medicine and Medical Sciences, 2015
Familial erythrocytosis is a heterogeneous group of hereditary conditions with an increased total red blood cell volume. The disease occurs in a familial pattern and follows a relatively benign course.
Ishrat H Dar, Showkat H Dar, Muqtasid A Kamili, Mohammad I Quadri, Hardeep S Wazir, Aijaz A Bhat   +5 more
doaj   +2 more sources

Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer

Blood, 2013
Key Points We describe a novel homozygous mutation in exon 2 of the VHL gene causing congenital polycythemia. We demonstrate the VHLP138L effect on the augmentation of erythropoiesis, along with structural and functional studies of this mutation.
Lucie Lanikova, Felipe Lorenzo, Chunzhang Yang   +2 more
exaly   +5 more sources

Congenital Familial Erythrocytosis: A case report with a review

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Familial erythrocytosis is a heterogeneous group of hereditary conditions with an increased total RBC volume. The disease occurs in a familial pattern and follows a relatively benign course.
Muqtasid Ahmad Kamili, Ishrat Hussain Dar, Showkat Hussain Dar, Mohammed Ismail Quadri, Hardeep Singh Wazir, Aijaz Arshad Bhat   +5 more
doaj   +3 more sources

Low bone mineral density and its related factors in adults with congenital heart disease in Vietnam: A cross‐sectional study

Health Science Reports, 2022
Background and Aims Recent studies have highlighted the increased risk of low bone mineral density (BMD) in adults with cardiovascular disease. However, little is known about BMD in adults with congenital heart disease (CHD), particularly in developing ...
Thanh‐Huong Truong, Mai‐Ngoc Thi Nguyen, Ngoc‐Thanh Kim, Thuy‐Hoa Thi Nguyen, Doan‐Loi Do, Thanh‐Tung Le, Hong‐An Le   +6 more
doaj   +2 more sources

Clinical Presentation of a Patient with Congenital Polycythemia

Collegium antropologicum, 2006
The authors describe a 19 year old male with an isolated but absolute erythrocytosis with iron deficiency without evidence for polycythemia vera as well as another causes of erythrocytosis. The polycythemia was due to a recently described von Hippel-Lindau (VHL) mutation.
Mataija, Marina, Vrsalović, Renata, Hajnžić, Tomislav Franjo   +2 more
openaire   +5 more sources