Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1001/jama.1962.03050350050016 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
EGLN1 mutations in Cis can induce congenital erythrocytosis with thromboses by increasing protein instability.
Br J Haematol
January 2025
Laboratoire de Cytologie Clinique et Cytogénétique, LBMR néoplasies myéloprolifératives, CHU CAREMEAU, Nîmes, France.
Hereditary congenital erythrocytosis results from constitutive activation of the hypoxia pathway. This pathway is controlled by regulation of the α isoforms of the hypoxia-inducible factor α/β heterodimer, notably via hydroxylation by prolyl hydroxylase domain 2 (PHD2). Mutations affecting PHD2 are involved in Type 3 erythrocytosis.
View Article and Find Full Text PDFElevated Vitamin B12 Levels in Myeloproliferative Neoplasm (MPN) Patients: A Potential Diagnostic and Prognostic Marker.
J Blood Med
December 2024
Department of Hematology, Hamad Medical Corporation, Doha, Qatar.
Article Synopsis
- The study investigates the link between elevated vitamin B12 levels and myeloproliferative neoplasms (MPNs), which include types of blood cancers like CML, PV, MF, and ET, suggesting that higher B12 could indicate disease presence and activity.
- Data from 467 MPN patients showed that 20% had elevated B12 levels, particularly in those with CML, with significant reductions in B12 levels observed after one year of treatment.
- While increased B12 levels appear related to MPN activity, their effectiveness as a consistent diagnostic marker needs more research to establish reliable sensitivity, specificity, and cutoff values.
High altitude pulmonary oedema: Mimicker of acute coronary syndrome.
Med J Armed Forces India
December 2024
Clinical Tutor, Department of Internal Medicine, Armed Forces Medical College, C/o 56 APO, India.
High altitude pulmonary oedema (HAPO) is a common emergency seen at high altitude. It can be associated with electrocardiogram (ECG) changes due to pulmonary arterial hypertension in the form of ST elevation and T wave inversion in the right precordial leads, which mimic acute coronary syndrome. These changes can lead to confusion in diagnosis and management.
View Article and Find Full Text PDFLung transplantation for diffuse pulmonary arteriovenous malformations associated with juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome: a case report.
Gen Thorac Cardiovasc Surg Cases
December 2024
Department of Thoracic Surgery, Kyoto University Graduate School of Medicine, Kyoto, 606-8507, Japan.
Background: Lung transplantation is a viable lifesaving option for patients with diffuse pulmonary arteriovenous malformations (AVMs). We present a case of diffuse pulmonary AVMs associated with juvenile polyposis and hereditary hemorrhagic telangiectasia (JP-HHT) that was successfully managed by lung transplantation.
Case Presentation: A 19-year-old woman developed severe hypoxemia due to pulmonary AVMs diagnosed at 4 years of age.
The Association Between Janus Kinase 2 and Factor V Leiden Mutations and Thrombotic Complications in Patients With Myeloproliferative Disorders: A Study From Saudi Arabia.
Cureus
November 2024
Clinical Hematology, Khamis Mushait General Hospital, Khamis Mushait, SAU.
Background The Janus kinase 2 (JAK2) V617F mutations are related to increased thrombotic risk in patients with myeloproliferative disorders (MPDs). However, little is known about whether inherited thrombophilia represents an additive risk factor in mutated subjects. We addressed the association between combined mutations of JAK2 and factor V Leiden (FVL) and thrombotic complications in Saudi Arabian patients with MPDs.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!