Results 81 to 90 of about 77,059 (283)

Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta‐Analysis

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2019
Background Inherited thrombophilias are well‐established predisposing factors for venous thromboembolism, but their role in arterial thrombosis, such as arterial ischemic stroke, remains uncertain.
Thita Chiasakul, Elizabeth De Jesus, Jiayi Tong, Yong Chen, Mark Crowther, David Garcia, Chatree Chai‐Adisaksopha, Steven R. Messé, Adam Cuker   +8 more
doaj   +1 more source

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy [PDF]

, 2015
Frameshift mutations in the TTN gene encoding titin are a major cause for inherited forms of dilated cardiomyopathy (DCM), a heart disease characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure. To date, there are no
Alessandra, Moretti, Alexander, Goedel, Annemieke Aartsma, Rus, Brenda, Gerull, Daniel, Sinnecker, Elvira, Parrotta, John J., Atherton, Julie, Mcgaughran, Karl Ludwig, Laugwitz, Katja, Metzger, Ludwig, Thierfelder, Luna Simona, Pane, Martin, Schaller, Matthias, Mann, Meinrad Paul, Gawaz, Michael, Gramlich, Murgia, Marta, Qifeng, Zhou, Richard P., Harvey, Siegfried, Labeit, Sonja, Sch\uf6tterl, Thomas, Brade, Zhifen, Chen   +22 more
core   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Frequency of Factor V Leiden and Prothrombin Polymorphism in South of Iran [PDF]

Iranian Journal of Medical Sciences, 2009
Normal hemostasis requires balanced regulation of prothromboticand antithrombotic factors. Inherited alteration of factor Vand prothrombin gene, the G20210A mutation, increases the resistanceof factor V to degradation and booster production ofprothrombin
Javad Dehbozorgian, Abdolreza Afrasiabi, Majid Yavarian, Golam Reza Panahandeh Shahraki, Mehran Karimi, Mohammadreza Bordbar, Pier M. Mannucci   +6 more
doaj  

Leiden Mutation and the Course of Severe Acute Pancreatitis

Общая реаниматология, 2013
Objective: to evaluate the impact of Leiden mutation on the course of severe acute pancreatitis. Subjects and methods. One hundred and twelve people were examined. Group 1 comprised 50 patients diagnosed with severe acute pancreatitis without coagulation
A. V. Ershov, V. T Dolgikh, T. I. Dolgikh, S. V. Morozov, Yu. P. Orlov, A. B. Reis   +5 more
doaj   +1 more source

Differential effects of selective inhibitors targeting the PI3K/AKT/mTOR pathway in acute lymphoblastic leukemia [PDF]

, 2013
Purpose: Aberrant PI3K/AKT/mTOR signaling has been linked to oncogenesis and therapy resistance in various malignancies including leukemias. In Philadelphia chromosome (Ph) positive leukemias, activation of PI3K by dysregulated BCR-ABL tyrosine kinase ...
Badura, Susanne, Falkenburg, J. H. Frederik, Liebermann, Marcus, Nijmeijer, Bart A., Ottmann, Oliver Gerhard, Pfeifer, Heike, Ruthardt, Martin, Tesanovic, Tamara, Wystub, Sylvia   +8 more
core   +3 more sources

Frequency of factor V leiden mutation.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2005
To determine the frequency of factor V leiden mutation.Observational study.One-year, January 2001 to December 2001 at the Armed Forces Institute of Pathology, Rawalpindi, Pakistan.Two hundred subjects each of apparently healthy and unrelated Punjabi and Pathan origins were included in the study.
, Nasiruddin, , Zahur-ur-Rehman, Masood, Anwar, Suhaib, Ahmed, Muhammad, Ayyub, Waqar, Ali   +5 more
openaire   +1 more source

Tamoxifen and the Factor V Leiden Mutation [PDF]

JNCI Journal of the National Cancer Institute, 2010
Both tamoxifen and the factor V Leiden (FVL) mutations are wellestablished risk factors for thromboembolic events (TE). Tamoxifen has been shown to increase risk by two- to fourfold in both adjuvant and preventive trials (1). The FVL mutation is well-established as a risk factor for TE in the general population, with a three- to sixfold relative risk ...
openaire   +1 more source

Proteome Analysis of Corynebacterium diphtheriae–Macrophage Interaction

PROTEOMICS, EarlyView.
ABSTRACT Contact of Corynebacterium diphtheriae with macrophages induces adaptations on both bacterial and cellular sides. The study presented here was aiming to shed light on the simultaneous intracellular adaptation of the bacteria and changes in the proteome of the phagocytes in response to the internalization of C. diphtheriae.
Luca Musella, Jens Möller, Christopher Lischer, Julio Vera‐Gonzalez, Jörg Hofmann, Lisa Ott, Andreas Burkovski   +6 more
wiley   +1 more source

Fator V de Leiden na doença de Legg-Calvé-Perthes Leiden's V-factor in Legg-Calvé-Perthes disease

Acta Ortopédica Brasileira, 2009
Trobofilias hereditárias têm sido implicadas na patogênese da doenca de Legg-Calvé-Perthes. Uma investigação do fator de risco hereditário mais comum para hipercoagulabilidade - a mutação no gene do fator V (fator V de Leiden) - foi conduzida em 20 ...
Lia Lira Olivier Sanders, Manuel Bomfim Braga Júnior, César Wagner Montenegro Cima, Rosa Maria Salani Mota, Maria Inês de M. C. Pardini, Sílvia Helena Barem Rabenhorst   +5 more
doaj   +1 more source