Results 121 to 130 of about 77,059 (283)

Acute mesenteric ischemia in an African American patient with heterozygous factor V Leiden deficiency

Journal of Community Hospital Internal Medicine Perspectives, 2019
It is well documented that factor V Leiden mutation (FVL) is a common hypercoagulable risk factor in the Caucasian population. Patients with homozygous FVL mutation have an increased risk for venous thromboembolism.
Hadiatou Barry, Ali Ghani, David Gary Smith   +2 more
doaj   +1 more source

Tyrosine residues at the substrate binding site in human NQO1 homodimer: Protein conformational dynamics and optimization of substrate binding geometry

The FEBS Journal, EarlyView.
Human NAD(P)H:quinone oxidoreductase 1 is a homodimeric flavoenzyme crucial for redox metabolism and linked to significant health issues. Point mutations at Tyr126 and Tyr128 demonstrate their essential roles in optimizing substrate binding geometry for catalysis, as well as in half‐site reactivity and conformational dynamics during the enzyme's ...
Maribel Rivero, Juan Luis Pacheco‐Garcia, Pavla Vankova, Dmitry Loginov, Isabel Quereda‐Moraleda, Jose Manuel Martin‐Garcia, Petr Man, Angel Luis Pey, Milagros Medina   +8 more
wiley   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Is thrombophilia a major risk factor for deep vein thrombosis of the lower extremities among Lebanese patients?

Vascular Health and Risk Management, 2009
R Kreidy1, N Irani-Hakime21Department of Vascular Surgery, 2Department of Laboratory Medicine, Saint George Hospital, University Medical Center, University of Balamand, Beirut, LebanonAim: Factor V Leiden (R506Q) mutation is the most commonly ...
R Kreidy, N Irani-Hakime
doaj  

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Right Ventricular Thrombus in a 36-Year-Old Man with Factor V Leiden

Journal of Tehran University Heart Center, 2015
Factor V Leiden deficiency is the most common hereditary hypercoagulable disease in the United States and involves 5% of the Caucasian population. Up to 30% of patients who present with deep vein thrombosis (DVT) or pulmonary thromboembolism present with
Shokoufeh Hajsadeghi, Roozbeh Naghshin, Maral Hejrati, ScottReza Jafarian-Kerman   +3 more
doaj  

Evaluation of Antithrombin-III Deficiency and Factor V Leiden Mutation in Patients with Stroke in Young Patients

Pakistan Armed Forces Medical Journal
Objective: To evaluate Antithrombin III and Factor V Leiden mutation in stroke among young patients and its association with various socio-demographic aspects. Study Design: Cross-sectional study.
Hamad Khan, Khurram Haq Nawaz, Muhammad Asif Nizami, Hamid Mukhtar, Faisal Shabbier Sheikh, Muhammad Anjum   +5 more
doaj   +1 more source

Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 1 : shepherds [PDF]

, 2016
In light of improving breeding advice, the frequency was estimated for all the disease-causing mutations that were known at the start of the study and that are potentially relevant for a group of dog breeds, which are relatively popular or in which the ...
Beckers, Evy, Peelman, Luc, Ronsyn, L, Van Poucke, Mario   +3 more
core   +1 more source

Human‐derived cardiac‐neural microtissues reveal catecholaminergic polymorphic ventricular tachycardia is also a disease of the sympathetic neuron

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic diagram illustrating the proposed pathway in which regulatory defects might occur in sympathetic neurons derived from hiPSC in catecholaminergic polymorphic ventricular tachycardia (CPVT). Specifically, enhanced calcium transients appeared to derive from three sources: enhanced membrane excitability (due to loss of ...
Ni Li, Chenchen Zhang, Mengying Xu, YoonYoung Choi, Davi Sidarta‐Oliveira, Ruirui Dong, Xinyu Hu, Enrique M. Toledo, Cesar A. Prada‐Medina, Finbar Argus, Kun Liu, Mingyu Li, Linna Zhou, Hagan Bayley, Corey Smith, Chris Denning, Ana I. Domingos, Guoliang Hao, Dan Li, David J. Paterson   +19 more
wiley   +1 more source

POLYMORPHISM OF GENES RESPONSIBLE FOR THROMBOPHILIA AND THEIR INFLUENCE ON THE DEVELOPMENT OF THROMBOSIS IN CHILDREN

Acta Biomedica Scientifica, 2013
The article is devoted to the prevalence of polymorphism of genes responsible for thrombophilia among children. The study included 52 children with thrombosis and 59 children without thrombosis. Detects mutations factor V Leiden, G20210A prothrombin gene,
L. V. Zhdanova, L. I. Patrushev, V. V. Dolgikh   +2 more
doaj