نتایج جستجو برای: glanzmann
تعداد نتایج: 297 فیلتر نتایج به سال:
Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
The reciprocally connected GABAergic globus pallidus (GP)-glutamatergic subthalamic nucleus (STN) network is critical for voluntary movement and an important site of dysfunction in movement disorders such as Parkinson's disease. Although the GP is a key determinant of STN activity, correlated GP-STN activity is rare under normal conditions. Here we define fundamental features of the GP-STN conn...
Waiting times for hospital care are a significant issue in the UK National Health Service (NHS). The reforms of the health service in 1990 gave a subset of family doctors (GP fundholders) both the ability to choose the hospital where their patients were treated and the means to pay for some services. One of the key factors influencing family doctors' choice of hospital was patient waiting time....
glanzmann’s thrombasthenia (gt) is an autosomal recessive inherited platelet function defect characterized by normal platelet count, prolonged bleeding time and abnormal clot retraction. this disease typically presents in infancy or early childhood and has proven to have very good prognosis. in this case study, a 22‑year‑old gt patient who also developed human immunodeficiency virus (hiv) infec...
background: the most common polymorphisms identified in the methylenetetrahydrofolate reductase (mthfr) gene, c677t and a1298c lead to defective activity of this enzyme and increase the risk of venous and arterial thrombosis. there are limited investigations regarding the effects of thrombogenic polymorphisms on the clinical phenotypes of rare hereditary hemorrhagic disorders like glanzmann's t...
BACKGROUND Glanzmann thrombasthenia (GT) is an exceedingly rare but well-defined inherited disorder of platelet function caused by a defect in the glycoprotein IIb/IIIa complex. The association of GT with consanguinity has been noted, especially in geographic regions in which intermarriage is common. In most patients, GT is diagnosed during early infancy or before the age of 5 years. Common man...
An improvement culture is required in the NHS. Staff members who move from one place of work to another are often best placed to see alternative methods of working that at times are more efficient - locum general practitioners (GPs) tend to be in this category. A tool was developed specifically to obtain quality improvement suggestions to the general practice from the locum GP and vice versa in...
The ligand binding site(s) of the a subunit of integrin a IIb b 3 (GPIIb-IIIa), a prototypic non–I domain integrin, remains elusive. In this study, we have characterized a Japanese variant of Glanzmann thrombasthenia, KO, whose platelets express normal amounts of a IIb b 3 . KO platelets failed to bind the activation-independent ligand-mimetic mAb OPG2 and did not bind fibrinogen or the activat...
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