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Lesions lips, patient with hemorrhagic hereditary telangiectasia. Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
The most frequently observed problems related to a cerebral arteriovenous malformation (AVM) are headaches and seizures, cranial nerve afflictions including pinched nerve and palsy, [2] [3] backaches, neckaches, and nausea from coagulated blood that has made its way down to be dissolved in the cerebrospinal fluid.
The reason for this is that there is a clear association between leg telangiectasia and underlying venous reflux. [12] Research has shown that 88–89% of women with telangiectasia have refluxing reticular veins close, [13] and 15% have incompetent perforator veins nearby. [14]
Intracerebral hemorrhage (ICH), also known as hemorrhagic stroke, is a sudden bleeding into the tissues of the brain (i.e. the parenchyma), into its ventricles, or into both. [ 3 ] [ 4 ] [ 1 ] An ICH is a type of bleeding within the skull and one kind of stroke (ischemic stroke being the other).
With good blood pressure control and medication compliance, the 5-year survival rate of patients with hypertensive crises approaches 55%. [1] The risks of developing a life-threatening disease affecting the heart or brain increase as the blood flow increases.
Timo Krings is a German neuroradiologist [1] known for his contributions to the fields of diagnostic and interventional neuroradiology. [2]He is currently the chair of the Division of Neurointerventional Radiology and director of the Neurovascular Center at the Lahey Clinic and Beth Israel Lahey Health in Boston and a full professor of radiology at UMass Chan School of Medicine.
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [1] is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. [2] A–T affects many parts of ...
The human endoglin gene is located on human chromosome 9 with location of the cytogenic band at 9q34.11. [6] [7] Endoglin glycoprotein is encoded by 39,757 bp and translates into 658 amino acids.