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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
          Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
           
        
Population studies from numerous areas in the world have shown that HHT occurs at roughly the same rate in almost all populations: somewhere around 1 in 5000. In some areas, it is much more common; for instance, in the French region of Haut Jura the rate is 1:2351 - twice as common as in other populations. This has been attributed to a founder effect, in which a population descending from a small number of ancestors has a high rate of a particular genetic trait because one of these ancestors harbored this trait. In Haut Jura, this has been shown to be the result of a particular "ACVRL1" mutation (named c.1112dupG or c.1112_1113insG). The highest rate of HHT is 1:1331, reported in Bonaire and Curaçao, two islands in the Caribbean belonging to the Netherlands Antilles.
Most people with HHT have a normal lifespan. The skin lesions and nosebleeds tend to develop during childhood. AVMs are probably present from birth, but don't necessarily cause any symptoms. Frequent nosebleeds are the most common symptom and can significantly affect quality of life.
Several anti-angiogenesis drugs approved for other conditions, such as cancer, have been investigated in small clinical trials. The anti-VEGF antibody bevacizumab, for instance, has been used off-label in several studies. In the largest study conducted so far, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti-angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.
In medicine, hepatopulmonary syndrome is a syndrome of shortness of breath and hypoxemia (low oxygen levels in the blood of the arteries) caused by vasodilation (broadening of the blood vessels) in the lungs of patients with liver disease. Dyspnea and hypoxemia are worse in the upright position (which is called platypnea and orthodeoxia, respectively).
With liver transplantation, the 5 year survival rate is 74%, which is comparable to patients who undergo liver transplants who do not suffer from hepatopulmonary syndrome.
Myxomas are the most common type of primary heart tumor.
The tumor is derived from multipotential mesenchymal cells and may cause a ball valve-type obstruction.
About 75% of myxomas occur in the left atrium of the heart, usually beginning in the wall that divides the two upper chambers of the heart. The rest are in the right atrium, rarely in the left ventricle. Right atrial myxomas are sometimes associated with tricuspid stenosis and atrial fibrillation.
Myxomas are more common in women. About 10% of myxomas are passed down through families (inherited), as in Carney syndrome, where several other abnormalities are observed, such as skin myxomas, pigmentation, endocrine hyperactivity, schwannomas and epithelioid blue nevi. Such tumors are called familial myxomas. They tend to occur in more than one part of the heart at a time, and often cause symptoms at a younger age than other myxomas.
Although a myxoma is not cancer, complications are common. Untreated, a myxoma can lead to an embolism (tumor cells breaking off and traveling with the bloodstream), which can block blood flow. Myxoma fragments can move to the brain, eye, or limbs.
If the tumor grows inside the heart, it can block blood flow through the mitral valve and cause symptoms of mitral stenosis or mitral regurgitation. This may require emergency surgery to prevent sudden death.