Thrombosis, or the formation of a blood clot, occurs usually due stasis or trauma. Damage to the lining of the blood vessel begins the process of clot formation. The blood clot ultimately creates a narrowing in the artery preventing adequate blood flow and oxygen to the tissue further down. Diagnosis
Diagnosing or identifying peripheral artery disease requires history of symptoms and a physical exam followed by confirmatory testing. These tests could include CT scans (Computed Tomagraphic Angiography), MRA scans (Magnetic Resonance Angiography), or ultrasounds for imaging.In the setting of symptoms consistent with peripheral artery disease a physician will then examine an individual for specific exam findings. Abnormal physical exam findings can lead a health care provider to consider a specific diagnosis. However, in order to confirm a diagnosis, confirmatory testing is required.These findings are associated with peripheral artery disease:
Decreased or absent pulses
Muscle atrophy or wasting
Noticeable blueness of the affected limb
Decreased temperature (coolness) in affected limb when compared to the other
Thickened nails
Smooth or shiny skin and hair loss
Buergers test can check for pallor when the affected limb is in an elevated position. The limb is then moved from elevated to sitting position and is checked for redness, which is called reactive hyperemia. Buergers test is an assessment of arterial sufficiency, which is the ability of the artery to supply oxygenated blood to the tissue that it goes to. Nonhealing lower extremity woundIf peripheral artery disease is suspected, the initial study is the ankle–brachial index (ABI).
Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania, hypersexuality and violence), sleep disorders and mood swings. It was identified in fourteen males from one family in 1993. It has since been discovered in  additional families. Signs and symptoms
Causes
Brunner syndrome is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and norepinephrine (noradrenaline). In both mice and humans, a mutation was located on the eighth exon of the MAO-A gene, which created a dysfunctional MAO-A gene. The regular function of MAO-A, breaking down monoamines, is disrupted, and monoamines build up within the brain. Mice that lacked a functional MAO-A gene displayed higher levels of aggression, in comparison to mice with a functional MAO-A gene. Diagnosis
Upon suspicion of Brunner syndrome and after having eliminated other potential suspects via means of differential diagnosis, Brunner syndrome is diagnosed by genetic testing for specific mutations of the MAOA gene. Since the syndrome is so rare, it is usually only suspected and tested for if there are other diagnosed instances of the syndrome in ones direct family. Treatment
Progesterone & Rauwolfia serpentina (containing Reserpine) are a possible treatment as they both increase MAO-A activity. History
Brunner Syndrome was described in 1993 by H.G. Brunner and his colleagues upon the discovery of a particular genetic defect in male members of a large Dutch family.