User:Jo Evangelista/sandbox

Marfan syndrome

Marfan syndrome is a connective tissue disorder. Connective tissue is responsible for supporting and connecting many of the body's structures. Fibrillin-1 protein forms fibers in connective tissue   --Jo Evangelista (talk) 05:46, 5 May 2014 (UTC)I n   addition to  p r o v i d i n g   s t r u c t u r a l   s u p p o r t,   t h e   n o r m a l   f i b r i l l i n - 1   p r o t e i n   a l s o   c o n t r i b u t e s   t o   c e l l   s i g n a l i n g   a c t i v i t y ,   b i n d i n g   t o   t h e   p r o t e i n   t r a n s f o r m i n g   g r o w t h   f a c t o r   b e t a   ( T G F - ≤ ). M i s - r e g u l a t e d  T G F - ≤   h a s   d e l e t e r i o u s   e f f e c t s   o n   v a s c u l a r   s m o o t h   m u s c l e   d e v e l o p m e n t   a n d   t h e   i n t e g r i t y   o f   t h e   e x t r a c e l l u l a r   m a t r i x. R e s e a r c h e r s  n o w   b e l i e v e,   s e c o n d a r y   t o   m u t a t e d   s t r u c t u r a l   f i b r i l l i n ,   e x c e s s i v e   T G F - ≤   a t   t h e   l u n g s ,   h e a r t   v a l v e s ,   a n d   a o r t a   w e a k e n s   t h e   t i s s u e s   a n d   c a u s e s   t h e   f e a t u r e s   o f   M a r f a n   s y n d r o m e. S i n c e  a n g i o t e n s i n   I I   r e c e p t o r   a n t a g o n i s t s   ( A R B s )   a l s o   r e d u c e   T G F - ≤,   A R B s   ( s u c h   a s   l o s a r t a n )   h a v e   b e e n   t e s t e d   i n   a   s m a l l   s a m p l e   o f   y o u n g ,   s e v e r e l y   a f f e c t e d   p e o p l e   w i t h   M a r f a n   s y n d r o m e. I n  s o m e,   t h e   g r o w t h   o f   t h e   a o r t a   w a s   r e d u c e d. [ 3 ] (http://en.wikipedia.org/wiki/Marfan_syndrome).

Sings and Symptoms Symptoms of Marfan syndrome vary from mild to severe. Marfan syndrome can affect one or many parts of the body. Symptoms of Marfan syndrome can express itself at a young age. Alternatively, Marfan syndrome may also express itself later in life. There are some symptoms may worsen with age. There are several symptoms that are consistent across the board. These are telling tale signs that are clear indicators of Marfan syndrome (http://ebsco.smartimagebase.com/marfan-syndrome/view-item?ItemID=62360).

(http://ebsco.smartimagebase.com/marfan-syndrome/view-item?ItemID=62360).
 * Irregular heartbeat, or heart palpitations
 * Difficulty seeing, including but not limited to nearsightedness or farsightedness. vision   loss in both on one eye is also common with Marfan syndrome.
 * Issues with bones, loose joints, curved spine, abnormally long arms and legs usually with long fingers and toes
 * Tall, very thin body. As a result, individuals with Marfan syndrome will always feel cold.
 * speech disorders are common due to high palates and small jaws. As a result, breathing may also be challenging due to the same problems.

Diagnosis Abnormalities due to Marfan syndrome express themselves differently from person to person. Furthermore, abnormalities may also be due to other disorders similar to Marfan syndrome. This is why a proper diagnosis can be challenging in nature. A family medical history and a complete physical exam of the patient are the initial steps. When conducting the physical exam, special attention is paid to body systems commonly affected. An eye exam and a heart test such as an echocardiogram, which produces an ultrasound image of the heart and aorta are common. A chest X-ray, a magnetic resonance scan (MRA) and computerized tomographies are also some tools used to identify common symptoms. Guidelines from the Ghent criteria have been established to facilitate diagnosis (http://swcproxy.swccd.edu:2085/icof_story.aspx?PIN=xma043350a&term=Marfan+Syndrome). If there is a family history of the disorder, a Marfan diagnosis requires the presence of a major criterion in one organ system plus the involvement of another organ system. If there is no family history of the condition, then two major criteria, involving different organs, are required, along with the involvement of another organ. Major criteria include aortic aneurysm, aortic dissection, eye lens dislocation, dural ectasia, and four or more skeletal abnormalities (for example, scoliosis, chest deformities, and long, thin arms and legs) (http://swcproxy.swccd.edu:2085/icof_story.aspx?PIN=xma043350a&term=Marfan+Syndrome)..