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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 I n a d dition 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).
- 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.
(http://ebsco.smartimagebase.com/marfan-syndrome/view-item?ItemID=62360).
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