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Marfan syndrome is treated by addressing each issue as it arises and, in particular, preventive medication even for young children to slow progression of aortic dilation. The goal of this treatment strategy is to slow the progression of aortic dilation and prevent any damage to heart valves by eliminating heart arrhythmias , minimizing the ...
Perinatal stroke is a disease where an infant has a stroke between the 140th day of the gestation period and the 28th postpartum day, [1] affecting up to 1 in 2300 live births. [2]
This rare, potentially life-threatening syndrome is typically caused by an angle of 6–25° between the AA and the SMA, in comparison to the normal range of 38–56°, due to a lack of retroperitoneal and visceral fat (mesenteric fat). In addition, the aortomesenteric distance is 2–8 millimeters, as opposed to the typical 10–20. [1]
Treatment of spina bifida during pregnancy is not without risk. [73] To the mother, this includes scarring of the uterus. [73] To the baby, there is the risk of preterm birth. [73] Broadly, there are two forms of prenatal treatment. The first is open fetal surgery, where the uterus is opened and the spina bifida repair performed.
Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: intellectual disability, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus (tall stature with long and thin limbs, little ...
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FBN1 is a 230-kb gene with 65 coding exons that encode a 2,871-amino-acid long proprotein called profibrillin which is proteolytically cleaved near its C-terminus by the enzyme furin convertase to give fibrillin-1, a member of the fibrillin family, and the 140-amino-acid long protein hormone asprosin.
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