نتایج جستجو برای: familial thoracic 1

تعداد نتایج: 2838295  

2017

Pediatric chest wall abnormalities are defined as any structural abnormality affecting the sternum, ribs, musculature, or thoracic spine, which alters the normal structure or limits the function of the thorax [1]. Of these deformities, pectus excavatum and carinatum are the most common sporadic malformations with both physiologic and psychological implications in patients affected. In some case...

Journal: :Circulation 2003
Sumera N Hasham Marcia C Willing Dong-chuan Guo Ann Muilenburg Rumin He Van T Tran Steven E Scherer Sanjay S Shete Dianna M Milewicz

BACKGROUND Familial thoracic aortic aneurysms and dissections (TAAD) occur as part of known syndromes such as Marfan syndrome but can also be inherited in families in an autosomal dominant manner as an isolated condition. Previous studies have mapped genes causing nonsyndromic familial TAAD to 5q13-15 (TAAD1) and 11q23.2-q24 (FAA1). Further genetic heterogeneity for the condition was evident by...

Journal: :international journal of pediatrics 0
khurshid wani government medical college srinagar, india. mohsin rashid government medical college, srinagar, india. musadiq alaqaband government medical college, srinagar, india. shumila manzoor government medical college, srinagar, india. shafia mustaq jamia hamdard hospital, delhi, india.

there are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. the authors report a neonate affected by familial hyperchylomicronemia, while being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. based on this very abnormal lipid profile...

Journal: :Circulation research 2011
Ellen S Regalado Dong-Chuan Guo Carlos Villamizar Nili Avidan Dawna Gilchrist Barbara McGillivray Lorne Clarke Francois Bernier Regie L Santos-Cortez Suzanne M Leal Aida M Bertoli-Avella Jay Shendure Mark J Rieder Deborah A Nickerson Dianna M Milewicz

RATIONALE Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be inherited in families in an autosomal dominant manner. As part of the spectrum of clinical heterogeneity of familial TAAD, we recently described families with multiple members that had TAAD and intracranial aneurysms or TAAD and intracranial and abdominal aortic aneurysms inherited in an autosomal dominant man...

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