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Features of Marfan syndrome:

Tall, thin stature - Long fingers - Unusually long arms and legs - Curvature of the spine (Scoliosis) ~ Chest bone that sticks in or out ~ Flexible joints ~ Crowded teeth ~ Nearsightedness ~ Dislocated lenses ~ Stretch marks (not due to pregnancy) ~ Collapsed lung ~ Aortic dilation ~ Aortic dissection ~ Mitral valve prolapse ~ Leaking valves in the heart

Relation of aortic root dilatation and age in Marfan’s syndrome

February 6th, 2007 by Jeanette

Relation of aortic root dilatation and age in Marfan’s syndrome — Aburawi and O’Sullivan 28 (3): 376 — European Heart Journal
Aims The main aim of this study was to describe the age at which pathological aortic root dilation occurs in patients with Marfan’s syndrome (MFS).

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Common Blood Pressure Drug Reduces Progressive Muscle Degeneration in Mice | Huliq: Breaking News

February 4th, 2007 by Jeanette

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Common Blood Pressure Drug Reduces Progressive Muscle Degeneration in Mice | Huliq: Breaking News
Scientists supported in part by the National Institutes of Health’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and National Institute of Neurological Disorders and Stroke (NINDS) have found that that the commonly prescribed blood pressure medication losartan improves muscle regeneration and repair in a mouse model of Duchenne muscular dystrophy (DMD), a devastating disease characterized by rapid progression of muscle degeneration in boys and young men.

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Survey: Issues associated with quality of life among persons with Marfan syndrome

December 5th, 2006 by Jeanette

WVU :: School of Medicine :: Occupational Therapy : Issues associated with quality of life among persons with Marfan syndrome

The purpose of this study is to assess and gain insight into how quality of life is affected by Marfan syndrome. To be eligible as a participant of this study, individuals must be 18 years or older and be diagnosed with Marfan syndrome.

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Oregon Health & Science Univ Will Study Marfan Syndrome, Other Causes Of Aortic Aneurysms - (Medford Article)

October 8th, 2006 by Jeanette

Oregon Health & Science Univ Will Study Marfan Syndrome, Other Causes Of Aortic Aneurysms - (Medford Article)
PORTLAND, Oregon - Oregon Health & Science University will host one of five regional clinical centers for the study of genetically triggered thoracic aortic aneurysms and other cardiovascular complications as part of an initiative funded by the National Heart, Lung and Blood Institute (NHLBI) of the National Institutes of Health.

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Marfan Study Basics - ISV for Healthcare Providers

September 14th, 2006 by Jeanette

Pediatric Heart Network - ISV for Healthcare Providers
Marfan Study Basics

Marfan is a Trial of Beta Blocker (BB) Therapy (Atenolol) vs. Angiotensin II Receptor Blocker (ARB) Therapy (Losartan) in Individuals with Marfan Syndrome (MFS). The target number of participants is 604. The accrual period is approximately 6 years with recruitment to begin in the Fall of 2006.

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Largest Review To Date Of Loeys-Dietz Syndrome

August 27th, 2006 by Jeanette

Largest Review To Date Of Loeys-Dietz Syndrome
At least three severe, potentially fatal genetic diseases leave patients with aortas so flimsy that they can rupture in pregnancy and labor or even lesser activities, often without warning. Beta blockers, curbing exercise, proactive blood vessel surgery and other approaches can be helpful, but their usefulness varies according to which disease and when they’re offered.

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Mutations Distinguish Overlapping Aortic Aneurysm Syndromes - CME Teaching Brief® - MedPage Today

August 24th, 2006 by Jeanette

Mutations Distinguish Overlapping Aortic Aneurysm Syndromes - CME Teaching Brief® - MedPage Today
GHENT, Belgium, Aug. 24 — Not so long ago there was just Marfan’s syndrome as an aortic-aneurysm genetic disorder. Now two others have emerged with overlapping signs and symptoms, and there are clinical implications to sorting the three out.

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Losartan Q and A from the NMF

August 24th, 2006 by Jeanette

Losartan Q & A from the National Marfan Foundation
Hope and optimism resonated throughout the NMF’s Annual Conference, and the buzz increased after Dr. Hal Dietz presented his recently published data about the impact of losartan, an FDA-approved medication, on mice with Marfan syndrome.

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Clinical Trial: Manifestations of Heritable Disorders of Connective Tissue

August 20th, 2006 by Jeanette

Clinical Trial: Manifestations of Heritable Disorders of Connective Tissue

The purpose of this research is to investigate a group of genetic disorders called the Hereditary Disorders of Connective Tissue and describe the health problems associated with these conditions. These disorders and their prominent symptoms include:

  • Marfan Syndrome–vascular dilatation (enlargement) and dissection (a tear in the lining), skeletal abnormalities
  • Ehlers-Danlos Syndrome–soft fragile skin, bleeding problems, joint laxity (looseness), chronic pain
  • Stickler Syndrome–premature osteoarthritis, bifid uvula (a split in the fleshy lobe hanging down from the soft palate), cleft palate, hearing loss, vitreoretinal degeneration (degeneration of the retina and the transparent gel that fills the inner portion of the eyeball between the lens and the retina)

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Congrats, Hal!

October 31st, 2005 by Jeanette

AAAS Announces 2005 Fellows; Three Recognized for Work at JHU: “… and Harry C. Dietz III, a professor of pediatrics in the School of Medicine, for “identification of the genetic basis of Marfan’s syndrome and the influence of nonsense mutations on gene expression….”

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