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Source: rarediseases.about.com --- 43 days ago
Feature article about Marfan Syndrome, and the debate about whether U.S. President Abraham Lincoln had the disorder. ... Source: www.ncbi.nlm.nih.gov --- 10 hours ago
Related Articles The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan's Syndrome. Thorax. 2008 Oct 13; Authors: Kohler M, Blair E, Risby P, Nickol AH, Wordsworth P, Forfar C, Stradling JR BACKGROUND: Craniofacial abnormalities and increased pharyngeal collapsibility due to abnormal connective tissue suggest the possibility of an increased prevalence of obstructive sleep apnoea (OSA) in patients with Marfan's Syndrome, but the actual prevalence is uncertain. Aortic dilatation and dissection are life-threatening manifestations of Marfan's Syndrome and case reports have suggested a possible association with OSA, but data from cohort studies are not available. METHODS: A sleep study was performed in 61 patients with Ghent-criteria positive Marfan's Syndrome (mean age+/-SD, 38.3+/-12.9, 37 females) and in 26 control subjects matched for age, gender, height and weight. OSA was defined using two conventional levels of apnoea/hypopnoea index (AHI), >5 and >15 per hour. In patients with Marfan's Syndrome aortic root diameter was measured by echocardiography. RESULTS: More patients with Marfan's Syndrome than controls had OSA (AHI >5, 32.8% compared to 11.5%, mean difference +21.3%, 95% CI 4.2-38.3%, p=0.04, AHI >15, 18.0% compared to 0%, mean difference +18.0%, 95% CI 8.4-27.7%, p=0.02). AHI was correlated with aortic root diameter (r=0.50, 95% CI 0.26-0.69, p=0.0003), and mean+/-SD aortic root diamet ... Source: www.buckeyeplanet.com --- 38 days ago
Anyone ever have to deal with this before? Doctors are worried my little brother has it. He was evaluated maybe a year ago, and they said they would be surprised if he had it, but to come back in a year so they can re-evaluate him. (He is 16.) He has a lot of the symptoms, so I was... ... Source: www.healthwatchcenter.com --- 30 days ago
Marfan Syndrome is an inherited connective tissue disorder, which is characterized with skeletal, cardiac, aortic, ocular and dermatological and also dural malformations. It is a very rare disorder and it is estimated that 1 in 5,000 people can have this disorder. Despite of the race, sex, age and ethnicity, Marfan Syndrome can affect [...] ... Source: abclocal.go.com --- 103 days ago
There's a genetic condition that can cause legs and arms to grow faster than normal. ... Source: www.ncbi.nlm.nih.gov --- 7 days ago
Related Articles Aortic dissection in Turner Syndrome. Curr Opin Cardiol. 2008 Nov;23(6):519-26 Authors: Bondy CA PURPOSE OF REVIEW: Turner Syndrome is a relatively common disorder of female development with cardinal features of short stature and congenital cardiovascular defects (CHD). Turner Syndrome is the most common established cause of aortic dissection in young women, but has received little attention outside pediatric literature. This review focuses on emerging knowledge of the characteristics of aortic disease in Turner Syndrome in comparison with Marfan-like syndromes and isolated aortic valve disease. RECENT FINDINGS: The incidence of aortic dissection is significantly increased in individuals with Turner Syndrome at all ages, highest during young adult years and in pregnancy. Pediatric patients with dissection have known congenital cardiovascular defects (CHD), but adults often have aortic valve and arch abnormalities detected only by screening cardiac magnetic resonance. Thoracic aortic dilation in Turner Syndrome must be evaluated in relation to body surface area. Dilation is most prominent at the ascending aorta, similar to the pattern seen in nonsyndromic bicuspid aortic valve, is equally prevalent (20-30%) in children and adults, and does not seem to be rapidly progressive. Cardiovascular anomalies and risk for aortic dissection in Turner Syndrome are strongly linked to a history of fetal lymphedema, evidenced by the ... Source: www.ncbi.nlm.nih.gov --- 1 day ago
Related Articles Histopathologic Findings in Ascending Aortas From Individuals With Loeys-Dietz Syndrome (LDS). Am J Surg Pathol. 2008 Oct 10; Authors: Maleszewski JJ, Miller DV, Lu J, Dietz HC, Halushka MK Loeys-Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder resulting from genetic mutations in the transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2). The Syndrome is characterized phenotypically by hypertelorism, bifid uvula, and/or cleft palate, and arterial tortuosity with aneurysms and dissections. LDS has a much more rapid clinical course than Marfan Syndrome (MFS) and thus those diagnosed with LDS are currently being recommended for prophylactic aortic root replacement at younger ages and with smaller aortic dimensions. Aortic root tissue obtained at surgery was compared between 15 patients carrying a diagnosis of LDS, 11 patients with MFS and 11 control aortas to evaluate the range of histopathologic changes in LDS. Standard hematoxylin and eosin and Movat pentachrome stains were performed. LDS samples had increased medial collagen and a subtle but diffuse form of elastic fiber fragmentation and extracellular matrix deposition, referred to as diffuse medial degeneration. LDS samples had significantly more diffuse medial degeneration compared with MFS and control samples (P<0.05), significantly less medial degeneration of the "cystic" variety compared with MFS (P<0.01) and significantly ... Source: www.ncbi.nlm.nih.gov --- 21 days ago
Related Articles A historical and observational study to expose some etiopathogenetic factors that may be relevant to adolescent idiopathic scoliosis (AIS) in some patients. Stud Health Technol Inform. 2008;140:340 Authors: McMaster ME In 433 consecutive scoliosis patients referred to a Spine Centre 76 were removed after the surgeon made a diagnosis of infantile/juvenile idiopathic scoliosis, congenital scoliosis, congenital kyphosis/Scheuermann's disease, neurofibromatosis, muscular dystrophy, Marfan's or Marfanoid Syndrome, or spondylolisthesis. Next, 209 were eliminated for several reasons including older patients who did not attend with their parents, AIS patients whose mother or father had left the family home, straight spine, low IQ, tip toe walkers, other medical problems, back pain and a family history of scoliosis. The remaining 148 AIS patients were deemed 'healthy' by six criteria (McMaster et al 2006) and classified as:1. Infant swimmers: 96 patients (88 girls 8 boys) taken to an indoor heated swimming pool in their first 12 months (McMaster et al 2006).2. Poor diet: 27 patients (23 girls 4 boys). On questioning texture was the prohibiting factor in the child's inability to tolerate certain foods, resulting in a diet without fruit or vegetables. The food intolerance started at an early age and was established by the age of 5 years (Cheung et al 2006).3. Chin on chest: 7 female patients were unable to place their chin firmly ... Source: www.ncbi.nlm.nih.gov --- 25 days ago
[Loeys-Dietz Syndrome with acute myeloid leukemia] Rinsho Ketsueki. 2008 Aug;49(8):664-7 Authors: Togashi Y, Sakoda H, Sugahara H, Asagoe K, Matsuzawa Y A 54-year-old man, who had been diagnosed with Loeys-Dietz Syndrome based on his past history, family history, clinical findings, and the presence of a gene mutation, was referred to our hospital because of easy fatigability. Anemia, thrombocytopenia, and blasts in his peripheral blood were noted, and 31.4% blasts were found in a bone marrow aspiration. The blasts were positive for myeloperoxidase and esterase staining. Furthermore, karyotype analysis of bone marrow cells showed t(11;19)(q23;p13.1) and MLL abnormality was detected on RT-PCR A diagnosis of acute myeloid leukemia (M4) with 11q23 (MLL) abnormality was made. Loeys-Dietz Syndrome is a Marfan-like congenital connective tissue disorder caused by a heterozygous missense mutation of a TGF-beta receptor I or II gene. The TGF-beta family inhibits the proliferation of normal epithelial cells and induces apoptosis, and is therefore known as a tumor suppressor factor. In this article, we discussed the association between Loeys-Dietz Syndrome with a TGF-beta receptor gene mutation and cancer. PMID: 18800617 [PubMed - in process] ... Source: www.ncbi.nlm.nih.gov --- 43 days ago
Related Articles [Retinal Detachment in Children: Differential Diagnosis and Current Therapy.] Klin Monatsbl Augenheilkd. 2008 Sep;225(9):779-790 Authors: Meier P The number of retinal detachments in children is very low in comparison to the number of retinal detachments in adults, only 3.2 - 6.6 % occur in children. The main predisposing factors are trauma, associated conditions, myopia and retinopathy of prematurity (ROP) i. e., stage 4 and 5 and late stage of ROP. Furthermore, retinal detachment in children can be idiopathic. These eyes are not associated with any identified ocular or systemic comorbidity. Associated conditions include hereditary vitreoretinal disorders (e. g., morbus Stickler, X-linked juvenile retinoschisis, Marfan Syndrome, familiär exsudative vitreoretinopathy), malformations (e. g., persistent hyperplastic primary vitreous, coloboma) and retinal detachment following cataract surgery. In a few cases retinal detachment is caused by uveitis and by Coats disease. Delayed presentation and proliferative vitreoretinopathy are a common problem and in most eyes primary pars plana vitrectomy is necessary. It is important to perform consequent postoperative follow-up. The functional and anatomic outcomes of retinal detachment in children are less successful than in adults. Further surgical innovations and aetiology-specific treatment strategies are required to improve the outcome in this group. Recent results show that th ... Source: www.medicinenet.com --- 104 days ago
Title: Blood Pressure Drug Shows Promise for Marfan Syndrome Category: Health News Created: 6/26/2008 2:00:00 AM Last Editorial Review: 6/26/2008 ... Source: www.eurekalert.org --- 90 days ago
... Source: www.news-medical.net --- 91 days ago
A severe complication of the Marfan Syndrome is that the aorta may split and be torn apart. The patient can be protected if the Syndrome is diagnosed and treated in good time. ... Source: www.bloggernews.net --- 106 days ago
The NYTimes has an interesting photo of Obama on one of their articles. THIS PHOTO. Maybe it’s an optical illusion, but dang, his arm is long, and his fingers are long…and as a doc, it made me stare… No problem. Probably tall and thin, like his father. Several others in his African family have the long thin [...] ...
Source: wbztv.com --- 97 days ago
Local researchers are trying to find treatments for Marfan Syndrome, a potentially fatal genetic disorder. ... Source: www.mysuburbanlife.com --- 43 days ago
A Syndrome often gone unnoticed stole the life of a Westmont man. Now his family will hold a benefit to raise awareness and celebrate his life. Andrea Banke said her husband, Christian, was diagnosed with Marfan Syndrome, a connective tissue disorder. Connective tissue is found throughout the body and provides a framework for growth and development. When a person is diagnosed with Marfan Syndrome, their connective tissue is defective. There are different levels of severity, and if caught early, can be treated. There were no signs Christian had the Syndrome until he went in for open heart surgery Christmas Day in 1998. The doctors told the Bankes that Christian’s aorta was growing larger and larger, which is not normal. It was not until 2002 when an aneurysm in his aorta got to a size where it could rupture that Christian decided to go in for surgery. The next day he died. “The first surgery we had no idea, that was the big shocker,” Andrea Banke said. “The second we knew (he had Marfan Syndrome) and that was elected surgery, and he didn’t survive.” The Banke family decided they needed to raise awareness for the silent killer. Four years ago, they started an awareness benefit that raises money strictly for research and education. This year the benefit will be held at Irish Times in Brookfield. Mary Shutack, family friend, said the Banke family goal is to increase the Syndrome’s visibility so other families don’t go through the same ... Source: www.kmbc.com --- 26 days ago
Dave Rasmussen is 7 feet 4 inches tall. He tells KMBC's Bev Chapman how he finds a car that fits, about his brother and on the condition of Marfan Syndrome in tall people. ... Source: www.reviewstream.com --- 31 days ago
Item: Ibuprofen Location: by Hernandez Review: Ibuprofen is a really good medicine for anyone that has something like a dentist or orthodontist appointment, there’s many different brands for it, but I use the brand that’s just called Ibuprofen. I always get pain in a lot of places since I have Marfan Syndrome, and I also have [...] ... Source: www.medicalnewstoday.com --- 88 days ago
A severe complication of the Marfan Syndrome is that the aorta may split and be torn apart. The patient can be protected if the Syndrome is diagnosed and treated in good time. In the current edition of the Deutsches Arzteblatt International (Dtsch Arztebl Int 2008; 105[27]: 483-91), the human geneticist Mine Arslan-Kirchner from Hannover University Medical School and his coauthors present additional studies on Marfan patients. ... Find more results for Marfan Syndrome on RSSMicro.com |
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America's golden boy, Michael Phelps, has been dominating the world's headlines for his accomplishments in swimming and at the 2008 Beijing Olympic Games. But there is something that you probably don't know about him. Michael Phelps has a rare genetic disorder that has undoubtedly helped in his athletic endeavours, but that may also one day prove to be a curse. That disorder, which affects 1 in 5,000 people worldwide, is called Marfan's Syndrome, a connective tissue disorder which characterized by long limbs and long, thin fingers. Phelps stands 6'4", and has an armspan of 6'7", which is greater than his height. That is a ratio of 1.04, which is just shy of the clinical cutoff of 1.05. He is also said to have hypermobile joints in his knees, shoulders and ankles. In his book, "Michael Phelps: Beneath the Surface" written by both Phelps and Brian Cazeneuve, Phelps describes the Syndrome: read more ...