SINDROME DE MARFAN EBOOK

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Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of. Síndrome de Marfan é livro que procura evidenciar o pouco conhecimento da comunidade médica sobre a suspeição e o diagnóstico, além de trazer os. El síndrome de Marfan es un trastorno hereditario poco frecuente del tejido conjuntivo que ocasiona anomalías en ojos, huesos, corazón, vasos sanguíneos, .


Sindrome De Marfan Ebook

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Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which .. "The revised Ghent nosology for the Marfan syndrome" (PDF) . Marfan syndrome is a heritable disorder of the connective tissue with an estimated prevalence of 1 in individuals and no predilection for either sex. Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene.

According to Dr. Axe, foods that may help keep your blood pressure lower include pomegranate juice, spinach, coriander , pistachios, beetroot juice, olive oil, dark chocolate, flax seed, celery, tomatoes, purple potatoes, sesame oil and hibiscus tea.

Optimize your vision Taking care of your eyes before serious problems develop can make it easier to maintain your vision longterm.

Marfan syndrome: current perspectives

You may also be able to catch complications, such as glaucoma, before they cause serious damage. You can naturally optimize or protect your vision by: 9 Getting yearly eye exams.

Tell your optometrist or ophthalmologist about Marfan syndrome and, if necessary, find an eye doctor who specializes in caring for people with connective tissue disorders. Eye exams may reveal important information about your eye health and your blood vessel health. Correcting your vision. Get contact lenses or glasses to correct your nearsightedness. Acting quickly when vision changes. If you start to notice symptoms of eye problems, such as a change in vision, lazy eye, cloudiness, pain in your eyes or other symptoms, call your eye doctor immediately.

Protecting your eyes during activity. Your eyes may be more likely to suffer problems such as retinal detachment, which requires surgery to fix. Avoid sports that can result in head trauma football, boxing, diving. High-impact work or activities should also be avoided jackhammers, rollercoasters, trampoline jumping. When you do other activities, wear eye goggles and a helmet. Take care of your bones and teeth The skeleton and teeth may be the most visual signs of Marfan syndrome.

In addition to getting regular checkups from an orthopedist and dentist, you can take steps to promote your bone and teeth health.

Some of these steps may help stop symptoms from worsening, while others may benefit you by improving your self-image and confidence. Maximize bone health. Many people with Marfan syndrome have low bone mineral content and density.

They may benefit from strategies to identify and correct problems with skeletal health. Marfan syndrome can cause skeletal problems such as scoliosis. To keep scoliosis from getting to the point of requiring surgical correction, use a brace or other strategies to support your spine and promote good posture. Get a nutritional assessment. You can talk with an orthopedic specialist, a dietitian familiar with Marfan syndrome or another health care expert to make sure you are getting the nutrients you need for strong, healthy bones.

Eat a diet to support healthy bones. Ask about supplements. Vitamin D, calcium and other supplements that support bone health may help you improve your bone strength and mineral content. Talk with your doctor before starting new supplements. Take care of your teeth.

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Patients with Marfan syndrome are at an increased risk of cavities , gingivitis, misaligned or crowded teeth and other dental problems, such as impacted teeth. To help reduce your chances of poor dental health and appearance, go to the dentist at least once every six months for a professional cleaning and consultation. Following good dental hygiene can help reduce the chance of cavities and gingivitis.

You can also reduce your risk of complications such as endocarditis a heart infection by keeping your mouth clear of harmful bacteria. This means avoiding drinks and foods high in sugar, such as soda and candy. You should also avoid highly acidic foods. Consider orthodontics. Dental appliances such as braces may be able to align teeth, and procedures such as extraction may help reduce visible crowding. Many people find that improvements in the appearance of their teeth improves confidence and self-image.

Reducing crowded or misaligned teeth can also help reduce plaque buildup and jaw or bite pain. Make the most of your differences People with Marfan syndrome often have a body type characteristic of the disorder.

They are often tall and thin, with an arm span longer than their height. Many people have loose joints and long fingers and toes. Because self-image can be important to emotional health, the Mayo Clinic suggests cosmetic concerns be addressed.

The Marfan Foundation suggests tips such as low-rise jeans, drop-waist tops, long tunics and leggings for girls, and polo shirts, relaxed or roomy jeans, and pushed or rolled-up sleeves for boys. Focus on what you can do. Recommended activities for people with Marfan syndrome include skating, snorkeling, brisk walking, bowling and golf.

Doubles tennis and stationary bikes are also good options, and in some cases, hiking, swimming laps, jogging and touch football may even be considered safe. Talk with your doctor to find out which sports options may be a good fit.

Get emotional support Marfan syndrome can negatively impact social function, general health, bodily pain, and physical roles, creating a reduced health-related quality of life.

DIAGNOSIS AND DIFFERENTIAL DIAGNOSIS

The disorder increases your risk for lung problems, and smoking makes your chance of lung problems even worse. If blood pressure gets too high, the risk of aortic complications increases.

An aortic dissection is most often fatal and presents with pain radiating down the back, giving a tearing sensation. Because underlying connective tissue abnormalities cause MFS, the incidence of dehiscence of prosthetic mitral valve is increased.

Lungs[ edit ] Pulmonary symptoms are not a major feature of MFS, [13] but spontaneous pneumothorax is common. The lung becomes partially compressed or collapsed.

This can cause pain, shortness of breath, cyanosis , and, if not treated, death. Other possible pulmonary manifestations of MFS include sleep apnea [15] and idiopathic obstructive lung disease.

It can be present for a long time without producing any noticeable symptoms.

Marfan Syndrome (+ 7 Natural Ways to Manage Symptoms)

On X-ray , however, dural ectasia is not often visible in the early stages. A worsening of symptoms might warrant an MRI of the lower spine.

Dural ectasia that has progressed to this stage would appear in an MRI as a dilated pouch wearing away at the lumbar vertebrae.

Most individuals with MFS have another affected family member. Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency.

Pathogenesis[ edit ] Micrograph demonstrating myxomatous degeneration of the aortic valve, a common manifestation of MFS Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15 , [21] which encodes fibrillin-1 , a glycoprotein component of the extracellular matrix.

Fibrillin-1 is essential for the proper formation of the extracellular matrix, including the biogenesis and maintenance of elastic fibers.

The extracellular matrix is critical for both the structural integrity of connective tissue, but also serves as a reservoir for growth factors. It can also be caused by a range of intravenous crystal treatments in those susceptible to the disorder.

A transgenic mouse has been created carrying a single copy of a mutant fibrillin-1, a mutation similar to that found in the human gene known to cause MFS.

This mouse strain recapitulates many of the features of the human disease and promises to provide insights into the pathogenesis of the disease. Reducing the level of normal fibrillin 1 causes a Marfan-related disease in mice. The levels of asprosin seen in these people were lower than expected for a heterozygous genotype, consistent with a dominant negative effect.Dural ectasia that has progressed to this stage would appear in an MRI as a dilated pouch wearing away at the lumbar vertebrae.

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Optimize your vision Taking care of your eyes before serious problems develop can make it easier to maintain your vision longterm. Lungs[ edit ] Pulmonary symptoms are not a major feature of MFS, [13] but spontaneous pneumothorax is common.

The FBN1 gene, which is made of 66 exons, is located on chromosome 15q To keep scoliosis from getting to the point of requiring surgical correction, use a brace or other strategies to support your spine and promote good posture.