Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions.
Marfans occurs evenly in men and women and can be inherited from just one parent. Marfan syndrome is also referred to as...
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...sures (Milewicz, 2005). Acute dissection may be accompanied by all of the classic signs and symptoms similar to that of a heart attack, or it may be clinically silent. In an effort to decrease the mortality rate of patients suffering from Marfans and have a potentially high risk of aortic dissection, current studies are investigating the safety and practicality of endovascular stent graft repair.
Endovascular stent graft repair is designed to help reinforce a weakened aorta. Endovascular surgery is performed inside the aorta using thin, long tubes called catheters to place a stent surrounded with a fabric liner. Endovascular stent grafting uses an endovascular stent graft to reinforce the wall of the aorta and to help keep the damaged area from rupturing and developing into a potentially serious health problem that can be fatal and cause massive internal bleeding.
Transcatheter aortic valve replacement or TAVR is the latest technology used principally for the treatment of aortic stenosis, a condition in which one of the major valves of the heart, the aortic valve, becomes tight and stiff, usually as a result of aging (3). Since many patients who need aortic valve replacement for aortic stenosis are too sick to undergo major valve replacement surgery, they are unable to get the treatment they need. With the transcatheter aortic valve, this issue is bypassed because this valve can be implanted in the heart by accessing the patient’s heart through an artery in the groin. The valve can be inserted through a wire that can be pushed to the heart, and the old valve is simply pushed to the side when the new valve is implanted. This technology has been in use in the US with Edwards’ Sapiens valve since 2011 and has saved the lives of many patients with aortic stenosis (4).
According to “Heart Disease and Marfan Syndrome” (n.d.) Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, a part of connective tissue that contributes to its elasticity and strength. It is also stated that Marfan syndrome is mostly inherited from a parent, but 1 in 4 cases occurs when the patient has no known family history of the disease. To add, the condition occurs
In more severe cases, a surgical procedure known as endarterectomy is suggested. An edarterectomy is an operation used to widen the carotid artery. This is usually an option if it has been determined that the internal carotid artery is narrowed by more than 70% and if the person in question has been displaying stroke-like symptoms during the previous six to eight months. This surgery is usually used to prevent the future risk of a stroke. This procedure has been shown to prevent blockage of the internal carotid artery over time and usually involves removing fatty deposits and clots in this important artery.
Caetlin Asher Spanish 325 10 March 2017 Lack of Separation Between the Church and State The separation between state and Church has been a controversial issue for decades. In the movie “Mar Adentro”, this separation between Church and state, or lack thereof, is brought to attention through the court battle between the state and Ramón Sampedro. Ramón Sampedro was a sailor who became a quadriplegic during an accident diving into the ocean water causing a permanent spinal cord injury leaving him paralyzed. Over twenty years of being paralyzed from the neck down, Ramón decides to receive legal permission to end his life through assisted suicide, specifically Euthanasia.
Osgood-Schlatter Disease or syndrome (OSD) is an irritation of the patellar ligament at the tibial tuberosity (Dhar). Osgood-Schlatter Disease is claimed by some to not actually be a disease (Sims). But is rather a collection of symptoms that involves the tibial tubercle epiphysis (Sims). Osgood-Schlatter Disease affects as many as 1 in 5 adolescent athletes (Diseases and Conditions: Osgood-Schlatter Disease). Some other common names for this disease are Osteochondrosis, Tibial Aponphysitis, Tibial Tubercle Apophyseal Traction Injury, Morbus Osgood- Schlatter, and Rugby Knee (Dhar). “This can cause multiple sub-acute avulsion fractures along with inflammation of the tendon, leading to excess bone growth in the tuberosity and producing a visible lump which can be very painful when hit (Dhar). Activities such as kneeling may irritate the tendon further (Dhar).”
..., Welsh R, Feindel C, Lichtenstein S. Transcatheter aortic valve implantation: a Canadian Cardiovascular Society position statement. Can J Cardiol. 2012;28:520-8.
Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by early onset contractures of the elbows, achilles tendons and post-cervical muscles with progressive muscle wasting and weakness It is also associated with heart complications like cardiomyopathy and arrhythmia which in both cases can lead to death. Cardiomyopathy is a heart disease which affects the muscles of the heart. In cardiomyopathy is muscles get rigid, enlarged or thick. They also sometimes changed by scar tissues. On the other hand arrhythmia is a disorder with the rhythm or rate of heartbeat. The heart can beat fast, which is called tachycardia or it could be beating too slow, which is called bradycardia. Emery-Dreifuss muscular dystrophy is characterized by early onset of contractures and humeroperoneal distribution. Humeroperoneal refers to effects on the humerus and fibula. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.
The aorta is the largest artery in the body, responsible for the transfer of oxygenated blood from the heart to every organ of the body. Understandably, any disruption in the integrity of the aorta could have catastrophic consequences. An aortic dissection occurs when a tear in the inner layer of the aorta develops. As the tear expands, blood will eventually begin to spill out of the tear and continue down the aorta in between the inner layer and outer layer. As the inner and outer layers begin to separate from each other, they develop into what is called a true and false lumen. An aorta can dissect in various ways. Those different types of dissection are then classified as Type A, B and Type I through III. Type A involves the ascending aorta. Type B does not involve the ascending aorta2. Type I involves the entire aorta, Type II involves only the ascending aorta, and Type III originates in the descending aorta and extends distally and does not involve the ascending aorta or arch.2 Dissections that originate in the descending aorta and then progressively dissect proximally are still considered Type III.
1. James suffers from a condition called Duchenne muscular dystrophy. Explain the full meaning of this name.
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
Duchenne Muscular Dystrophy, also known as DMD, is the most common form of muscular dystrophy. Muscular dystrophy is a condition that is inherited, and it is when muscles slowly become more and more weak and wasted. Duchenne muscular dystrophy is a form of muscular dystrophy that is very rapid and is most commonly found in boys. In muscle, there is a protein named dystrophin. Dystrophin is encoded by the DMD gene. When boys have Duchenne muscular dystrophy, they do not produce enough dystrophin in their muscles. This causes weakness in their muscles. Parents can tell if their child has duchenne muscular dystrophy by looking for various symptoms.
Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.
There are many life factors that can affect a person’s development and growth these inculde, genetic, biological, environmental ,socioeconomic and lifestyle factors. Genetics is the science of genes, heredity, and the variation of organisms. Also half of our chromosome come from our mother and the other half from your father. The gentic disorders are illnesess caused by the abnormalities in the genes or chromosomes. Down’s syndrome is an example of genetic disorder. Biological disorders are when something is physically wrong with the body or causes problems with the boddy, cancer is an example of biological disorder. These conditios can affect a person’s physical, intelltucal, emotional and social development.
There is no specific treatment for down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Or a Certain heart defect may require surgery depending on how serious it is. Obesity can be a problem in older kids or adults so they need to keep active but before they do so they have to get their hips and neck examined. Behavioral discipline can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that will occur. Parents should learn to help a person with Down syndrome deal with frustration and anger. Although, it is important to encourage independence.