The gene involve in the process is called dystrophin (DMD) gene. The dystrophin gene is the largest gene found in nature and is the one that produces a protein called dystrophin. This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. The dystrophin gene is inherited in families as X-linked recessive, in which case the offspring of the original carrier would have a very small chance of inheriting the trait (Kliegman , Bethrman , Jenson, Stanton 168). In figure 3 we can see the process of a mother transmitting the disease to a new born body.
If you inherit only one affected gene than you will not have Cystic Fibrosis but you will be a ‘carrier’. One in twenty Caucasians are carriers of Cystic Fibrosis. Almost 90% of Cystic Fibrosis cases are caused by a mutation called DeltaF508. The mutated genes cannot manufacture a protein called CFTR (cystic fibrosis transmembrane conductance regulator) correctly. The CFTR protein allows chloride ions to exit mucus producing cells and water molecules to follow the chloride ions out.
In the United Kingdom cystic fibrosis is a very common disease, and the cystic fibrosis trust claims that around 8,000 people suffer from it in the United Kingdom. The cystic fibrosis trust also claims that over two million people in the United Kingdom are carriers of the gene that causes the disease. They estimated that around one in every twenty five people carry this defective gene. In the United Kingdom causasian people with cystic fibrosis have a life expectancy of around thirty one years old. But with a baby born today with cystic fibrosis the chances are that they could live much longer,due to the improvements which are being made medically.
Chrohn’s disease can appear at any age, but is most dangerous in adults in their 20’s and 30’s. Approximately 30% of people with this disease develop symptoms before 20 year of age. In the United States, about 100,000 teens and preteens have Crohn’s Disease.Crohn’s Disease is also called Inflammatory Bowel Disease, or IBD. It can occur anywhere in the digestive Tract, from mouth to anus.There are times when the symptoms reappear or get worst and other periods when symptoms get better or go away altogether. While Crohn’s disease causes many problems for people of all age, it presents special challenges for children and teens.
While there is no known cure for Crohn's disease, therapies can greatly reduce the signs and symptoms of Crohn's disease and even bring about long-term remission. With treatment, many people with Crohn's disease are able to function well (Mayo Clinic Staff, 2011). Crohn’s disease is a chronic inflammatory condition with a relapsing-remitting disease course. Treatment often requires both induction and maintenance strategies. The management of mild to moderate Crohn’s disease is challenging because the natural history of mild disease is not known and effective treatment options are limited (Wong & Bressler, 2008).
I will also give lifestyle choices you can make in your life to decrease your modifiable risk factors for this disease. By the end of this paper I hope everyone will have a better understanding of Multiple Sclerosis and know the risk factors and ways for a person that does have M.S. to live they life. According to the National Multiple Sclerosis Society, Multiple Sclerosis is a chronic, often disabling disease that attacks the central nervous system (CNS), which is made up of the brain, spinal cord, and optic nerves. Symptoms may be mild, such as numbness in the limbs, or severe, such as paralysis or loss of vision.
Although cancer is one of the most destructive of illness in the world, current rate of data are available on its prevalence and risk for mortality. Rhabdomyosarcoma is of the most common sarcomas that develop in children and young adult with a prevalence of 4 to 6% of malignance (1-Hemida2012). Rhabdomyosarcoma (RMS) is a cancer malignant neoplasm originate in the skeletal muscle. The body has 3 main types of muscles. 1) Skeletal (voluntary) muscles are muscles that we control to move parts of our body.
This particularly mutation deactivates POT1, which protects the ends of chromosomes. Another gene, CDKNZA/p16, which is located on chromosomes causing the loss of tumor suppressing genes. This causes the size of tumors to increase. This type of gene mutation accounts for thirty to forty percent of most melanomas.
Data, Information, Knowledge, and Wisdom Congestive heart failure (CHF) is very serious chronic condition with a high mortality and morbidity rate among the elderly population. According to the Centers for Disease Control and Prevention, approximately 5.7 million people have heart failure and there are 550,000 million people newly diagnosed each year in the United States. In addition, approximately 287,000 deaths a year are related to heart failure (CDC, 2012). Today, ED physicians want to quickly and accurately identify patients with suspected CHF in order to confirm diagnosis, determine the cause, severity, and treatment. Brain natriuretic peptide (BNP) is a hormone in the blood that is secreted by the ventricles and atria in response to cardiac overload.
An ischemic stroke is usually characterized by a reduction or obstruction of blood supply to the brain due to blocked blood vessels caused by atherosclerosis or a blood clot. Up to twelve percent of ischemic strokes often cause death within thirty days and is among the largest health burdens in developed countries. It is worth noting that the epidemiology of stroke has been changing because of several factors, with the most important being an ageing population, as well as advancements in the treatment of the condition. Stroke prevalence is projected to increase globally as the population of individuals aged above sixty-five years augments (Ovbiagele et al., 2013, p. 2363). Ovbiagele et al.