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Cystic fibrosis full report
Research papers on cystic fibrosis
Cystic fibrosis full report
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Abstract: The main goal of this paper is to explain what Cystic Fibrosis is and also to explain what the causes of Cystic Fibrosis are. Cystic Fibrosis is caused by a mutation in a gene called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Cystic Fibrosis is known as one of the most common life-shortening disease. More that 1,000 mutations in the CFTR gene have been found in people with Cystic Fibrosis. Most of these mutations change single protein amino acids in the CFTR protein and it deletes a small amount of DNA from the CFTR gene. I am going to explain what happens when the CFTR proteins is functioning normally and when it is diseased. Introduction: What is Cystic Fibrosis? Cystic Fibrosis is a genetic disorder that affects the exocrine gland of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure. Thick mucus and less competent immune system are the results for lung infection. Less secretion of the pancreatic enzymes is the main cause of fatty diarrhea, poor growth, and the lack in fat-soluble vitamins [1]. So far there is no cure for cystic fibrosis. In the United States 1 in 3,900 children are born with Cystic Fibrosis. Most of the people who have CF die at young age, many of them in their 20s and 30s due to lung failure, but with the introduction of new treatments the life of persons with CF is increasing to ages as high as 40 or 50[1]. Results: Cystic Fibrosis is caused by a defect in the gene called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) [2]. The gene makes a protein that controls the water and salt that come in and out of cells. When the protein is working normally the body produces mucus, sweat, saliva, tears, and dig... ... middle of paper ... ...inhaling antibiotics that are used to treat chronic and acute affections. [1]. Lung transplantation has become increasingly common for people wit Cystic Fibrosis. Liver transplant have also been successfully with patient with end of liver disease. Scientist are trying to find a way to keep the ion channel open longer in order to allow more time for ion exchange. A few attempts of gene therapy were successful, but failed to produce a long term result [6]. Literature Cited: www.Wikipedia.org [1] www.Chronicillness.suite101.com/article.cfm/what_causes_cystic_fibrosis[2] www.ghr.nml.nih.gov/condition=congenitalbilateralabsenceofthevasdefiniton[3] www.ionchannels.org [4] www.google.com/images [5] www.respiratory-lung.health-cares.net/cystic-fibrosis-complications.php [6] http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cftr.shtml [7]
Membranes are involved in Cystic Fibrosis when it comes to the genes that are prone to the disease. In a regular functioning body, the CFTR gene helps make the channel that transports charged chloride ions into and out of cell membranes. In a body with cystic fibrosis, the chloride channels don’t function properly, and do not allow chloride ions into and out of the cell membranes, causing the thick mucus (as mentioned earlier) to be produced. The concentration gradients are involved when it comes to moving these molecules and ions across the cell membranes with passive and active transport. Passive transport substances move down concentration gradients while active transport substances move against their concentration gradients (keep in mind this is in a healthy functioning body). With cystic fibrosis, there is a defect in the transport protein, which does not move through the concentration gradient
Cystic Fibrosis (CF) Pathophysiology: Cystic fibrosis is a genetic disease of the secretory glands that affects the respiratory and digestive system. It mainly affects the lungs, pancreas, liver, intestines, sinuses, and reproductive organs. Cystic fibrosis affects the cells that produce sweat, mucus, and digestive fluids. Mucus becomes thick and sticky, causing build-up in the lungs and blocking airways, making it easier for bacteria to develop. This prompts repeated lung infections and can cause severe lung damage after some time.
CF is a chronic condition therefore the patients are either seeking medical attention or receiving (sometime involuntarily) a great deal of medical scrutiny and intervention during their lifetime.
In the Shadow of Illness, the book describes different experiences of families who have or had children with cystic fibrosis (CF). CF is an inherited disease that is passed on from the mother or father who is a carrier, but doesn’t have the condition. Doctors have figured that in this scenario, the parents are likely to have a child with CF. Individuals with CF have to take Cotazymes to help the pancreas digest food. If the person does not take these enzymes, the food goes straight through them as diarrhea. Also, the person’s lungs are affected by a thick mucus that must be removed or thinned before it clogs. Doctors recommend the patient to perform daily breathing exercises that prevent the mucus from thickening; for example, swimming
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Those who have relatives diagnosed with Cystic Fibrosis are at an automatic increased risk to have the disease. For example, in order for a child to have cystic fibrosis, their parents must be carriers of the CF gene. “One CF gene fr...
Cystic Fibrosis is an inherited disease characterized by the buildup of thick, sticky mucous that can cause severe damage to the body’s organs. Mucous is usually a slippery substance that lubricates and protects the linings of the airway, digestive system, reproductive system and other organs and tissue. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight-loss. Due to the abnormally thick mucous it can can clog airways, leading to breathing problems and bacterial infections in the lungs. Bacterial infections can lead to coughing, wheezing and inflammation. Overtime these infections can lead to permanent damage in the lungs including the formation of scar tissue, known as fibrosis and cysts in the lungs (Genetics Home Reference, 2013). The symptoms and signs of this disease vary but mostly include progressive damage to the respiratory system and chronic digestive system problems. An individuals’ lungs who are infected by cystic fibrosis have bacteria from an early stage. This bacteria can spread to the small airways, leading to the formation of bacterial micro-environments known as biofilms. Biofilms are difficult for antibodies to penetrate, therefore the bacteria repeatedly damage the lung and gradually remodel the airways, resulting in difficultly to eradicate the infection (Welsh, 1995). Cystic fibrosis patients may even have their airways chronically colonized be filamentous fungi and/or yeasts. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm are blocked by mucous and do not develop properly. As well, women may experience complications in pregnancy. Either the c...
Cystic fibrosis (CF) is a genetic disease which weakens the lung. It is characterised by the development of thick mucus that blocks the lungs, intestines and other ducts or passageways which can cause breathing problems and infections. This mucus also prevents the intestines from properly digesting and absorbing nutrients, such as fat, protein, fat-soluble vitamins and certain minerals, from food which increases the frequency and severity of illnesses and infections, especially of the lungs. As a result, individuals with CF need to eat a diet that is high in calories, fat, protein and fat-soluble vitamin to compensate for this digestion issue. Additionally, extra calories and nutrients are needed to fight infections and keep the
Thomson, Anne H., and Ann Harris. Cystic Fibrosis: the Facts. Oxford: Oxford UP, 2008. Print.
Despite being magical of gene therapy, it is high-risk. Few people got benefits from it, and it has a low rate of success. Prior to the human trial, Batshaw and Wilson had done experiment on animals to ensure the safety. Over 20 experiments have been done on mice but only 12 of them survived at last (Sophia, M. and Kolehmainen, J.D., 2000). More seriously, complicating diseases, which can be more dangerous than genetic diseases, might set in during the treatment period. In December 200...
The causes of Pulmonary Fibrosis vary from a patient’s occupation to their medical conditions. Pulmonary Fibrosis is caused by environmental factors along with genetic factors. Genetics plays a role in the contraction by determining a person’s vulnerability. A person being in an environment with asbestos fibers, silica dust, grain dust, and bird or animal droppings is at risk for this disease. Patients who also have gone through radiation could be at risk depending on how much the lung was exposed and how long it was exposed to the radiation. Medications can also factor in to the cause of the disease. Chemotherapy drugs, heart medications, and some antibiotics have been linked to Pulmonary Fibrosis. A patient’s previous medical conditions can aid in the formation of this disease such as pneumonia, tuberculosis, scleroderma, and systemic lupus erythematosus. Some other known causes are smoking and lung infection.
It is crucial that the affected person applies for a liver transplant. A liver transplant is an operation in which the patient’s damaged liver is replaced with a healthy liver from a donor.¬ There are three main types of liver transplant: orthotopic transplant, the most common type of transplant, where the patient’s liver is replaced by a liver from a deceased donor; living donor transplant, where a living person willingly donates his liver for the patient; and split type of liver transplant: where the liver of a deceased donor is split into the two lobes and given to two recipients, applicable if the patients are an adult and a child (Mandal, n.d.
Organ transplantation is apperceived as one of the most prehending achievements for preserving life in medical history. This procedure provides a means of giving life to patience’s who suffer from terminal organ failure, which requires the participation of individuals; living or deceased, to donate their organs for the more preponderant good of society.
Since its inception, gene therapy has captured the attention of the public and ethics disciplines as a therapeutic application of human genetic engineering. The latter, in particular, has lead to concerns about germline modification and questions about the distinction between therapy and enhancement. The development of the gene therapy field and its progress to the clinic has not been without controversy. Although initially considered as a promising approach for treating the genetic of disease, the field has attracted disappointment for failing to fulfil its potential. With the resolution of many of the barriers that restricted the progress of gene therapy and increasing reports of clinical success, it is now generally recognised that earlier expectations may have been premature.
Gene therapy enables patients to survive incurable diseases. In the field of genetic diseases, ADA-SCID, CGD and hemophilia are three main ones. ADA-SCID is known as the bubble boy disease. CGD is related to immune system that would lead to fungal infections which are fatal. Patients with Hemophilia are not able to induce bold bleeding (Gene therapy for diseases, 2011). Gene therapy also has good effects on cancer treatment and neurodegenerative diseases, which include Parkinson’s disease and Huntington’s disease. Viral infections, including influenza, HIV and hepatitis can also be treats by it (Gene therapy for diseases, 2011). According to the Science Daily in 2011, gene therapy now can apply to heart failures and neurologic diseases as well.