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Cystic Fibrosis

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amy w

on 1 October 2012

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Transcript of Cystic Fibrosis

Cystic Fibrosis in Children in Canada (CFCC) by: Amy Wong Background- How it Began
Cystic fibrosis is a genetic gene mutation that affects the respiratory system as well as the digestive system. There is no cure and no way to prevent it. Humans are made with 23 pairs of chromosomes, which are made up of deoxyribonucleic acid also known as DNA. Many people around the world have the CF gene, which is responsible for cystic fibrosis. A person with one CF gene would not show symptoms. However, a CF gene holder can pass the CF gene to the next generation. Cystic fibrosis comes into play when two CF gene holders have a child. Studies have shown that there is a 25% chance that a child with two CF holders as parents could inherit cystic fibrosis. Different mutation in the CF gene can lead to cystic fibrosis, there are about 1,400 possibilities each leading to how severe the mutated gene affects the body. In studies it is found that the majority of the population has been seen in Caucasians and the lowest rate of CF carriers are in Asians CTFR gene also known as the cystic fibrosis transmembrane regulator is made up of 250,000 nucleotides, which are the building blocks for DNA. The DNA from the CFTR gene is then put into messenger molecules called the mRNA gene. These mRNA genes are split into 27 sections and they work together to create mRNA messages that are turned into amino acids. The amino acids are folded into 3- dimensional shapes creating the CFTR protein which can also be used as an ion channel. The normal CFTR gene would allow chloride to diffuse through the epithelial cells. Thus, creating a thin mucus that lines the lungs and digestive system. In a mutated CFTR gene the chloride and water are unable to go through the ion channels because the amino acids would be in a shape that does not resemble a 3- dimensional figure. Since the chloride and water are unable to go through the ion channels, the channels become clogged creating thick mucus. The thick mucus created, begins to affect the lungs pancreas, sweat glands and digestive system resulting respiratory infections and weakened protein. In the respiratory system there is the trachea, bronchi, bronchial tubes, alveoli and cilia hairs. These cilia hair like projections remove dust and dirt to keep the respiratory system clean. However, the thick mucus makes it difficult for the cilia to remove dust and dirt, resulting in extreme coughing and lung infections. Cystic fibrosis affects the exocrine glands which are located all over the body; they control the amount of sweat, mucus and digestive enzymes (amylase, lipase, exopeptidase and trysinogen.) Cause Cause Some symptoms of cystic fibrosis may contain:
frequent coughing
repeated chest infections
abdominal pains
poor weight gain
salty sweat
Decreased levels of protein. Do you have cystic fibrosis? The thick mucus can also result in blockage of important organs. Such as the pancreases, because of this blockage the digestive enzymes are unable to reach their destination and help to digest proteins and fats. The malabsorbtion from the undigested proteins and fats, since these enzymes are unable to reach the small intestine they result in loose stools. About 85 % or Cystic fibrosis patients have pancreatic insufficiency Many children are Born with a illness called Meconium Ileus . Meconium ileus is a result of Cystic fibrosis. Many normal newborns will be born with meconium a thick, dark, mucus in their intestines, which eventually passes. However, when a new born has Cystic fibrosis their dark, sticky like substance is to thick for it to pass through the rectum as a normal newborn’s would. Since the mucus blocks the pancreas, enzymes are unable to reach fat and protein and nutriens is passed through the body. This causes the child not to grow and lacks vitamins A,D ,E and K. IN a new born a swollen belly and abdominal pain would be the result . Another symptom of cystic fibrosis is Salty sweat this result of the chloride and water being unable to diffuse through the epithelial cells, in the sweat glands. This leaves a salty tasting layer on the outer layer of skin. When playing or sweating many children will lose high amounts of body salt, especially on hot days.

Every body shows signs at different times. Some Many need hospitalization due to repetitive respiratory infections, while other may lead a normal life for many years. In the video shown the chloride channel (orange part) does not allow chloride( salt) to pass through,creating a thick mucus to form Explanation Treatment- Diagnosis After a child is born a diagnostic test is taken to determine if the child has cystic fibrosis or not. Due to the clogged ion channels the chloride is built up in the epithelial cells causing sweat to taste saltier. This salty sweat can also determine if a child has cystic fibrosis. IN the test a electrical current carries a chemical called pilocarpine into the skin of the forearm. This chemical helps to activate the sweat glands. After a period of about 30 to 60 minutes the sweat is then collected and tested. If the sweat is tested and has a chlorine level of about 60 then the results are positive for Cystic fibrosis. Treatment- Vest Therapy (High Frequency Chest Wall Oscillation There is no known cure for Cystic fibrosis so far. However, there are many available treatments that are available. One option is the Vest Therapy (High Frequency Chest Wall Oscillation which is a vest that simulates mini coughs. This vest is designed t wrap around the waist and chest area. IT inflates and deflates pushing air through the boy. This as a valid treatment for Cystic fibrosis because it helps the thick, sticky mucus detach from the airway walls. After detaching the mucus the air pushes the mucus into a larger section of the respiratory system, such as the trachea, for the mucus to be coughed out. NOTE to Parents Treatment Some of these tips will help your child live a normal life given the certain circumstances:
•Parents- stay away from smoking in the presents of a child with CF
•Flu shot is recommended
•Parents should add salt to a Child's food in hot weather or when physically active
•Regular antibiotics-to strengthen muscles
•look beyond the disease to understand why or what you can do to help your child
receive enzymes to help your child digest food easier
Inhalers are also a very versatile item to use when it comes to treating respiratory illnesses. There are two different kinds of inhalers that are available for use. A meter dose inhaler sprays out mist as opposed to a dry powder inhaler which sprays powder. These inhalers spray bronchodilator which is a medicine that helps to open up passage way in the lungs, making it easier for the spray or powder to reach the effected area. Treatment How to use:
1) remove cap from inhaler
2)shake inhaler
3)tilt head back and place lips over the spacer
4) press button to release dose and suck in
5)Hold breath for 10 seconds A common thing to find in Cystic fibrosis is repetitive respiratory infections. These infections can be mild and fixed with antibiotics. However, they can also be very deathly and may put a person in the hospital. These respiratory infections are so common because the thick mucus created layer over top of the cilia.Trapping dirt and dust in the lungs, avioli and bronchi. This mucus acts a a net and is breeding ground for bacteria such asaphylococcus aureus and/or Pseudomonas aeruginosa to grow and multiply in the lungs. The cilia, which would usually remove unwanted substances are also caught in the mucus making it difficult for the cilia to do their job. Respiratory Infections Facts and Figures about 60 % of the Cystic fibrosis population is diagnosed by the time they are one
Over 1,800 mutated CFTR genes have been found, the majority of Canada's CF population carries the same kind of mutation ΔF508
One person with Cystic Fibrosis dies every week
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