Transcript: Cystic Fibrosis By: Vincent Stevens A mutation in the CFTR gene causes CF. Disrupts the function of chloride channels. Causes the production of unusually thick mucus. Can block the pancreas from letting enzymes exit, causing digestive problems. CF is a recessive mutation in the gene, meaning that both parents must have it for the offspring to inherit it. Cystic Fibrosis is fairly common in newborn Caucasians 1 in 2,500 to 3,500 newborn Caucasians 1 in every 29 Caucasians have the CF gene 1 in 17,000 African American newborns 1 in 31,000 Asian American newborns Varies in other ethnic groups Cystic Fibrosis usually affects the lungs, pancreas and reproductive organs. Symptoms: Salty taste to skin, higher than normal amounts of salt in sweat, persistent cough, wheezing, repeated lung and sinus infections. The average life expectancy for people with CF is 37 years. Citations "Cystic Fibrosis." genetic home reference. US National Library of Medicine, 1/2008. Web. 12 Dec 2011. <http://ghr.nlm.nih.gov/condition/cystic-fibrosis> "Dr. Dorothy Hansine Andersen." Changing the face of Medicine. National Library of Medicine, n.d. Web. 13 Dec 2011. Andersen, Dr. Dorothy Hansine. N.d. Photograph. nlm.nih.comWeb. 14 Dec 2011. <http://www.nlm.nih.gov/changingthefaceofmedicine/img/portraits/8.jpg> Diagram of Cystic Fibrosis. N.d. Photograph. Pathway GenomicsWeb. 14 Dec 2011. <https://www.pathway.com/images/pages/dna-reports/carrier-diagram.png> "What is Cystic Fibrosis?." National Heart Lung and Blood Institute. National Institutes of Health, 01/06/2011. Web. 16 Dec 2011. <http://www.nhlbi.nih.gov/health/health-topics/topics/cf/> Affects Conclusion Cystic Fibrosis was discovered in 1938 by Dr. Dorothy Hansine Andersen who also developed a test to diagnose it. There are many treatments for this disease, which include enzymes, anti-inflammatory, mucolytics and airway clearance techniques. There is currently no cure for this disease, but millions of people are helping to change that. Treatment What CF does to your body progressive damage to the respiratory system chronic digestive problems Intestines can be blocked Rare liver blockages I chose this condition because sombody that means a lot to me has to go through this, and I am doing everything I can to help them. History
Transcript: Causation What is it? Symptoms What it looks like... Cystic Fibrosis Treatments Treatment for cystic fibrosis aims to prevent and put an end to lung infections, ridding of mucus from the lungs, preventing and stopping intestinal blockages, and advocating proper nutrition. There are also several drugs that can be taken to help treat this disorder. Some of these medicines include antibiotics, mucus-thinning drugs, bronchodilators, and consumption of oral pancreatic enzymes. Cystic fibrosis occurs due to a genetic mutation of a protein responsible for conducting salt into and out of cells. This disorder is recessive. The recessive allele must be inherited from both parents in order for one to obtain this disorder. The severity of the case is determined by how much the gene is mutated. Cystic Fibrosis is a genetic disorder affecting the lungs and digestive system. Cells that are responsible for making mucus, digestive juices, and sweat are affected. These secretions become thick and sticky instead of playing the role of a lubricant. Over time, the substances build up in the lungs and digestive system. Symptoms of cystic fibrosis most commonly include a nonstop cough producing phlem, wheezing, trouble breathing, decreased ability to exercise, lung infection, and enlarged nasal passages and/ or a stuffy nose.
Transcript: Overview: This is a fatal inherited disease caused by a mutation in a gene that leads to the buildup of mucus in the lungs and pancreas . The mucus makes breathing difficult and prevents proper nutrition by blocking the flow of enzymes from the pancreas. If one parent has a unaffected gene they may be a carrier but they are not affected by CF. If two carriers have children they have a 25% chance of having a child with CF. A child has to have a parent that both have the affected gene to get this disorder . CF affects 1 in every 3,200 people. Symptoms: Salty taste to skin Constipation Heart burn or indigestion Coughing or weezing Frequent chest infections Swelling of fingers or toes Failure to gain weight at a normal rate Diagnosis: Found usually when patient is born or as a fetus. The most common test is the sweat test to measure the chloride levels in the sweat. Patients with CF have lower levels in Chloride a chemical that is important in the production of sweat, digestive juices and mucus of normal consistancy. Treatment: Mucolyticis-Thins mucus in lungs so its easier for patientto cough up Bronchodioators- Keeps bronchi open to help patients with breathing Oral Enzymes and Vitamin Supplements-Patients need to take enzymes as pills to absorb nutrients from food. Pain Relievers High calorie fat diet Thumping or Clapping on back for 30 mins twice a day to get musucs loose so they can cough it up Life Expectancy: The average life expectancy is 36.8 years 80% of people with CF live to be adults. Works Cited: Marrieb, E.N. (1994).Essentials of Human Anatomy and Physiology, 4th Ed., The Benjamin Cummings Publishing Company Inc. (pg 434) Frey, R.J., UXL Diseases and Disorders; Vol 2, Gale Cengage learning, 2009. (pg 278-289) All pictures came from the Prezi Database :) By Kerri Goodwin and Shauna Murphy Cystic Fibrosis
Transcript: Cystic Fibrosis Year Found: 1930-1935 Who Found It: Dr. Dorothy Anderson discovered the disease. Swiss Pediatrician, Dr. Guido Fanconi named the disease. Where was it found: Sweden Pattern of Inherence The disease is autosomal recessive, which means that both alleles require a mutation to pass the disease down. RR - Unaffected Rr - Unaffected Carrier rr - Affected Who is more likely to inherit the disorder? In research of the disease in past year, it was shown that caucasians are more likely to inherit the disease. Characteristics of the Disorder Growth Failure, vitamin deficiency, bronchitis, arthritis, osteoporosis, pancreatitis, infertility Prognosis and Treatment There is no cure for Cystic Fibrosis, but one of the most common treatments is respitory therapy. http://wiki.answers.com/Q/What_kind_of_pattern_of_inheritance_of_cystic_fibrosis Rr Rr Rr RR r rr R http://www.aboutcysticfibrosis.com/cystic-fibrosis-history.htm History of the Genetic Disorder Rr RR R http://www.sparkpeople.com/resource/health_a-z_detail.asp?AZ=127&Page=8 Rr Rr http://wiki.answers.com/Q/Who_is_most_likely_to_get_cystic_fibrosis r rr
Transcript: Cystic Fibrosis THE END What is cystic fibrosis th People with cystic fibrosis use these masks of oxygen to help clear up mucus. Treaments The best treament for cystic fibrosis is by geting a laungh transplant. The other best treament is by using an oxygen mask. Like I said earlier Every person inherits two CFTR genes, one from each parent. Children who inherit a faulty CFTR gene from each parent will have cystic fibrosis. Children who inherit a faulty CFTR gene from one parent and a normal CFTR gene from the other parent will carrier cystic fibrosis, but not have it. Cystic fibrosis carriers usually have no symptoms from carriering this. However carriers can pass the faulty CFTR gene on to their children. When you and you spouse both have this faulty gene and pass both on to you children then that's when your children has cystic fibrosis. Cystic fibrosis is a disease that affects your lung, pancreas and liver. It is found in the mucusy part of your body. When you have the disease, the mucul is normally thin and watery and allows organs to stay moist and lubricated gets thick and sticky. How you get cystic fibrosis
Transcript: Photo based on: 'horizon' by pierreyves @ flickr Life Expectancy: 37 Years Cystic Fibrosis Foundation - www.cff.org March of Dimes - www.marchofdimes.com National Heart, Lung, and Blood Institute - What causes it? Cystic Fibrosis is a disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. CF is a life-threatening disorder. Complications: Cystic Fibrosis however, the numbers are rising as technology gets better. Exercising two to three times a week helps your lungs! Although millions of people carry the defective CF gene, most show no symptoms. This is because in order for a person to actually inherit the disorder, both parents must have the defective gene. One in twenty-nine Caucasian Americans have said gene. Most CF patients are diagnosed at the age of 2, while less severe cases aren't diagnosed until 18 years or older. What is it? Drinking plenty of fluids is key, especially during younger ages. Genetics Coping Strategies Treatment: CF is caused by a defective gene that causes mucus to build up in the breathing passages of the lungs, aswell as in the pancreas. Due to this mucus bulid up, people with CF usually suffer life-threatening infections in the lungs and serious digestive problems. www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_what.html > DNAs enzyme therapy to thin mucus and make it easier to cough up > Oxygen therapy may be needed as lung disease gets worse > Pancreatic enzymes to help absorb fats and protein Long-Term Effects Support Groups: > Bowel problems > Chronic respitory failure > Pneumonia > Malnutrition
Transcript: Treatments There is no cure for cystic fibrosis, thus treatments are essential. Treatment Goals: preventing/controlling lung infections, loosening/removing mucus from the lungs, preventing/treating intestinal blockage, and providing adequate nutrition. Medications: antibiotics, mucus-thinning drugs, bronchodilators, and oral pancreatic enzymes. What is Cystic Fibrosis? Also known as, Mucoviscidosis of the pancreas It is a chronic disease that affects the lungs and digestive system. Overview: A defective gene/protein cause the body to produce abnormally thick, sticky mucus that clogs the lungs. It leads to life-threatening lung infections, obstructs the pancreas, and stops natural enzymes from helping digesting and absorb food. Cystic Fibrosis By: Casey Pham Tests Every state in the U.S. now routinely screens newborns for cystic fibrosis. Sweat Test: A sweat-producing chemical is applied to a small area of skin. The collected sweat is then tested to see if it's saltier than normal. Genetic Test: DNA samples from blood or saliva can be checked for specific defects on the gene responsible for cystic fibrosis. Causes The leading cause is a defect in a gene that changes a protein that regulates the movement of salt in and out of cells. The result in the respiratory, digestive, and reproductive systems are thick/sticky mucus and increased salt in sweat. Symptoms Digestive Symptoms: foul smelling, poor growth/weight gain in spite of a good appetite, and difficult bowel movements. Respiratory Symptoms: persistent coughing, wheezing or shortness of breath, a decreased ability to exercise, repeated lung infections. Common Infant Symptom: sweat abnormalities that can lead to heat stroke and salt depletion. Who does it affect? 30,000 children and adults Approximately 1,000 new cases each year The disease can be inherited in an autosomal recessive pattern. More than 10 million Americans are carriers of a faulty cystic fibrosis gene. A majority of those with these genes are unaware of it. More than 70% of patients are diagnosed by age two. The predicted median age of survival is in the late 30s. Cystic fibrosis is most common for: white Northern European ancestry, Hispanics, African-Americans, and some Native Americans. How have we advanced today? In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, research and medical treatment advancements have extended a vast number of children and adults. People with cystic fibrosis are now able to live into their 30s, 40s, and further. References: http://www.cff.org/AboutCF/ http://www.mayoclinic.com/health/cystic-fibrosis/DS00287 http://www.nhlbi.nih.gov/health/health-topics/topics/cf/ http://ghr.nlm.nih.gov/condition/cystic-fibrosis http://emedicine.medscape.com/article/1001602-overview#aw2aab6b2b5aa
Transcript: What causes it? Cystic Fibrosis in General Symptoms How is it Spread? How can it be prevented? Treatments Facts! Facts! Why I chose Cystic Fibrosis Cystic Fibrosis Surviver Doctors design a treatment plan to fit each person's needs. Some treatments include antibiotics, decongestants, bronchodialators (widens breathing tubes), mucolytics (thins mucus), chest physical therapy, excercise, digestive treatment, and lung transplants. Cystic Fibrosis Cystic Fibrosis is a genetic disease caused by an abnormal gene that the person is born with. Cystic Fibrosis runs in my family. No one in my family currently has the disease, we are just carriers of the abnormal gene. Cystic Fibrosis is passed down genetically. In other words, it's safe to be around someone with Cystic Fibrosis. http://www.cbsnews.com/video/watch/?id=4615368n The symptoms of Cystic Fibrosis are chronic cough, salty-tasting skin, loose foul-smelling stools, poor weight gain (even when you eat a lot), ongoing wheezing, or frequent lung infections (such as pneumonia). If you have Cystic Fibrosis, you will never outgrow it. It is a life long struggle for the people infected with it. Every day, four children in the U.S. are diagnosed with Cystic Fibrosis. The only real way to prevent Cystic Fibrosis is to (if you know you carry the gene) get genetic counseling and to decide wether or not to have kids based on the risks. Most people with Cystic Fibrosis die before age 25, and some die within a few months or years of being diagnosed.
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