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Cystic Fibrosis

Cystic Fibrosis. By: Nneoma Ajiwe and Angie Olutimehin. How you get it (genetics wise). Cystic fibrosis is caused by a defective genes which causes an over-production of mucus. It is a recessive trait, and 1 out of 29 Americans are carriers. Where it is: Chromosome. gene symbol; CFTR

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Cystic Fibrosis

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  1. Cystic Fibrosis By: NneomaAjiwe and Angie Olutimehin

  2. How you get it (genetics wise) Cystic fibrosis is caused by a defective genes which causes an over-production of mucus. It is a recessive trait, and 1 out of 29 Americans are carriers.

  3. Where it is: Chromosome gene symbol; CFTR locus; region q31.2 on the long arm of chromosome 7.

  4. Effects of and Symptoms • thick, sticky mucus builds up in the lungs, digestive tract, & pancreas. Making it easy for bacteria to grow and infections to occur in the lungs. NO BUENO. • mucus also blocks ducts in the pancreas, so digestive enzymes can not reach the small intestine. So the intestine can not absorb protein or fats effectively. • in newborns - delayed growth, failure to gain weight normally, salty-tasting skin, no bowel movements in first 24-48 hours of life • general – coughing or increased mucus in lungs & sinuses, fatigue, nasal congestion caused by nasal polyps, recurrent episodes of pneumonia, sinus pain or pressure. • later in life – infertility (men), repeated inflammation of the pancreas (pancreatitis)

  5. What life is like with it? • A person with cystic fibrosis is susceptible to life threatening lung infections and serious digestion problems. • The mucus and secretions must be cleared from the airways daily with chest percussion and postural drainage, and because of this daily ritual, most family members of the person have to learn how to do so. • They also require regular visits to cystic fibrosis specialist centers for checkups. • Sadly, the life expectancy is only 40 years.

  6. Someone infected with Cystic Fibrosis Plagued by constant infections of the nose, and lungs, people with cystic fibrosis have a weakened immune system, along with numerous complications of many other organs and organ systems.

  7. How it can be treated, prevented The disease its self is incurable, once you have it, you have it for life. The effects can be lessened through treatment for respiratory and nutritional complications : • antibiotics to prevent and treat lung/sinus infections. taken by mouth, inhaled, or injected in veins. • Inhaled medicines to open the airways. DNAs enzyme therapy to thin mucus & make it easier to cough up, hypertonic saline solutions, flu and pneumococcal polysaccharide vaccine yearly, lung transplant in some cases, oxygen therapy may be needed. • special diet high in protein and calories, pancreatic enzymes to help absorb fat and protein, vitamin supplements (A, D, E, K) • care at home – avoiding smoke, dust, dirt, fumes, mold & mildew • The disease can not be prevented.

  8. “Celiac Syndrome” • Cystic fibrosis is one of the most common chronic lung diseases in children and adults. Discovered in the 1930s by Swiss pediatrician Dr. Fanconi, he called it “celiac syndrome”, defined as changes in the pancreas observed in children.

  9. Quick Background Info • Dr. Dorothy Andreson of Babies’ hospital in New York was the first doctor to give the disease its earliest definitive description. • In the 1940s, Sidney Farber and Harry Shwachman connected the disease to abnormal mucus secretion. • Antibiotics (penicillin) became part of the treatment.

  10. More Info! • The sweat test began being used. Developed as a result of discoveries made by Paul di Sant’Agnese during a heat wave in NY. • In 1960s, organizations specializing in research for CF were formed by parents of children with it, and rare adult patients. • 1970s, more specialized clinics arose.

  11. Famous People with Cystic Fibrosis Albert Einstein, Andrew Simmons, Fraser Brown (son of Gordon Brown, UK’s Prime minister) Celine Dion’s niece Karine died from it at 16

  12. WORKS CITED Thanks for watching! • Works Cited: • http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/ • http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cftr.shtml • http://www.aboutcysticfibrosis.com/cystic-fibrosis-history.htm • http://www.historyking.com/Famous-people/Famous-People-With-Cystic-Fibrosis.html • http://www.fountia.com/famous-people-cystic-fibrosis • PICTURES: • http://www.emedicinehealth.com/script/main/art.asp?articlekey=138624&ref=136255 • http://torresbioclan.pbworks.com/w/page/22377092/Cystic%20Fibrosis • http://www.daviddarling.info/encyclopedia/C/cystic_fibrosis.html • http://www.about-child.com/tag/cystic-fibrosis-symptoms • http://www.genetic-diseases.net/cystic-fibrosis/

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