View notes lecture 2 cystic fibrosis from bimm bimm 100 at university of california, san diego. Download our podcast through itunes, android, or subscribe to our rss feed. Sweat physical activity helps to clear mucus from the lungs. Cystic l is a free email support group dedicated to the exchange of information and support specific to cystic fibrosis. The point is, cystic fibrosis shows up in so many ways throughout the body and going back to the name, why do we call it cystic fibrosis, this is describing the scarring that occurs in the pancreas as a result of the disease, you have these cysts then you have scarring from all the blockage and the damage to the tissue that leads to. Kiran temple university fox school of business 17, course hero intern. People are talking about using phage therapy or virus therapy to kill off antibiotic resistant microbes. Cystic fibrosis is a disorder of abnormal chloride transportation that affects the lungs, reproductive tract, and pancreas and is the most common and devastating congenital cause of upper lungpredominant bronchiectasis. Cystic fibrosis pathophysiology video khan academy. Results from abnormalities in the cystic fibrosis transmembrane conductance regulator cftr chloride channel found in cells lining the lungs, intestines, pancreatic ducts, sweat glands, and reproductive organs. The cystic fibrosiscrispr hololens full educational. Us5240846a gene therapy vector for cystic fibrosis. Jemma wood, 25, with cystic fibrosis cf graduated from university in 2014. He then discusses risks, causes of death, disease progression and various treatments.
Transporting the gene to the target cells or tissue is also problematic. How to get relief from cystic fibrosis the most serious cystic symptoms are difficult breathing and coughing, as result of multiple lung infections due to viscous secretions trapped in lungs. The cystic fibrosiscrispr hololens full educational experience. There are over 1500 known diseasecausing mutations that interrupt various stages of cftr synthesis and function. Definition cystic fibrosis cf is an inherited disease that affects the lungs, digestive system, sweat glands, and male fertility. Nov 25, 2017 cystic fibrosis pathophysiology, genetics, causes, signs and symptoms. It is an autosomal recessive disorder whichmeans that a person must receive two altered cfgenes in order to get this condition. Each year, approximately 1,000 persons in the united states receive a diagnosis of cf. She looks back on her time at university, and how taking time out to take care of herself when she was unwell meant that she made the best decisions for her. A randomised, doubleblind, placebocontrolled trial of repeated nebulisation of nonviral cystic fibrosis transmembrane conductance regulator cftr gene therapy in patients with cystic fibrosis. Find powerpoint presentations and slides using the power of, find free presentations research about cystic fibrosis ppt. Cystic fibrosis, eps10 stock illustration by alila 14 455 cystic fibrosis stock illustration by rob3000 4 274 cystic fibrosis words in dna stock illustrations by iqoncept 3 518 purple awareness ribbon and shadow stock illustrations by mirage3 31 1,559 cystic fibrosis stock illustration by teshimine 1 15 ivacaftor cystic. Much deeper, its a relatable metaphor to the dichotomy of life and its connection to the meaning of a breath. Cystic fibrosis cf is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.
Pestilence as diseaseepidemics in western society since 1600 hist 234 the bubonic plague is the measure by which succeeding epidemics have long been measured. About 30000 thousand american have cystic fibrosis. Cystic fibrosis cystic fibrosis is an inherited disease that causes thick, sticky mucus to build up in the lungs and digestive tract. Maor sauler to discuss the biology behind therapeutic advances for the treatment of cystic fibrosis. Discover what happens in the cells of cf patients that make it so hard for them to breathe.
Said chaaban presents interstitial lung disease by discussing the historical and physical history as well as lung exams. Students with cf may worry about being different from their peers. Find materials for this course in the pages linked along the left. Refugee health and the kentucky global health center with drs. Managing cf the cystic fibrosis center at stanford. The present invention includes recombinant viral and plasmid vectors, alternative cftr gene delivery strategies, and transduced cf cells and. Cystic fibrosis can also affect the sweat glands and the male reproductive system. Cystic fibrosis pathophysiology, genetics, causes, signs and symptoms. View and download powerpoint presentations on cystic fibrosis ppt. Mutation in cftr gene cystic fibrosis transmembrane regulator gene.
Teachers of children with cystic fibrosis can benefit from learning about how the disorder may affect a childs performance in. Nelson, bonnie bedelia, gennie james, danny corkill. So, my gosh, its a long acronym and it stands for, lets write this quickly, cystic fibrosis, so they obviously named this after they named the disease. Background cystic fibrosis, also known as cf is a commondisease that are inherited and mostly found inyoung population.
Cystic fibrosis is a lifethreatening genetic disease that affects the lungs and digestive systems of approximately 30,000 children and adults in the united. I cannot even describe how much course hero helped me this summer. Cystic fibrosis canada education and cystic fibrosis. After graduating she joined a management consulting graduate scheme, where she has worked for the last three years. The cystic fibrosis treatment reminder, and many more programs. Cystic fibrosis cf is a disease of exocrine gland dysfunction caused by genetic mutation on chromosome 7, which results in abnormalities in the production andor function of protein called. The cystic fibrosis foundation is the worlds leader in the search for a cure for cystic fibrosis.
Parents of children with cystic fibrosis may be anxious about whether a school or day care can accommodate their childs special needs. Appropriate and acceptable for many disorders, including cystic fibrosis, muscular dystrophy. Cystic fibrosis and the effects on the kidneys ppt. The function of mucus, cilia in the lungs, the first 3 min 30. A social network just for the cystic fibrosis community. Excessive mucus causes block in the alveoli in the lungs, making breathing very difficult. Introduction to crispr technology intellectual property. Although both the median age of death and expected median survival of persons with cf in the us have steadily increased. In cystic fibrosis the body cells are affected and they produce secretions that are thicker and stickier than usual. Very specifically, were using this in cystic fibrosis patients that get colonized by pseudomonas aeruginosa which is a really nasty bacterium which is resistant to antibiotics. For most people, thick mucus is a temporary annoyance when they get sick.
A genetic disorder caused by inherited mutations in the gene cftr that causes problems in the lungs, digestive track, liver,airways, and many other areas of ones body. Clinical presentation of cystic fibrosis at the time of. Starting preschool or primary school can be an exciting and daunting time for parents, particularly if your child has cystic fibrosis cf. Best of ats video lecture series patient and family education patient education materials development. Cystic fibrosis medical powerpoint presentation free. Commonly found in white populations especially children. Alexandra deford, a precious and precocious girl, was just eight years old when she died in 1980 following a battle against the debilitating effects of cystic fibrosis, the numberone genetic killer of children. Cystic fibrosis cf was first formally described in 1938 by the pathologist dorothy andersen, who recognized a number of patients with characteristic lesions of the pancreas and a clinical syndrome of failure to thrive, diarrhea, and recurrent respiratory infections. Cystic fibrosis foundation accredited care centers provide expert care and specialized disease management to people living with cystic fibrosis. Cystic fibrosis, part 1 introduction, incidence, symptoms. Research the cystic fibrosis center at stanford stanford. Its extreme virulence, horrible symptoms, and indiscriminate victim profile all contributed to making plague the archetypical worstcase scenario. In cystic fibrosis, unusual amount of mucus is allowed to buildup in the lungs and pancreas.
At the surface, three lives is a short documentary about the lifestyles of three individuals diagnosed with cystic fibrosis. Cftr gene cystic fibrosis transmembrane conductance regulator lecture explains about cftr protein and the role of cftr in cystic fibrosis. Good nutrition for a child or adult with cf means more than just eating a balanced, normal diet. Affected organs typically include the lungs, the gastrointestinal tract, the pancreas and the liver. Learn for free about math, art, computer programming, economics, physics, chemistry, biology, medicine, finance, history, and more. Cystic fibrosis, interstitial lung disease, lung disease, ild. Cystic fibrosis is now recognized as the most common lethal genetic disease in the caucasian population, with an estimated 30,000 patients in the united states and 27,000 in europe. Cystic fibrosis pathophysiology, genetics, causes, signs and symptoms duration. Longterm issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Cftr protein is located in the membrane of epithelial cells such as those lining the airways, which establishes a chloride electrochemical gradient, which in turn causes a net movement of chloride ions to the. What happen in cystic fibrosis scientific video and. The present invention comprises gene therapy for treating cystic fibrosiscf. All of the patients had two documented sweat chloride tests. Lecture 2 cystic fibrosis homework for today 1 watch the.
Cystic fibrosis pathophysiology, genetics, causes, signs. Lecture notes molecular biology and genetics in modern. Characterizing aggressiveness and predicting future. We are also pleased to offer cme for physicians in the us and. Bronchiectasis, cystic fibrosis, hemoptysis lecturio. Ppt cystic fibrosis powerpoint presentation free to view. When accommodating a student with cf, you need to expect frequent and extended absences and be willing to spend extra time. Ucla pediatric pulmonologist marlyn woo, md, discusses cystic fibrosis cf, a lifethreatening disease that damages the lungs and digestive system. The purpose of is to share medical documents powerpoints, pdfs, pictures, etc freely, so that premeds, residents, doctors and other medical professionals can benefit and share knowledge.
Data of patients with cystic fibrosis at the time of diagnosis were recorded based on a checklist denoting demographic characteristics, clinical and laboratory features. Delivery and expression of a single copy of a normal cftr gene leads to stable correction of the cl channel regulation defect present in cf epithelial cells. Committed to sharing internal medicine focused lectures as free open access medical education. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. Cystic fibrosis foundationaccredited care centers provide expert care and specialized disease management to people living with cystic fibrosis.
Cystic fibrosis is a recessive genetic disease that is abbreviated cf and also goes by the name mucoviscidosis it affects internal organs by causing thick and sticky mucous to build up in them. Cystic fibrosis cf is a multiorgan genetic disorder, but its clinical outcome involves mostly the respiratory system. This video presents cystic fibrosis, a type of obstructive lung disease. Cf is most common among caucasians of northern european descent, with a disease prevalence of 1 in 3,000 births, and the frequency of being a carrier of a. The slides dont have any watermarks or names or them, so feel free to use them however you want. Managing cf cystic fibrosis is complicated to manage. Using dna and genebased therapy to treat human diseases may sound like sciencefiction, but there are already several gene therapies in use today, for diseases such as muscular dystrophy and cystic fibrosis. Ppt the genetics of cystic fibrosis powerpoint presentation. The frequency of mutant allele heterozygote is greater than frequency mutant allele homozygous. Randell is an associate professor of medicine at the university of north carolina school of medicine and director of the university of north carolina cystic fibrosis center tissue procurement and cell culture core. Members include those with cystic fibrosis, as well as family members, medical professionals, researchers, and more.
Global cystic fibrosis market 20152019 cystic fibrosis also known as mucoviscidosis is a geneticallyinherited disease. In this brainpop movie, tim and moby clear the air about this genetic disease of the respiratory system. Voiceover so the gene thats not working well in cystic fibrosis is called the cftcr gene. But for people with cystic fibrosis, its a way of life. Cystic fibrosis cf is an inherited disease caused by a defective gene, which affects tissues that produce mucus secretions. Cf care center finder we provide funding for and accredit more than 120 care centers and 53 affiliate programs nationwide. Our flagship uk cystic fibrosis conference ukcfc is the largest event of its kind in the uk, and brings together researchers, clinicians, and friends and family of people with cystic fibrosis, to explore all aspects of clinical care and research in cystic fibrosis this years conference took place on 26 and 27 september at the kia oval in. Its name derives from the fibrous scar tissue that develops in the pancreas, one of the principal organs affected by the disease. Physiologypathophysiology of cystic fibrosis edit edit source physiology in epithelial cells of the pulmonary system. Whether youre a parent, or a teacher expecting a new student with cf, the information in our primary and preschool pack is full of useful information and reallife examples of how people have managed the transition, with top tips for. Setting the story within a body affected by cystic fibrosis allowed us to visualize the science over a wideranging scale, from the exterior.
A comparison of the acute effects of two hand held percussive devicesthe electroflo 5000 and the g5 flimmfighter, for airway clearance in patients with cystic fibrosis cf comparison of acute effects of conventional high frequency chest oscillation hfcwo and hand held percussor electroflo 5000 for airway clearance in cystic fibrosis. As a teacher, you can provide reassurance to both parents and students by working with them and cf health care professionals to maximize your. Browse our resources relating to cystic fibrosis, such as social security benefits, filing your taxes, counselling or financialtravel assistance. Click on a topic to read articles on airway clearance techniques, nutrition, updates on devices, or advice about cf complications. Alton ewfw, armstrong dk, ashby d, et al on behalf of the uk cystic fibrosis gene therapy consortium. Cystic fibrosis in children can result in side effects such as shortness of breath, frequent coughing, and digestive tract issues. Cf mutations video series cystic fibrosis foundation.
Im 18 years old and i have cystic fibrosis a genetic disease that affects the lungs and digestive system. Khan academy is a nonprofit with the mission of providing a free, worldclass education for anyone, anywhere. Three lives a short documentary about cystic fibrosis on. It is the most common type of chronic lung disease in children and young adults, and may result in early death. One hundred and ninety seven patients with cystic fibrosis were enrolled in this study. However, cf was recognized in european folklore hundreds of years earlier, and anticipated the sweat electrolyte. Affects only the targeted cells in the patient, and is not passed to future generations. Presentation and management of cystic fibrosis respiratory. It causes buildup of too much of mucus in different tissues, particularly in lung and pancreas. Active video game playing in children and adolescents with. It is one of the most common genetic disorders found in the caucasian children. Cystic fibrosis cf is a common lifeshortening, childhood onset inherited disorder that affects the lungs, pancreas and other organ systems. Its truly become something i can always rely on and help me. Cystic fibrosis transmembrane, which means it goes from one side of the membrane to the other.