...Section 3 T.A. - Sheree Speckman November 15, 2011 Introduction: Cystic Fibrosis is one of the most common chronic lung diseases in children and young adults. It is an inherited deadly disorder that affects Caucasians in the United States. Cystic fibrosis of CF is a disease that is caused by a defected gene, which causes the lungs to build up with an abnormally thick and sticky fluid, or mucus. This mucus affects the lungs obstructing breathing along with also affecting the pancreas, causing poor absorption of nutrients. For my family Cystic Fibrosis is a well-known disease, because my Aunt Rae Ellen died of it back in 1962. The history of Cystic Fibrosis dates back into the mid-17th century where it was first known as a child who had become bewitched. Advances in cystic fibrosis began to pick up in the 1940s. Children with CF are normally diagnosed by the age of 2 and now can live to around the age of 40. There are many different symptoms that come along with this disease. There are different symptoms related to newborns, bowel functions, lungs, and later in life. The most common symptoms seem to be coughing or increased mucus in the lungs and salty-tasting skin. People with cystic fibrosis have mutations on the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which reduces the ability of chloride ions to travel across cell membranes. There is no way to prevent Cystic Fibrosis but there are ways to deal with it and have a quality life with it....
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...How many of you have ever heard of the disease called Cystic Fibrosis? Im going to talk about how someone can get Cystic Fibrosis, some symptoms that go along with the disease, a few treatments, and the basic overall prognosis. Now I personally know a great deal about Cystic Fibrosis, or Cf as it can be called because 3 of my cousins actually have it. Cystic Fibrosis is a genetic disease. People inherit CF from their parents through genes, same as how you get your hair color, eye color and height. In order for a person to get CF they must inherit to copies ,one from each parent , of the defective gene called the CFTR gene. Now this gene cause the body to produce unusually , thick and sticky mucus. This mucus clogs the lungs and can cause life-threatening lung infections.It also obstructs the pancreas and stops natural enzymes from helping the body breakdown and absorb food. Some symptoms that go along with CF is Persistent coughingFrequent lung infectionsWheezing or shortness of breathPoor growth and weight gain despite having a good apetite Now even though CF is fairly a rare disease every newborn is screened for it. Now this is not entirely a definitve, so a follow up test is performed called the sweat test. This test measures the salt content of sweat. High salt= cf positive. Unfortuntley, there is no cure for Cystic Fibrosis. According to the CF Foundation Patient Registry the average life expectancy is 40 years old. This is still very young but the life expectancy...
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...Cystic Fibrosis Cystic Fibrosis is an inherited lifelong disease that affects more than 30,000 children and young adults in the United States (Kids Health, 2007).This genetic disease which affects the transportation and clearance of electrolytes and fluids across cell membranes from exocrine glands (Yourlunghealth.org, 2004). Exocrine glands are present everywhere in your body that comes into contact with an external environment. There is no cure for cystic fibrosis (Medline Plus, 2009). Cystic Fibrosis affects the lungs, pancreas, digestive tract and reproductive tract (American Lung Association, 2008). Cystic fibrosis mainly affects the lungs and pancreas. It causes the lungs to create thick, sticky mucus blocks in the airway making it very hard for the child to breath and also very easy for them to get infections. This can lead to tissue damage and airway inflammation (Yourlunghealth.org, 2004).Eventually the chest will assume a barrel shape with increase in size in the front and back of the child (Price and Gwin, 2008).In the pancreas mucus blocks prevent enzymes that help to break down food from reaching the intestines and aiding in digestion(Genetics Home Reference, 2009).Since the digestive tract cannot digest food properly this can lead to many problems, such as poor absorption of vitamins and minerals which can ultimately lead to malnutrition (Yourlunghealth.org, 2004). Kids with cystic fibrosis have trouble gaining weight even when they have a normal diet and a healthy...
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...BI 112 Genetic Paper Cystic Fibrosis Cystic fibrosis is a disease that can be genetically passed down to offspring. According to the cystic fibrosis foundation’s website, “it affects the lungs and digestive system of about 30,000 children and adults in the United States,” and “70,000 worldwide” (www.cff.org). The online website lab tests online, records that cystic fibrosis “is a relatively common disease caused by mutations in the gene located on chromosome 7” (www.labtestsonline.org). This chromosome contains a protein called cystic fibrosis transmembrane regulator or CFTR and a mutation in this gene “lead to absent or defective CFTR production causing cystic fibrosis (www.labtestsonline.org). There are some very specific signs and symptoms of this disease. Some of the most common symptoms are: “very salty tasting skin, persistent coughing at times with phlegm, frequent lung infections, wheezing or shortness of breath, poor growth/weight gain in spite of a good appetite, and frequent bulky tools or difficulty in bowel movements” (www.cff.org). It is also reported by the American lung association’s website that it “causes thick, sticky mucus to form in the lungs, pancreas and other organs. In the lungs, this mucus blocks the airways, causing lung damage and making it hard to breathe. In the pancreas, it clogs the pathways leading to the digestive system, interfering with proper digestion” (www.lungusa.org). It is important to be genetically tested to see if there...
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...“Cystic Fibrosis” Pediatric Case Study March 27, 2013 Kasie Wilson The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Cystic fibrosis (CF) is a major cause of serious chronic lung disease in children. It is an inherited recessive trait, in which both parents carry a gene for the disease. Children with cystic fibrosis have a defect in chromosome number seven, which is thought to have developed many years ago as a protective response of the human body against cholera (just a theory). The disease causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body such as the pancreas, liver, and intestine. It also causes a loss of electrolytes in sweat because of an abnormal chloride movement. About one thousand new cases of cystic fibrosis are diagnosed each year and more than seventy percent of these patients are diagnosed by the age of two. Cystic fibrosis is considered a multisystem disease because of the following effects of the thick, viscid secretions. In the respiratory system, small and large airways are obstructed, which then results in difficulty breathing. The accumulation and stasis of the secretions create a medium of growth for organisms that will cause repeated respiratory infections. The thick secretions in the lungs and response of tissues to infections cause hypoxia that can lead to heart...
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...Matto Massaad 1/19/16 AP Bio Mr. Duehr Cystic Fibrosis In 2010, two sisters, diagnosed with cystic fibrosis, went on America’s Got Talent to show the world that they would not let this horrible disease drag them down. People said from the start, according to Christina and Ali, “they would never be able to sing.” They were from a family of four children who were all diagnosed with cystic fibrosis. Cystic fibrosis is a single gene disorder. This disease is still very life threatening even though science, medicine, and technology have come a long way since the mid 20th century. In the past fifty years, cystic fibrosis patients have gone from dying as infants to having their average life expectancy be from 3540 years old, (Kaneshiro.) Cystic fibrosis is caused by a mutation of the CFTR gene. This gene makes a protein called CFTR or (cystic fibrosis transmembrane regulator.) This protein balances the salt and water content on epithelial surfaces by providing a channel for the movement of chloride ions in and out of cells, (Genetics and Nutrition.) The CFTR protein can be altered if there is a fatal mutation in the CF gene. Although there are so many different mutations of this gene, the most common is found in almost ninety percent of all cystic fibrosis patients. This mutation is just a simple deletion of three nucleotides. These three nucleotides were to create the amino acid phenylalanine, but with CF, that is never made. The CF protein never makes it to the cell ...
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...According to Marfan foundation, Marfan syndrome “is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grows and develops properly.” The connective tissue is made up of proteins. The protein of the tissue is called fibrillin-1. It is found in 1 out of 1,500 people. It can be found in male and female and in all races. It is in inheritable 3 out of 4 people inherit Marfan syndrome. Cystic Fibrosis is because of a defective gene that causes a thick, buildup of mucus in the lungs, pancreas and other organs. In...
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...Greetings! What will YOU make possible? It is a question we can all ask ourselves. We taking on a huge challenge with the Children’s Tumor Foundation and making it possible to end neurofibromatosis (NF) through research. A very special little boy from Burleson is the reason we are doing this. My son, Denver Wakin is 9 years old and lives with NF every day. NF causes tumors to grow on nerves throughout the body and can lead to blindness, bone abnormalities, cancer, deafness, disfigurement, learning disabilities, and excruciating and disabling pain. NF is under-recognized and underdiagnosed yet affects more people than cystic fibrosis, muscular dystrophy and Huntington’s disease combined. CTF is at the forefront of funding critical NF research - research that is also shedding new light on several forms of cancer, brain tumors and other health issues, ultimately benefiting the broader community. This June we are hosting the 3rd annual TEAM DENVER Golf Tournament. In past years, our tournaments have been hugely successful and praised among our participants. The past two years we have raised over $30,000 and I truly hope that we can make our goal of $25,000 this year! I want to tell you how much we appreciate you being in the community and we would love to partner with you. We want our golfers to see the importance of our cause, of course - but also the importance of community. Together we can highlight to the people in the Dallas Fort Worth area how much you care...
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...Cystic Fibrosis Cystic fibrosis is a recessive, genetic illness, which affects the work of lungs, liver, intestine, and pancreas. This disease causes malfunctioning of the chloride and sodium transportation across the body and results in the thick and viscous secretions. Nowadays, cystic fibrosis affects thousands of people, especially in Europe and the US. Although, cystic fibrosis is a rare disease, it is quickly spreading all over the world and leads to the general shortage of life. In fact, it is a serious disease, which calls for an immediate diagnosis and appropriate treatment. History of the Disease Cystic fibrosis was discovered in the first half of the 20th century. However, without doubts, it emerged thousands of years before. The researchers surmise that cystic fibrosis appeared about 3000 BC, as a result of migration and gene mutation. During the 16-17th centuries, the salty taste of the skin (which is the symptom of cystic fibrosis) was considered a sign of bewitchment. Dr. Dorothy Andersen was the very first to describe the peculiarities and main characteristics of this disease. Before that investigation, the humanity had already known some facts and elements of cystic fibrosis. The reason for such late examination of this disease can be explained with the lack of required tools and means. Even nowadays, there are still many researches, aiming at providing objective information about cystic fibrosis and applying to the methods of the newborn and antenatal...
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...Paula and Larry Meyers are parents of two young children, Kelly (4) and Lisa (18 months). Paula and Larry became very concerned when Lisa wasn’t showing the normal development, that their older daughter Kelly did at Lisa’s age. Their paediatrician suggested they take Lisa to a neurologist and after extensive tests, it was determined that Lisa has cerebral palsy. The services available for the Meyers family in the community are Ontario Federation for Cerebral Palsy (OFCP), Ontario Association of Children Rehabilitation services (OACRS), and Grandview Kids. Ontario Federation for Cerebral Palsy program supports and responds to requests from families of parents with children with cerebral palsy. They offer information, and funds resources, such as therapies, education, and parenting issues. OACRS is a useful link to the sites of other organizations, which parents and families might be interested in. Grandview Kids provide services and support for children and youth with special needs and their families to achieve their personal best. I would recommend the Meyers to OFCP for assistance, giving that their children and families program provides support for a child through the early years. The program is design for the individual child and family, since each child is unique. With each development years the program provides assistance, such as therapies, financial resources, educational resources, special services for home care and assist in government programs for children with...
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...Cystic Fibrosis is a chronic disease that requires lifelong treatment starting at birth. By the age of 6, most CF patients know their course of treatment but that does not mean that their fear and anxiety of their treatment is obsolete. The following are interventions that can be specifically used with CF patients. Preparation. Preparation is a primary intervention used by CCLS to educate and prepare a family and patient for procedures. As previously discussed, CF patients go through many distressing procedures, and preparation can help to minimize the stress/anxiety felt by a CF patient or parent (Thompson, 2009a). CCLS can facilitate preparation by using medical play dolls to demonstrate procedures (if the child is information-seeking),...
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...Cystic Fibrosis By Cameron Boulden Cameron Boulden BI101NB Cellular Essay Cystic Fibrosis Cystic Fibrosis is a genetic disorder passed down to children from parents through defective genes. Normally neither parent has the disease, it is the child who inherits one damaged gene from each parent, causing the infection. Some of the target areas for cystic fibrosis are, sex organs, lungs, liver, pancreas, and sinus. (Gary H. Gibbons) People living with cystic fibrosis have thick gluey mucus that builds up in their lungs and blocks the airways, ultimately making it hard for tubes to carry air in and out. Typically mucus is watery, keeping organs moisturized so they don’t dry out. (Gary H. Gibbons) Mutation of the CFTR (cystic fibrosis transmembrane conductance regulator) gene is what leads to cystic fibrosis. A change in this gene negatively affects the formation of the CFTR protein, making it unable to pass chloride ions and water in and out of cells. The lungs and pancreas are then directly...
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...Cystic Fibrosis Cystic Fibrosis (CF) is a life threatening disorder that causes severe damage to lungs and digestive system. CF affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery but, in CF a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant the secretions plug up tubes, ducts and passage ways especially in lungs and pancreas. CF is most common in white people of Northern European ancestry, but also occur in Hispanics, African Americans, and some Native Americans. (Mayo Clinic). More than 70% of patients are diagnosed by age two. The predicted median age of survival for persons with CF is in late 30’s. Symptoms of CF can be found in many ways, from very salty- tasting skin, persistant coughing at times with phlegm, frequent lung infections, wheezing, or shortness of breath, poor growth or weight gain in spite of good appetite, or frequent greasy, bulky stools or difficulty in bowl movements. Although CF requires daily care most people with condition of CF are able to attend school and work. (CFF2013) CF is diagnosed by many ways, all states screen newborns for CF using genetic testing or blood test. The blood test shows whether a newborns pancreas is working properly. Another way is sweat test, this test is most useful for diagnosing CF, a sweat test measures amount of salt in sweat. Doctors triggers sweating on small patch of skin on an arm or leg, he or she...
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...Adult Client with Childhood Disease-Cystic Fibrosis Candace Tiley GCU RN-BSN Health Assessment NRS-434V Kathy Karlberg August 01, 2013 Adult Client with Childhood Disease-Cystic Fibrosis CLC GROUP ASSIGNMENT-SPEAKER NOTES Candace Tiley #1- A clinical description and definition of the disease Definition: Cystic Fibrosis is one of the major life-threatening disorders that affect vital organs such as the lungs, pancreas, liver, and intestines. It is a genetic disorder of the exocrine glands, also called the secretory glands, which are the glands that produce and secrete mucus and sweat. CF affects all races but primarily affects Caucasians of European descent. This disease affects about 30,000 people in the United States and 70,000 people worldwide. In the U.S. nearly 5% of the population carries the defective CFTR gene. There are a high number of asymptomatic carriers. (Scott, 2013) Cystic Fibrosis causes severe damages to cells of the body that produce mucus, sweat, and digestive juices. Under normal conditions, these secretions from the body are usually thin and slippery. However, in people diagnosed with CF, the defective gene causes the secretions to become thicker and stickier. This leads to a plugging up of tubes, ducts and passageways, particularly in the lungs, sinuses, pancreas, intestines, hepato-biliary tree, and the vas deferens. (Hopkin, 2009) Cystic Fibrosis is characterized by abnormal movement of chloride and sodium ions across the epithelial...
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...English 102 4 November 2013 Gene Therapy The ability that gene therapy gives humans, could easily be looked at as playing God. In simpler words could scientists be making human bodies survive deathly diseases, or are scientists just simply damaging future gene pools? Ethically speaking, are scientists improving bodies to save Gods people, or are scientists just trying to make Gods people perfect and in the end just damaging the bodies’ people inhibit. The amount of technology for gene therapy is bursting into a quicker pace day by day, with some thoughts though, is it going quick enough? Gene therapy is one of the most amazing advances in the medical field. Being able to know we can change ones genetic history is something out of the ordinary. Being able to change diseases could benefit our survival in the long run. The thought of being able to treat diseases with the hope of cures for such diseases as Cancer, AIDS, PKU, etc. should be thought of as a "God sent." There could be no thought of a superhuman as a result. It is just childish to think something like that can happen. With our genetic makeup causing no harm or pain, the line should be drawn to this point. Gene therapy is one of the most tremendously helping advances in the medical field. Just being able to think that it can help with genetic diseases and disorders is something out of the ordinary. The thought that scientists can help the human race survive these diseases...
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