...Cystic Fibrosis The television must be turned up again to do another breathing treatment or it is time to get tapped before bed. I watch in awe as my little cousin sits there with a shaking vest on, and I wonder what is going on. If it’s time for another meal or if he just wanted a snack, he cannot forget to take his enzymes that he needs to aid in the digestion of food. I again start to wonder what is going on inside and how this little boy ended up with this disease, so I began my search in trying to learn as much about Cystic Fibrosis as I can. As of 2014, Cystic fibrosis (CF) infects about 70,000 people around the world and is known as the most common life shortening disease (Bell 2014). CF is the result of an offspring receiving two recessive alleles from each parent which comprise of a mutation inside the cystic fibrosis...
Words: 1930 - Pages: 8
...“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...
Words: 1660 - Pages: 7
...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),...
Words: 663 - Pages: 3
...Current research on cystic fibrosis gene therapy suggests that it will become an important treatment strategy INTRODUCTION: Cystic fibrosis is an autosomal recessive disease, triggered by mutation in the gene CFTR i.e. cystic fibrosis transmembrane conductance regulator. CFTR is an ABC gene i-e ATP-binding cassette (transporter) gene that encodes a protein. This CFTR protein is a chloride ion channel protein that controls the flow of chloride ions and water across the cells. This movement is important in generating sweat, digestive juices, as well as mucus secretion and its clearance. This CFTR gene is located at q 31.2 locus of chromosome 7 long arm. The most common mutation in cystic fibrosis is removal of three nucleotides that results in loss of a nucleotide phenylalanine (F) at 508th position at the long arm of chromosome 7. Depending upon the protein expression and function six classes of mutations have been identified in cystic fibrosis: CLASS I: these are non-sense mutations that hinder the protein synthesis as they have premature stop codons. CLASS II: these mutations are most commonly found in patients of cystic fibrosis that include the deletions of phenylalanine 508th del. As a result of this deletion, protein folding is reduced and as a result its transport to cell surface is impaired and it undergoes degradation within the cellular lysosomes. CLASS III: in these mutations, proteins are normally present but are not expressed to a level that responds to intracellular...
Words: 2600 - Pages: 11
...Cystic Fibrosis is a disease that for which one in every 25 Americans carry a gene, which means around 12 million Americans are carriers. It is caused by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator, causing an abnormal amount of mucus to be secreted, settling the lungs and pancreas. The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is a protein that allows for chlorine ions to be able to escape mucus-producing cells. It helps thin out the mucus to keep the airways clear. When that gene is altered, it causes life-threatening harm to newborn babies, where most of them wouldn’t last longer than a couple of months. Due to the benefits of modern diagnosis and treatment, the life-span of a Cystic Fibrosis affected...
Words: 1520 - Pages: 7
...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....
Words: 2597 - Pages: 11
...Frieben, related to X-rays, Mavor was able to show, in Drosophila, that exposure to X-rays increased the frequency of nondisjunction. In 1938, Bridges used Painter’s drawings to develop a system for describing each band. After many years of exploring what caused male determination, Jacobs and Strong showed that mammals are, in fact, similar to Melandrium, where the Y is the male-determining chromosome. Lewis showed that position effect is not dependent on how the chromosomes are positioned. From this study, the terms cis and trans were introduced into the genetics vocabulary. Landsteiner’s work with blood determination allowed Decastello and Sturli to form the common ABO blood grouping system. The work of Garrod and metabolic pathways allowed Beadle, Tatum, Winge, Avery, and others to increase our current knowledge on the subject....
Words: 1379 - Pages: 6
...Course: Date: Introduction Cystic fibrosis (CF) refers to an inherited problem of the mucus glands. Mucus is a substance that is usually slippery secreted by the body to cover the digestive system, lungs, and reproductive system as well as other tissues and organs. CF makes the body to release excessive mucus that is extremely thick and sticky, which can cause various health issues. Among these health issues are difficulty in coughing, chest repetitive infections, lengthy diarrhea and deprived gain of weight. If the condition is not treated it would cause extensive complications, which may lead to early death. Nevertheless, if the condition is identified early and the child is exposed to proper treatment, the symptoms of CF are controllable and children may live longer. Different authors have different views on CF as they all try to get into a conclusion on how the health condition should be resolved. Since CF is inherited, the defective gene must be passed from both the parents to the child in order to acquire the disease else if only a faulty gene is inherited, the child becomes a carrier. Actually carries of cystic fibrosis do not have the disease but can pass to other individuals. There are proposals on improvements as well as challenges in executing the CF treatment process. The paper discusses the proposal below. Literature Review According to Norm Brown (2009), the gene responsible for CF was identified and it was named Cystic Fibrosis Trans-membrane Conductance...
Words: 1606 - Pages: 7
...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...
Words: 2526 - Pages: 11
...Williams. Dr. Williams failed to approach and gain Juan’s confidence and ignored the child only to deal with the parents. Juan’s parents encouraged Dr. Williams to contact Juan’s primary doctors so that he could understand Juan’s medical needs. Juan is dealing with Cystic Fibrosis and other birth defects that were not mentioned. Juan is expressing social problems which are causing concern to his parents. Dr. Williams felt that he could “alter Juan’s angry behaviors with a Standard Behavioral Intervention” (case study video) Dr. Williams felt that a standard behavioral intervention was the next step for Juan without even explaining what that was to Juan’s parents. Juan’s parents were a no-show for the next appointment and Dr. Williams was not bothered by this. Dr. Williams failed to implement the Five General Principals: Beneficence and Nonmaleficence , Fidelity and Responsibility, Integrity, Justice, Respect for People’s Rights and Dignity. Treatment Plan: Evaluation/ Symptoms/Treatment/Diagnosis/Application of Therapy Clinical Interview with Parents of Juan: Juan male age 15 from the Dominic Republic. Parents are expressing concern of social problems and disabilities with their son. Juan has Cystic Fibrosis and other birth defects. Evaluation will need to take place with Juan and his parents as well as alone with Juan, so that Juan can feel comfortable to be able to have a rapport. Forms: Parents have been given medical release, medical consent to treat...
Words: 784 - Pages: 4
...Cystic fibrosis, also known as mucoviscidosis, is an autosomal recessive disorder.1,2,22 It is the most common inherited disease in the Caucasian population affecting 1 in 3000 children in Western Europe.3 It is a multiorgan disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is located on the long arm of chromosome 7 and encodes for a special chloride ion channel.4,5 The vast majority of mutations involve three or fewer nucleotides and result in primarily amino acid substitutions, frameshifts, splice site, or nonsense mutations.11 Of more than 800 identified CFTR mutations, the 3 base pair deletion of phenylalanine at position 508 is found worldwide in 70% of cystic fibrosis sufferers, therefore making F508 CFTR the most common deadly mutant in the Caucasian populations.6 Since cystic fibrosis has a genetic origin the opportunity to treat by replacing the defective gene with a normal healthy gene (gene therapy) offers a ‘novel therapeutic approach’ for sufferers.7 The estimated survival age of cystic fibrosis sufferers is 33.4 years (Fig 1). In this essay we will discuss the aetiology and symptoms of cystic fibrosis and the current available treatments, with particular emphasis on gene therapy and furanones, which prevent the build up of bacterial biofilms and thus reduce lung infection. Mutations in the CF gene can disrupt CFTR function within epithelial cells in different ways, ranging from complete loss...
Words: 2257 - Pages: 10
...life can be affected by ill-health. In this assignment I will be discussing how cystic fibrosis and obesity affects the health and lifestyle of the person with the illnesses. What is cystic fibrosis? Cystic fibrosis is an example of ill health, as it is the UK’s most common, life threatening disorder. It is a genetic disorder that is caused by ‘an inherited disease caused by a faulty gene. In the UK, 2.3 million people carry the faulty gene and when two people that are carriers of the gene, there is a 1 in 4 chance in every pregnancy that their child will be born with cystic fibrosis. This gene controls the movement of salt and water in and out of your cells, so the lungs and digestive system become clogged with mucus, making it hard to breathe and digest food.’ This faulty gene causes a variety of symptoms for the person with the disorder, some of these symptoms include: a persistent cough, poor weight gain and recurring chest and lung infections. The cells most seriously affected are the lung cells, this is because the over production of mucus clogs the airways of the lungs and increases the risk of infection due to the amount of bacteria that can reproduce which may lead to lung and heart failure. Cystic fibrosis is a disorder that is getting more treatable over the years and with newfound technology and medication has meant that ’life expectancy for children born and diagnosed with cystic fibrosis (CF) in 2010 is 37 years for females and 40 years for males’ Lewis, R (2014)...
Words: 2561 - Pages: 11
...Cystic Fibrosis Latisha Long HCS/245 March 26, 2012 Cathy Coyle Cystic Fibrosis In today’s society there are many diseases out there. It is to contract these diseases by coming in contact with a carrier. People who are into sharing dirty needles, having unprotected sex, or not being able to maintain a healthy and clean environment, can become infected with these transferable diseases. There are some diseases out there that you can inherit; one in particular that stands out is Cystic Fibrosis (CF). CF is a life threating disease; there are 1,000 new cases each year. With the new treatments and studies, people are living longer with CF. Before people with CF were only living into the early years of their childhood, and now they are living well past their 30s. CF is an inherited disease that affects the lungs and digestive system. A defective gene and its protein cause the body to produce an abundance of thick sticky mucus in the lungs. The production of this mucus causes the lungs to clog and can lead to life threating infections. CF can also cause the pancreas to obstruct and stop enzymes, which allows the body to absorb and breakdown food. This can cause slow growth and malnutrition in the body, and the sticky mucus can block the airway which makes it difficult to breath causing this disease to be life threatening. People with CF have shorter life expectancy, because of the way CF controls the body. The treatment for CF is improving every day...
Words: 1105 - Pages: 5
...humans, there are some certain types of infertility, and IVF has the obvious benefit of solving this problem. Researches and procedures regarding this method present us the advantages of using this method. It is very important to know that prenatal diagnosis represent a major side of IVF; based on these diagnoses, that could determine any disease that may exist; the right decisions can be taken. One recessive disease is about cystic fibrosis, a common disease today. Cystic fibrosis is a hereditary disease meaning that there is a disruption in the body’s salt balance, leading to disability; it leaves too little salt and water on the outside of cells and is causing a thin layer of mucus. Handyside, PH.D. is describing the advantage of in-vitro fertilization, based on the prenatal diagnosis that would avoid any risks of having affected children, due to the cystic fibrosis. Doctor Handyside is explaining what is causing this disease in his article “Birth of a Normal Girl After In Vitro Fertilization and Preimplantation Diagnostic Testing for Cystic Fibrosis.” He described what the cause of this disease is; there is an Alfa F508 three-nucleotide deletion. Once a woman got this, it means that is impossible to get pregnant. “In vitro fertilization techniques were used to recover oocytes from each woman and fertilize them with her husband’s sperm.”(Handyside, 1992). Basically, using this method, the researchers may extract everything is wrong in these embryos, leaving there a healthy...
Words: 1017 - Pages: 5
...A toddler with Down syndrome Jeffrey was 14 months when I met him. He was born with Down syndrome and a congenital heart defect and had an open heart surgery when he was 6 months old. Jeffrey often got ear infections and had recently had a set of pressure equalizing (pe) ear tubes placed. Jeffrey was not walking and was not yet crawling. Children with Down syndrome do learn to crawl and walk and talk; it takes longer. Recent research and clinical experience suggests that, with regard to talking, these children benefit from early oral stimulation, oral motor awareness and multiple experiences with oral sensory stimulation. As soon as I met Jeffery, we began working on ` mouth wakeup` activities , stimulating his teeth, lips, gums , hard and soft palate, inside cheeks, and outside jaw muscles with a variety of toys and tools, including vibrators. We taught his parents to do the same at home. Another part of getting ready to talk is stimulating receptive language (language comprehension). In speech therapy visits we begin using short descriptive sentences to describe toys Jeffrey picked up (he was in a high chair initially). We dropped direct questions during these periods of indirect language stimulation and encouraged the parents to do the same. After two to three weeks, Jeffrey’s mother became adept at these techniques and began describing his activities as he did them so that he could hear them and associate the object he had with the words he heard. Her continuing work in this...
Words: 1457 - Pages: 6
