...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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...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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...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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...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...
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...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...
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...Obstructive Pulmunary Disease A. Hallmarks 1.Airflow limitation 2.Irreversible type disease: (COPD) Emphysema, bronchitis, asthma, cystic fibrosis, bronchiectasis,bronchiolitis 3.Reversible Type:Hyper-reactive airway disease, Athma, chronic inflammatory disease B.Airflow reduction REduced bronchiole Tone elevated air trapping FEV1 is reduced Emphysema: low elastic recoil of bronchiles, low air flow, low airway tone, pressure drive of air is low Asthma:Bronchoconstriction with higher resistance Residual volume and Residual Capacity along with Total lung capacity elevated Emphysema: effects create greater work of breathing and dyspnea Chest xray shows flattened diaphragm, lower intra-thoracic pressure and shortened muscle fibers also hyperlucency Greater air trapping Airway narrowing due to low elastic recoil Decreased driving pressure for air flow reduced FEV1 reduced FEV1/FVC RV, TLC and FRC elevated Hyperinflation reduced alveoli with loss of surface area Ventilation to Perfusion mismatch creates hypoxemia Low Diffusion capacity Genetic link: Alpha 1 antitrypsin reduction Alpha 1 is made in liver , then travels to lung helps reduce the degradation of Elastin which helps the elasticity recoil of bronchioles Pathogenesis : Inflammatory( neutrophils, cytokines, macrophages Oxidant: lipid peroxidation with active proteases Neurogenic: Beta 2 adrenergic effects of...
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...Cystic Fibrosis affects more than 30,000 children and adults in the United States. Cystic Fibrosis, also known as CF, is a life-threatening genetic disease that causes lung infections and limits the ability to breathe. CF also affects other organs as well. People who have CF are born with a defective gene that they must receive a copy from both parents. There are more than 1,800 known mutations of CF. Factors such as age of diagnosis, can affect an individual’s health and the course of the disease. The defective gene causes a buildup of thick and sticky mucus in the lungs, pancreas and other organs. Mucus is normally slimy and a little thicker than water. In the lungs the thick mucus buildup clogs airways and traps bacteria which leads to...
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...suffers from pulmonary fibrosis, you know that it is a disease that occurs when the lung tissue becomes damaged and scarred, making it difficult to breathe. In most cases, the cause of the disease is not determined. When the cause is not found, the disease is referred to as idiopathic pulmonary fibrosis. Medications and therapies sometimes help lessen the symptoms, but pulmonary fibrosis is a progressive disease and the scarring worsens over time. COMPLICATIONS OF PULMONARY FIBROSIS There are a number of complications that can go along with this disease. 1. Pulmonary hypertension (high blood pressure in the lungs) Many people suffer from high blood pressure (hypertension), which is higher than normal pressure of the blood within the arteries. Pulmonary hypertension, however, is a condition that affects only the arteries in the lungs. Because of the scarring in the lungs, there is blockage and increased pressure in the arteries that causes a rise in the blood pressure....
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...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...
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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 (CF) is an inherited autosomal recessive disorder, which has serious implications on an individual’s health. The life expectancy of CF sufferers has significantly improved over recent years, with a current median survival age of 40. The genetic disorder is also known as mucoviscidosis due to the characteristic abnormally thick mucus produced. The genetic mutation responsible for cystic fibrosis is located on the long arm of chromosome 7. The triplet deletion at amino acid sequence position 508 is the most common cause of the onset of CF. The mutation affects the gene- cystic fibrosis transmembrane conductance regulator (CTFR). Cystic fibrosis is an example of monohybrid inheritance, in which the allele C is dominant over...
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