Abstract This research paper discusses the anatomy and physiology of the cystic fibrosis (CF). The paper discusses the imaging modalities and the unique tool represented in the MRI, as well as its drawbacks. The paper also discusses the drawbacks of the other imaging modalities and the future of imaging technology in the diagnosis and treatments of CF. The paper contains figures.
Table of Contents:
Literature Review
Chapter One
Diagnosis and the Anatomy and Physiology of a Life Threatening Disease: Cystic Fibrosis
What Science Looks For
A Complex Physiology
Chapter Two
Computerized, Tomography as a Tool in Treatment Approach for Cystic Fibrosis
Chapter Three
MRI and Cystic Fibrosis
Chapter Four
The Drawbacks of Modern Technology
Chapter Five
Discussion and Conclusion
From the Paper "Genetic research today, more than anything else, is probably the most aggressive and advanced it has ever been before. It raises ethical and social issues in many circles, and those issues deserve debate and there is a need to ensure ethical practices when words like "cloning" and human genetic engineering are being used (Howie, 2002, p. 139). However, these ongoing discussions of ethics should not prohibit or bring to an end research that is going to ease the pain and suffering of children and young adults, and improve their quality of life and longevity with less pain."
Abstract The author presents an extensive report on cystic fibrosis, its causes, treatments and future. Despite much research, the cause of cystic fibrosis has baffled the medical community. Recently the genetic link and mapping of cystic fibrosis has been pursued with some success. Many aspects of the disease including the enzyme treatments that are currently being studied, are presented.
From the Paper "It is the leading genetic killing disease in the nation with 30,000 Americans having it currently. It is not particular about gender and strikes males and females equally often. It is also not picky about what race it affects, though studies indicate that there are more white people with the disease than there are other races with it. "
Abstract This paper begins by explaining that cystic fibrosis is a genetic disease, which is caused by the mutation of the gene called 'cystic fibrosis transmembrane regulator (CFTR). The paper shows how recent studies have brought about improvements in the life expectancy of CF sufferers, and there are hopes, through gene therapy of improving it even further.
Contents
Introduction
Definition of Term
Protein Influence
Diagnosis
Treatment
Conclusion
From the Paper "Cystic fibrosis is an inherited disease which cannot be prevented. When CFTR protein in cells that line passageways of the lungs, pancreas, colon, and genitourinary tract are abnormal, two problems result: blockage of the movement of chloride ions and secretion of abnormal levels of mucus. These problems are caused by a mutation of the CFTR, which is called deltaF508 CFTR. This mutation ?. . . accounts for 70-80 percent of all CF cases. Various other mutations . . . seem to be the cause of other CF cases? (CaringParents.org., 2003, 1). This could mean that there are other, undetected as yet, causes for cystic fibrosis."
Abstract This paper discusses the hereditary lung disease, cystic fibrosis (CF). The paper presents statistics of those suffering from CF in the United States. The cause, symptoms and diagnosis of the disease are examined. The paper explores the prognosis for CF patients and analyzes the available treatments. The paper contends that although much progress has been made in recent years in terms of diagnosis, treatment, quality of life, as well as average life spans, there is clearly much more to be done.
Outline
Introduction: What is Cystic Fibrosis?
Incidence and Etiology
Pathology and Pathophysiology
Signs, Symptoms and Complications
Diagnosis
Prognosis
Treatment
Clinical Trials and Studies
Hidden Benefits
Conclusion
From the Paper "Cystic fibrosis is a serious genetically inherited disease that is estimated to affect around 30,000 children and adults in the United States alone (CFF, 2005). In this disease, a defective gene causes parts of the body to produce abnormal sticky, thick mucus. This abnormal mucus causes the lungs to become clogged, and can also lead to serious lung infections that can be fatal (2005). In addition to the negative effect on lung function, the thick mucus also causes an obstructive barrier to the pancreas which results in the patient having difficulty with food digestion as well as nutrient absorption. Cystic Fibrosis can cause complications leading to early mortality (the average age of the Cystic Fibrosis patient today is 30). Yet advances in treatment have steadily increased life the life expectancy of people suffering from this disease."
Abstract The paper shows that the field of pediatric nursing is a particularly large one in which its members may find themselves having to counsel both young patients and their families suffering from a myriad of diseases. Cystic fibrosis (CF), in particular, is a debilitating disease that strikes many young people. The paper discusses how, in the first years following its discovery, many children could not expect to make it to their teen years. Today, with advances in the management and care of this disease, patients are living into their 40s and it is even possible that there will one day be a cure. This paper will look at CF from a historical perspective. The timeline of its discovery and research are briefly presented, as are a few of the significant "milestones" in the history of the treatment of CF and what these mean for people battling this disease.
From the Paper "Perhaps the most exciting advent in the history of the treatment of CF, as well as the most controversial, is the use of gene therapy. The idea behind gene therapy is to treat an illness by addressing and correcting its genetic cause. With the identification of the gene that actually causes CF, noting that it is a defect of sorts in the gene that causes the disease, it was only a matter of time before gene therapy was applied to CF. In 2000, an advanced experiment was performed in North Carolina. The idea was to give patients currently suffering from CF a healthy gene and hope that it will fix what is wrong with the unhealthy gene, even replace it, thereby curing the patient. Results and future applications of this procedure remain to be seen."
Abstract "Cystic Fibrosis: The Facts" is a comprehensive, informative and well-written book about the disease and its treatments. The paper explains how authors, Ann Harris and Maurice Super address the book to a general audience, making the book extremely accessible to laypeople. The paper first discusses the book, chapter by chapter and then provides an overview of this congenital disease that mainly affects the digestive and respiratory systems. The paper discusses the causes, symptoms and treatment of the disease, using Harris and Super's book as a reference.
From the Paper "Newborn babies diagnosed with cystic fibrosis exhibit meconium ileus, a blockage of the lower intestine that causes abdominal swelling and bilious vomit. Surgery is necessary to correct meconium ileus. Children past the newborn stage who have cystic fibrosis will have symptoms like abdominal distension, loose and malodorous stool, and rectal prolapse. All these problems are associated with an improper functioning of the small intestine. In some cases, children with cystic fibrosis will develop a mild form of diabetes. In about 10% of cystic fibrosis cases, no gastrointestinal symptoms will be present. However, GI symptoms are usually detected far before respiratory ones are. The sweat glands are also affected by cystic fibrosis, as the disease causes increased electrolyte presence in the sweat. In fact, using sweat as a diagnostic measure is one of the safest and most reliable tests for cystic fibrosis."
Abstract This paper discusses the clinical assessment of a family with a chronically-ill child, specifically cystic fibrosis. This paper tackles the pertinent issues regarding the physical, cognitive, social, emotional, sexual and reproductive aspects of the child. It also discusses the disease impact on the other siblings and a very important issue to the family, the option of continuing drug therapy at home.
From the Paper "Focusing on Kirsty as a secondary school-aged child living with cystic fibrosis, discussing her growth and development in terms of: Physical aspect Kirsty is a 12 year-old girl, currently in sixth grade, the second child of Robert and Leonie Shields, ages 45 and 40 years, respectively. She was born in Western Australia, delivered full-term by spontaneous vaginal delivery with no noted complications. The first hints of a problem emerged when they noticed she had a voracious appetite with no corresponding gain in weight. Later on, her abdomen was noted to protrude in spite of her appetite; no other unusual changes were noted in Kirsty until she reached two years, where she began to have frequent respiratory infections. Each was characterized by full recovery with antibiotic prescription by a local general practitioner only to have another infection."
Abstract This paper discusses nursing management of cystic fibrosis (CF). It begins by describing the pathophysiology of the disease and the risk factors associated with it. The paper then looks at complications that may arise with the disease and possible treatment options that are available. Finally, the paper discusses the overall nursing management of CF.
From the Paper "Some of the many complications that may arise in CF patients are pulmonary in nature. Apart from pneumonia, a host of pulmonary complications such as atelectasis, pneumothorax, hemoptysis, allergic aspergillosis, hypertrophic osteoarthropathy, acute respiratory failure and chronic respiratory failure may result during the natural history of CF (Boat, 1998). Salt depletion can also occur in CF patients, particularly during warm weather and activity where sweat is excessively excreted. Gastrointestinal complications, including those of the hepatobiliary tree include intestinal obstruction, liver disease, pancreatitis and hyperglycemia may also occur and are treated accordingly."
Abstract The paper begins with a description of the physiology of cystic fibrosis. The causes and effects of the disease on bodily function are discussed. The segments of the population that the disease effects are outlined, as well as the current status of treatments.
From the Paper "That nagging cough we all have may seem like a nuisance, but actually it is serving a very important purpose. When the airways become clogged the extreme causes are severe illnesses relating to breathing problems, such as asthma or emphysema. Cystic Fibrosis occur because of malfunction in the pancreas and lungs in the transportation of body salt, causing a thick mucus to block the breathing airways, and mislocation of the protein sequence, which is usually caused by a single mutation of one gene."
Abstract This paper examines how there are two main categories of disease for which therapies are currently being investigated at the molecular level. These two categories of disease are genetic and infectious. It discusses cystic fibrosis and muscular dystrophy at the molecular level and looks at possible gene therapy treatments.
From the Paper "Therapies for muscular dystrophies are at the moment only for symptomatic treatment, but advances for curing them are being researched. A pharmacological therapy addresses the pathophysiological changes that lead to muscle cell death. Transplantation therapy involves the transfer of myoblasts from an unaffected donor into the muscle of an affected patient. The myoblasts fuse and become part of the patient's own muscle tissue. Gene therapy uses retroviral, adenoviral and herpes vectors to transfer the correct functional DMD gene into patients. One problem with retrovirus's is that they are not big enough to carry the 11kb gene, so it has been found that you can cut out some of the coding region to reduce it's size, but without affecting it's function."
From the Paper " Cystic fibrosis (CF) is a genetic disease of childhood that is inherited as an autosomal recessive disorder. In 1989, following a decade of searching, investigators isolated the affected gene. They also identified an anomaly in the DNA that appeared to account for approximately 70% of cases of cystic fibrosis. This aberration, known as the _F508 mutation, was subsequently linked to the lack of the amino acid phenylalinine in the protein product of the gene. Several theories have been proposed to explain the anomalous protein's effects relevant to the disorder. Since the genetic mutation that seems to cause cystic fibrosis is an autosomal recessive trait, it is not readily exposed to natural selection, and cystic fibrosis is the most common genetic disease among Caucasians. Thus, while researchers attempt to develop therapies and cures, medical.."
Abstract This paper discusses the importance of proteins and protein folding to the human body. The paper explains that, during the different stages of protein folding that include primary, secondary, tertiary and sometimes-quaternary structures, the protein becomes susceptible to incorrect folding by binding with other molecules. The paper explores these "misfoldings", which may cause diseases such as Alzheimer's disease, cystic fibrosis, and many cancers. The paper states that researchers continue to try and comprehend the reasons and methods of protein "misfolding" to further our knowledge of the diseases that are caused by it.
From the Paper "Proteins are the biochemical molecules that make up cells, organs and organisms. (1) Like the larger structures, proteins also put themselves together, in a process termed "folding." Protein folding is the process by which a protein assumes its functional shape or conformation. All protein molecules are simple unbranched chains of amino acids, but it is by coiling into a specific three-dimensional shape that they are able to perform their biological function. The proteins fold into either alpha or beta helices with the assistance of chaperon proteins. (1)"
Abstract This paper explains that mycobacteria are a leading source of infection in humankind and continue to have a virtually universal presence in the environment. The author points out that implications of this pathogen for humans are profound with members of this genus being responsible for tuberculosis, cystic fibrosis and exacerbation of a wide range of unrelated conditions including HIV. The paper concludes that, while researchers continue to find new insights into its etiology, much remains unknown about how and why the organisms mutate to cause even more intense problems for persons who come into contact with this pervasive and invasive organism.
From the Paper "Some members of the mycobacteria genus are saprophytes (i.e., they live on decaying organic matter), while others are obligate parasites. The majority of the members of this genus are found in soil and water in a free-living form or in diseased tissue of animals. In addition, streptomycin, rifampin, and species-specific antimicrobial agents have had some success in treating mycobacterium infections. In this regard, "Mycobacteria are a leading cause of death and suffering worldwide of the 37 million HIV infected patients and of patients with cystic fibrosis." Worldwide, Indonesia has the third highest number of TB patients, with an estimated 591,000 cases in 1998; however, no data have been published from Indonesia on the distribution of M. tuberculosis genotypes. Like spiders, mycobacteria are virtually everywhere; however, different transmission rates may account for an unequal distribution of mycobacteria genotypes. For instance, in a TB outbreak in the United States, a particular M. tuberculosis genotype caused extensive transmission, as evaluated by skin test conversion; however, indirect evidence supporting increased transmission of Beijing strains comes from a recent study in Vietnam, which demonstrated that Beijing strains were more prevalent among the young patients studied."
Abstract This paper explores the disease sarcoidosis. The paper describes the symptoms, the treatment and other important aspects of the disease. According to the paper, sarcoidosis is not contagious.
From the Paper "How one gets the disease is not yet known. Medical science has proven that it is not contagious. There have been several rare occasions in which the disease has been found in twins and family members. While these families displayed the disease in several members there has been no connection to a genetic or inheritable trait at this time. "One theory of the mechanism of disease is that an antigen exposure causes dysfunction of the lung immune response resulting in a T-lymphocyte immunity that promotes inflammation and granulomas in the lung(Sarcoidosis http://www.epler.com/wsarc_gi1.html)."
To diagnose the disease there are several factors involved. When a patient presents with an enlarged or several enlarged lymph nodes or other signs of tissue growth a biopsy is often ordered. One of the first places that the disease is often seen is on the leg or just under the skin on other areas of the body biopsies of other organs is often recommended. While it can develop at any age it is rare for a child to develop it. Children over the age of four are diagnosed and treated in the same way that adults with the disease are diagnosed and treated. Children under the age of four however, is are but when it is found it is characterized differently than adult onset. A triad of ras, eye inflammation and arthritis without the involvement of the lungs is most common in young children who develop sarcodosis(Sarcoidosis http://www.epler.com/wsarc_gi1.html). "Diagnostic approach and treatment is similar to that for adults. For the most part, the outcome of sarcoidosis in children is favorable, in 15% to 20%. There may be sustained damage from the disease(Sarcoidosis http://www.epler.com/wsarc_gi1.html)."
