Cystic Fibroids
Cystic fibrosis

Cystic fibrosis is a disease that can be passed down from one generation to the other. It affects secretary glands that produce mucus and sweat. The disease results after the fibrosis transmembrane conductance regulator (CFT) gene that is found on chromosome 7 has undergone some sort of mutation. Mutation on chromosome 7 alters the production and function of CFT glycoprotein (Scott, 2013). Studies have identified more than 1600 variations of CFT mutations. Significant numbers of cystic fibrosis patients have amino acid 508 defects. The amino acid 508 mutation basically occurs when CFT protein is missing 3 base pairs at position 508 on CFT protein sequence which codes for phenylalanine. Phenylalanine is essential in nutrition. There are other mutations that mainly occur in non-white populations (Scott, 2013). The CFT mutations interfere with how sodium and chloride is transported on the apical surface level of exocrine gland epithelial cells. Cystic…...

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References List

Gould, B.E. (2002). Pathophysiology for the Health Professions.

Philadelphia, PA: Saunders.

Jones, A.M. & Helm, J.M. (2009). Emerging treatments in cystic fibrosis.

Drugs. 69(14), 1903-1910.

Cystic Fibrosis (CF) is genetically inherited through a defective gene, which results in the body producing "abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas, the organ that helps to break down and absorb food." (PubMed Health, 2011)
Reports state that millions of Americans carry the defective Cystic Fibrosis gene however; most do not have any symptoms since the person with Cystic Fibrosis "must inherit two defective CF genes, one from each parent. An estimated 1 in 29 Caucasian-Americans have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It's more common among those of Northern or Central European descent." (PubMed Health, 2011)

The majority of children with Cystic Fibrosis are diagnosed by the time that they are two years of age however, a small percentage are not diagnosed until…...

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Bibliography

Assael, BM, et al. (2002) Epidemiology and Survival Analysis of Cystic Fibrosis in an Area of Intense Neonatal Screening Over 30 Years. American Journal of Epidemiology. 156 (5): 397-401. Retrieved from:  http://aje.oxfordjournals.org/content/156/5/397.full 

Cystic Fibrosis (2011) PubMed Health. A.D.A.M. Medical Encyclopedia. 1 May 2011. Retrieved from:  http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/ 

Grossman, S and Grossman, LC (2012) Pathophysiology of Cystic Fibrosis Implications for Critical Care Nurses. Pulmonary Care. American Association of Critical-Care Nurses. 12 Mar 2012. Retrieved from:  http://ccn.aacnjournals.org/content/25/4/46.full.pdf 

Pathophysiology of Cystic Fibrosis (2012) Easy Pediatrics. Retrieved from:  http://easypediatrics.com/pathophysiology-of-cystic-fibrosis

Cystic Fibrosis: The Facts is a comprehensive, informative, and well-written book about the disease and its treatments. Ann Harris and Maurice Super address the book to a general audience, making the book extremely accessible to laypeople. Cystic Fibrosis: The Facts is an ideal source for people suffering from cystic fibrosis or for people who have loved ones suffering from the disease. Harris and Super divide the 129-page book into several well-defined chapters. The first chapter addresses the fundamentals of the disease, introducing the audience to the terminology, treatment modalities, and demographics of the disease. The opening pages of the book serve as both summary and introduction. A brief personal account is provided in Chapter 2: Living with Cystic Fibrosis. The author of the account is only 14 years old, adding weight and sentimentality to the story. The following three chapters are dedicated to the technical physiology of cystic fibrosis. While…...

" (Karem et al., 1073)
ith an increased focus today on the genetic implications of the condition, enhanced abilities to understand the behaviors of human DNA are opening the door to a more perceptive response to the condition in question. As the text by Davis (1993) indicates, "as mutational analysis and patient data continue to be compiled, patient genotyping should prove useful in both prognosticating and providing a framework for evaluating treatments. Furthermore, whether the heterozygous state of CF mutations predisposes to abnormalities such as chronic bronchial hypersecretion, airway hyperreactivity or infertility can now be more thoroughly addressed." (Davis, 17)

These factors are not just improving our understanding of what may cause cystic fibrosis, but it has also allowed us to pinpoint some strategies for controlling a condition that only 25 years ago, was seen as a pre-adulthood death sentence. As the table included in Appendix A demonstrates, the average life expectancy…...

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Works Cited:

Davis, P. (1993). Cystic Fibrosis. Informa Healthcare.

Karem, B.; Rommens, J.M.; Buchanan, J.A.; Markiewicz, D.; Cox, T.K.; Chakravarti, A.; Cuchwald, M. & Tsui, L.C. (1989). Identification of the cystic fibrosis gene: genetic analysis. Science, 245(4922), 1073-1080.

Medline Plus (MP). (2008). Cystic Fibrosis. National Institutes of Health. Online at  http://www.nlm.nih.gov/medlineplus/cysticfibrosis.html 

Appendix A:

cff.org/will each be the source of information and professional peer reviewed articles will be cited from these sources and identified by source as they cited.
There is a wealth of available information, data and studies on CF. What it all means to the patients who suffer from this debilitating and life-threatening disease will be understood as this essay proceeds.

Chapter One

Diagnosis and the Anatomy and Physiology of a Life Threatening Disease: Cystic Fibrosis child is born in the UK and, since 2007 are tested for CF in this country where cystic fibrosis is the most common inherited life-threatening disease prevalent amongst Caucasians who at a ratio of 1 in 25 people carry the faulty gene that causes CF (Cystic Fibrosis Trust, 2008, available at: (http://www.cftrust.org.uk/aboutcf/whatiscf/).

While the UK's Cystic Fibrosis Trust cites the average life expectancy of a person with CF as 31; information on the site also says that children born with…...

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Bibliography

 http://www.questia.com/PM.qst?a=o&d=102655541 

Avise, J.C. (2004). The Hope, Hype & Reality of Genetic Engineering: Remarkable Stories from Agriculture, Industry, Medicine, and the Environment / . New York: Oxford University Press. Retrieved March 26, 2008, from Questia database:  http://www.questia.com/PM.qst?a=o&d=102655542 

Baird, S.L. (2007). Designer Babies: Eugenics Repackaged or Consumer Options? The Forces Pushing Humanity towards Attempts at Self-Modification, through Biological and Technological Advances, Are Powerful, Seductive Ones That We Will Be Hard-Pressed to Resist. The Technology Teacher, 66(7), 12+. Retrieved March 26, 2008, from Questia database:  http://www.questia.com/PM.qst?a=o&d=5020442902 

Chris Bennett and Daniel Peckham. August 2002. The genetics of cystic fibrosis [online]. Leeds University Teaching Hospitals, Leeds, UK. Available at   www.questia.com/PM.qst?a=o&d=1000455http://www.cysticfibrosismedicine.com 

However, treatments can be used to reduce, if not nearly completely diminish, symptoms and minimize any other complications. Here are the conditional means:

Therapy: People with cystic fibrosis need a way to physically remove thick mucus from their lungs. This is often done by manually clapping with cupped hands on the front and back of the chest -- a procedure that's best performed with the person's head over the edge of the bed so that gravity helps clear the secretions.

Mucus-thinning drugs: make it easier to cough up the mucus; prescriptive or non-prescriptive drugs, which are used to lessen or reduce the stiffness of mucus, ameliorate lung function.

Medications: Antibiotics are prescribed to treat and prevent any lung infections. They may be swallowed in pill form, inhaled in a mist or delivered intravenously.

Bronchodilators: albuterol is applied through an inhaler or a nebulizer; this relaxes the muscles around the bronchial tubes in order to…...

116). This point is also made by Goozner (2004) who suggests, "Even when a genetic flaw causes disease, it doesn't automatically mean that it can be treated by replacing the defective or missing protein with its biotechnologically created equivalent. Cystic fibrosis is the classic example" (p. 30).
The treatment protocols that are currently in use are therefore designed to address the immediate symptoms of the condition, which in many cases also require some truly aggressive therapy. For example, according to Schubert and Murphy, "Those who are pancreatic insufficient rely on the frequent ingestion of enzyme supplements (often as many as 40 pills per day) to aid digestion and reduce stomach cramping, the use of dietary supplements to aid in weight gain, and, for some, the increased use of supplemental feeding tubes" (Schubert & Murphy, p. 36). The Mayo Clinic reports that still other current treatments for cystic fibrosis include the…...

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References

Drotar, D. (2000). Promoting adherence to medical treatment in chronic childhood illness: Concepts, methods, and interventions. Mahwah, NJ: Lawrence Erlbaum Associates.

Goozner, M. (2004). The $800 million pill: The truth behind the cost of new drugs. Berkeley, CA: University of California Press.

Levinson, R. & Reiss, M.J. (2003). Key issues in bioethics: A guide for teachers. New York: RoutledgeFalmer.

Reid, C.D. (1996, October). Probing the pancreas. FDA Consumer, 30(8), 27-28.

This in turn leads to cytoplasmic water retention and the buildup of viscous mucus in the lungs and other areas of the body. This is particularly problematic for the lungs because the thick mucus impairs clearance of invasive particles and infectious agents to maintain a sterile environment.
Microbial contamination of airway surfaces triggers an inflammatory response, including a massive invasion by neutrophils (odrigues et al., 2008). As the neutrophils react to bacterial contamination of the lung tissue they generate considerable amounts of cellular debris that increases the viscosity of the mucous, primarily by the deposition of genomic DNA and elastase proteins. The result of this process is chronic microbial lung infection, chronic immune-mediated inflammation, and progressive tissue damage. Because cystic fibrosis lung disease is so severe the life expectancy used to be late teens or early adulthood, but the development of more effective methods for disease management has almost doubled…...

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References

Conese, Massimo, Ascenzioni, Fiorentina, Boyd, a. Christopher, Coutelle De Fino, Charles, de Smedt, Stefaan, Rejman, Joanna et al. (2011). Gene and cell therapy of cystic fibrosis: From bench to bedside. Journal of Cystic Fibrosis, 10, S114-S128.

Cystic Fibrosis Foundation. (n.d.). About Cystic Fibrosis: What you need to know. CFF.org. Retrieved 26 Feb. 2012 from  http://www.cff.org/AboutCF/ .

Li, Chunying and Naren, Anjaparavanda P. (2005). Macromolecular complexes of cystic fibrosis transmembrane regulatory and its interacting partners. Pharmacology & Therapeutics, 108, 208-223.

Rodrigues, Roberta, Gabetta, Carmen S., Pedro, Karla P., Valdetaro, Fabio, Fernandes, Maria I.M., Magalhaes, Patricia K.R. et al. (2008). Cystic fibrosis and neonatal screening. Cadernos Saude Publica, 24, s475-484.

cystic fibrosis. There are eleven references used for this paper.
There are a number of fatal diseases which a person can be born with in the world today. One of the most debilitating is Cystic Fibrosis. It is important to examine its history, symptoms, diagnostic procedures, treatments and prognosis in order to gain a better understanding of this disease.

Cystic fibrosis is a "recessive disorder common among Caucasians. Although the disease was known in the 1930's, it was only in the late 1980's that the molecular mechanisms about its development were established (Tsui)." In the United States, "one in 2500 people in the general population is born with cystic fibrosis (http://www.phd.msu.edu/DNA/cf_fam.pdf)."

Cystic fibrosis is sometimes referred to as '65 roses.' This nickname "came from a little boy who overheard his mom talking about the condition on the phone. He thought that each time his mom said 'cystic fibrosis,' she was talking about…...

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Works Cited

Family Guide to Cystic Fibrosis. (accessed 14 July 2004).  http://www.phd.msu.edu/DNA/cf_fam.pdf ).

Andolsek, Kathryn M. A review of approaches to diagnosis of cystic fibrosis. American Family Physician. (1997): 01 June.

Chromosomal Patterns of Inheritance. (accessed 14 July 2004). http://med.usd.edu/som/genetics/curriculum/1DCHROM2.htm).

Cystic Fibrosis. (accessed 14 July 2004).  http://kidshealth.org/teen/diseases_conditions/digestive/cystic_fibrosis.html ).

cystic fibrosis. The writer takes the reader on an exploratory journey about cystic fibrosis and its causes, treatments and future. The writer outlines many aspects of the disease including the enzyme treatments that are currently being studied. There were five sources used to complete this paper.
The medical community has made many amazing discoveries in the last few decades. People are living longer than ever before and the quality of their life has improved along with the quantity. There are many disorders and diseases that are now considered curable or manageable that were once considered fatal. Cystic Fibrosis is a disease however that has baffled the medical community for many years (Santis,2000). Locating its cause, discovering a cure and other pertinent goals have been targeted by research around the world with little success. In recent years however the genetic link and mapping of cystic fibrosis has been pursued with a…...

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References

Plogman, Danielle (2001). U. Iowa licenses gene therapy technique., University Wire, 02-02-2001.

Author not available, (2001).Novel Therapy for Cystic Fibrosis Enters Clinical Trials At Stanford., Business Wire, 03-12-2001.

Cooke, Robert (1993) A Deadly Gene's Big Surprise With hundreds of mutations, the cystic fibrosis gene may cause a variety of ills., Newsday, 08-17-1993, pp 57.

Ricks, Delthia (!997) Living Long With Cystic Fibrosis / Doctors find cases among middle- aged., Newsday, 09-29-1997, pp A19.

Cystic Fibrosis Impact on Lungs Introduction
Cystic Fibrosis (CF) is a genetic and possible genetically inherited disease that affects lungs. It is characterized by buildup of thick and stick mucus that is had to cough out of the lungs. With the accumulation of the thick and sticky mucus, it can result to difficulty in breathing and can lead to other complications including lung infections, liver disease, and diabetes[endnoteRef:1]. CF has also been shown to cause digestive problems and ultimately malnutrition through interference with pancreatic functioning and preventing enzymes which are involved in the breaking down of food. In male, the thick mucus has also been attributed to infertility by blocking the vas deferens. This paper is a detailed presentation on CF and covers diagnosis, treatment, the point at which lung transplant is needed, and how medicine has changed over the years to adapt to children. [1: Cystic fibrosis. U.S. National Library of…...

Health - Nursing
Cystic Fibrosis

Cystic fibrosis is a serious disorder that causes severe lung harm and nutritional deficits. An inherited condition, cystic fibrosis affects the cells that manufacture mucus, sweat and digestive juices. Usually, these secretions are thin and slippery, but in cystic fibrosis patients, a defective gene causes the secretions to become thick and sticky. ather than performing as a lubricant, the secretions stop up tubes, ducts and passageways, particularly in the pancreas and lungs. Cystic fibrosis occurs regularly in white people of northern European ancestry, happening in about one out of three thousand live births. Formerly the majority of people with cystic fibrosis died in their teens. Enhanced screening and treatments currently permit a lot of people with cystic fibrosis to live into their fifties or even longer (Cystic fibrosis, 2011).

A defect in the CFT gene causes cystic fibrosis. This gene produces a protein that manages the progress of…...

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References

Cystic fibrosis. (2011). Mayo Clinic. Retrieved from  http://www.mayoclinic.com/health/cystic-fibrosis/DS00287 

Cystic Fibrosis. (2011). Medicine Net. Retrieved from  http://www.medicinenet.com/cystic_fibrosis/article.htm

Cystic Fibrosis: A Genetic Disorder Affecting the Lungs and Digestive System

Cystic fibrosis (CF) is an inherited genetic disorder that affects multiple organs, primarily the lungs and digestive system (National Heart, Lung, and Blood Institute, 2022). It is caused by mutations in the CFT gene, which encodes a protein responsible for regulating the flow of chloride ions across cell membranes (Cystic Fibrosis Foundation, 2022).

In individuals with CF, the CFT protein is either defective or absent (National Heart, Lung, and Blood Institute, 2022). This leads to a buildup of thick, sticky mucus that clogs the airways and digestive passages.

Pulmonary Manifestations

The most significant impact of CF is on the lungs. The excessive mucus accumulation obstructs the airways, making it difficult to breathe and increasing the risk of infections (Cystic Fibrosis Foundation, 2022). Chronic inflammation and recurrent infections can lead to damage to the lung parenchyma, bronchiectasis (permanent dilatation of the airways), and potentially…...

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References:

1. Cystic Fibrosis Foundation. (2022). About cystic fibrosis.  https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/ 

2. National Heart, Lung, and Blood Institute. (2022). What is cystic fibrosis?  https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis 

3. National Human Genome Research Institute. (2022). Learning about cystic fibrosis.  https://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis 

4. World Health Organization. (2021). Cystic fibrosis. https://www.who.int/news-room/fact-sheets/detail/cystic-fibrosis

Cystic Fibrosis is an inherited disorder which affects the secreting abilities of various glands in the body. These glands are the ones that are considered with both mucus and sweat made in the made. This disease presents with many different symptoms as it affects the lungs, intestines, liver, pancreas, sinuses and the genitals. This paper will go on to talk about the basic etiology of Cystic fibrosis. After the discussing the reasons why this disease happens, it will discuss the signs and symptoms that appear when a person is affected with it. Furthermore, there will be a section on the diagnosis and the proper detection of cystic fibrosis. Lastly, the paper will discuss the different medical treatments that are now present for the disease.
The worldwide incidence of the disease varies from 1 per 377 live births in some parts of England to one per 90,000 live births in Asian-American and…...

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Works cited

Farrell, Philip M. et al. 'Guidelines For Diagnosis Of Cystic Fibrosis In Newborns Through Older Adults: Cystic Fibrosis Foundation Consensus Report'. The Journal of pediatrics 153.2 (2008): 4 -- 14. Print.

FitzSimmons, Stacey C. 'The Changing Epidemiology Of Cystic Fibrosis'. The Journal of pediatrics 122.1 (1993): 1 -- 9. Print.

Gibson, Lewis E, and Robert E. Cooke. 'A Test For Concentration Of Electrolytes In Sweat In Cystic Fibrosis Of The Pancreas Utilizing Pilocarpine By Iontophoresis'. Pediatrics 23.3 (1959): 545 -- 549. Print.

McAlveney, N.G, R, C Hubbard, and P. Brrier. 'Aerosol ?1 -Antitrypsin Treatment For Cystic Fibrosis'. The Lancet 337.8738 (1991): 392-394. Print.

Introduction Cystic fibrosis is a genetic condition with a primary symptom of excessive mucous production and resulting lung infections. It is “the most common fatal hereditary lung disease,” (Mall & Hartl, 2014, p. 1042). Symptoms and severity of the disease varies, but all cases are inherited. On the genetic level, cystic fibrosis is an “autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR),” (Stoltz, Meyerholtz & Welsh, 2015, p. 351). There is no cure for cystic fibrosis, which can be deadly, but treatments for the disease have become more advanced, less invasive, and more effective.
Etiology and Risk Factors
Because cystic fibrosis is congenital, disease etiology is genetic. The disease is most prevalent among Caucasians of Western European ancestry. Cystic fibrosis is known as a Mendelian condition, a disease that is actually caused by only one single gene dysfunction or mutation (Cutting, 2015). Being a…...

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References

Cutting, G.R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature Reviews Genetics 16: 45-56.

Mall, M. A. & Hartl, D. (2014). CFTR: cystic fibrosis and beyond. European Respiratory Journal 2014(44): 1042-1054.

Stoltz, D.A., Meyerholtz, D.K. & Welsh, M.J. (2015). Origins of cystic fibrosis lung disease. The New England Journal of Medicine 372(4): 351-362.

1. Bronchiectasis: A Comprehensive Review of Pathophysiology, Diagnosis, and Management

Introduction: Define bronchiectasis and highlight its prevalence, etiology, and risk factors.
Pathophysiology: Discuss the mechanisms leading to bronchiectasis, including impaired mucociliary clearance and chronic inflammation.
Clinical Manifestations and Diagnosis: Describe the typical symptoms, physical exam findings, and diagnostic tests used to identify bronchiectasis.
Management: Review the current treatment options for bronchiectasis, including antibiotics, airway clearance techniques, bronchodilators, and surgical intervention.
Prognosis and Complications: Discuss the long-term outcomes and potential complications associated with bronchiectasis, such as respiratory failure and hemoptysis.

2. Role of Imaging in Bronchiectasis: CT, MRI, and Beyond

Introduction: Highlight....

I. Introduction
A. Definition of gene editing and its potential applications in medicine
B. Ethical considerations and potential risks

II. Techniques for Gene Editing
A. CRISPR-Cas9 system
B. Other gene editing technologies (e.g., TALENs, ZFNs)
C. Comparison of different techniques

III. Applications of Gene Editing in Medicine
A. Treatment of genetic diseases (e.g., sickle cell anemia, cystic fibrosis)
B. Cancer therapy (e.g., CAR T-cell therapy)
C. Regenerative medicine (e.g., tissue engineering, organ transplantation)

IV. Ethical and Societal Implications of Gene Editing
A. Off-target effects and unintended consequences
B. Long-term health risks and the need for monitoring
C. Concerns about genetic enhancement and the....

Introduction:
Burkholderia cepacia is a Gram-negative bacterium that is often found in soil and water environments. It is considered an opportunistic pathogen that can cause infections in individuals with compromised immune systems, particularly those with cystic fibrosis. In recent years, there has been growing concern about the presence of B. cepacia in pharmaceutical manufacturing facilities, as it has the potential to contaminate products and pose a risk to public health.
Literature Review:
Several studies have been conducted to investigate the presence of B. cepacia in potable and purified water sources within pharmaceutical companies. In a study conducted by Santos et al. (2018), water....