¶ … 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 65 roses (http://kidshealth.org/teen/diseases_conditions/digestive/cystic_fibrosis.html)."
Occurrence of Cystic Fibrosis
In the United States, in "Caucasians with cystic fibrosis:
50% have two copies of ?F508 (the most common mutation)
40% have one copy of the deletion and one other mutation.
10% do not have the ?F508 deletion.
In cystic fibrosis carriers of other ethnic backgrounds, the ?F508 deletion is present in:
45% of Italians
30% of African-Americans
30% of Ashkenazi Jews (http://www.phd.msu.edu/DNA/cf_fam.pdf)."
Symptoms
Cystic fibrosis presents with a number of symptoms. These symptoms can "include:
No meconium stool in first 24 hr. Of life
Stools, pale or clay colored and foul smelling
Stools - floating
Skin may taste salty (infants)
Persistent respiratory infections such as pneumonia
Coughing or wheezing
Weight loss
Clubbing of the fingers or toes
Diarrhea
Delayed growth
Easy fatigue
Splenomegaly (http://www.cysticfibrosis.com/info/index.html)"
Causes of Symptoms
Meconium is a "black, tarry stool-like substance that comes out soon after birth, within the first few days of life (http://www.cysticfibrosis.com/info/index.html)." When a baby is unable to expel this meconium due to a blockage in the bowel, it is referred to as a Meconium Ileus. In a baby with cystic fibrosis, the meconium may not be expelled, "due to the intestinal secretions causing a blockage. Meconium Ileus occurs in approximately 15% of the cases, is a very serious condition, and requires surgery to eliminate the problem within a few hours, or the baby will not survive (http://www.cysticfibrosis.com/info/index.html)."
Patients with cystic fibrosis may not be able to "digest their food correctly due to pancreatic insufficiency, resulting in the production of greasy, bulky, foul-smelling stools (http://www.cysticfibrosis.com/info/index.html)."
Cystic fibrosis may cause a condition known as 'Failure to Thrive', during which a child is unable to "gain weight or grow in height normally (http://www.cysticfibrosis.com/info/index.html)."
Patients with cystic fibrosis may experience reoccurring lung and sinus infections, and have a large amount of secretions in the respiratory system. The formation of secretions occurs when the patient is "unable to clear them because they are thick, and often infected (http://www.cysticfibrosis.com/info/index.html)." These chronic respiratory infections may cause the patient to cough frequently, and patients who also suffer from asthma may experience wheezing.
Sufferers may have nasal congestion from "chronic sinusitis and/or polyps, with nasal polyps requiring surgery.
The patient may be infected with Pseudomonas aeruginosa or Burkholderia cepacia. Bad, or foul-smelling breath may be noticed, that no amount of teeth brushing or breath fresheners can get rid of, usually due to respiratory (lung and/or sinus) infections, such as Pseudomonas aeruginosa, but may also be due to improper digestion (http://www.cysticfibrosis.com/info/index.html)."
The basic symptom is "salty sweat. The patient may also dehydrate easily, find it difficult to gain weight due to malabsorption and fighting infection, experience stomach aches, and have vitamin or mineral deficiency due to malabsorption, especially Vitamin K (http://www.cysticfibrosis.com/info/index.html)."
Diagnosis
In the past 10 years there have been a number of advances in the diagnosis of cystic fibrosis due to research in molecular biology and genetics.
Early diagnosis "of the disease not only can lead to the most appropriate medical management of the patient but also allows for genetic counseling and pulmonary surveillance (Andolsek)."
The "traditional diagnostic criteria for cystic fibrosis include the following: persistently elevated concentrations of electrolytes in sweat along with characteristic clinical findings (such as typical gastrointestinal or pulmonary disease and perhaps obstructive azoospermia) or a family history (Andolsek)."
Sweat testing is the main diagnostic tool used to determine classic cystic fibrosis, however additional tests must be utilized to determine atypical forms of cystic...
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 (CFTR) gene that is found on chromosome 7 has undergone some sort of mutation. Mutation on chromosome 7 alters the production and function of CFTR glycoprotein (Scott, 2013). Studies have identified more than 1600
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
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
" (Karem et al., 1073) With 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
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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
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