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Much of the current clinical practice has evolved over decades without being subjected to high
quality randomised controlled trials. Cystic Fibrosis is inherited in an autosomal recessive manner.
That with the increased infections and the fact that this continues to happen throughout the other
organs causes the patient to be extremely debilitated with the chance of early loss of life. These
results have been applauded in the pharmaceutical industry as a drug. Consequently, the mutation is
transmitted across generations. The new developments in prevention of exacerbations, therapy drugs
and methods to preserve lung function have done. A defective Cystic Fibroses gene makes it difficult
for chloride to move through cells. Cystic fibrous can also be diagnosed through genetic testing, new
born screening and prenatal although they are simple and non-invasive. The first symptom of CF in
infants without meconium ileus, is often poor weight gain at 4. We have 23 pairs, one set from the
mother and the other from the father. Expand 238 Save Restoring airway surface liquid in cystic
fibrosis. F. Ratjen Medicine The New England journal of medicine 2006 TLDR The current
pathophysiological model of cystic fibrosis lung disease assumes that defective expression,
trafficking, or function of the CFTR protein leads to impaired epithelial chloride secretion and
sodium hyperabsorption, which results in the depletion of airway surface liquid and abnormal
mucociliary transport. Imagine drowning, lungs filling with water that swallows the air and
suffocates those caught in it. Evidently, the flows of water and chloride ions across the membranes
are not regulated. One of the most common life threatening conditions is cystic fibrosis. As the
disease progresses to end-stage, the topic of bilateral lung transplantation will need to be discussed.
Dr. Ron Crystal of the National Institutes of Health in the United States. Peterson, J. M. (2002).
Cystic fibrosis. Mankato, Minn.: Life Matters. Wine, J. (2003). Cystic Fibrosis. Stanford University.
This is done by either a genetic test or blood test. There is no chloride channel, so the direction of
osmosis cannot be changed, so water is constantly leaving the mucus. Retrieved November 10, 2012,
from National Heart Lung and Blood Institute. (2011, June 1). What Is Cystic Fibrosis? - NHLBI,
NIH. Being dehydrated, these secretions become more difficult to move throughout the body.
Besides, chlorides have the importance function of helping in the control of water in tissues that help
the production of thin freely flowing mucus (Anne H. Occasionally the donor’s may be available
with history placing them at a high risk for viral infections each hepatitis B or C and HIV. (Stuart J.
Youngner, 2004). Lung transplant being a complex surgery not every patient will be favorable for
lung transplant as some body organs may not be compatible with the transplanted organs. When I
arrived around 9:45am, it was very windy yet sunny that I. Stuart J. Youngner, M. W. (2004).
Transplanting Human Tissue: Ethics, Policy, and Practice. It is caused due to anomaly in the cells
producing mucus. In the U.S alone there are about thirty thousand, who are carriers of the disease,
and about 2,500 babies are born with it each year. The disease is of challenge to many individual
affected. However, treatment can be used only to encounter the spread of the disorder and this can
be done by regular exercises, use of antibiotics, salt supplements, having a well balanced diet high in
kilojoules, fats and proteins and chest physiotherapy regular visits to major CF clinics in
recommendable (Orenstein, 2004).
There are however, treatments for the symptoms and effects of CF that help the patient live a
somewhat. Over time, the repeated lung infections result to an advanced symptom known as lung
scarring. Another important clinical feature included severe respiratory problems in affected children.
Once the patient has been diagnosed with the disease and determines that lung transplanting is the
best way of improving the patient’s wellness and health, the family members and the infected agree
then the patients name and the clinical information in which the transplanting is to take place is
registered with the United Network for Organ Sharing (UNOS). It is a condition whereby the inner
rectal tissue moves out of the rectum due to persistent, heavy coughing or difficulties in passing of
stool. Wickii Vigneswaran, E. G. (Apr 27, 2010). Lung Transplantation. CRC Press. Giddings, S. (
2009). Cystic Fibrosis. Infobase Publishing. Retrieved November 10, 2012, from National Heart
Lung and Blood Institute. (2011, June 1). What Is Cystic Fibrosis? - NHLBI, NIH. Meconium is the
first dark stool that the baby produces. Some factors need to be taken into consideration such the
blood type of the donor. Imagine drowning, lungs filling with water that swallows the air and
suffocates those caught in it. Causes of Cystic Fibrosis Cystic fibrosis has been identified as a
genetic disorder inherited from parents to child. Orenstein, D. M. (2004). ystic Fibrosis: A Guide for
Patient and Family. Cystic fibrosis is the most common lethal inherited disease, affecting about
30,000 patients worldwide. There are several factors that would disqualify an individual from
receiving a lung transplant. Screening programmes have some negative aspects, however. Peterson, J.
M. (2002). Cystic fibrosis. Mankato, Minn.: Life Matters. Wine, J. (2003). Cystic Fibrosis. Stanford
University. The precinct on its pre-historic existence is attributed to its mode of transmission. The
defect causes dehydrated secretions in the respiratory tract and gastrointestinal tract. The first
suggestion of cystic fibrosis being an inherited disorder came from Philip Howard who reviewed
familial occurrence of the fibrocystic disease of the pancreas (Howard, 330-332). This medical
uncertainty could lead to psychosocial consequences, including anxiety. Process involved in placing a
patient on a transplant list. For determining if the your child has Cystic Fibrosis the first test that will
be done when they are newborns. Wolfe Pavel Drevinek January 2019 John Paul Clancy Calvin U.
The stunted or slow weight gain in children is primarily due to insufficient nutrient absorption by the
body. Furthermore, the patient’s nasal tract is inflamed and characterized by a running or stuffy
nose. On of these treatments involves regular physiotherapy and a nasal spray has been developed
using genetic engineering and these are helping to alleviate the symptoms. The progress of gene
therapy, nutritional treatments and antibiotics for CF is extending the life span of sufferers. In most
cases, the CFdisease is not manifested in the parents. Moreover, the mucus build up creates a
conducive environment for the growth of bacteria. I think it is important for members of a
community to engage in some helpful way because it is.
Meconium is the first dark stool that the baby produces. Lung donors are screened prior to donation
based on the present screening practices. Moreover, a normally functioning CFTR gene regulates the
quantity of water in the mucus. There is an identification process to tell if a person is a carrier of
Cystic Fibrosis. This is 100% legal. You may not submit downloaded papers as your own, that is
cheating. Also you. It was denoted by the taste of salt on a Childs forehead when kissed by a parent.
As a result, the cells that line the passageways of the pancreases and lungs produce unusual sticky
and thick mucus. Moreover, excessive and thick amounts of mucus block the cervix and reduce
fertility or results into pregnancy complications. Lung transplanting can be a live saving surgery but
can also turn out to be very dangerous to the patients who receive the transplanted lungs. In men, the
disease can result in infertility while in women, it reduces the chances of getting pregnant.
Eventually, there results an excessive production of mucus that is characteristically thick and has
insufficient water content. I choose the Cystic Fibrosis Foundation project on April 30th 2016
because it was close to my hometown which is Pittsburg. Once the patient has been diagnosed with
the disease and determines that lung transplanting is the best way of improving the patient’s wellness
and health, the family members and the infected agree then the patients name and the clinical
information in which the transplanting is to take place is registered with the United Network for
Organ Sharing (UNOS). Over time, the repeated lung infections result to an advanced symptom
known as lung scarring. Depending on the situation or availability of resources will determine which
test the doctor will perform. False, CF is the most common fatal genetic disease in the U.S. today.
There are over 30,000 people affected with CF in the United States. Cystic Fibrosis is not very
common in the United States. Cystic Fibrosis is a severe hereditary disease that infects the lungs,
digestive system, sweat. I do not know much about Cystic Fibrosis Foundation until I research it on
the Internet the day before the. For example, within the lungs, cystic fibrosis results in mucus build
up that affects the sterility of its surface. What causes cystic fibrosis. (2013). Retrieved from. From
the measurements of FEV1 and FVC, they are compared with the normal birthing measurements
your age to identify the lung problem. This test is necessitated on the basis that carries do not exhibit
any symptoms. Moreover, the test is necessary for couples planning for a pregnancy. The life
expectancy is getting longer, from 10 years to around 40 years of age. Moreover, the patient may
exhibit clubbing whereby the tips of the finger and toes become wider and round. By continuing
we’ll assume you’re on board with our. Keep on browsing if you are OK with that, or find out how
to manage cookies. In reference to the digestive system, the patients affected by cystic fibrosis
exhibit malnutrition problems. These include poor weight gain, stunted growth, physical weakness,
persistent hunger pangs and delayed puberty. The current drug to counteract cystic fibrosis is the one
that mutates the 2000cystic fibrosis transmembrane conductance regulator (Giddings, 2009).
Consequently, with intervention treatment such as proper nutrition, respiratory therapy and exercise
offers a chance for a longer and improved quality of life for the CF patients.
The 1970’s was marked by innovations into neonatal screening for the disease. In men, the disease
can result in infertility while in women, it reduces the chances of getting pregnant. Komaroff, A. L.
(2005). Harvard Medical School Family Health Guide. Expand 28 Save Cystic fibrosis: molecular
biology and therapeutic implications. F. Collins Medicine, Biology Science 1992 TLDR Several new
approaches to drug therapy for cystic fibrosis are now emerging, and the possibility of successful
gene therapy by transfer of the normal gene to airway epithelial cells is being vigorously pursued. I
attended many of the yearly educational days, as it. Since this experiment entailed investigating the
effects of salbutamol treatment on response of ileum to acelytecholine, it is certainly clear from the
graph that the use of acetylecholine did cause a decrease in the ileum sensitivity to the contractile
action of agonist Nocotine. The e lung location system is calculated medical information like
pulmonary artery pressure, diabetes, and pulmonary capillary wedge pressure, and age, oxygen at
rest, functional status, PC02, forced vital capacity, and Body Mass Index (BMI). To collect the
sweat, the area is covered with gauze pad or filter paper and wrapped in plastic. Furthermore, CF
carrier testing is done to establish if a person possesses the defective gene. Include the intended use
of the product and the evidence supporting its use. Thus, one with the CF carrier is identified with
the presence of one faulty CFTR gene and one normal CFTR gene. When certain tubes get blocked
it makes it to where your intestines cant fully absorb different nutrients.show more content. Protein
Production Mutations include splice mutations. The Latino community is equally highly susceptible
to the disease. There are several factors that would disqualify an individual from receiving a lung
transplant. True, the airways, pancreas, liver, sweat glands, skin and small intestine are some of the
organs that do not function properly due to the blockage of. For every lung transplant for a patient
over the age of 12, a lung location score must be calculated to determine prior lung donor this is
done by a lung allocation system. It is a disease that is genetically inherited by the child from his or
her parents who either have the gene or are carriers of. The harm it does is that there is poor growth,
many respiratory infections, breathing difficulties and permanent lung damage. By continuing, you
agree to our Terms and Conditions. It is caused due to anomaly in the cells producing mucus.
Occasionally the donor’s may be available with history placing them at a high risk for viral infections
each hepatitis B or C and HIV. (Stuart J. Youngner, 2004). As a consequence of the lesion in
chloride transport patients' lungs become covered with sticky mucus. As the following text has it,
this gene mutation blocks chloride transport causing Cystic Fibrosis. Thirdly, social support that
involve determining the potential of having adequate and stable immune system that can enable
transplanting and lastly Psychology Evaluation done by a psychiatrist or psychologist to determine
whether you will comply with the required treatment regimen before and after transplant. The defect
in the gene arises from mutation in the Cystic Fibrosis Trans-membrane Conductance Regulator
(CFTR). After 30-40 minutes, the plastic is removed and the sweat on the pad or paper is analyzed.
Evidently, the excessive coughs are in response to the heavy mucus build up in the lungs that are
sticky and inflame the lungs (Alma, 2008). A well balanced, high calorie diet, high in protein and
pancreatic enzymes that helps digestion. Moreover, research on the diseases has improved man’s
comprehension of genes, cells and proteins that interlock in a complex interaction to produce organ
level disorders.
Consequently, a sweat test is conducted to ascertain the quantity of salt available in the sweat
(Orenstein, 2004). Historical Overview of Cystic Fibrosis The exact date on the first case of cystic
fibrosis has not yet been clearly established. Scientist have spent years trying to put these thousands
of. They investigated 56 families from literature and 47 of their own families to come to the
conclusion that the incidence of the disorder follows the Mendelian recessive inheritance which
approximated the incidence in siblings as 25% as expected of a Mendelian recessive condition which
required more than one factor for expression (Andersen and Hodges, 62-80). Patients are usually
diagnosed by the age of two but, a few rare causes are not diagnosed until the age of eighteen.
Another symptom of the respiratory tract relates to the difficulty in breathing such as breathlessness
and wheezing. To this end, medical researchers believe that the original genetic mutation may have
occurred more than fifty thousand years back. We use cookies to create the best experience for you.
There are several factors that would disqualify an individual from receiving a lung transplant.
Supplements of vitamins A, D, E and K are given to ensure good nutrition. Times of particular stress
include diagnosis, adolescence when adherence to treatment can often be poor, and end of life.
These was through collaborative efforts of parents with children affected by the genetic disorder as
well as the few, lucky adult patients. To better provide insight of cystic fibrosis, an intricate
understanding is essential on its historical evolution, causes, signs and symptoms, prevalence rates,
treatment and management. When an organ in available from an eighteen year old or older donor it is
initially offered to a recipient twelve years and older, if no recipient is compatible, it will then be
offered to less than twelve years old. No matter the incurable status of the disease, treatment
depends on the stage of the disease and the specific organ to be transplanted. That with the
increased infections and the fact that this continues to happen throughout the other organs causes the
patient to be extremely debilitated with the chance of early loss of life. Furthermore, with repeated
lung infections, the situation deteriorates to the point of permanent lung damage (Peterson, 2002).
Abnormally thick, abundant secretions from mucous glands can lead to a chronic, diffuse, and
obstructive pulmonary disorder in almost all patients. IF the CFTR gene has a splice mutation the
protein building instructions send a signal that. The breathing problems arise from constriction of the
lungs due to inflammation caused on the air pathways. One of the most common life threatening
conditions is cystic fibrosis. Many tests may be performed before a person is ever diagnosed with
Cystic Fibrosis. To this end, the condition is characterized by lwo bone density in patients.
Consequently, Dr Franconi, a Swiss pediatrician, is credited with documenting the first paper on
cystic fibrosis. A sweat chloride test is the definitive test to diagnose CF. On of these treatments
involves regular physiotherapy and a nasal spray has been developed using genetic engineering and
these are helping to alleviate the symptoms. The progress of gene therapy, nutritional treatments and
antibiotics for CF is extending the life span of sufferers. To this end, contemporary research has
failed to discover for cystic fibrosis. Cystic fibrosis is a genetic disease and it is caused by a mutation
of a single allele. C is very organized and has good time management skills. Cystic Fibrosis is
inherited in an autosomal recessive manner.
As from transplantation Network there were 1,800-lung transplant in united state. It is caused due to
anomaly in the cells producing mucus. There will also be evaluations with the transport team, social
worker, and psychiatrist. In conjunction with the medications, airway clearance is essential part of
the treatment plan. In effect, CPT involves repeated pounding of the patient’s chest with a device
such as an electric chest slapper or the use of hands. Bronchodilators (Albuterol, Xopenex),
mucolytics (Pulmozyme and hypertonic saline) thin the thick secretions, inhaled antibiotics, like
Tobramycin, treat pseudomonas aeruginosa infection. In effect, the signs and symptoms are usually
manifested in either or the entire following organs; respiratory, digestive and reproductive organs.
Other medical researchers from the Oxford University Gene Medicine believe that the first case of
Cystic Fibrosis occurred in Germany 400 years ago. GIT Manifestations. Diagnosis. Treatment
Cystic Fibrosis. Carriers do not show the symptoms of CF, as they have one working gene, but they
may pass a copy of the defective gene onto their children. Lung function test is a test used to
measure the amount of air one can breathe in and out, how good the lungs deliver oxygen to the
blood and how fast air is breathe out by use of spirometer machine. As a result, the mucus produced
is thin and flows freely. A donor who was less than twelve years old organ is first offered to a
recipient that is also less than twelve years old, if no one is compatible then it is offered to twelve to
seventeen years old recipient, finally if no compatible recipient is available it will be offered to
eighteen years and old recipients. Periodically CF patients require hospitalizations to receive more
aggressive airway clearance and intravenous antibiotics. Some applicants meet the qualifying criteria
but their illness is not advanced enough for them to be placed on the waiting list for a lung
transplant. Consequently, Dr Franconi, a Swiss pediatrician, is credited with documenting the first
paper on cystic fibrosis. The harm it does is that there is poor growth, many respiratory infections,
breathing difficulties and permanent lung damage. It becomes complicated since many symptoms of
these diseases begin in. Evidently, the lung function tests aims at establishing the breathing rate and
testing the oxygen carrying capacity of the lungs. Moreover, the sputum test aims at discovering the
progression rate of the CF disease and whether more advanced treatment is necessary. In Cystic
Fibrosis, the patient has a defective Cystic Fibroses gene. Cystic Fibrosis is not very common in the
United States. Cystic fibrous can also be diagnosed through genetic testing, new born screening and
prenatal although they are simple and non-invasive. Eventually, there results an excessive production
of mucus that is characteristically thick and has insufficient water content. The most common
mutation is the loss of phenylalanine residue at deltaF508. Since transplantation is a complex process
and an aggressive procedure, there are guidelines for referring a CF patient for lung transplantation.
The stunted or slow weight gain in children is primarily due to insufficient nutrient absorption by the
body. Failure to grow, persistent cough with mucus production, and large frequent bowel movements
are early. Barrow Motor Ability Test - TEST, MEASUREMENT AND EVALUATION IN
PHYSICAL EDUC. After 30-40 minutes, the plastic is removed and the sweat on the pad or paper is
analyzed.
Causes of Cystic Fibrosis Cystic fibrosis has been identified as a genetic disorder inherited from
parents to child. Unleashing the Power of AI Tools for Enhancing Research, International FDP on.
According to statistical data, carriers of the defective CF gene are approximately 10 million in the
United States (National Heart Lung and Blood Institute, 2011). The primarily important use of
spirometry is measuring and recording the rate of how active an individual's lung function is, while
majorly focusing on the amount and rate of air flow in an out of the lungs. Cystic Fibrosis (CF) is an
autosomal recessive gene that causes a wide range of symptoms because there are over 1,000
changes or mutations that can. On the other hand, the genetic tests are aimed at identifying a
defective CFTR gene in the newborn. This causes abnormal mucus secretions and salt loss in the
body. The phenotype or physical appearance of anyone with the autoimmune disease cystic fibrosis
varies, as there are multiple possibilities and combinations, but have many recurring traits. CF is a
chronic condition therefore the patients are either seeking medical attention or receiving (sometime
involuntarily) a great deal of medical. The most complication after the lung transplant is the damage
of the immune system rejection; it may cause cancer and other infection (Hopkin, 2010). Newborn
screenings are performed in every state and include testing for CF. This disease a hereditary disorder
of the exocrine glands that is characterized by respiratory and digestive problems and the most
common inherited disease among Caucasians, affecting 3,600 live births in the Canada alone.
Psychologist can help patients cope with emotional and. There is no chloride channel, so the direction
of osmosis cannot be changed, so water is constantly leaving the mucus. Thus, one with the CF
carrier is identified with the presence of one faulty CFTR gene and one normal CFTR gene.
Furthermore, the stool produced has a pungent smell, bulky and greasy. Moreover, it is dependent on
the severity or projection of the disease. Genetic engineering: techniques, benefits and risks. Each
group member wrote their own research paper about the disease in addition to the presentation. In
contrast, cystic fibrosis is less prevalent among Asian Americans and African Americans. A donor’s
organ from a twelve to seventeen years old would initially be offered to a recipient that is also twelve
to seventeen years old, if no recipient was avail it would then be offered to a less than twelve years
old recipient, and if no recipient was compatible then it would be offered to a recipient that was
eighteen years or older group. If the gene in the DNA is mutated, the mRNA produced in
transcription will code for the wrong sequence of amino acids, so the protein made by the mRNA in
translation will be the wrong shape, and therefore will not function correctly. Standard principles of
care is the optimal service provided from the centre to improve prognosis for patients with CF.
However, scientists have come up with many ways of coping up with the situation by developing
many survival chances Lung transplant being one of it nevertheless the risks accompanied by it. To
better provide insight of cystic fibrosis, an intricate understanding is essential on its historical
evolution, causes, signs and symptoms, prevalence rates, treatment and management. Diagnosis and
Treatment of Cystic Fibrosis The diagnostic procedure of cystic fibrosis is conducted via several
tests. You will be able to get a quick price and instant permission to reuse the content in many
different ways. Other significant signs and symptoms of CF include; fatigue, low blood pressure,
and dehydration due to insufficient fluid. This disease makes it hard to breath and causes serious
lung infections. S. Karger AG, K. (2001). Cystic Fibrosis: A State-of-the-Art Series.