A mother brings her 6-month-old daughter and 23-month-old son to the doctor due to symptoms potentially related to cystic fibrosis. The daughter is not gaining weight and has episodes of crying after eating. The son has had multiple episodes of chest congestion and pneumonia. Cystic fibrosis is caused by a genetic mutation that affects the CFTR protein, disrupting ion transport in epithelial cells of organs like the lungs and pancreas. This leads to a buildup of thick, sticky mucus that blocks pancreatic enzymes and promotes lung infections. The mother's children are presenting symptoms consistent with this condition and its effects on digestion and airway clearance.
Respond to your colleagues and respectfully agree or disagree .docxcwilliam4
Respond
to your colleagues and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not
At least 2 references in each peer responses!
Cystic fibrosis (CF) is an inherited disease that affects mainly the gastrointestinal system, the reproductive system, and the lungs (McCance & Huether, 2019, pp 2171). The cystic fibrosis gene “is located on chromosome 7” with more than 2000 variants of the disease. They are divided into six classes, 1 through 3 being the more severe ones. The triad of Cystic fibrosis is “obstruction, infection, and inflammation that is evident throughout the gastrointestinal tract and within the airways” (McCance & Huether, 2019, pp 2871). The gastrointestinal problems are caused by the CF transmembrane regulator (CFTR) protein, “which is located on epithelial membranes and regulates chloride and sodium ion channels (McCance & Huether, 2019, pp 2870). You can find that protein through the airways, sweat glands, digestive tract, pancreas, hepatobiliary system, and reproductive system. The CFTR protein alters the reabsorption of sodium, chloride, and potassium (McCance & Huether, 2019, pp 2871), which gives kids skin a salty taste when parents kiss them because of the excessive salt they waste through sweat glands. It also interferes with the absorption of nutrients in those affected by the disease because it “leads to a dehydrated intestinal mucin layer and inspissated secretions” (Reed & Shores, 2020), which makes all the gut secretions thick and mucusy. This altered environment causes inflammation, pain, slow motility, and overgrowth of bacteria. Also, sixty-seven percent of CF kids may suffer from reflux due to “delayed gastric emptying and impaired gut motility” (Reed & Shores, 2020), among other reasons.
In terms of reproduction, if none of the parents have been diagnosed with CF and had children diagnosed with the disease, it means that both have to be carriers. The risk of knowing if they are going to have more kids with CF depends entirely on knowing their carrier’s status (Horsley, Cunningham, & Innes, 2015, pp147). In the case presented, to have a positive CF patient, both parents at least have to be carriers. The probability with parents being both carriers is 1:4 of having CF kids (Horsley, Cunningham, & Innes, 2015, pp 2).
.
Cystic FibrosisCreated By Tammy Wagner, Karen Byfield, Sherry.docxalanrgibson41217
Cystic Fibrosis
Created By: Tammy Wagner, Karen Byfield, Sherry Santineau, Jack Lavoie, Shawna Maggard
Objectives:
To define Cystic Fibrosis
To explain and discuss history and causes of Cystic Fibrosis
To describe impact of Cystic Fibrosis in healthcare and nursing.
Identify and recognize that living with a chronic disease like cystic fibrosis is possible through maintaining a balanced lifestyle.
Identify expected outcomes in patients with Cystic Fibrosis
Collect and explain health screenings, health interventions, health promotion and education in patients with Cystic Fibrosis
Identify national and community resources for patients with Cystic Fibrosis
Describe effects of CF on prenatal care and child bearing
Identify occupational consideration and job hazards related to CF
Identify and describe susceptibility to substance abuse and ability to cope with stress
Description:
Cystic Fibrosis is a genetic disease of the secretory glands that affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.
Definition:
Cystic Fibrosis is characterized by an abnormally thick and sticky production of mucus in the body.
Mucus is normal in the body, it lubricates and protects passages such as the respiratory airways and digestive tract (Genetics Home Reference. 2017). Cystic Fibrosis is a mutation in the the Cystic Fibrosis Transmembrane Regulator (CFTR) gene that causes the over production of thick, sticky mucus that can block these passages and create breeding grounds for infection (National Human Genome Research Institute 2013). This infection can lead to scaring, permanent lung damage and even death. This mucus in the digestive tract can prevent the absorption of nutrients leading to weight loss, malnutrition, failure to thrive, as well as numerous long term problems caused from poor nutrition even though the person may be eating a solid health diet (Genetics Home Reference. 2017). The affects this mucus has on the pancreas can alter insulin production leading to diabetes. Reproductive health is also affected from the mucus produced from cystic fibrosis often leading to infertility (Genetics Home Reference. 2017).
3
History
1938- American Pathologist Dr. Dorothy Andersen named the disease cystic fibrosis of the pancreas
Early 1900’s- Physicians name the disease mucoviscidosis
1595- Texts reference the link between children with salty skin and early death rates
1948- Dr. Paul di Sant’Agnese noted the correlation of increased salt in sweat of CF patients
1989- The gene (CFTR) was identified and its genetic code was sequenced
1938, American Pathologist Dr. Dorothy Andersen described a disorder in medical literature based on autopsy findings of children that died from malnutrition; She named the disease cystic fibrosis of the pancreas (Nick 2012). The disease has also been called mucoviscidosis by other physician during the same time period because of the thick mucus present (Nick 2012). Children in the middle ages we.
The cystic diseases in various organs were observed in the anatomy and OBG depaartment, in that
the polycystic disease of ovary was very common compared to all other organs cystic diseases.
Respond to your colleagues and respectfully agree or disagree .docxcwilliam4
Respond
to your colleagues and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not
At least 2 references in each peer responses!
Cystic fibrosis (CF) is an inherited disease that affects mainly the gastrointestinal system, the reproductive system, and the lungs (McCance & Huether, 2019, pp 2171). The cystic fibrosis gene “is located on chromosome 7” with more than 2000 variants of the disease. They are divided into six classes, 1 through 3 being the more severe ones. The triad of Cystic fibrosis is “obstruction, infection, and inflammation that is evident throughout the gastrointestinal tract and within the airways” (McCance & Huether, 2019, pp 2871). The gastrointestinal problems are caused by the CF transmembrane regulator (CFTR) protein, “which is located on epithelial membranes and regulates chloride and sodium ion channels (McCance & Huether, 2019, pp 2870). You can find that protein through the airways, sweat glands, digestive tract, pancreas, hepatobiliary system, and reproductive system. The CFTR protein alters the reabsorption of sodium, chloride, and potassium (McCance & Huether, 2019, pp 2871), which gives kids skin a salty taste when parents kiss them because of the excessive salt they waste through sweat glands. It also interferes with the absorption of nutrients in those affected by the disease because it “leads to a dehydrated intestinal mucin layer and inspissated secretions” (Reed & Shores, 2020), which makes all the gut secretions thick and mucusy. This altered environment causes inflammation, pain, slow motility, and overgrowth of bacteria. Also, sixty-seven percent of CF kids may suffer from reflux due to “delayed gastric emptying and impaired gut motility” (Reed & Shores, 2020), among other reasons.
In terms of reproduction, if none of the parents have been diagnosed with CF and had children diagnosed with the disease, it means that both have to be carriers. The risk of knowing if they are going to have more kids with CF depends entirely on knowing their carrier’s status (Horsley, Cunningham, & Innes, 2015, pp147). In the case presented, to have a positive CF patient, both parents at least have to be carriers. The probability with parents being both carriers is 1:4 of having CF kids (Horsley, Cunningham, & Innes, 2015, pp 2).
.
Cystic FibrosisCreated By Tammy Wagner, Karen Byfield, Sherry.docxalanrgibson41217
Cystic Fibrosis
Created By: Tammy Wagner, Karen Byfield, Sherry Santineau, Jack Lavoie, Shawna Maggard
Objectives:
To define Cystic Fibrosis
To explain and discuss history and causes of Cystic Fibrosis
To describe impact of Cystic Fibrosis in healthcare and nursing.
Identify and recognize that living with a chronic disease like cystic fibrosis is possible through maintaining a balanced lifestyle.
Identify expected outcomes in patients with Cystic Fibrosis
Collect and explain health screenings, health interventions, health promotion and education in patients with Cystic Fibrosis
Identify national and community resources for patients with Cystic Fibrosis
Describe effects of CF on prenatal care and child bearing
Identify occupational consideration and job hazards related to CF
Identify and describe susceptibility to substance abuse and ability to cope with stress
Description:
Cystic Fibrosis is a genetic disease of the secretory glands that affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.
Definition:
Cystic Fibrosis is characterized by an abnormally thick and sticky production of mucus in the body.
Mucus is normal in the body, it lubricates and protects passages such as the respiratory airways and digestive tract (Genetics Home Reference. 2017). Cystic Fibrosis is a mutation in the the Cystic Fibrosis Transmembrane Regulator (CFTR) gene that causes the over production of thick, sticky mucus that can block these passages and create breeding grounds for infection (National Human Genome Research Institute 2013). This infection can lead to scaring, permanent lung damage and even death. This mucus in the digestive tract can prevent the absorption of nutrients leading to weight loss, malnutrition, failure to thrive, as well as numerous long term problems caused from poor nutrition even though the person may be eating a solid health diet (Genetics Home Reference. 2017). The affects this mucus has on the pancreas can alter insulin production leading to diabetes. Reproductive health is also affected from the mucus produced from cystic fibrosis often leading to infertility (Genetics Home Reference. 2017).
3
History
1938- American Pathologist Dr. Dorothy Andersen named the disease cystic fibrosis of the pancreas
Early 1900’s- Physicians name the disease mucoviscidosis
1595- Texts reference the link between children with salty skin and early death rates
1948- Dr. Paul di Sant’Agnese noted the correlation of increased salt in sweat of CF patients
1989- The gene (CFTR) was identified and its genetic code was sequenced
1938, American Pathologist Dr. Dorothy Andersen described a disorder in medical literature based on autopsy findings of children that died from malnutrition; She named the disease cystic fibrosis of the pancreas (Nick 2012). The disease has also been called mucoviscidosis by other physician during the same time period because of the thick mucus present (Nick 2012). Children in the middle ages we.
The cystic diseases in various organs were observed in the anatomy and OBG depaartment, in that
the polycystic disease of ovary was very common compared to all other organs cystic diseases.
John is 5 years old and was diagnosed with cystic fibrosis following.pdfmohdjakirfb
John is 5 years old and was diagnosed with cystic fibrosis following intestinal obstruction after
birth. He has frequent infections despite respiratory therapy. Answer the following question
regarding Cystic Fibrosis.
1)John’s parents would like to have another child. What is the probability that the child will have
cystic fibrosis?
2)Describe the basic pathophysiology of cystic fibrosis and the effects in the body.
3)What are the effects on airflow of mucus obstruction in the lungs?
4)Why does John have frequent infections?
5)Why does John have fluid-electrolyte imbalances particularly when experiencing a high fever?
Solution
1) Since Cystic Fibrosis is an autosomal recessive disease, the chances of its occurrence are 1 in
four births. John\'s first child is having Cystic Fibrosis, still, the chance is 25% for the next child
to have the disease. The child may or may not have cystic fibrosis.
2) In cystic fibrosis, there is a mutation in the CFTR gene and different mutation in the gene
cause different protein formation which results in mild or severe disease. The gene is responsible
for the formation of a protein that anchors on the outer walls of the exocrine glands including
lungs, pancreas and sweat glands. The encoded protein creates a channel which is responsible for
the movement of halogens from inside and outside of the body. the nonfunctioning of the protein
results in the blockage of the channels of the affected organs and causes infection and
remodeling of the lungs. There is damage in the digestive system due to the accumulation of
digestive enzymes. Due to this, there are chances that the patient will acquire chronic infection
and proliferation of bacteria in the accumulated mucus in the lungs.
3) The airflow in the lungs gets affected in cystic fibrosis as there is deposition of mucus in the
small airways of the lungs. Since the mucus gets lined is dehydrated and is difficult to clear and
eventually obstructs the air pathway causing the destruction in alveoli and deposition of foreign
particles in the airways. This can lead to frequent chronic infections.
4) The reason behind the frequent infection of John is the mucus deposition in the air pathways
which leads to the proliferation of bacteria in the nutrient-rich mucus. These bacteria forms
biofilms inside which is difficult for the immune cells to penetrate and which makes the
condition severe.
5) This condition of John is due to the improper transfer of ions in the body due to the narrowing
of the channels. This gets severe as the body fights with the soaring body temperature as well as
the defect in the channels of ions transport..
Respond to your colleagues and respectfully agree or disagree with.docxcwilliam4
Respond
to your colleagues and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not
At least 2 references in each peer responses!
Cystic Fibrosis is an autosomal recessive disease that affects chromosome 7 on the DNA helix. The parents of the child with cystic fibrosis are both carriers of the disorder and likely have no symptoms and have no idea they are carriers. The disease is caused by a mutation in cystic fibrosis transmembrane regulator (CFTR). The CFTR regulates the flow of salt and fluids in and out of the cell. The CFTR protein provides instructions for the channel than transports negatively charged particles called chloride ions in and out of the cell and across the tissues. The lack of this channel causes the build-up of thick and sticky mucus because chloride helps with the movement of water across the tissues that assist with thinning the mucus. (CF Genetics: The Basics, 2020)
The organs that are affected most frequently are the lungs, digestive organs, pancreas, and reproductive organs. The thick mucus causes frequent lung infections and the cyst in the lungs. The thick mucus blocks the ducts of the pancreas and prevents the transport of digestive enzymes leading to malnutrition. The production of insulin is also affected by the thick mucus and cystic fibrosis patients can develop diabetes-related to this. Males with cystic fibrosis are infertile due to mucus plugging the vas deferens. Female with cystic fibrosis frequently have difficulty during pregnancy (Cystic Fibrosis, 2020).
Cystic fibrosis is a recessive disease and both parents must be carries to produce a child who has cystic fibrosis. The chances of two carriers having a child with cystic fibrosis are 25% and the chances that the child will have a 50% chance they are a carrier of the mutation and a 25% chance that the child will not be a carrier or have the disease. The person with cystic fibrosis has a child with a cystic fibrosis carrier then they have a 50% chance the child will have cystic fibrosis and a 50% chance they will be a carrier (Cystic Fibrosis, n.d.).
Cystic fibrosis is common in the Caucasian population with a frequency rate of 1 in 2500-3500 births. African American have a frequency rate of 1-17000 and Asian population have a frequency rate of 1-3100 births (CF Genetics: The Basics, 2020)
.
John is 5 years old and was diagnosed with cystic fibrosis following.pdfmohdjakirfb
John is 5 years old and was diagnosed with cystic fibrosis following intestinal obstruction after
birth. He has frequent infections despite respiratory therapy. Answer the following question
regarding Cystic Fibrosis.
1)John’s parents would like to have another child. What is the probability that the child will have
cystic fibrosis?
2)Describe the basic pathophysiology of cystic fibrosis and the effects in the body.
3)What are the effects on airflow of mucus obstruction in the lungs?
4)Why does John have frequent infections?
5)Why does John have fluid-electrolyte imbalances particularly when experiencing a high fever?
Solution
1) Since Cystic Fibrosis is an autosomal recessive disease, the chances of its occurrence are 1 in
four births. John\'s first child is having Cystic Fibrosis, still, the chance is 25% for the next child
to have the disease. The child may or may not have cystic fibrosis.
2) In cystic fibrosis, there is a mutation in the CFTR gene and different mutation in the gene
cause different protein formation which results in mild or severe disease. The gene is responsible
for the formation of a protein that anchors on the outer walls of the exocrine glands including
lungs, pancreas and sweat glands. The encoded protein creates a channel which is responsible for
the movement of halogens from inside and outside of the body. the nonfunctioning of the protein
results in the blockage of the channels of the affected organs and causes infection and
remodeling of the lungs. There is damage in the digestive system due to the accumulation of
digestive enzymes. Due to this, there are chances that the patient will acquire chronic infection
and proliferation of bacteria in the accumulated mucus in the lungs.
3) The airflow in the lungs gets affected in cystic fibrosis as there is deposition of mucus in the
small airways of the lungs. Since the mucus gets lined is dehydrated and is difficult to clear and
eventually obstructs the air pathway causing the destruction in alveoli and deposition of foreign
particles in the airways. This can lead to frequent chronic infections.
4) The reason behind the frequent infection of John is the mucus deposition in the air pathways
which leads to the proliferation of bacteria in the nutrient-rich mucus. These bacteria forms
biofilms inside which is difficult for the immune cells to penetrate and which makes the
condition severe.
5) This condition of John is due to the improper transfer of ions in the body due to the narrowing
of the channels. This gets severe as the body fights with the soaring body temperature as well as
the defect in the channels of ions transport..
Respond to your colleagues and respectfully agree or disagree with.docxcwilliam4
Respond
to your colleagues and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not
At least 2 references in each peer responses!
Cystic Fibrosis is an autosomal recessive disease that affects chromosome 7 on the DNA helix. The parents of the child with cystic fibrosis are both carriers of the disorder and likely have no symptoms and have no idea they are carriers. The disease is caused by a mutation in cystic fibrosis transmembrane regulator (CFTR). The CFTR regulates the flow of salt and fluids in and out of the cell. The CFTR protein provides instructions for the channel than transports negatively charged particles called chloride ions in and out of the cell and across the tissues. The lack of this channel causes the build-up of thick and sticky mucus because chloride helps with the movement of water across the tissues that assist with thinning the mucus. (CF Genetics: The Basics, 2020)
The organs that are affected most frequently are the lungs, digestive organs, pancreas, and reproductive organs. The thick mucus causes frequent lung infections and the cyst in the lungs. The thick mucus blocks the ducts of the pancreas and prevents the transport of digestive enzymes leading to malnutrition. The production of insulin is also affected by the thick mucus and cystic fibrosis patients can develop diabetes-related to this. Males with cystic fibrosis are infertile due to mucus plugging the vas deferens. Female with cystic fibrosis frequently have difficulty during pregnancy (Cystic Fibrosis, 2020).
Cystic fibrosis is a recessive disease and both parents must be carries to produce a child who has cystic fibrosis. The chances of two carriers having a child with cystic fibrosis are 25% and the chances that the child will have a 50% chance they are a carrier of the mutation and a 25% chance that the child will not be a carrier or have the disease. The person with cystic fibrosis has a child with a cystic fibrosis carrier then they have a 50% chance the child will have cystic fibrosis and a 50% chance they will be a carrier (Cystic Fibrosis, n.d.).
Cystic fibrosis is common in the Caucasian population with a frequency rate of 1 in 2500-3500 births. African American have a frequency rate of 1-17000 and Asian population have a frequency rate of 1-3100 births (CF Genetics: The Basics, 2020)
.
Operation “Blue Star” is the only event in the history of Independent India where the state went into war with its own people. Even after about 40 years it is not clear if it was culmination of states anger over people of the region, a political game of power or start of dictatorial chapter in the democratic setup.
The people of Punjab felt alienated from main stream due to denial of their just demands during a long democratic struggle since independence. As it happen all over the word, it led to militant struggle with great loss of lives of military, police and civilian personnel. Killing of Indira Gandhi and massacre of innocent Sikhs in Delhi and other India cities was also associated with this movement.
Read| The latest issue of The Challenger is here! We are thrilled to announce that our school paper has qualified for the NATIONAL SCHOOLS PRESS CONFERENCE (NSPC) 2024. Thank you for your unwavering support and trust. Dive into the stories that made us stand out!
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Cystic Fibrosis.docx
1. Pathophysiology: Cystic Fibrosis Essay.
Pathophysiology: Cystic Fibrosis Essay. A mother brings her 6-month-old daughter to the
HCP for evaluation of possible colic. The mother says the baby has had many episodes of
crying after eating and, despite having a good appetite, is not gaining weight. The mother
says the baby’s belly “gets all swollen sometimes.” The mother says the baby tastes “salty”
when the mother kisses the baby. Further work up reveals a diagnosis of cystic fibrosis. The
mother relates that her 23-month-old son has had multiple episodes of “chest congestion”
and was hospitalized once for pneumonia. The mother wants to know what cystic fibrosis is
and she also wants to know if she should have any more children. Pathophysiology: Cystic
Fibrosis Essay.ORDER A PLAGIARISM-FREE PAPER HEREPost an explanation of the disease
highlighted in the scenario you were provided. Include the following in your explanation: •
The role genetics plays in the disease. • Why the patient is presenting with the specific
symptoms described. • The physiologic response to the stimulus presented in the scenario
and why you think this response occurred. • The cells that are involved in this process. •
How another characteristic (e.g., gender, genetics) would change your response.Cystic
fibrosis is the commonest multisystem disease that shortens life with an autosomal
recessive pattern of inheritance. Primarily, cystic fibrosis involves the pancreas and lungs
but organs of the reproductive system, the liver, upper airways, and intestines may be
involved. (Borowitz, 2015). It occurs when there is inheritance of two mutated copies of the
CFTR gene (Zemanick & Hoffman, 2016). The gene can be heterozygous, homozygous, or
both and lead to bearing a child with cystic fibrosis.Pathophysiology: Cystic Fibrosis
Essay.The CFTR gene is in protein form and acts to maintain a cellular balance of water and
salt. However, a CFTR gene mutation as it occurs in cystic fibrosis causes a dysfunction in
the balance of water and salt (Zemanick & Hoffman, 2016). As a result, a child experiences
dehydration of secretions (thick and sticky mucous) and excess loss of salt in sweat hence
the baby reportedly ‘tastes salty’. In the digestive system, a CFTR gene mutation disrupts
the balance and consistency of mucus causing it to be sticky and thick. The mucus blocks
channels transporting digestive enzymes to facilitate the digestion of food hence the
inability to absorb nutrients properly, particularly fats (Gibson‐Corley et al., 2016). This
explains why the child reportedly ‘did not gain weight’. The thick mucus in the respiratory
tract causes nasal congestion, wheezing, and other symptoms that mimic asthma. Besides,
the trapped germs and thick, sticky mucus serves as a medium for organisms to multiply,
causing repeated lung infections (Stoltz et al., 2015). This explains the mother’s explanation
of ‘multiple episodes of chest congestion and hospitalization for pneumonia’ for her 23-
2. month-old son.Pathophysiology: Cystic Fibrosis Essay.Epithelial cells are involved in the
pathophysiology of cystic fibrosis by producing CFTR, a defective protein found in the cells
lining the GIT tract, lungs, and other systems Although it affects both males and females, its
outcome in females is worse due to the presence of the hormone estrogen that promotes the
presence of Pseudomonas aeruginosa in their lungs. According to Bhagirath et al., (2016),
the presence of the organism increases the difficulty to manage with antibiotics and clears
the body's natural defense causing intense inflammation of the lungs.Pathophysiology:
Cystic Fibrosis Essay.
