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NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations In Cellular Processes

NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations in Cellular Processes

Hello Professor and colleagues,

The role genetics plays in the disease

Genetics plays a significant role in substance abuse and addiction. Research has consistently shown that genetic factors contribute to an individual’s susceptibility to developing substance use disorders. While genetics alone does not determine whether someone will develop an addiction, it can influence their vulnerability and response to substance use. Naloxone is an opioid blocker and since the patient responded to the medication, he was suffering from an opioid overdose. Agrawal et al., (2012) stated that “The gene encoding the mu-opioid receptor (OPRM1) to which opioids bind to produce their analgesic and rewarding effects is the most widely studied candidate gene for heroin and other opioid addictions”. According to Smith (2022), over half of the differences in how likely people are to develop substance use problems stem from DNA differences. Research suggests alcohol addiction is about 50 percent heritable, while addiction to other drugs is as much as 70 percent heritable.

Why is the patient presenting with the specific symptoms described?

The first symptom mentioned is unresponsiveness which is a result of opioid overdose resulting in respiratory depression, decreased cardiac output, and severe pulmonary edema (McCance & Huether, 2018, p.71). It is an opioid overdose because he responded to Naloxone which is an opioid receptor antagonist as it reverses the effect of the opioid by binding to opioid receptors and blocks the effects of other opioids (Naloxone for Opioid Overdose: Life-Saving Science, 2017). The second symptom is burning pain over his left hip and forearm which revealed a large amount of necrotic tissue over the greater trochanter as well as the forearm, which could most likely have resulted from the impact of a fall post-overdose. This led to ischemia and hypoxia causing cellular injury, which affects the plasma membrane of the cells leading to damage to the organelles leading to ATP depletion, and calcium level alteration and ultimately resulting in tissue necrosis, (McCance & Huether, 2018, pp. 49-51). The third symptom is hyperkalemia which resulted in the ECG reading as explained by this statement “Progressive hyperkalemia may result in ECG changes, including peaked T wave, flattened P wave, prolonged PR interval”, (Teymouri et al., 2022).  Hyperkalemia resulted from cellular injury leading to the direct release of intracellular potassium into the extracellular fluid raising the potassium blood levels.

The physiologic response to the stimulus presented in the scenario and why you think this response occurred.

Unresponsiveness from reduced consciousness due to respiratory depression was the physiologic response to the stimulus and the response occurred because “Opioids induce respiratory depression via activation of μ-opioid receptors at specific sites in the central nervous system including the pre-Bötzinger complex, a respiratory rhythm generating area in the pons” (Boom et al., 2012).  Opioid overdose negatively affects the part of your brain that regulates breathing, resulting in ineffective breathing that could ultimately result in death.

The cells that are involved in this process

Opioids work by activating opioid receptors on nerve cells. “The opioid receptors family consists of three classical receptors: μ, δ and κ opioid receptors, all of which belong to the G-protein coupled receptors (GPCR) family with seven transmembrane domains”, (How Opioid Drugs Activate Receptors, 2018)

How another characteristic (e.g., gender, genetics) would change your response?

 Genetic factors can contribute to interindividual differences in opioid response and metabolism. Specific variations in genes encoding drug-metabolizing enzymes, such as cytochrome P450 (CYP450) enzymes, can affect how opioids are processed and eliminated from the body. Genetic variations in opioid receptors can also influence an individual’s sensitivity to opioids and their overall response to pain relief or side effects, (Smith, 2009).

Research suggests that gender can play a role in how individuals respond to opioids. Generally, women may experience greater sensitivity to opioids and may require lower doses for pain management compared to men. This difference may be attributed to variations in hormonal factors, body composition, and metabolism. However, it’s important to note that individual responses can still vary, and these differences are not absolute, (Smith, 2009).

There are two different aspects to this scenario, addiction, and the result of it.  As far as addiction goes, this has been studied heavily and is known to be heavily correlated with genetics.  Studies have found that 50% of a person’s risk of becoming addicted to a substance is within their genetic makeup (NIDA,2019).    Addiction is known to be both an environmental factor and a susceptibility caused by genetics.  Compartment syndrome, which is what I believe is going on in this scenario has little to do with genetics.  However, there is a study regarding Compartment syndrome and the GYG1 gene mutation that may make people more susceptible to this syndrome.  This gene is involved in muscle energy utilization, a mutation on this gene may put a person at a genetic predisposition to suffering from compartment syndrome more easily than others (Joseph et al., 2020).

This patient suffering an overdose developed in my opinion by compartment syndrome.  I have actually had a few patients in my experience of nursing with amputated limbs due to this.  It is not extremely common, but it happens enough that it is actually referred to as “found down” compartment syndrome.  This is due to pressure tissue injuries from patients either collapsing on an arm or leg or in this case a left hip and forearm and then laying there on that limb for extended periods of time.  So, we have an overdose, which then caused compartment syndrome, which led to hyperkalemia, which led to heart rhythm abnormalities.

Compartment Syndrome occurs from an increase in pressure within a closed osteofacial compartment.  This increase in pressure causes circulation to be impaired.  This often occurs in crush injuries, soft tissue injuries, and fractures (Compartment Syndrome, n.d.).  In this case “found down” compartment syndrome can be both from crushing injuries upon collapse or from impaired bloodflow from laying on the extremity for extended amounts of time.  The hyperkalemia occurs due to “Damage to the skeletal cell membrane, both from direct injury or the loss of energy and dysfunction of the cell membrane pumps, causes calcium and sodium to rush inside the cell, and causes substances such as myoglobin, potassium, uric acid and phosphorus to leak out of the cell (Dahlgren, 2015).  This free floating of the potassium causes it to systemically cause hyperkalemia.  The abnormal heart rhythm of prolonged PR interval and peaked T waves is common with extreme hyperkalemia.  Potassium is responsible for helping to control the electrical signals of the myocardium.

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n this scenario, the patient is an obvious drug user and has suffered an overdose as evidenced by being unresponsive and receiving Narcan that revived him. Naloxone is an opioid antagonist. When given, naloxone attaches to the opioid receptors and reverses and blocks the effects of opioids. A number of patients that receive Narcan, arise mad and fighting, because their “high” has been blocked or ruined. The patient also seems to be presenting with rhabdomyolysis. As he was found lying down for an undetermined amount of time, it is not known if he fell or not, and he has necrotic tissue over his hip and forearm with pain. That likely stems from the possible trauma if it was a fall but also the pressure of him lying on the hard ground for an unknown amount of time.

Rhabdomyolysis occurs when the muscle tissue breaks down rapidly, spilling its contents (myoglobin) into circulation. Myoglobin is difficult for the kidneys to excrete sometimes causing kidney failure. Significant decreases in ATP concentration results in cell death, mostly by necrosis. The reduction of ATP levels causes the sodium-potassium pump and sodium-calcium exchange to fail. This results in cellular swelling and diffusion of K+ out of the cell. Due to the cell membrane damage calcium moves rapidly intracellularly (McCance & Huether, 2019). With reperfusion, WBC’s migrate to the damaged muscle and cause further myolysis and necrosis of muscle fibers and release the muscle breakdown contents such as K+ and myoglobin, CK, PO4, and uric acid and leads to complications of hyperkalemia and hyperphosphatemia. In rhabdo hypocalcemia will present followed by hypercalcemia. This happens because Ca moves into the myocyte during the injury, and then leaks out into the ECF after cell lysis (Stanley, et al., 2017). If the patient has kidney damage, the K+ will not be excreted and hyperkalemia will lead to dysrhythmias see on an EKG noted by taller T-waves and prolongs the PR interval and widening of the QRS complex (McCance & Huether, 2019).

Drug addiction was thought to be just people making poor choices. Through research, it has been formulated that drug addiction is physiological and changes the brain structure, the way it looks, and how it processes information. Our brain is known as the “reward pathway or reward center.” When you have a reward behavior, your brain will release dopamine. As all drugs produce a pleasurable amount of dopamine, addictive drugs cause a flood of dopamine that is 10x higher than the natural reward. As drug use increases, the brain cells adapt, thus causing a decrease in the sensitivity to dopamine. A person with a drug addiction has built a tolerance which decreases the dopamine receptors (25, M, 2022). Drug abusers/ addicts are always chasing that first high.

Genetics play a role in substance abuse, use and addiction. Genes have an influence on the number and type of receptors in a person’s brain. Genes also dictate how quickly one’s body will metabolize drugs and how they respond to drugs and other types of medications. A person’s health is determined by genetics and the environment (US Department of Health and Human Services, 2022). Other characteristics such as gender or race would not change my response. Those factors would have the same repercussions regardless of gender or ethnicity.

 

This paper is being written to explain the pathology of cystic fibrosis. I personally have a friend who has this disease and have learned from her. The topics that will be covered are, how cystic fibrosis is created at a cellular level, genetics role in cystic fibrosis, the reasoning for the symptoms that the patient presented with, the description of the cells involved in cystic fibrosis, and how other characteristics would change the child’s response to cystic fibrosis. In short what I remember from nursing school is that cystic fibrosis is a genetic disorder which is an autosomal recessive gene that is carried by both the mother and the father. The abnormality occurs in chromosome 7 which is where creates an inability to transport small molecules across the cell’s membrane, which in turn, dehydrates the cells of the epithelium and this then creates dry secretion. This is a broad overview of what this disease is, but I will go into further detail below.

 The Role Genetics Plays in the Disease

Genetics play an important role in this disease, according to an article published in Pub

NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations in Cellular Processes
NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations in Cellular Processes

Med titled Cystic fibrosis genetics: from molecular understanding to clinical application states that due to a defective epithelial cell that is defective, this cell is inherited and is an autosomal recessive gene. The genetic information that is in the cell, which is the recipe for the cell to make proteins (Cutting, 2015).  According to Pathophysiology of disease: An introduction to clinical medicine, if a person receives a cystic fibrosis transmembrane conductance regulator gene (CFTCR), or a person can receive two copies of the CFTCR gene. This copy has a mutation of the cystic fibrosis gene, furthermore these two copies of the CFTR gene have stored a mutation which is the on chromosome seven. So, when the recipe is being presented to the cell to be made, the genetic information is then stored into the deoxyribonucleic acid which is known as DNA.  This is part of the twenty-three pairs of chromosomes, but on the seventh chromosome, the cystic fibrosis recipe is stored in that chromosome. In the DNA, where the CFTCR gene recipe lives, if there is one copy of the recipe than the gene will not show up in the person but will be a carrier but if there are two copies of the recipe being stored in the chromosome than the cystic fibrosis gene than the person will have cystic fibrosis (McCance at el., 2019).

 Why the Patient is Presenting with the Specific Symptoms Described

The baby’s symptoms included salty skin, a swollen stomach on occasion, and a failure to gain weight normally. According to an article published in the Journal of Cystic Fibrosis titled Inflammation in cystic fibrosis lung disease: Pathogenesis and therapy, epithelia make up the major organ systems. The sweat glands, liver’s bile duct, and intestines in the gastrointestinal tract are all affected in this patient. The article goes on to explain that the patient suffers from malnutrition and does not grow normally as a result of the loss of pancreatic function. As a result, enzyme replacement is critical for this patient in order to prevent cell clogging caused by an inability to breakdown a key nutrient (Cutting, 2015).

NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations In Cellular ProcessesThe physiologic response to the stimulus presented in the scenario and why you think this response occurred

After reading different sources, I was able to breakdown the pathology behind this patient’s symptoms. This disease starts with the CFTR gene protein being mutated in the chromosome seven, which there are two copies of the recipe, this mutation causes the decrease of chloride acceptance and ion being transported, then this makes the absorption of water to increase which throws off ciliary from completing the job and there is mucus that is dry, this is what causes the skin to be salty of the baby. The stomach inflammation and swelling that is being experienced, is due to the CFTR gene protein not having the right recipe present to the epithelial cell, this is causing malfunction by changing the reabsorption of the sodium, chloride and potassium in the cell, the recipe tells the cell to keep the sodium, chloride and potassium outside of the cell, this causes a back-up of outside of the cell structure and blocks the cell from absorbing the nutrients especially, proteins, fats and vitamins that are fat soluble.

The Cells that are Involved in this Process

The cells involved in this process begin with epithelial membranes found in the digestive tract, pancreas, airways, and reproductive area. According to an article in Apoptosis Journal, cystic fibrosis is caused by epithelial cell dysfunction, which leads to inflammation and an inability to create homeostasis due to the CFTR gene’s constant inflammation. Furthermore, the epithelial cells fail and undergo apoptosis as a result of the inflammation that occurs in the endoplasmic reticulum (Soleti at el., 2013).

How another characteristic (e.g., gender, genetics) would change your response

For cystic fibrosis, it is important to understand that this would not be a disease if the parents did not carry the gene. The

NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations in Cellular Processes
NURS 6501 Advanced Pathophysiology Week 1 Discussion Alterations in Cellular Processes

gene is the CFTR gene mutation, mentioned throughout this paper. According to a study done by Harvard Stem Cell Institute, where a lung cell was isolated to examine the function of the CFTR gene. It was shown in the study that if the ionocytes in the cell are not doing their job because it is expressing CFTR gene in increased levels, then the symptoms are created in the cell (Montoro at el., 2018). This occurs in the form of thick mucus and creates the response in the body that does not allow for the patient to regulate sodium, chloride, and potassium in a normal fashion.

Conclusion

During this journey of studying disease in depth and truly understanding how they work will help in the future of my career. I believe that if screening done at the hospitals before they leave would be beneficial. When parents are informed about the possibility of something occurring and what it means, parents will be empowered and get treatment before or if cystic fibrosis symptoms could show up. Also, encouraging parents to come to their baby checkups, will also allow for the medical staff to ask the right questions and treat the baby early, if they see symptoms. Cystic fibrosis is a challenge some patients may struggle with and it is our job as practitioners to catch things before extreme measures need to be taken.

Occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally.

Understanding of signals and symptoms of alterations in cellular processes is a critical step in diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans.

For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts.

To prepare:

By Day 1 of this week, you will be assigned to a specific scenario for this Discussion. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.

By Day 3 of Week 1

Post 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.

Check Out Also: NURS 6501 Week 1 Discussion Alterations in Cellular Processes

Read a selection of your colleagues’ responses.

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By Day 6 of Week 1

Respond to at least two of your colleagues on 2 different days 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

Excellent Good Fair Poor
Develop and submit a personal leadership philosophy that reflects what you think are characteristics of a good leader. Use the scholarly resources on leadership you selected to support your philosophy statement. Your personal leadership philosophy should include the following:

·   A description of your core values.
·   A personal mission/vision statement.

Points Range: 14 (14%) – 15 (15%)

The response accurately and thoroughly describes in detail a set of core values.

The response accurately and completely describes in detail a personal mission/vision statement.

Points Range: 12 (12%) – 13 (13%)

The response describes a set of core values.

The response describes a personal mission/vision statement.

Points Range: 11 (11%) – 11 (11%)

The response describes a set of core values that is vague or inaccurate.

The response describes a personal mission/vision statement that is vague or inaccurate.

Points Range: 0 (0%) – 10 (10%)

The response describes a set of core values that is vague and inaccurate, or is missing.

The response describes a personal mission/vision statement that is vague and inaccurate, or is missing.

·   Analysis of your CliftonStrengths Assessment summarizing the results of your profile.
·   A description of two key behaviors you wish to strengthen.
Points Range: 14 (14%) – 15 (15%)

The response accurately and completely provides an analysis and detailed summary of the CliftonStrengths Assessment.

The response accurately and thoroughly describes in detail two key behaviors to strengthen.

Points Range: 12 (12%) – 13 (13%)

The response accurately provides an analysis and summary of the CliftonStrengths Assessment.

The response describes two key behaviors to strengthen.

Points Range: 11 (11%) – 11 (11%)

The response provides an analysis and summary of the CliftonStrengths Assessment that is vague or inaccurate.

The response describes two key behaviors to strengthen that is vague or inaccurate.

Points Range: 0 (0%) – 10 (10%)

The response provides an analysis and summary of the CliftonStrengths Assessment that is vague and inaccurate, or is missing.

The response describes two key behaviors to strengthen that is vague and inaccurate, or is missing.

·   A development plan that explains how you plan to improve upon the two key behaviors you selected and an explanation of how you plan to achieve your personal vision. Be specific and provide examples.
Points Range: 50 (50%) – 55 (55%)

An accurate, complete, and detailed development plan is provided that thoroughly explains plans to improve upon the two key behaviors selected.

The responses accurately and thoroughly explain in detail plans on how to achieve a personal vision with specific and accurate examples.

The response includes a comprehensive synthesis of information gleaned from sources that fully support how to achieve a personal vision. Integrates 2 or more credible outside sources, in addition to 2 or 3 course-specific resources to fully support the responses provided.

Points Range: 44 (44%) – 49 (49%)

An accurate development plan is provided that explains plans to improve upon the two key behaviors selected.

The responses explain plans on how to achieve a personal vision and may include some specific examples.

The response includes a synthesis of information gleaned from sources that may support how to achieve a personal vision. Integrates 1 credible outside source, in addition to 2 or 3 course-specific resources which may support the responses provided.

Points Range: 39 (39%) – 43 (43%)

A development plan is provided that explains plans to improve upon the two key behaviors selected that is vague or inaccurate.

The responses explain plans on how to achieve a personal vision and may include some examples that are vague or inaccurate.

The response includes information gleaned from 2 or 3 sources that may support how to achieve a personal vision.

Points Range: 0 (0%) – 38 (38%)

A development plan is provided that explains plans to improve upon the two key behaviors selected that is vague and inaccurate, or is missing.

The responses explain plans on how to achieve a personal vision that is vague and inaccurate, does not include any examples, or is missing.

The response does not include any additional information gleaned from outside sources, or is missing.

Written Expression and Formatting – Paragraph Development and Organization:

Paragraphs make clear points that support well-developed ideas, flow logically, and demonstrate continuity of ideas. Sentences are carefully focused—neither long and rambling nor short and lacking substance. A clear and comprehensive purpose statement and introduction is provided which delineates all required criteria.

Points Range: 5 (5%) – 5 (5%)

Paragraphs and sentences follow writing standards for flow, continuity, and clarity.

A clear and comprehensive purpose statement, introduction, and conclusion is provided which delineates all required criteria.

Points Range: 4 (4%) – 4 (4%)

Paragraphs and sentences follow writing standards for flow, continuity, and clarity 80% of the time.

Purpose, introduction, and conclusion of the assignment is stated, yet is brief and not descriptive.

Points Range: 3.5 (3.5%) – 3.5 (3.5%)

Paragraphs and sentences follow writing standards for flow, continuity, and clarity 60%–79% of the time.

Purpose, introduction, and conclusion of the assignment is vague or off topic.

Points Range: 0 (0%) – 3 (3%)

Paragraphs and sentences follow writing standards for flow, continuity, and clarity < 60% of the time.

No purpose statement, introduction, or conclusion was provided.

Written Expression and Formatting – English writing standards:

Correct grammar, mechanics, and proper punctuation

Points Range: 5 (5%) – 5 (5%)
Uses correct grammar, spelling, and punctuation with no errors.
Points Range: 4 (4%) – 4 (4%)
Contains a few (1 or 2) grammar, spelling, and punctuation errors.
Points Range: 3.5 (3.5%) – 3.5 (3.5%)
Contains several (3 or 4) grammar, spelling, and punctuation errors.
Points Range: 0 (0%) – 3 (3%)
Contains many (≥ 5) grammar, spelling, and punctuation errors that interfere with the reader’s understanding.
Written Expression and Formatting – The paper follows correct APA format for title page, headings, font, spacing, margins, indentations, page numbers, parenthetical/in-text citations, and reference list.
Points Range: 5 (5%) – 5 (5%)
Uses correct APA format with no errors.
Points Range: 4 (4%) – 4 (4%)
Contains a few (1 or 2) APA format errors.
Points Range: 3.5 (3.5%) – 3.5 (3.5%)
Contains several (3 or 4) APA format errors.
Points Range: 0 (0%) – 3 (3%)
Contains many (≥ 5) APA format errors.
Total Points: 100