NURS 6501 Discussion: Alterations in Cellular Processes  

NURS 6501 Discussion: Alterations in Cellular Processes  

NURS 6501 Discussion: Alterations in Cellular Processes  

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:

You will be assigned to a specific scenario for this Discussion.

Please post an explanation of the disease highlighted in the scenario provided. Include the following in your explanation: role genetics plays in the disease, why the patient is presenting with the specific symptoms described, physiologic response to the stimulus presented in the scenario and why you think this response occurred, the cells that are involved in this process, and how another characteristic like gender or genetics would change your response.

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Scenario: A 27-year-old patient with a history of substance abuse is found unresponsive by emergency medical services (EMS) after being called by the patient’s roommate. The roommate states that he does not know how long the patient has been lying there.

The patient received naloxone in the field and has become responsive. He complains of burning pain over his left hip and forearm. Evaluation in the ED revealed a large amount of necrotic tissue over the greater trochanter as well as the forearm. EKG demonstrated prolonged PR interval and peaked T waves. Serum potassium level 6.9 mEq/L.

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.

Learning Resources

Required Readings (click to expand/reduce)

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

Chapter 1: Cellular Biology; Summary Review
Chapter 2: Altered Cellular and Tissue Biology: Environmental Agents (pp. 46-61; begin again with Manifestations of Cellular Injury pp. 83-97); Summary Review
Chapter 3: The Cellular Environment: Fluids and Electrolytes, Acids, and Bases
Chapter 4: Genes and Genetic Diseases (stop at Elements of formal genetics); Summary Review
Chapter 5: Genes, Environment-Lifestyle, and Common Diseases (stop at Genetics of common diseases); Summary Review
Chapter 7: Innate Immunity: Inflammation and Wound Healing
Chapter 8: Adaptive Immunity (stop at Generation of clonal diversity); Summary Review
Chapter 9: Alterations in Immunity and Inflammation (stop at Deficiencies in immunity); Summary Review
Chapter 10: Infection (pp. 289-303; stop at Infectious parasites and protozoans); (start at HIV); Summary Review
Chapter 11: Stress and Disease (stop at Stress, illness & coping); Summary Review
Chapter 12: Cancer Biology (stop at Resistance to destruction); Summary Review
Chapter 13: Cancer Epidemiology (stop at Environmental-Lifestyle factors); Summary Review

Justiz-Vaillant, A. A., & Zito, P. M. (2019). Immediate hypersensitivity reactions. In StatPearls. Treasure Island, FL: StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK513315/

Credit Line: Immediate Hypersensitivity Reactions – StatPearls – NCBI Bookshelf. (2019, June 18). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK513315/. Used with permission of Stat Pearls

Example Answer to the Discussion: Alterations in Cellular Processes NURS 6501

This week’s case study is about a client who is 83 years of age and is a skilled nursing amenity resident. The patient presented to the facility with generalized lower limb and abdominal edema. From the interaction with the patient, a past history of malabsorption syndrome and poor feeding from lack of dentures was deduced. Thus, a diagnosis of protein malnutrition was arrived at.

Malnutrition is a serious health crisis with a resultant increased risk of morbidity and mortality. Broadly, malnutrition can either be classified into marasmus, which is an inadequate supply of energy to meet the body’s requirement or kwashiorkor which is the supply of adequate energy with insufficient protein intake (McCance et al., 2019). Classification can also be based on the severity, with malnutrition being classified as mild, moderate, or severe.

Role of Genetics In Protein Malnutrition

Protein malnutrition is etiologically multi-factorial. Its causes include inadequate/improper food intake, impaired absorption, increased gastrointestinal loss of nutrients, increased nutritional needs from various stressors, increased protein loss, and inadequate protein synthesis (Dipasquale et al., 2020). This particular patient’s protein malnutrition is likely due to impaired absorption from the history of the maladaptive syndrome and inadequate food intake based on the difficulty feeding attributed to lack of dentures.

Genetics plays a role in the causation of protein malnutrition. Human genetic variations can alter host genes that impact food absorption and metabolism, including proteins through many mechanisms. Some studies have identified nutrition-associated genes that influence macronutrient intake, such as FTO and single-nucleotide polymorphisms genes, which cause reduced protein intake (Duggal et al., 2018). The genetic variation of individuals also determines the gut microbe composition, which may, in turn, contribute to malnutrition.

Reason For Patient’s Presenting Symptoms

The patient came to the emergency department presenting with generalized lower limb edema and abdominal edema. Protein malnutrition is typically characterized by low serum albumin levels due to the decreased synthesis and storage of serum proteins. Low albumin levels lead to an imbalance between oncotic pressure and hydrostatic pressure across vascular walls. Albumin contributes to oncotic pressure, which maintains the intravascular fluid within the blood vessels. Its deficiency thus leads to loss of fluid to the extra-vascular spaces and tissues, which presents clinically as edema.

Physiologic Response To The Stimulus

Reduced oncotic pressure due to low serum albumin level leads to edema from extra-vascular movement of intravascular fluid. This results in intravascular volume depletion, leading to hypovolemia and even shock in serious cases. The body responds to this by increasing the antidiuretic hormone levels to replace the depleted intravascular fluid.  This is achieved by water retention by the renal system through the action of this hormone.

Cells Involved In The Process

Antidiuretic hormone is secreted by the posterior pituitary gland. This hormone acts in the distal renal and collecting tubules and leads to water reabsorption by causing the expression of water transport channels. This leads to intravascular fluid repletion. In addition to decreasing the urine output, this hormone also acts on the endothelial cells of blood vessels to cause vasoconstriction in cases of hypotension.

Influence of Other Characteristics

In addition to genetics, several other factors contribute to the development of malnutrition. Aging, for example, has been shown to increase the risk of malnutrition, as is the case with the patient in this study. This is attributed to factors such as lack of dentures, loss of taste, and reduced movement (Besora-Moreno et al., 2020). This leads to reduced food intake with resultant malnutrition. This may necessitate measures such as nutritional support and screening of the elderly population for early diagnosis and interventions.

References

Besora-Moreno, M., Llauradó, E., Tarro, L., & Solà, R. (2020). Social and Economic Factors and Malnutrition or the Risk of Malnutrition in the Elderly: A Systematic Review and Meta-Analysis of Observational Studies. Nutrients, 12(3), 737. https://doi.org/10.3390/nu12030737

Dipasquale, V., Cucinotta, U., & Romano, C. (2020). Acute Malnutrition in Children: Pathophysiology, Clinical Effects, and Treatment. Nutrients, 12(8), 2413. https://doi.org/10.3390/nu12082413

Duggal, P., & Petri, W. (2018). Does Malnutrition Have a Genetic Component?. Annual Review Of Genomics And Human Genetics, 19(1), 247-262. https://doi.org/10.1146/annurev-genom-083117-021340

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

Example Student Discussion: Alterations in Cellular Processes NURS 6501.

The 83-year-old patient presented in this scenario is suffering from malabsorption syndrome. The condition that the patient is experiencing, and the lack of food intake contributes to protein malnutrition. The main problem of malabsorption syndrome is the lack of nutritional supply in a body due to decreased absorption within the small intestines (McCance & Huether, 2019). The purpose of this discussion is to discuss the genetics, physiological, and cellular components of the scenario presented.

Malabsorption syndrome can have many different causes. Some such causes can stem from outside influences such as intestine dissection, infections, and damage from radiation treatments. However, malabsorption can also come from genetic diseases such as Cystic fibrosis, congenital short bowel syndrome, Celiac disease, and Chron’s disease (Clark & Johnson, 2018).

The scenario presented only states that the patient has a medical history of malabsorption syndrome but does not specify what the cause was. If the patient’s malabsorption was caused by Celiac disease, the genetic factors that would be important to focus on would be the class II human leukocyte antigen (HLA) genes, DQ2 and DQ8.

Patients with these genes are susceptible to celiac disease, where gluten proteins cause CD4T cells to be activated in the mucosal lining of the small intestines. Such activation damages the mucosal lining over time, thereby interfering with the absorption of necessary nutrients (Clark & Johnson, 2018).

The stimulus presented in this scenario is a state of hypoalbuminemia. This condition developed because of the patient’s history of malabsorption syndrome and low protein intake (McCance & Huether, 2019). To understand the physiological response, it is essential to understand the function of protein within the bloodstream. Albumin is the form of protein within the blood responsible for maintaining oncotic pressure.

The albumin does this by using its force to retain water via sodium within the capillaries. Therefore, if there is a lack of albumin in the bloodstream, a weak force keeps the fluid from escaping. This affects the oncotic pressure and allows fluid to leak into the interstitial space. Over time, an accumulation of fluid in the interstitial space leads to swelling, which is the culprit for the patient’s generalized edema and ascites (Darwish & Lui, 2021).

The way nutrients are absorbed into our bodies is through the digestive process. The digestive process begins from the minute food enters our mouths. However, most absorption takes place in the intestinal lumen of the small intestines. The small intestines are made of four main layers: the mucosa, submucosa, muscularis externa, and adventitia.

The mucosal layer contains the epithelium, where the digestive cells live. The digestive cells include the enterocytes, Paneth cells, goblet cells, and neuroendocrine cells. Enterocytes make up the majority of the intestinal epithelium and are responsible for the primary role of absorption (Kong et al., 2018)

Specifically, protein is absorbed in the body with the help of trypsin and chymotrypsin. These enzymes break proteins into tiny forms of amino acids. These amino acids are then transported via the enterocytes across the epithelium to enter blood circulation (Kong et al., 2018). The major clinical problem taking a toll on this patient’s health is malabsorption syndrome. In this case, there is an interruption of the absorptive process at the small intestines, through chemical interruption or a defected brush border, preventing protein absorption for the patient (McCance & Heuther, 2019). A lack of circulating protein is causing the patient’s symptoms, as stated previously.

Malabsorption syndrome can have many different causes, both extrinsic and intrinsic. Older adults are more likely to experience malabsorption due to prolonged illnesses or exposures to medication and chemicals (Clark & Johnson, 2018). Young children, however, are less likely to experience this condition. Therefore, it is easier to pinpoint the cause of the problem in children. If a very young child would present with similar symptoms, I would sooner lookout for diseases such as Cystic fibrosis and milk protein intolerances and their genetic indicators (Cleveland Clinic, 2022).

Discussion: Alterations in Cellular Processes NURS 6501 Solution 3.

Group A, scenario 1, presents the case of a 16-year-old boy who is diagnosed with strep throat. Upon discharge, he is prescribed amoxicillin to treat the infection which quickly induces an anaphylactic response after he takes his first dose. As is typical of a type 1 hypersensitivity reaction, he quickly develops facial edema, dyspnea, and audible wheezes. This scenario illustrates two common pathologies that affect adults and children, namely, strep throat (Group A Streptococcus) and anaphylaxis (Type I hypersensitivity).

Group A strep is a bacteria that affects the nose and throat of young children and can be spread to adults through respiratory droplets (Centers for Disease Control and Prevention, 2022). Anaphylaxis is an exaggerated immune response to an allergen. Many biological components are involved in what is commonly known as an allergic reaction. Anaphylaxis is the most severe and life-threatening form of an allergy.

At the cellular level, a foreign substance called an antigen – in this case, penicillin – enters the body and is immediately identified as a threat by the immune system which mounts an acute inflammatory response. Type I hypersensitivities are mediated by immunoglobulin E (IgE) antibodies and the products of mast cells (i.e., histamines and leukotrienes; Justiz-Vaillant & Zito, 2019).

According to McCance and Huether (2018), the most potent mediator of this process is histamine, which acts through H1 receptors located in the smooth muscle cells of several tissues including the airway, heart/blood vessels, and brain. The symptoms experienced by the patient in the scenario can be explained by the effects of this mediator.

Histamine causes smooth muscle contraction leading to bronchial airway constriction and, therefore, dyspnea and wheezing; increased capillary permeability, which causes edema; and vasodilation, which increases blood flow to the affected areas (erythema).

Various factors play a role in the susceptibility of individuals to atopic conditions including environment, genetics, age, and gender. Allergies have a strong genetic component according to Aldakheel (2021). 70% of identical twins and 40% of non-identical twins have reported similar allergies. Furthermore, individuals with hereditary α-tryptasemia have been identified for increased risk for severe anaphylaxis (Lyons et al., 2021).

Allergies tend to occur more frequently in children than adults as IgE levels peak in infancy and decrease with age up until about 30 years where they level off. Young boys tend to experience allergies more often than young girls due to higher sensitization rates for grass pollen, dust mites, and cat epithelium. The author also states that many of these sex and age differences tend to diminish over time.

NURS 6501 Module 2 Case Study Assignment

Please be mindful of plagiarism and APA format, I have included the rubric. Please use my course resources as one of my references as instructed. Please include McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier in the references.

Case Study Analysis

An understanding of the cardiovascular and respiratory systems is a critically important component of disease diagnosis and treatment. This importance is magnified by the fact that these two systems work so closely together. A variety of factors and circumstances that impact the emergence and severity of issues in one system can have a role in the performance of the other.

Effective disease analysis often requires an understanding that goes beyond these systems and their capacity to work together. The impact of patient characteristics, as well as racial and ethnic variables, can also have an important impact.

Photo Credit: yodiyim / Adobe Stock

An understanding of the symptoms of alterations in cardiovascular and respiratory systems is a critical step in diagnosis and treatment of many diseases. For APRNs this understanding can also help educate patients and guide them through their treatment plans.

In this Assignment, you examine a case study and analyze the symptoms presented. You identify the elements that may be factors in the diagnosis, and you explain the implications to patient health.

Scenario 4: 45-year-old woman presents with chief complaint of 3-day duration of shortness of breath, cough with thick green sputum production, and fevers. Patient has history of COPD with chronic cough but states the cough has gotten much worse and is interfering with her sleep. Sputum is thicker and harder for her to expectorate. CXR reveals flattened diaphragm and increased AP diameter. Auscultation demonstrates hyper resonance and coarse rales and rhonchi throughout all lung fields.

To prepare:

Assignment (1- to 2-page case study analysis)
In your Case Study Analysis related to the scenario provided, explain the following

  1. The cardiovascular and cardiopulmonary pathophysiologic processes that result in the patient presenting these symptoms.
  2. Any racial/ethnic variables that may impact physiological functioning.
  3. How these processes interact to affect the patient.

NOTE: PLEASE INCLUDE AN INTRODUCTION WITH A PURPOSE STATEMENT, TITLE PAGE, REFERENCE PAGE, AND A SUMMARY.

Concepts of Endocrine Disorders Knowledge Check

QUESTION 1

  1. Scenario 1: Syndrome of Antidiuretic Hormone (SIADH)

A 77-year-old female was brought to the clinic by her daughter who stated that her mother had become slightly confused over the past several days. She had been stumbling at home and had fallen twice but was able to walk with some difficulty. She had no other obvious problems and had been eating and drinking. The daughter became concerned when she forgot her daughter’s name, so she thought she better bring her to the clinic.

HPI: Type II diabetes mellitus (DM) with peripheral neuropathy x 30 years. Emphysema. Situational depression after death of spouse 6-months ago

SHFH: – non contributary except for 40 pack/year history tobacco use.

Meds: Metformin 1000 mg po BID, ASA 81 mg po qam, escitalopram (Lexapro) 5 mg po q am started 2 months ago

Labs-CBC WNL; Chem 7- Glucose-102 mg/dl, BUN 16 mg/dl, Creatinine 1.1 mg/dl, Na+116 mmol/L,

K+4.2 mmol/L, CO237 m mol/L, Cl97 mmol/L.

The APRN refers the patient to the ED and called endocrinology for a consult for diagnosis and management of syndrome of inappropriate antidiuretic hormone (SIADH).

Question:

1.     Define SIADH and identify any patient characteristics that may have contributed to the development of SIADH 

Scenario 2: Type 1 Diabetes

A 14-year-old girl is brought to the pediatrician’s office by his parents who are concerned about their daughter’s weight loss despite eating more, frequent urination, unquenchable thirst, and fatigue that is interfering with her school activities. She had been seemingly healthy until about 4 months ago when her parents started noticing these symptoms. She admits to sleeping more and gets tired very easily.

PMH: noncontributory.

Allergies-NKDA

FH:- maternal uncle with “some kind of sugar diabetes problem” but parents unclear on the exact disease process

SH: denies alcohol, tobacco or illicit drug use. Not sexually active.

Labs: random glucose 244 mg/dl.

DIAGNOSIS: Diabetes Mellitus type 1 and refers to an endocrinologist for further work up and management plan.

Question

1.     Explain the pathophysiology of the three P’s for (polyuria, polydipsia, polyphagia)” with the given diagnosis of Type I DM.

QUESTION 3

  1. Scenario 2: Type 1 Diabetes

A 14-year-old girl is brought to the pediatrician’s office by his parents who are concerned about their daughter’s weight loss despite eating more, frequent urination, unquenchable thirst, and fatigue that is interfering with her school activities. She had been seemingly healthy until about 4 months ago when her parents started noticing these symptoms. She admits to sleeping more and gets tired very easily.

PMH: noncontributory.

Allergies-NKDA

FH:- maternal uncle with “some kind of sugar diabetes problem” but parents unclear on the exact disease process

SH: denies alcohol, tobacco or illicit drug use. Not sexually active.

Labs: random glucose 244 mg/dl.

DIAGNOSIS: Diabetes Mellitus type 1 and refers to an endocrinologist for further work up and management plan.

Question

1.    Explain the genetics relationship and how this and the environment can contribute to Type I DM.

QUESTION 4

  1. Scenario 3: Type II DM

A 55-year-old male presents with complaints of polyuria, polydipsia, polyphagia, and weight loss. He also noted that his feet on the bottom are feeling “strange” “like ants crawling on them” and noted his vision is blurry sometimes. He has increased an increased appetite, but still losing weight. He also complains of “swelling” and enlargement of his abdomen.

PMH: HTN – well controlled with medications. He has mixed hyperlipidemia, and central abdominal obesity. Physical exam unremarkable except for decreased filament test both feet. Random glucose in office 333 mg/dl.

Diagnosis: Type II DM and prescribes oral medication to control the glucose level and also referred the patient to a dietician for dietary teaching.

Question:

1.     How would you describe the pathophysiology of Type II DM?  

QUESTION 5

  1. Scenario 4: Hypothyroidism

A patient  walked into your  clinic today with the following complaints: Weight gain (15 pounds), however has a decreased appetite with extreme fatigue,  cold intolerance, dry skin, hair loss, and falls asleep watching television. The patient also tearfulness with depression, and with an unknown cause and has noted she is more forgetful.  She does have blurry vision.

PMH: Non-contributory.

Vitals: Temp 96.4˚F, pulse 58 and regular, BP 106/92,  12 respirations. Dull facial expression with coarse facial features. Periorbital puffiness noted.

Diagnosis: hypothyroidism.

Question:

What causes hypothyroidism?

Example Solution to the Assignment: Concepts of Endocrine Disorders 

Question 1: Syndrome of Antidiuretic Hormone (SIADH)

Normally, the secretion of antidiuretic hormone (ADH) is influenced by plasma osmolality. However, SIADH results when the ADH secretion is excessive regardless of the plasma osmolality, thus leading to increased water retention by kidneys and the resultant electrolyte imbalances worse, which is dilutional hyponatremia (Mentrasti et al., 2020). The patient presentation relates to such hyponatremia.

Different factors predispose an individual to SIADH development, including advanced age, drug use, brain disorders, and malignancies. The patient in the case study had some of these factors that might have predisposed her to develop the condition. She is older than 50 years, has type 2 diabetes mellitus, has a long-standing history of cigarette smoking, and is on different medications for managing depression, including antidepressants.

Patients with advanced age may develop ineffective secretion of ADH due to medications such as antidepressants and NSAIDs that interfere with renal function (Al-Hinai et al., 2021). Further, a history of smoking is suggestive of undiagnosed lung malignancy and emphysema that has been associated with SIADH. In addition, the patient had a history of falls from which she may have sustained intracranial bleeding, thus resulting in SIADH (Mentrasti et al., 2020). These factors should be investigated and appropriately addressed.

Question 2: Pathophysiology of three P`s in type I diabetes Mellitus

Patients with type 1 diabetes mellitus (DM) have autoimmune destruction of the pancreas’s β-islet cells, leading to absolute insulin deficiency in the body (Nigro et al., 2018). They, therefore, have disorders in the metabolism of glucose, resulting in high serum levels of glucose. As a result of this hyperglycemia, the renal threshold for glucose is overcome, and glucose is passed into the urine (Nigro et al., 2018).

Glycosuria increases the osmotic potential of the urine, thus leading to increased water loss resulting in polyuria. Consequently, the individual becomes dehydrated and the thirst center is stimulated to increase the water intake to offset the dehydration (Banday et al., 2020). This increase in water intake is polydipsia. Further, glucosuria also reduces the body’s carbohydrates, and the individual increases food intake to replenish the lost sugars (Nigro et al., 2018). Polyphagia refers to this increased food intake in DM.

Question 3: How Genetics and Environmental Factors Contribute to Type 1 DM

Type 1 DM results from autoimmune destruction of pancreatic cells. It is estimated that 50% of the affected individuals have a hereditary genetic predisposition, as witnessed by the fragility at chromosome 6p21 and the insulin gene found in chromosome 11p15 (Blanter et al., 2019). In addition to this predisposition, the affected individuals may be triggered by environmental factors such as obesity and viral infection, leading to the development of diabetes mellitus, especially in the younger population (Nigro et al., 2018).

Question 4: Pathology of Type 2 DM

Type 2 DM, in contrast to type 1 DM, results from absolute insulin deficiency, results from relative insulin deficiency due to reduced secretion of insulin by the pancreas, increased insulin resistance by the peripheral tissues, or both (Galicia-Garcia et al., 2020). It can also be due to increased levels of insulin counterregulatory hormones. This relative insulin deficiency leads to reduced utilization of glucose in the affected individual, and the lipids are metabolized instead (Banday et al., 2020). This is the hallmark of hyperglycemia and other patient presentation encountered in type 2 DM.

Question 5: Causes of Hypothyroidism

Hypothyroidism is the low secretion of thyroid hormones by the thyroid gland. Such low secretion can be due to disorders of the thyroid gland, pituitary gland, or hypothalamus. The disorders of the thyroid gland include the use of amiodarone, iodine deficiency, thyroidectomy, thyroid radiation, and Hashimoto’s thyroiditis (Chiovato et al., 2019). These conditions contribute to the majority of hypothyroidism cases, although hypopituitarism and deficiency of hypothalamus hormones (McDermott, 2020).

References

Al-Hinai, A., Al-Murshedi, F., Al-Nabhani, D., & Al-Thihli, K. (2021). Syndrome of inappropriate antidiuretic hormone secretion in a patient with uncontrolled tyrosinemia type 1. Sultan Qaboos University Medical Journal21(2), e312–e315. https://doi.org/10.18295/squmj.2021.21.02.023

Banday, M. Z., Sameer, A. S., & Nissar, S. (2020). Pathophysiology of diabetes: An overview. Avicenna Journal of Medicine10(4), 174–188. https://doi.org/10.4103/ajm.ajm_53_20

Blanter, M., Sork, H., Tuomela, S., & Flodström-Tullberg, M. (2019). Genetic and environmental interaction in type 1 diabetes: A relationship between genetic risk alleles and molecular traits of Enterovirus infection? Current Diabetes Reports19(9), 82. https://doi.org/10.1007/s11892-019-1192-8

Chiovato, L., Magri, F., & Carlé, A. (2019). Hypothyroidism in context: Where we’ve been and where we’re going. Advances in Therapy36(Suppl 2), 47–58. https://doi.org/10.1007/s12325-019-01080-8

Galicia-Garcia, U., Benito-Vicente, A., Jebari, S., Larrea-Sebal, A., Siddiqi, H., Uribe, K. B., Ostolaza, H., & Martín, C. (2020). Pathophysiology of type 2 Diabetes Mellitus. International Journal of Molecular Sciences21(17), 6275. https://doi.org/10.3390/ijms21176275

McDermott, M. T. (2020). Hypothyroidism. Annals of Internal Medicine173(1), ITC1–ITC16. https://doi.org/10.7326/aitc202007070

Mentrasti, G., Scortichini, L., Torniai, M., Giampieri, R., Morgese, F., Rinaldi, S., & Berardi, R. (2020). Syndrome of inappropriate antidiuretic hormone secretion (SIADH): Optimal management. Therapeutics and Clinical Risk Management16, 663–672. https://doi.org/10.2147/TCRM.S206066

Nigro, N., Grossmann, M., Chiang, C., & Inder, W. J. (2018). Polyuria-polydipsia syndrome: a diagnostic challenge. Internal Medicine Journal48(3), 244–253. https://doi.org/10.1111/imj.13627

Knowledge Check: Neurological and Musculoskeletal Disorders Knowledge Check

QUESTION 1

  1. Scenario 1: Gout

A 68-year-old obese male presents to the clinic with a 3-day history of fever with chills, and Lt. great toe pain that has gotten progressively worse. Patient states this is the first time that this has happened, and nothing has made it better and walking on his right foot makes it worse. He has tried acetaminophen, but it did not help. He took several ibuprofen tablets last night which did give him a bit of relief.

HPI: hypertension treated with Lisinopril/HCTZ .

SH: Denies smoking. Drinking: “a fair amount of red wine” every week. General appearance: Ill appearing male who sits with his right foot elevated.

PE:  remarkable for a temp of 100.2, pulse 106, respirations 20 and BP 158/92. Right great toe (first metatarsal phalangeal [MTP]) noticeably swollen and red. Unable to palpate to assess range of motion due to extreme pain. CBC and Complete metabolic profile revealed WBC 15,000 mm3 and uric acid 9.0 mg/dl.

Diagnoses the patient with acute gout.

Question:

Explain the pathophysiology of gout.

QUESTION 2

  1. Scenario 1: Gout

A 68-year-old obese male presents to the clinic with a 3-day history of fever with chills, and Lt. great toe pain that has gotten progressively worse. Patient states this is the first time that this has happened, and nothing has made it better and walking on his right foot makes it worse. He has tried acetaminophen, but it did not help. He took several ibuprofen tablets last night which did give him a bit of relief.

HPI: hypertension treated with Lisinopril/HCTZ .

SH: Denies smoking. Drinking: “a fair amount of red wine” every week. General appearance: Ill appearing male who sits with his right foot elevated.

PE:  remarkable for a temp of 100.2, pulse 106, respirations 20 and BP 158/92. Right great toe (first metatarsal phalangeal [MTP]) noticeably swollen and red. Unable to palpate to assess range of motion due to extreme pain. CBC and Complete metabolic profile revealed WBC 15,000 mm3 and uric acid 9.0 mg/dl.

Diagnoses the patient with acute gout.

Question:

Explain why a patient with gout is more likely to develop renal calculi.

QUESTION 3

  1. Scenario 2: Osteoporosis

A 78-year-old female was out walking her small dog when her dog suddenly tried to chase a  rabbit and made her fall. She attempted to try and break her fall by putting her hand out and she landed on her outstretched hand. She immediately felt severe pain in her right wrist and noticed her wrist looked deformed. Her neighbor saw the fall and brought the woman to the local ER for evaluation.

Radiographs revealed a Colles’ fracture (distal radius with dorsal displacement of fragments) as well as radiographic evidence of osteoporosis. A closed reduction of the fracture was successful, and she was placed in a posterior splint with ace bandage wrap and instructed to see an orthopedist for follow up.

Question:

Discuss what is osteoporosis and how does it develop pathologically? 

QUESTION 4

  1. Scenario 3: Rheumatoid Arthritis

A 48-year-old woman presents with a five-month history of generalized joint pain, stiffness, and swelling, especially in her hands. She states that these symptoms have made it difficult to grasp objects and has made caring for her grandchildren problematic. She admits to increased fatigue, but she thought it was due to her stressful job.

FH: Grandmothers had “crippling” arthritis.

PE: remarkable for bilateral ulnar deviation of her hands as well as soft, boggy proximal interphalangeal joints. The metatarsals of both of her feet also exhibited swelling and warmth.

Diagnosis: rheumatoid arthritis.

Question:

The pt. had various symptoms, explain how these factors are associated with RA and what is the difference between RA and OA? 

QUESTION 5

  1. Scenario5: Multiple Sclerosis (MS)

A 28-year-old obese, female presents today with complaints for several weeks of vision problems (blurry) and difficulty with concentration and focusing. She is an administrative para-legal for a law firm and notes her symptoms have become worse over the course of the addition of more attorneys and demands for work. 

Today, she noticed that her symptoms were worse and were accompanied by some fine tremors in her hands. She has been having difficulty concentrating and has difficulty voiding. She went to the optometrist who recommended reading glasses with small prism to correct double vision. She admits to some weakness as well. No other complaints of fevers, chills, URI or UTI

PMH: non-contributory

PE: CN-IV palsy. The fundoscopic exam reveals edema of right optic nerve causing optic neuritis. Positive nystagmus on positional maneuvers. There are left visual field deficits. There was short term memory loss with listing of familiar objects.

DIAGNOSIS: multiple sclerosis (MS).

Question:

Describe what is MS and how did it cause the above patient’s symptoms?

NURS 6501 Module 5 Case Study Assignment

Please be mindful of plagiarism and APA format, I have included the rubric. Please use my course resources as one of my references as instructed. Please include McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier in the references.

Learning Resources

Note: The below resources were first presented in Week 7. If you have previously reviewed them, you are encouraged to read or view them again here.

Required Readings (click to expand/reduce)

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

Chapter 15: Structure and Function of the Cardiovascular and Lymphatic Systems (stop at Aging and the nervous system)
Chapter 16: Pain, Temperature Regulation, Sleep, and Sensory Function (stop at Sleep); Summary Review
o Chapter 17: Alterations in Cognitive Systems, Cerebral Hemodynamics, and Motor Function; pp. 504–511, pp. 516–530 (start at Acute confusional states and delirium) (stop at Alterations in neuromotor functions); (Parkinson’s Disease); Summary Review
Chapter 18: Disorders of the Central and Peripheral Nervous Systems and the Neuromuscular Junction (stop at Degenerative disorders of the spine); (start at Cerebrovascular disorders) (stop at Tumors of the central nervous system); Summary Review
Chapter 44: Structure and Function of the Musculoskeletal System (stop at Components of muscle function); Summary Review
Chapter 45: Alterations of Musculoskeletal Function (stop at Bone tumors); (start at Disorders of joints); Summary Review
Chin, L. S. (2018). Spinal cord injuries. Retrieved from https://emedicine.medscape.com/article/793582-overview#a4

Required Media (click to expand/reduce)

Khan Academy. (2019b). Ischemic stroke. Retrieved from https://www.khanacademy.org/science/health-and-medicine/circulatory-system-diseases/stroke/v/ischemic-stroke

Note: The approximate length of the media program is 8 minutes.

Osmosis.org. (2019, June 12). Osteoporosis – causes, symptoms, diagnosis, treatment, pathology [Video file]. Retrieved from https://www.youtube.com/watch?v=jUQ_tt_zJDo

Note: The approximate length of the media program is 9 minutes.

Online Media from Pathophysiology: The Biologic Basis for Disease in Adults and Children
In addition to this week\’s media, it is highly recommended that you access and view the resources included with the course text, Pathophysiology: The Biologic Basis for Disease in Adults and Children.

Focus on the videos and animations in Chapters 15, 16, 18, and the sections of Chapters 44 and 45 that relate to the neurological and musculoskeletal systems. Refer to the Learning Resources in Week 1 for registration instructions. If you have already registered, you may access the resources at https://evolve.elsevier.com/

Module 5 Assignment: Case Study Analysis

An understanding of the neurological and musculoskeletal systems is a critically important component of disease and disorder diagnosis and treatment. This importance is magnified by the impact that these two systems can have on each other. A variety of factors and circumstances affecting the emergence and severity of issues in one system can also have a role in the performance of the other.

Effective analysis often requires an understanding that goes beyond these systems and their mutual impact. For example, patient characteristics such as, racial and ethnic variables can play a role.

Photo Credit: jijomathai – stock.adobe.com

An understanding of the symptoms of alterations in neurological and musculoskeletal systems is a critical step in diagnosis and treatment. For APRNs this understanding can also help educate patients and guide them through their treatment plans.

In this Assignment, you examine a case study and analyze the symptoms presented. You identify the elements that may be factors in the diagnosis, and you explain the implications to patient health.

To prepare:

By Day 1 of this week, you will be assigned to a specific case study scenario for this Case Study Assignment. Please see the Course Announcements’ section of the classroom for your assignment from your Instructor.

Assignment (1- to 2-page case study analysis)
In your Case Study Analysis related to the scenario provided, explain the following:

  1. Both the neurological and musculoskeletal pathophysiologic processes that would account for the patient presenting these symptoms.
  2. Any racial/ethnic variables that may impact physiological functioning.
  3. How these processes interact to affect the patient.

CASE:
Scenario 4: A 67-year-old man presents to the HCP with chief complaint of tremors in his arms. He also has noticed some tremors in his leg as well. The patient is accompanied by his son, who says that his father has become “stiff” and it takes him much longer to perform simple tasks. The son also relates that his father needs help rising from his chair. Physical exam demonstrates tremors in the hands at rest and fingers exhibit “pill rolling” movement.

The patient’s face is not mobile and exhibits a mask-like appearance. His gait is uneven, and he shuffles when he walks and his head/neck, hips, and knees are flexed forward. He exhibits jerky or cogwheeling movement. The patient states that he has episodes of extreme sweating and flushing not associated with activity. Laboratory data unremarkable and the HCP has diagnosed the patient with Parkinson’s Disease.

NOTE:
PLEASE INCLUDE AN INTRODUCTION WITH PURPOSE STATEMENT, A TITLE PAGE, AND A SUMMARY.

Example Solution to Module 5 Assignment: Case Study Analysis

This week’s case study is about a 67-year-old man who was diagnosed with Parkinson’s disease. The patient presented with tremors, stiffness, masklike immobile face, uneven gait, jerky cogwheeling movements, and episodes of nonactivity-related extreme sweating. The purpose of this case study is to describe the pathophysiology, the ethnic variables that impact the physiological functioning of PD patients, and their effects on the patients.

Pathophysiology

The predisposing factors of PD include age, environmental conditions like smoking, MPTP exposure, pesticide and herbicide exposure, and being male. There are two main pathophysiologic processes in the neurological and musculoskeletal presentation of PD.

These include the loss of the pigmented cells from the substantia nigra pars compacta that produce dopamine and the presence of eosinophilic inclusions in the cytoplasm of neurons, Lewy bodies and Lewy neurites (Mccance & Huether, 2019). There has to be a substantial loss (60%-80%) of the pigmented cells from the substantia nigra pars compacta for symptoms of gross neurologic dysfunctions to occur.

In early disease, there is decreased affinity to the dopaminergic receptors leading to an increase in the number of receptors for compensation. Further disruption in the regulatory mechanisms in the musculoskeletal and nervous systems leads to the increased synthesis of dopamine from the remaining cells.

The endogenous toxin hypothesis proposes a direct injury to the neural cells by the reactive oxygen species and highly reactive radicals formed in the degradation of dopamine. (Mccance & Huether, 2019). Other mechanisms include programmed cell death of the dopaminergic neurons. Protein aggregation occurs as the α-Synuclein bind the Aβ-38 to form amyloid that resembles Lewy bodies.

Lewy bodies express ubiquitin and proteosomes, which are proteins implicated in the cellular degradation of protein aggregates. Neuron loss is not confined to the dopaminergic neurons but extends to the sympathoadrenal, serotonergic, cholinergic, and catecholaminergic cells (Walsh, 2019). This wide range of loss of cells brings out the multisystemic nature of PD.

In normal movement, the basal ganglia modulate the output from the cerebral cortex. Dopamine from the SNpc activates the direct pathway and inhibits the indirect pathway in the basal ganglia. Decreased dopamine levels in the nigrostriatal pathway inhibit the direct and indirect pathways in the basal ganglia. Increased inhibition suppresses movement.

Degeneration of the substantia nigra due to damage to the dopaminergic neurons confers an alteration in the neuronal output from the globus pallidus (Zafar & Yaddanapudi., 2022). As a result, there are functional changes in the motor pathways that link the motor cortex to the basal ganglia (Kouli et al., 2018).

This causes difficulty in performing sequential movements hence the stiffness, shuffling, and reduced facial expressions. Autonomic dysfunctions like constipation, sexual dysfunction, urinary incontinence, increased sweating, reduced sweating, and abnormal temperature control result from abnormal signaling of the autonomic nervous system.

Racial and ethnic variables

PD is more prevalent among whites, 54 per 100,000 among whites, 23 per 100,000 among African Americans, and 40 per 100,000 among Latinos (Kouli et al., 2018). There are also disparities in treatment and care where more whites received PD treatment compared to African Americans (Stoker & Greenland, 2018). African Americans have a higher disability and disease severity compared to Caucasians.

How These Processes Interact to Affect the Patient

The discussion brings out a broader perspective of PD, a multisystemic disorder that culminates in increased morbidity and mortality (Simon & Brundin, 2020). A disturbance in the autonomic relation causes increased sweating leading to dehydration, constipation, poor regulation of temperature, and urinary incontinence.

Neuropsychiatric manifestations of PD range from dementia to anxiety, hallucinations, and depression. The musculoskeletal aspects interfere with the patient’s movement and ability to perform tasks and fend for themselves. All these factors decrease patients’ self-esteem, reduce health seeking, and are causes of morbidity and mortality among these patients.

Conclusion

Parkinson’s Disease is a chronic progressive neurodegenerative disorder. The prevalence of PD increases with age and has a male predominance. PD is a multisystemic disease. The diagnosis mainly depends on the history and physical examination. The diagnosis requires the presence of two out of resting tremors, bradykinesia and rigidity.

References

Kouli, A., John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, UK, Torsney, K. M., Kuan, W.-L., Department of Medicine for the Elderly, Cambridge University Hospitals NHS Foundation Trust, UK, Clinical Gerontology Unit, Department of Public Health and Primary Care, University of Cambridge, UK, & John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, UK. (2018). Parkinson’s Disease: Etiology, Neuropathology, and Pathogenesis. In Parkinson’s Disease: Pathogenesis and Clinical Aspects (pp. 3–26). Codon Publications. https://doi.org/10.15586/codonpublications.parkinsonsdisease.2018.ch1

McCance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (9th ed.). Mosby.

Simon, D. K., Tanner, C. M., & Brundin, P. (2020). Parkinson’s disease epidemiology, pathology, genetics, and pathophysiology. Clinics in Geriatric Medicine36(1), 1–12. https://doi.org/10.1016/j.cger.2019.08.002

Stoker, T. B., & Greenland, J. C. (2018). Parkinson’s Disease: Pathogenesis and Clinical Aspects (T. B. Stoker, John Van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, UK, J. C. Greenland, & John Van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, UK, Eds.). Codon Publications. https://doi.org/10.15586/codonpublications.parkinsonsdisease.2018

Walsh, A. (Ed.). (2019). Parkinson’s disease: Symptoms, pathophysiology, and treatment. Foster Academics.

Zafar, S., & Yaddanapudi., S. S. (2022). Parkinson Disease. In StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; https://www.ncbi.nlm.nih.gov/books/NBK470193/

Concepts of Psychological Disorders Knowledge Check

QUESTION 1

  1. Scenario 1: Schizophrenia

A 22-year-old female student was brought to her college student health department by her boyfriend. He was concerned about the changes in her behavior. The boyfriend noted that she has been hearing voices, and seeing things that are not there. She also thinks that there are people that want to harm her. She told her family that she cannot finish college as the voices told her to quit because she is “dumb”.  The boyfriend relates episodes of unexpected rage and crying.

PMH:  noncontributory

FH: positive for a first cousin who “had mental problems”.

SH: Denies current drug abuse but states he smoked marijuana every day during junior and senior years of high school. Admits to drinking heavily on weekends at various fraternity houses.

PE: thin, anxious disheveled female who, during conversations, stops talking, tilts her head and appears to be listening to something. There is poor eye contact and conversation is disjointed.

DIAGOSIS: schizophrenia.

Questions

1.     What are known characteristics of schizophrenia and relate those to this patient. 

ORDER A CUSTOMIZED, PLAGIARISM-FREE NURS 6501 Discussion: Alterations in Cellular Processes HERE

QUESTION 2

  1. Scenario 1: Schizophrenia

A 22-year-old female student was brought to her college student health department by her boyfriend. He was concerned about the changes in her behavior. The boyfriend noted that she has been hearing voices, and seeing things that are not there. She also thinks that there are people that want to harm her. She told her family that she cannot finish college as the voices told her to quit because she is “dumb”.  The boyfriend relates episodes of unexpected rage and crying.

PMH:  noncontributory

FH: positive for a first cousin who “had mental problems”.

SH: Denies current drug abuse but states he smoked marijuana every day during junior and senior years of high school. Admits to drinking heavily on weekends at various fraternity houses.

PE: thin, anxious disheveled female who, during conversations, stops talking, tilts her head and appears to be listening to something. There is poor eye contact and conversation is disjointed.

DIAGOSIS: schizophrenia.

Question:

1.     Genetics are sometimes attached to schizophrenia explain this.

QUESTION 3

  1. Scenario 1: Schizophrenia

A 22-year-old female student was brought to her college student health department by her boyfriend. He was concerned about the changes in her behavior. The boyfriend noted that she has been hearing voices, and seeing things that are not there. She also thinks that there are people that want to harm her. She told her family that she cannot finish college as the voices told her to quit because she is “dumb”.  The boyfriend relates episodes of unexpected rage and crying.

PMH:  noncontributory

FH: positive for a first cousin who “had mental problems”.

SH: Denies current drug abuse but states he smoked marijuana every day during junior and senior years of high school. Admits to drinking heavily on weekends at various fraternity houses.

PE: thin, anxious disheveled female who, during conversations, stops talking, tilts her head and appears to be listening to something. There is poor eye contact and conversation is disjointed.

DIAGOSIS: schizophrenia.

Question:

What roles do neurotransmitters play in the development of schizophrenia?

QUESTION 4

  1. Scenario 1: Schizophrenia

A 22-year-old female student was brought to her college student health department by her boyfriend. He was concerned about the changes in her behavior. The boyfriend noted that she has been hearing voices, and seeing things that are not there. She also thinks that there are people that want to harm her. She told her family that she cannot finish college as the voices told her to quit because she is “dumb”.  The boyfriend relates episodes of unexpected rage and crying.

PMH:  noncontributory

FH: positive for a first cousin who “had mental problems”.

SH: Denies current drug abuse but states he smoked marijuana every day during junior and senior years of high school. Admits to drinking heavily on weekends at various fraternity houses.

PE: thin, anxious disheveled female who, during conversations, stops talking, tilts her head and appears to be listening to something. There is poor eye contact and conversation is disjointed.

DIAGOSIS: schizophrenia.

Questions:

Explain what structural abnormalities are seen in people with schizophrenia.

QUESTION 5

  1. Scenario 2: Bipolar Disorder

A 44-year-old female  came to the clinic today brought in by her husband. He notes that she has been with various states of depression and irritability over the past 3 months with extreme fatigue, has lost 20 pounds and has insomnia. He has come home from work to find his wife sitting in front of the TV and not moving for hours.

In the past few days, she suddenly has become very hyperactive, has been talking incessantly, has been easily distracted and seems to “flit from one thing to another.”. She hasn’t slept in 3 days. The wife went on an excessive shopping spree for new clothes that resulted in their credit card being denied for exceeding the line of credit.

The wife is unable to sit in the exam room and is currently pacing the hallway muttering to herself and is reluctant to talk with or be examined the ARNP. Physical observation shows agitated movements, rapid fire speech, and hyperactivity.

DIAGNOSIS: bipolar type 2 disorder.

Question

1.     How does genetics play in the development of bipolar 2 disorders?  

Example Answers to the Assignment: Concepts of Psychological Disorders Knowledge Check

What are the known characteristics of schizophrenia and relate those to this patient?

Schizophrenia is a frightful debilitating psychiatric disorder delineated by chronic or recurrent psychosis. Schizophrenia is a clinical diagnosis based on the DSM-5 criteria. The patient in the case scenario showcases distinct features of schizophrenia. For instance, the age of onset. According to Orrico-Sánchez et al. (2020), the peak age of onset of schizophrenia is usually late teens to mid-thirties which corresponds to her age.

Similarly, schizophrenia manifests with hallucinations, disorganized thought, delusions, and disorganized behavior (Hany et al., 2022). In her case, she has both auditory and visual hallucinations, paranoia, thought blocking, episodes of unexpected rage, and crying. She is untidy and unkempt, a common phenomenon in schizophrenics.

Likewise, she utilized cannabis during her early teen and likely from an urban environment which is a known environmental risk factor for schizophrenia. Individuals with schizophrenia are at risk of concurrent alcohol use. Finally, individuals with schizophrenia have concomitant psychopathologies in their families (Hany et al., 2022). For instance, her first cousin had mental problems.

Genetics are sometimes attached to schizophrenia, explain this

Genetic factors have been implicated in the etiology of schizophrenia. For instance, polymorphisms of the neuregulin, dysbindin, and catecholamine O-methyl transferase genes, that normally participate in brain development and glutamate signaling, glutamate release, and regulation of dopamine function respectively (Hany et al., 2022).

Similarly, the risk of schizophrenia in an individual stands at 10 and 40% if one and both parents are schizophrenic respectively (Orrico-Sánchez et al., 2020). Finally, concordance rates in monozygotic and dizygotic twins are 30-40% and 10-15% respectively (Orrico-Sánchez et al., 2020).

What roles do neurotransmitters play in the development of schizophrenia?

Several studies propose the dysregulation and abnormalities in various neurotransmitters as part of the underlying pathophysiologic mechanisms for the development of schizophrenia. For instance, negative psychotic symptoms are attributed to diminished dopamine in the prefrontal cortical pathway whereas positive psychotic symptoms correlate to increased dopamine in the mesolimbic pathway (Hany et al., 2022).

Similarly, reduced dopamine in the nigrostriatal pathway manifests in schizophrenics as motor symptoms. Other neurotransmitter abnormalities include GABA hypoactivity, serotonergic hyperactivity, diminished glutamatergic neurotransmission, and alpha-adrenergic hyperactivity (Hany et al., 2022).

Explain what structural abnormalities are seen in people with schizophrenia.

Structural and functional alterations to the brain appear consistently in individuals with schizophrenia. For instance, atrophy of the prefrontal cortex, thalamus, and limbic system enlarged third and lateral ventricles, atrophy of the hippocampus and amygdala, and diminished grey matter in the temporal and parietal lobes (Hany et al., 2022).

Consequently, the array of cognitive changes such as inattention, poor executive functioning, impaired coordination, and memory impairment seen in schizophrenics has been attributed to the aforementioned structural changes.

How does genetics play in the development of bipolar 2 disorders?  

Bipolar 2 disorder is characterized by at least an episode of mania and one major depressive disorder with no prior episodes of mania. Bipolar 2 disorder is considered a complex genetic disorder although the mode of transmission is yet to be established. Studies established a correlation between bipolar disorder and single nucleotide polymorphisms (O’Connell & Coombes, 2021).

Furthermore, individuals with first-degree relatives with bipolar disorder have up to a 10% risk of developing the condition as opposed to a 1 to 3% lifetime prevalence in the general population (O’Connell & Coombes, 2021). Finally, monozygotic twins have a concordance rate of approximately 40 to 70% (O’Connell & Coombes, 2021).

References

Hany, M., Rehman, B., Azhar, Y., & Chapman, J. (2022). Schizophrenia. In StatPearls [Internet]. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK539864/

O’Connell, K. S., & Coombes, B. J. (2021). Genetic contributions to bipolar disorder: current status and future directions. Psychological Medicine51(13), 2156–2167. https://doi.org/10.1017/S0033291721001252

Orrico-Sánchez, A., López-Lacort, M., Muñoz-Quiles, C., Sanfélix-Gimeno, G., & Díez-Domingo, J. (2020). Epidemiology of schizophrenia and its management over 8-years period using real-world data in Spain. BMC Psychiatry20(1), 149. https://doi.org/10.1186/s12888-020-02538-8

What are the known characteristics of schizophrenia and relate those to this patient?

Schizophrenia is a frightful debilitating psychiatric disorder delineated by chronic or recurrent psychosis. Schizophrenia is a clinical diagnosis based on the DSM-5 criteria. The patient in the case scenario showcases distinct features of schizophrenia. For instance, the age of onset. According to Orrico-Sánchez et al. (2020), the peak age of onset of schizophrenia is usually late teens to mid-thirties which corresponds to her age.

Similarly, schizophrenia manifests with hallucinations, disorganized thought, delusions, and disorganized behavior (Hany et al., 2022). In her case, she has both auditory and visual hallucinations, paranoia, thought blocking, episodes of unexpected rage, and crying. She is untidy and unkempt, a common phenomenon in schizophrenics.

Likewise, she utilized cannabis during her early teen and likely from an urban environment which is a known environmental risk factor for schizophrenia. Individuals with schizophrenia are at risk of concurrent alcohol use. Finally, individuals with schizophrenia have concomitant psychopathologies in their families (Hany et al., 2022). For instance, her first cousin had mental problems.

Genetics are sometimes attached to schizophrenia, explain this

Genetic factors have been implicated in the etiology of schizophrenia. For instance, polymorphisms of the neuregulin, dysbindin, and catecholamine O-methyl transferase genes, that normally participate in brain development and glutamate signaling, glutamate release, and regulation of dopamine function respectively (Hany et al., 2022).

Similarly, the risk of schizophrenia in an individual stands at 10 and 40% if one and both parents are schizophrenic respectively (Orrico-Sánchez et al., 2020). Finally, concordance rates in monozygotic and dizygotic twins are 30-40% and 10-15% respectively (Orrico-Sánchez et al., 2020).

What roles do neurotransmitters play in the development of schizophrenia?

Several studies propose the dysregulation and abnormalities in various neurotransmitters as part of the underlying pathophysiologic mechanisms for the development of schizophrenia. For instance, negative psychotic symptoms are attributed to diminished dopamine in the prefrontal cortical pathway whereas positive psychotic symptoms correlate to increased dopamine in the mesolimbic pathway (Hany et al., 2022).

Similarly, reduced dopamine in the nigrostriatal pathway manifests in schizophrenics as motor symptoms. Other neurotransmitter abnormalities include GABA hypoactivity, serotonergic hyperactivity, diminished glutamatergic neurotransmission, and alpha-adrenergic hyperactivity (Hany et al., 2022).

Explain what structural abnormalities are seen in people with schizophrenia.

Structural and functional alterations to the brain appear consistently in individuals with schizophrenia. For instance, atrophy of the prefrontal cortex, thalamus, and limbic system enlarged third and lateral ventricles, atrophy of the hippocampus and amygdala, and diminished grey matter in the temporal and parietal lobes (Hany et al., 2022).

Consequently, the array of cognitive changes such as inattention, poor executive functioning, impaired coordination, and memory impairment seen in schizophrenics has been attributed to the aforementioned structural changes.

How does genetics play in the development of bipolar 2 disorders?  

Bipolar 2 disorder is characterized by at least an episode of mania and one major depressive disorder with no prior episodes of mania. Bipolar 2 disorder is considered a complex genetic disorder although the mode of transmission is yet to be established. Studies established a correlation between bipolar disorder and single nucleotide polymorphisms (O’Connell & Coombes, 2021).

Furthermore, individuals with first-degree relatives with bipolar disorder have up to a 10% risk of developing the condition as opposed to a 1 to 3% lifetime prevalence in the general population (O’Connell & Coombes, 2021). Finally, monozygotic twins have a concordance rate of approximately 40 to 70% (O’Connell & Coombes, 2021).

References

Hany, M., Rehman, B., Azhar, Y., & Chapman, J. (2022). Schizophrenia. In StatPearls [Internet]. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK539864/

O’Connell, K. S., & Coombes, B. J. (2021). Genetic contributions to bipolar disorder: current status and future directions. Psychological Medicine51(13), 2156–2167. https://doi.org/10.1017/S0033291721001252

Orrico-Sánchez, A., López-Lacort, M., Muñoz-Quiles, C., Sanfélix-Gimeno, G., & Díez-Domingo, J. (2020). Epidemiology of schizophrenia and its management over 8-years period using real-world data in Spain. BMC Psychiatry20(1), 149. https://doi.org/10.1186/s12888-020-02538-8

What are the known characteristics of schizophrenia and relate those to this patient?

Schizophrenia is a frightful debilitating psychiatric disorder delineated by chronic or recurrent psychosis. Schizophrenia is a clinical diagnosis based on the DSM-5 criteria. The patient in the case scenario showcases distinct features of schizophrenia. For instance, the age of onset. According to Orrico-Sánchez et al. (2020), the peak age of onset of schizophrenia is usually late teens to mid-thirties which corresponds to her age.

Similarly, schizophrenia manifests with hallucinations, disorganized thought, delusions, and disorganized behavior (Hany et al., 2022). In her case, she has both auditory and visual hallucinations, paranoia, thought blocking, episodes of unexpected rage, and crying. She is untidy and unkempt, a common phenomenon in schizophrenics.

Likewise, she utilized cannabis during her early teen and likely from an urban environment which is a known environmental risk factor for schizophrenia. Individuals with schizophrenia are at risk of concurrent alcohol use. Finally, individuals with schizophrenia have concomitant psychopathologies in their families (Hany et al., 2022). For instance, her first cousin had mental problems.

Genetics are sometimes attached to schizophrenia, explain this

Genetic factors have been implicated in the etiology of schizophrenia. For instance, polymorphisms of the neuregulin, dysbindin, and catecholamine O-methyl transferase genes, that normally participate in brain development and glutamate signaling, glutamate release, and regulation of dopamine function respectively (Hany et al., 2022).

Similarly, the risk of schizophrenia in an individual stands at 10 and 40% if one and both parents are schizophrenic respectively (Orrico-Sánchez et al., 2020). Finally, concordance rates in monozygotic and dizygotic twins are 30-40% and 10-15% respectively (Orrico-Sánchez et al., 2020).

What roles do neurotransmitters play in the development of schizophrenia?

Several studies propose the dysregulation and abnormalities in various neurotransmitters as part of the underlying pathophysiologic mechanisms for the development of schizophrenia. For instance, negative psychotic symptoms are attributed to diminished dopamine in the prefrontal cortical pathway whereas positive psychotic symptoms correlate to increased dopamine in the mesolimbic pathway (Hany et al., 2022).

Similarly, reduced dopamine in the nigrostriatal pathway manifests in schizophrenics as motor symptoms. Other neurotransmitter abnormalities include GABA hypoactivity, serotonergic hyperactivity, diminished glutamatergic neurotransmission, and alpha-adrenergic hyperactivity (Hany et al., 2022).

Explain what structural abnormalities are seen in people with schizophrenia.

Structural and functional alterations to the brain appear consistently in individuals with schizophrenia. For instance, atrophy of the prefrontal cortex, thalamus, and limbic system enlarged third and lateral ventricles, atrophy of the hippocampus and amygdala, and diminished grey matter in the temporal and parietal lobes (Hany et al., 2022).

Consequently, the array of cognitive changes such as inattention, poor executive functioning, impaired coordination, and memory impairment seen in schizophrenics has been attributed to the aforementioned structural changes.

How does genetics play in the development of bipolar 2 disorders?  

Bipolar 2 disorder is characterized by at least an episode of mania and one major depressive disorder with no prior episodes of mania. Bipolar 2 disorder is considered a complex genetic disorder although the mode of transmission is yet to be established. Studies established a correlation between bipolar disorder and single nucleotide polymorphisms (O’Connell & Coombes, 2021).

Furthermore, individuals with first-degree relatives with bipolar disorder have up to a 10% risk of developing the condition as opposed to a 1 to 3% lifetime prevalence in the general population (O’Connell & Coombes, 2021). Finally, monozygotic twins have a concordance rate of approximately 40 to 70% (O’Connell & Coombes, 2021).

References

Hany, M., Rehman, B., Azhar, Y., & Chapman, J. (2022). Schizophrenia. In StatPearls [Internet]. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK539864/

O’Connell, K. S., & Coombes, B. J. (2021). Genetic contributions to bipolar disorder: current status and future directions. Psychological Medicine51(13), 2156–2167. https://doi.org/10.1017/S0033291721001252

Orrico-Sánchez, A., López-Lacort, M., Muñoz-Quiles, C., Sanfélix-Gimeno, G., & Díez-Domingo, J. (2020). Epidemiology of schizophrenia and its management over 8-years period using real-world data in Spain. BMC Psychiatry20(1), 149. https://doi.org/10.1186/s12888-020-02538-8

NURS 6521 Module 7 Assignment: Case Study Analysis

Please be mindful of plagiarism and APA format, I have included the rubric. Please use my course resources as one of my references as instructed. Please include McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier in the references.

Learning Resources

Required Readings (click to expand/reduce)

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

Chapter 24: Structure and Function of the Reproductive Systems (stop at Tests of reproductive function); Summary Review
Chapter 25: Alterations of the Female Reproductive System (stop at Organ prolapse); pp. 787–788 (start at Impaired fertility) (stop at Disorders of the female breast); Summary Review
Chapter 26: Alterations of the Male Reproductive System (stop at Hormone levels); Summary Review
Chapter 27: Sexually Transmitted Infections, including Summary Review
Chapter 28: Structure and Function of the Hematological System (stop at Clinical evaluation of the hematological system); Summary Review
Chapter 29: Alterations of Erythrocytes, Platelets, and Hemostatic Function, including Summary Review
Chapter 30: Alterations of Leukocyte and Lymphoid Function, including Summary Review
Low, N. & Broutet N. J. (2017). Sexually transmitted infections – Research priorities for new challenges. PLoS Medicine, (12), e1002481

Kessler, C. M. (2019). Immune thrombocytopenic purpura LK1. Retrieved from https://emedicine.medscape.com/article/202158-overview

Nagalia, S. (2019). Pernicious anemia[LK1] . Retrieved from https://emedicine.medscape.com/article/204930-overview#a3

Stauder, R., Valent, P., & Theurl, I. LK1. Anemia at older age: Etiologies, clinical implications and management. Blood Journal, 131(5). Retrieved from http://www.bloodjournal.org/content/131/5/505?sso-checked=true

Credit Line: Anemia at older age: Etiologies, clinical implications and management by Stauder, R., Valent, P., & Theurl, I., in Blood Journal, Vol. 131/Issue 5. Copyright 2019 by American Society of Hematology. Reprinted by permission of American Society of Hematology via the Copyright Clearance Center.

Module 7 Assignment: Case Study Analysis

An understanding of the factors surrounding women’s and men’s health, infections, and hematologic disorders can be critically important to disease diagnosis and treatment in these areas. This importance is magnified by the fact that some diseases and disorders manifest differently based on the sex of the patient.

Effective disease analysis often requires an understanding that goes beyond the human systems involved. The impact of patient characteristics, as well as racial and ethnic variables, can also have an important impact.

An understanding of the symptoms of alterations in systems based on these characteristics is a critical step in diagnosis and treatment of many diseases. For APRNs, this understanding can also help educate patients and guide them through their treatment plans.

In this Assignment, you examine a case study and analyze the symptoms presented. You identify the elements that may be factors in the diagnosis, and you explain the implications to patient health.

To prepare:

Assignment (1- to 2-page case study analysis)
In your Case Study Analysis related to the scenario provided, explain the following as it applies to the scenario you were provided.

Why a patient would need a splenectomy after a diagnosis of ITP.
Anemia and the different kinds of anemia (i.e., micro and macrocytic).

Case Study:

Scenario 4: A 14-year-old female is brought to the urgent care by her mother, who states that the girl has had an abnormal number of bruises and “funny looking red splotches” on her legs. These bruises were first noticed about 2 weeks ago and are not related to trauma. PMH not remarkable and she takes no medications.

The mother does state the girl is recovering from a “bad case of mono” and was on bedrest at home for the past 3 weeks. The girl noticed that her gums were slightly bleeding when she brushed her teeth that morning.

Labs at urgent care demonstrated normal hgb and hct with normal WBC differential. Platelet count of 100,000/mm3 was the only abnormal finding. The staff also noticed that the venipuncture site oozed for a few minutes after pressure was released. The doctor at urgent care referred the patient and her mother to the ED for a complete work-up of the low platelet count, including a peripheral blood smear for suspected immune thrombocytopenia purpura.

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