Miami Dade College Twin Studies if Available About Epigenetics Discussion

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1. Find some research regarding twin studies (if available) about epigenetics.

2. Discuss the inherited disorders familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, their prevalence, responsible genes, and screening recommendations for those confirmed with the inherited gene.

There are many types of cancers that have a strong cluster in families which is caused by both shared environmental factors and inherited genes (Rogers, 2023, p. 178) which is why primary and secondary prevention are essential for individuals with a family history for colorectal cancer. Colorectal cancer is the second leading cause of death related to cancer which occurs in the United States annually with about one in twenty-one Americans that will develop colorectal cancer (Rogers, 2023, p. 179).

Familial adenomatous polyposis clusters in families due to single-gene trait inheritance (Rogers, 2023, p. 179) meaning that it is an autosomal dominant disorder. Approximately 1 in 8000 Caucasians are affected by this disorder (Rogers, 2023, p. 179). APC, which is the gene responsible for familial adenomatous polyposis, encodes a tumor suppressor (Rogers, 2023, p. 179) therefore allowing tumor cells to proliferate which will lead to tumor development. Familial adenomatous polyposis has the characteristic of polyps located in the gastrointestinal tract (Mantovani et al., 2020, p. 21) which highlights the importance of diagnostics, surveillance, and surgical removal.

Hereditary nonpolyposis colorectal caner is a hereditary form of colorectal cancer that is associated with 3% to 4% of colorectal cancer cases (Rogers, 2023, p. 179). There are six gene mutations responsible for this disorder with the MMR complex that includes: MLH, MSH2, MSH6, PMS2, MLH3, and EPCAM (Mantovani et al., 2020, p. 21). These genes that were just mentioned play a vital role in DNA repair which is detrimental because mutations that cause cancer will remain present in cells which can eventually allow for tumor growth (Rogers, 2023, p. 179) since there is no mechanism in place to prevent proliferation or apoptosis.

Environmental factors can also increase the risk of colorectal cancer such consumption of a high-fat, low-fiber diet (Rogers, 2023, p. 179) which is a topic nurses can teach individuals with an increased risk for developing colorectal cancer. Familial adenomatous polyposis initially occurs in the teenage years therefore prophylactic surgery is the ideal prevention for colorectal cancer (Valle et al., 2019, p. 11). Individuals that have MMR gene mutations are recommended to have a colonoscopy every one to two years, starting at the age of 20-25 years old or two to five years before the family’s youngest age of cancer diagnosis (Mantovani et al., 2020, p. 23). Early detection can help researchers gain valuable data that may assist with the prevention of colorectal cancer in the future.

3. As a medical provider, obtaining a past medical history is critical in providing quality care. A family history of cancer allows a provider an opportunity to perform genetic testing that can shed light on a patient’s susceptibility and risks to hereditary cancers. BRCA and BRCA 2 are two such blood tests that can indicate if you have an elevated risk of getting certain types of cancer. These genes produce proteins that suppress tumor growth. A mutation in the gene allows cells to grow out of control resulting in tumors.T he BRCA and BRCA 2 tests look at gene mutations that put people at risk for breast, ovarian, prostate, and pancreatic cancers. If the genes BRCA and BRCA 2 are positive for a likely pathogenic variant it does not guarantee the development of these types of cancer but provides insight into increased risk and the need for appropriate follow-up screenings. This genetic screening tool is valuable due to the high percentage of women developing breast and ovarian cancers. A positive BRCA mutation can significantly increase a woman’s risk of breast cancer. “To illustrate, whereas the lifetime risk of developing breast cancer in the general population is estimated to be about 12%, the risk for BRCA1/2 mutation carriers could round 70%. Similarly, the risk of ovarian cancer in the general population is estimated to be 1%-2%, whereas that of BRCA1/2 mutation carriers could range between 20% and 40%” (Petrova et al., 2022). In pancreatic cancer, a positive BRCA is about 5% compared with 1% for the general population. Men who have a positive BRCA mutation have close to a 50% chance of developing prostate cancer compared to 13 % in the general population.

This type of genetic cancer screening can be an important tool for identifying high risk patients and comes with sensitive ethical concerns for providers and patients to consider. With the help of a specialist, we can develop a guided treatment plan suited to meet the needs of an individual. However, there are several ethical concerns regarding how to proceed once a confirmed genetically inherited mutation is found. How do we proceed once we have identified that a person has a potential ticking time bomb in them? Providers should be tasked with educating patients on the risks and benefits along with long-term care moving forward.

Genetic counselors can work with other experts to develop an individualized plan of care suited for a client. Follow-up screening will depend on a variety of factors including lifestyle, age, sex, and family medical history. For people with a positive BRCA test some of the following recommendations can be made. For high-risk breast cancer an annual mammogram and MRIs continue throughout a lifetime. For prostate cancer, regular prostate exams and PSA testing are done. In ovarian cancer, screening includes increased pelvic exams, transvaginal ultrasounds and blood tests for tumor markers. No effective screen tools are available for high-risk pancreatic cancer patients. Because of genetic cancer screening, providers should be prepared to provide counseling to help people cope with positive results. I personally believe some people are better off not knowing the results of genetic testing. Meanwhile, patients who are active participants in treatment can be empowered by the information. As a result, genetic testing should be done after thoughtful discussion with patients.

4. Research topic is:

In adolescents diagnosed with bipolar one disorder (P), how does psychotherapy (I), compared to pharmacotherapy (C), affect the risk of inpatient hospitalization (O)?

After working in several inpatient psychiatric units, I noticed an alarming number of adolescent patients diagnosed with bipolar disorder who were constantly readmitted to inpatient psychiatric units. I am curious to see if patients who follow up with psychotherapy are less at risk for being hospitalized when compared to patients who receive medication management. This topic is meaningful because patients diagnosed with bipolar one disorder face complex challenges. Significantly detrimental psychosocial effects of bipolar disease include familial problems, interpersonal problems, academic problems, an increased risk of suicidality, and substance misuse (Birmaher, 2013). I want to identify how to treat these patients and provide the resources necessary to avoid hospitalization and further issues.

5. My proposed research topic is the link between hypertension and stroke. One of the reasons I selected this topic is from managing the care of such patients in the unit I work on. While there are various reasons for an individual to suffer a stroke, my interest lies in the correlation between hypertension and the likelihood of having a stroke. I have taken care of numerous patients who unfortunately suffered a stroke due to uncontrolled hypertension. This topic is meaningful in the field of nursing for various reasons. Depending on which unit you work in, you may be frequently taking care of patients who have suffered a stroke. A study conducted by Pathak et al., (2018) discovered that 65% of stroke patients also had hypertension. The outcomes of a stroke can be devastating for both the patient and their family. Hypertension is something that can be managed and therefore, help in decreasing the likelihood of suffering a stroke.

Problem Statement: Adequate management of hypertension is a critical modifiable risk factor for stroke.

Would appreciate any feedback on my problem statement. Thank you.

6. Conduction a literature review can be challenging for students who need an effective research question. To do this, students should formulate a PICOT question that allows readers to identify the problem and how it will be applied and synthesized in the paper. Mental health is also controversial, with plenty of conflicting data that may confuse a researcher if they do not narrow down their topic. I will ensure I write a successful literature review by gathering research data published within the last ten years. This will ensure that the information I gathered is up to date with current practice. As a researcher, collecting scholarly and peer-reviewed data is essential. This will ensure that the reader gets information based on evidence-based practice and has been analyzed by other professionals for its validity. As a researcher, it is also essential to identify the different elements of a research paper. One can understand literature reviews as independent studies by appreciating the five core components—types, focuses, considerations, techniques, and contributions (Kraus et al., 2022). One of the challenges I foresee when writing my literature reviews is the lack of research on the topic being discussed. Another challenge may be comparing the two subjects to one research topic. I will address both these issues by creating a compelling PICOT question.

7. There are several critical components of a good literature review. Probably the most significant is ensuring that the literature is peer-reviewed and scholarly. This is particularly important these days because most research is now conducted online and anyone can post essentially anything. Some websites and blogs can even be presented in a professional manner; however, they can still be solely based on someone’s opinions and beliefs without cited evidence. According to Tappen (2016), “Probably the most important principle to follow in assessing the credibility of information is to know your source” (p. 15). Additionally, a good literature review should have a clearly stated research question that will guide the rest of the paper. In order to write a successful literature review for my planned research proposal I will need to collect a variety of sources and literature to review and ensure the sources are credible. I have never written a literature review so that in itself will be a challenge. Since this is a new concept, each step in writing the literature review will have its own challenges. I believe my topic will have a lot of valuable research, the challenge however, will be to filter and select relevant information pertaining to my topic.

8. When writing a prescription, areas you must include:

Prescriber name, license number, and contact information
• Prescriber U.S. Drug Enforcement Administration (DEA) number, if applicable
• Patient name and date of birth
• Patient allergies
• Name of medication
• Indication of medication (e.g., atenolol for hypertension)
• Medication strength (e.g., 25 mg, 500 mg/mL)
• Dose of medication and frequency (e.g., 12.5 mg once daily)
• Number of tablets or capsules to dispense
• Number of refills

Look out for misuse of abbreviations to create clear communication amongst provider to pharmacy and accuracy with patient.

Vearhaus Family Practice
Wanda Vearhaus, FNP-C
1933 S. Chanell Road Bakersfield, CA 98504
PHONE: 650-988-1254
PATIENT NAME: Abigail Thompkins DATE: 05/08/2023
ALLERGIES: NKDA Relevant
MEDICAL RECORD NUMBER: DOB: 11/21/16
MEDICATION: Amoxicillin STRENGTH: 125mg/5ml QUANTITY: 50ml
DIRECTIONS FOR USE: 5ml q24 hours for 10 days
INDICATION FOR USE: infection/ Right acute serous otitis media REFILLS: 0
PRESCRIBER SIGNATURE: Wanda Vearhaus FNP DEA#: 12345
LICENSE #: 123456 NPI#: 7891011
CONTACT#: 951 777-7777

provide feedback from the information above

9. Why should you instruct the parents to complete the entire course of antibiotics even if the child’s symptoms improve?

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