DNP-810 Topic 2 DQ 1 Identify a complex inheritance health issue you encountered in your clinical practice or personal life

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Topic 2 DQ 1

Jun 16-18, 2022

Identify a complex inheritance health issue you encountered in your clinical practice or personal life. How would you approach working with a patient of a complex inheritance health issue? Explain. Support your rationale with a minimum of two scholarly sources.

REPLY TO DISCUSSION

Amanda Clark

Jun 22, 2022, 9:52 AM

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CAT: We are ending week 2 already! Did anyone have any questions needing answered about this week’s content?

Carolyn Smith

Jun 19, 2022, 1:25 PM

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Replies to Amanda Clark

Health conditions caused by many contributing factors are called complex or multifactorial disorders. According to various research work, nearly all conditions and diseases have a genetic component. Although complex disorders often cluster in families, they do not have a definitive pattern of inheritance. Some hereditary disorders, such as sickle cell disease and cystic fibrosis, are caused by variants (also known as mutations) in single genes. MedlinePlus. (2021). In my area of practice and on a personal basis I have come across patients and community members who suffer from Sickle Cell Disease.

Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11 making it the most inherited blood disorder in the United States. Approximately 100,000 Americans are affected by the condition. In people with sickle cell disease, abnormal hemoglobin molecules – hemoglobin S – stick to one another and form long, rod-like structures. These structures cause red blood cells to stiffen and assume a sickle shape. Their shape causes these red blood cells to pile up, causing blockages and damaging vital organs and tissue. The disease is primarily seen in people of African descent (Genome.gov,2020).

In sickle cell disease, a baby born with disease inherits a gene for the disorder from both parents. When both parents have the genetic defect, there’s a 25 percent chance that each child will be born with sickle cell disease. If a child inherits only one copy of the defective gene (from either parent), there is a 50 percent chance that the child will carry the sickle cell trait. People who only carry the sickle cell trait typically don’t get the disease, but can pass the defective gene on to their children (Genome.gov,2020).

New Treatments Prolong Life:

For a very long time, the life expectancy for people with sickle cell disease was very short. They were not expected to survive childhood. However, with advancement in science and medicine, preventive drug treatment, improved medical care and aggressive research, half of sickle cell patients live beyond 50 years. Treatments for sickle cell include antibiotics, pain management and blood transfusions. A new drug treatment, hydroxyurea, which is an anti-tumor drug, appears to stimulate the production of fetal hemoglobin, a type of hemoglobin usually found only in newborns. Fetal hemoglobin helps prevent the “sickling” of red blood cells. Patients treated with hydroxyurea also have fewer attacks of acute chest syndrome and need fewer blood transfusions (Genome.gov,2020).

Gene Therapy Offers Promise of a Cure:

Researchers are experimenting with attempts to cure sickle cell disease by correcting the defective gene and inserting it into the bone marrow of those with sickle cell to stimulate production of normal hemoglobin. Recent experiments show promise.

However, in African countries where accessing quality healthcare is a huge challenge, and it’s estimated that that approximately 40 million people in Nigeria (which is the epicenter of SCD in Africa), are healthy carriers of the disease, the preventive strategy is through campaigns for people to know their genotype status before dating and getting married. It has become a requirement for getting married (DW, 2022). My friend and her husband who got married in 2013 were asked to provide their genotype status before they were allowed to wed.

References

MedlinePlus. (2021). What are complex or multifactorial disorders? – MedlinePlus

medlineplus.gov/genetics/understanding/mutationsanddisorders/complexdisorders/

About Sickle Cell Disease – Genome.gov

https://www.genome.gov/Genetic-Disorders/Sickle-Cell-Disease

May 26, 2020 ·

(2022). Combating the spread of sickle cell disease in Nigeria –

https://www.dw.com › combating-the-spread-of-sickle-…

Christopher McCorkle

replied toCarolyn Smith

Jun 19, 2022, 6:20 PM

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Replies to Carolyn Smith

Marvelous posting, Carolyn. The potential impact of gene therapy treatment cannot be stressed enough. Sickle cell patients are constantly afraid of the following pain attack. This therapy has the potential to revive those affected by this disease. I recognize that a bone marrow transplant can cure sickle cell disease (Dowaidar, 2021).

Nevertheless, this therapy has the best chance of success in patients with a closely matched sibling donor, which is only a minority of patients (Dowaidar, 2021). Hopefully, bone marrow therapy will also work for younger patients to grow up without suffering from pain attacks and live longer. Thus, gene therapy may be a limitation because patients must first be treated with high-dose chemotherapy to rule out old stem cells.

Reference

Dowaidar, M. (2021). Sickle cell disease hematopoietic stem cell gene therapy with globin gene addition is promising. https://doi.org/10.31219/osf.io/j5fkb

Amanda Clark

replied toChristopher McCorkle

Jun 21, 2022, 6:24 PM

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Replies to Christopher McCorkle

Great additional info Christopher!

Elsie Nlerum

replied toCarolyn Smith

Jun 19, 2022, 9:26 PM

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Replies to Carolyn Smith

Hello Carolyn,

Thanks for your informative post on sickle cell disease. Sickle cell disease is an inherited hemoglobin disorder. The abnormal hemoglobin causes red blood cells (RBCs) to deform into a sickle shape, which results in premature death of the RBCs, interruption of blood flow, damage to multiple tissues and organs, and an increased risk for early death. Improvements in interventions made during recent years have made it possible to treat complications more effectively and have decreased mortality in pediatric patients. The Life expectancy may vary depending on the type of disease, the treatments administered, and the complications that arise during the course of the disease. Most patients with SCD experience long-term morbidities and complications, such as Vaso-occlusive crises, acute chest syndrome, stroke, silent infarcts, renal failure, and pulmonary hypertension. Thus, their life expectancy is reduced compared with that of the general population. Recently, it is estimated that the life expectancy of adults with SCD to be 54 years (Lubeck D, Agodoa I, Bhakta N, et al, 2019).

Reference

Lubeck D, Agodoa I, Bhakta N, et al. Estimated life expectancy and income of patients with sickle cell disease compared with those without sickle cell disease. JAMA Netw Open. 2019;2(11):e1915374. doi:10.1001/jamanetworkopen.2019.15374

Margaret Mbachu

replied toCarolyn Smith

Jun 22, 2022, 10:10 PM

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Replies to Carolyn Smith

Thanks, Carolyn for your post.

I agree with you that Hydroxyurea daily is the therapeutic gold standard treatment for patients with SCD in reducing acute events. Although, it does not appear to prevent the cardiopulmonary events that account for the high SCD-related mortality rate, but reduces the frequency of painful crises, transfusions, and hospitalizations. FDA regulations indicate not to use Hydrea, (Droxia or Siklos) during pregnancy as it can increase the risk of harm to the unborn baby (Allin, Set al., 2021).

Please permit me to add that, L-glutamine is an oral powder (Endari) recently approved by the FDA for the treatment of sickle cell anemia which helps in reducing the frequency of pain crises (Allin, Set al., 2021).

Patients with sickle cell disease have chronic anemia and blood transfusions are used to treat and

DNP-810 Topic 2 DQ 1 Identify a complex inheritance health issue you encountered in your clinical practice or personal life

prevent complications, such as stroke and painful crisis (Allin, Set al., 2021).

Federal Drug Administration (FDA) regulations approved stem cell transplants for the cure of SCD disease in children and teenagers. Bone marrow transplant is done using a matched healthy donor and is recommended for people with significant symptoms and severe complications of sickle cell anemia (Allin, Set al., 2021).

Reference

Allin, S., Martin, E., Rudoler, D., Church Carson, M., Grudniewicz, A., Jopling, S., & Strumpf,

(2021). In Health policy.Comparing public policies impacting prescribing and medication management in primary care in two Canadian provinces. Retrieved from DOI: 10.1016/j.healthpol.2021.06.002

Grading Rubric Guidelines

Performance Category	10	9	8	4	0
Scholarliness Demonstrates achievement of scholarly inquiry for professional and academic decisions.	Provides relevant evidence of scholarly inquiry clearly stating how the evidence informed or changed professional or academic decisions Evaluates literature resources to develop a comprehensive analysis or synthesis. Uses valid, relevant, and reliable outside sources to contribute to the threaded discussion	Provides relevant evidence of scholarly inquiry but does not clearly state how the evidence informed or changed professional or academic decisions. Evaluates information from source(s) to develop a coherent analysis or synthesis. Uses some valid, relevant, reliable outside sources to contribute to the threaded discussion.	Discusses using scholarly inquiry but does not state how scholarly inquiry informed or changed professional or academic decisions. Information is taken from source(s) with some interpretation/evaluation, but not enough to develop a coherent analysis or synthesis. Little valid, relevant, or reliable outside sources are used to contribute to the threaded discussion. Demonstrates little or no understanding of the topic.	Discusses using scholarly inquiry but does not state how scholarly inquiry informed or changed professional or academic decisions. Information is taken from source(s) without any interpretation/evaluation. The posting uses information that is not valid, relevant, or reliable	No evidence of the use of scholarly inquiry to inform or change professional or academic decisions. Information is not valid, relevant, or reliable
Performance Category	10	9	8	4	0
Application of Course Knowledge – Demonstrate the ability to analyze, synthesize, and/or apply principles and concepts learned in the course lesson and outside readings and relate them to real-life professional situations	Posts make direct reference to concepts discussed in the lesson or drawn from relevant outside sources; Applies concepts to personal experience in the professional setting and or relevant application to real life.	Posts make direct reference to concepts discussed in the lesson or drawn from relevant outside sources. Applies concepts to personal experience in their professional setting and or relevant application to real life Interactions with classmates are relevant to the discussion topic but do not make direct reference to lesson content	Posts are generally on topic but do not build knowledge by incorporating concepts and principles from the lesson. Does not attempt to apply lesson concepts to personal experience in their professional setting and or relevant application to real life Does not demonstrate a solid understanding of the principles and concepts presented in the lesson	Posts do not adequately address the question posed either by the discussion prompt or the instructor’s launch post. Posts are superficial and do not reflect an understanding of the lesson content Does not attempt to apply lesson concepts to personal experience in their professional setting and or relevant application to real life	Posts are not related to the topics provided by the discussion prompt or by the instructor; attempts by the instructor to redirect the student are ignored No discussion of lesson concepts to personal experience in the professional setting and or relevant application to real life
Performance Category	5	4	3	2	0
Interactive Dialogue Replies to each graded thread topic posted by the course instructor, by Wednesday, 11:59 p.m. MT, of each week, and posts a minimum of two times in each graded thread, on separate days. *(5 points possible per graded thread)*	Exceeds minimum post requirements Replies to each graded thread topic posted by the course instructor, by Wednesday, 11:59 p.m. MT, of each week, and posts three or more times in each graded thread, over three separate days. Replies to a post posed by faculty and to a peer Summarizes what was learned from the lesson, readings, and other student posts for the week.	Replies to each graded thread topic posted by the course instructor, by Wednesday, 11:59 p.m. MT, of each week, and posts a minimum of two times in each graded thread, on separate days Replies to a question posed by a peer Summarizes what was learned from the lesson, readings, and other student posts for the week.	Meets expectations of 2 posts on 2 different days. The main post is not made by the Wednesday deadline Does not reply to a question posed by a peer or faculty	Has only one post for the week Discussion posts contain few, if any, new ideas or applications; often are a rehashing or summary of other students’ comments	Does not post to the thread No connections are made to the topic
	Minus 1 Point	Minus 2 Point	Minus 3 Point	Minus 4 Point	Minus 5 Point
Grammar, Syntax, APA Note: if there are only a few errors in these criteria, please note this for the student in as an area for improvement. If the student does not make the needed corrections in upcoming weeks, then points should be deducted. Points deducted for improper grammar, syntax and APA style of writing. The source of information is the APA Manual 6th Edition	2-3 errors in APA format. Written responses have 2-3 grammatical, spelling, and punctuation errors. Writing style is generally clear, focused, and facilitates communication.	4-5 errors in APA format. Writing responses have 4-5 grammatical, spelling and punctuation errors. Writing style is somewhat focused.	6-7 errors in APA format. Writing responses have 6-7 grammatical, spelling and punctuation errors. Writing style is slightly focused making discussion difficult to understand.	8-10 errors in APA format. Writing responses have 8-10 grammatical, spelling and punctuation errors. Writing style is not focused, making discussion difficult to understand.	Post contains greater than 10 errors in APA format. Written responses have more than 10 grammatical, spelling and punctuation errors. Writing style does not facilitate communication. The student continues to make repeated mistakes in any of the above areas after written correction by the instructor
	0 points lost				-5 points lost
Total Participation Requirements *per discussion thread*	The student answers the threaded discussion question or topic on one day and posts a second response on another day.				The student does not meet the minimum requirement of two postings on two different days
Early Participation Requirement *per discussion thread*	The student must provide a substantive answer to the graded discussion question(s) or topic(s), posted by the course instructor (not a response to a peer), by Wednesday, 11:59 p.m. MT of each week.				The student does not meet the requirement of a substantive response to the stated question or topic by Wednesday at 11:59 pm MT.

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