DNP 810 Identify a specific disease encountered in your clinical practice or personal life
DNP 810 Identify a specific disease encountered in your clinical practice or personal life
Diabetes is an everyday health problem today. Diabetes is a debilitating health condition that affects people throughout the world. Patients with diabetes suffer from multisystemic complications that may cause mortality and morbidity. Nevertheless, very little is known about how these regulatory programs are poorly regulated regarding diabetes. RNA binding proteins (PBRs) are essential regulators of post-transcriptional RNA networks, which are also out of tune in diabetes (Nutter & Kuyumcu‐Martinez, 2017).
Collaborations among various interdisciplinary teams are the best practice in the development and implementation of most public health interventions. Such approaches draw their success from the fact that it maximizes the likelihood of interventions effectiveness stemming from higher The fundamentals for ensuring collaborative practice is achieved include the cultivation of responsibility, accountability, mutual trust, and respect for one another (Gucciardi, et.al, 2016). Additionally, an environment of effective communication, coordination, and cooperation must be cultivated. Most importantly, team members need to be encouraged to be assertive and independent. It is the nature of the collaborative interactions among the team members that creates a culture of blended professional practice that is characterized by extensive sharing of skills and knowledge, which in turn results in a better and improved quality of care provided to patients.
Gucciardi, E., Espin, S., Morganti, A., & Dorado, L. (2016). Exploring interprofessional collaboration during the integration of diabetes teams into primary care. BMC
family practice, 17(1),
Nutter, C. A., & Kuyumcu‐Martinez, M. N. (2017). Emerging roles of RNA‐binding proteins in diabetes and their therapeutic potential in diabetic complications. WIREs RNA, 9(2). https://doi.org/10.1002/wrna.1459
Hello, thanks for posting re: diabetes. In my current role, diabetes and complications from diabetes is an extremely prevalent diagnosis for patients in the medical records I review. Diabetes is a disease that affects over 34 million people in the United States. (CDC, 2022). Complications related to diabetes are on the rise in people 18-64 years of age and more common in minorities. Interesting facts re: cost of diabetes as per Centers for Disease Control and Prevention, 2022
- 1 out of every $4 in US health care costs is spent on caring for people with diabetes.
- $237 billion‡ is spent each year on direct medical costs and another $90 billion) on reduced productivity.15
- The total economic cost of diabetes rose 60% from 2007 to 2017.
- 61% of diabetes costs are for people 65 years or older, which is mainly paid by Medicare.15
- 48% to 64% of lifetime medical costs for a person with diabetes are for complications related to diabetes, such as heart disease and stroke.
DNP prepared nurses are able to use therapies such as b-cell regeneration, gene therapies, insulin, and oral hypoglycemic medication to help manage diabetes. Being knowledgeable about new treatments of drugs targeting specific medication administration. (Mishra, V. et, al., 2021). Staying up to date on new therapies is important. However, knowledge of basic genetics and hereditary factors can be used when predicting outcomes of diabetes, educating patients and staff, and providing policies for cost effective, quality care.
Centers for Disease Control and Prevention (CDC). (2022). Our impact cost-effectiveness of chronic disease interventions. https://www.cdc.gov/chronicdisease/programs-impact/pop/diabetes.htm
Mishra V, Nayak P, Sharma M, Albutti A, Alwashmi ASS, Aljasir MA, Alsowayeh N, Tambuwala MM. (2021) Emerging treatment strategies for diabetes mellitus and associated complications: an update. Pharmaceutics. 2021; 13(10):1568. https://doi.org/10.3390/pharmaceutics13101568
Click here to ORDER an A++ paper from our Verified MASTERS and DOCTORATE WRITERS DNP 810 Identify a specific disease encountered in your clinical practice or personal life:
Down Syndrome (DS) (also known as trisomy 21) is a genetic disorder at birth characterized by intellectual disabilities and growth delay. Down syndrome effects vary for each individual and can cause congenital heart disease, asthma, sleep apnea and Alzheimer’s, Celiac disease, seizures, childhood leukemia, and autism. DS is caused by the development of three chromosome 21 when the two copies fail to detach during the formation of a woman’s egg. This genetic disorder does not completely have a known cause and is noted to relate to a woman who is giving birth over the age of 35 (Gdsf, 2021).
Growing up with a brother who is DS, many of the healthcare professionals and our own family did not completely understand the cause and the non-disjunction of the chromosomes and how to knowingly treat him based on his developmental delays. My mother had him at the age of 46 therefore it was reported that the cause of his DS was related to maternal age. At the time of his birth and diagnosis, I was pursuing nursing in college and spent time studying the effects and any information I can about DS. Approximately 8 years later, a friend of mine also had given birth to a beautiful baby girl who was also diagnosed with DS. The stigma of DS being age-related was subsiding as she was in her 20’s when she gave birth.
The management of any disease that a person with DS has been treated individually and uses a multidisciplinary approach. Parents of a child with new diagnoses of DS require referrals for genetic testing, counseling, and education regarding potential diseases and DS management (Akhtar & Bokhary, 2021). DS children also undergo speech therapy as speech is often seen delayed. Expressive language sampling (ALS) has been used with DS children to review variables such as expressive language, syntactic maturity, the motivation to speak, articulation of speech, and difficulties in language planning (Thurman, et.al, 2021). A healthcare provider should review the needs of a DS patient with a family member as each reacts differently to treatment. I have learned specifics of what ensures my sibling is comfortable with care and what makes him uncomfortable by listening and managing his genetic disease process for 15 years now.
Akhtar, F., & Bokhari, S. R. (2021, December 12). Down syndrome – statpearls – NCBI bookshelf. National Library of Medicine. Retrieved June 14, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK526016/
Gdsf. (2021, October 13). FAQ and facts about down syndrome. Global Down Syndrome Foundation. Retrieved June 12, 2022, from https://www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/?gclid=EAIaIQobChMInICMzdmp-AIVMRh9Ch2XSApAEAAYAiAAEgIEyfD_BwE
Thurman, A. J., Edgin, J. O., Sherman, S. L., Sterling, A., McDuffie, A., Berry-Kravis, E., Hamilton, D., & Abbeduto, L. (2021). Spoken language outcome measures for treatment studies in Down syndrome: Feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling. Journal of Neurodevelopmental Disorders, 13(1). https://doi.org/10.1186/s11689-021-09361-6
Specific disease encountered in my clinical practice is the coronary artery disease which is the leading global cause of mortality. Coronary Heart Disease is influenced by environmental and genetic factors. Common variant association studies have linked about 60 genetic loci to coronary risk. As with most complex diseases, an individual’s risk of developing CAD is modulated by an interplay between genetic and lifestyle factors. Cluster analysis revealed three gene clusters associated with CHD, two linked to increased erythrocyte production and a third to reduced natural killer (NK) and T cell activity in CHD cases. There is good evidence that several of these genetic risk variants predispose to CAD through inflammatory pathways. Genetic observations have already contributed to the mainstay therapy of prevention, namely, statin drugs to prevent CAD, and PCSK9 inhibition that will likely enhance and complement statin therapy based on its effects. It is reasonable to assume that genetic risk variants will lead to markers for earlier detection of CAD as well as drug therapies to interrupt or attenuate the risk.
Patient who understands DNARNA replication, transcription and translation in certain hereditary diseases may affect the management of the disease, but the information would be in the simpler form to understand and focused to particular diseases.
Khera, A. V., & Kathiresan, S. (2017). Genetics of coronary artery disease: discovery, biology and clinical translation. Nature reviews. Genetics, 18(6), 331–344. https://doi.org/10.1038/nrg.2016.160
Roberts R. (2014). Genetics of coronary artery disease: an update. Methodist DeBakey cardiovascular journal, 10(1), 7–12. https://doi.org/10.14797/mdcj-10-1-7
During my current practice a disease that shows up frequently is kidney disease, chronic kidney disease (CKD) and end-stage renal disease (ESRD) CKD often accompanied other chronic illnesses such as hypertension (HTN) and cardiovascular disease (CV). Noncoding RNAs have been shown to be useful to diagnose and provide prognostic biomarkers in patients with chronic renal disease. (Moreno, et al, 2021)
Noncoding RNAs (ncRNAs) genes represent half of identified human genes. MicroRNAs (miRNAs) is an example of a noncoding gene in the human genome, and long no-coding RNAs (lncRNAs) The role played in cellular infrastructure is generic. MiRNAs down-regulate with various combinations of targeted RNAs in tissues. Combined with miRNAs they can control activity of 30% of all protein-coding genes in the genomes. Mutations in these genes have been noted in cancer, developmental disorders, and r diseases affecting adults that may have improved outcomes if diagnosed early. (Naussbaum, 2016) Abnormal levels of certain classes of miRNAs have been reported in a wide variety of cancers, central nervous system disorders, and cardiovascular disease. Although noncoding RNAs are , studies show they can be used in diagnosing and staging of some renal diseases (Moreno, et al, 2021). New therapies are being developed using ncRNAs is currently challenging, but using miRNAs continue to serve an important value to kidney disease. ( Moreno, et al, 2021)The affect or diagnosis that can be made through gene therapy can be beneficial in long term renal diseases like diabetic nephropathy, lupus, and renal cancers.
Moreno, J. A., Hamza, E., Guerrero-Hue, M., Rayego-Mateos, S., García-Caballero, C., Vallejo-Mudarra, M., Metzinger, L., & Metzinger-Le Meuth, V. (2021). Non-Coding RNAs in Kidney Diseases: The Long and Short of Them. International Journal of Molecular Sciences, 22(11), 6077. https://doi.org/10.3390/ijms22116077
Naussbaum, R. L., McInnes, R. R., & Willard, H. F. (2016). Thompson and Thompson genetics in medicine (8th ed.). Elsevier. ISBN-13: 9781437706963
Schizophrenia commonly has a chronic course although with fluctuating patterns, and cognitive disability. Its hallmark is psychosis, mainly characterized by positive symptoms such as hallucinations and delusions that are frequently accompanied by symptoms such as reduced emotions, speech, and interest, and by disorganization symptoms such as disrupted syntax and behavior. Severe mood symptoms, including manic and major depressive episodes, are present in many cases. There are no diagnostic laboratory tests for schizophrenia; instead, the diagnosis relies on clinical observation and self-report. It is then remarkable that ongoing epidemiological study over the last century using the clinical phenotype, but with variable ascertainment and assessment rules, has consistently shown the importance of genetic factors in schizophrenia (Hess JL, Quinn TP, Akbarian S, Glatt SJ. 2014).
Several for brain cell receptors that are activated by the neurotransmitter acetylcholine, implying that variations in the functions of these receptors can help bring about schizophrenia. There is a lot of clinical and pharmacologic data suggesting that changes in acetylcholine signaling in the brain can worsen schizophrenia symptoms. Schizophrenia tends to run in families, but no single gene is thought to be responsible (Girgenti MJ, LoTurco JJ, Maher BJ. 2012).
It is more likely that different combinations of genes make people more vulnerable to the condition. However, having these genes does not necessarily mean that the individual will develop schizophrenia. Evidence that the disorder is partly inherited comes from studies of twins. Identical twins share the same genes. In identical twins, if a twin develops schizophrenia, the other twin has a 1 in 2 chance of developing it, too. This is true even if they are raised separately. In non-identical twins, who have different genetic make-ups, when a twin develops schizophrenia, the other only has a 1 in 8 chance of developing the condition (Tecelão D, Mendes A, Martins D, Fu C, Chaddock CA, Picchioni MM, et al. 2019).
Girgenti MJ, LoTurco JJ, Maher BJ. ZNF804a regulates expression of the schizophrenia-associated genes PRSS16, COMT, PDE4B, and DRD2. PLoS One. 2012;7(2): e32404. https://doi.org/10.1371/journal.pone.0032404.
Hess JL, Quinn TP, Akbarian S, Glatt SJ. Bioinformatic analyses and conceptual synthesis of evidence linking ZNF804A to risk for schizophrenia and bipolar disorder. Am J Med Genet Part B Neuropsychiatr Genet.2015;168(1):14–35. https://doi.org/10.1002/ajmg.b.32284.
Tecelão D, Mendes A, Martins D, Fu C, Chaddock CA, Picchioni MM, et al. The effect of psychosis associated CACNA1C, and its epistasis with ZNF804A, on brain function. Genes, Brain Behav. 2019;18(4). https://doi.org/10.1111/gbb.12510
The study of genomes has shown that with each cell division, and as DNA is replicated, a small portion of the very end of the telomeres fails to be replicated, and the chromosome subsequently shortens with each cell division. Telomerase is an enzyme that can prevent human chromosome shortening but is usually inactive in normal cells. In DNA replication and telomeres lifespan, a normal cell can only undergo a certain number of cell divisions before the telomeres are completely gone. In most healthy cells, the telomerase enzyme is inactive (Quizlet, 2022).
Human telomeres play an important role in the critical processes underlying genome stability, cancer, and aging (Xu, 2011). Telomeres are known to maintain the integrity of genomes in normal cells, and their subsequent progressive shortening during successive cell divisions induces chromosomal instability. In the large majority of cancer cells, telomere length is maintained by telomerase. Thus, telomere length and telomerase activity are crucial for cancer initiation and the survival of tumors. Several pathways that regulate telomere length have been identified, and genomic studies have helped in mapping genes that are involved in the control of telomeric length (Jafri, et al, 2016).
According to a recent study, all cancers occur because of errors in the DNA replication process. Our knowledge of cell biology shows that every single cell has a life cycle, and at one point or another, the cell division process will stop and die off. This process is for new cells to replace the dead ones. There may be an error where the DNA in our body is missing certain components such as parts of a gene. When this occurs, cells may develop mutations, grow uncontrollably, or cease working properly. However, our bodies have protective mechanisms that prevent most of these processes. (DeBord, 2019). Each human body is equipped with cells that stop uncontrollable cell division, and this contributes to the production of developing tumors. Likewise, some genes called “mismatch repair genes” work to clean up or repair mistakes in our DNA replication process. This notwithstanding, genetic mutations still occur. When they do, they fall into one of two major categories which are:
1. Inherited genetic mutations that is congenital (from birth). These are only responsible for 5-10 percent of all cancers. People who have inherited a genetic mutation predisposing them to cancer often have cancers at younger ages, under age 50. But not always.
2. Acquired mutations over time. Acquired mutations are much more common, and they explain why cancer usually occurs in older people.
Even though “heritable cancers” only comprise 5-10 percent of all cancer cases, we are learning through expanded DNA testing that the genetic mutations for cancer are more prevalent in the younger population than previously thought (DeBord, 2019).
Cancer is generally an age-related genetic disease, manifesting only when normal cells accumulate genomic instability over a period of time and acquire the capability of replicative immortality (Jafri, et al, 2016).
As a DNP prepared nurse, I can educate my patients that they cannot change their genes. But they can do something about their risks to the disease. Research shows proper nutrition, exercise, avoiding carcinogens, limiting alcohol and other health enhancement actions can help reduce their risk for all types of cancer. Knowledge is power and acting on that knowledge can help patients make the best choices to protect your health.
Xu, Y. (2011). Chemistry in human telomere biology: structure, function and targeting of telomere DNA/RNA. Chemical Society Reviews, 40(5), 2719-2740.
Jafri, M. A., Ansari, S. A., Alqahtani, M. H., & Shay, J. W. (2016). Roles of telomeres and telomerase in cancer, and advances in telomerase-targeted therapies. Genome medicine, 8(1), 69. https://doi.org/10.1186/s13073-016-0324-x
DeBord, S. (2019). How does your DNA affect your risk for cancer?
Quizlet. (2022). DNA Replication, Transcription, and Translation – Quizlet