3 hours ago Tiffany Jones  WEEK 1 Main Post COLLAPSE Top of Form Week 1 Main Post I chose to focus this post on colon cancer with the factor, genetics. Genetics plays a larger role in cancer diagnoses than a lot of people are aware of. Some genetics testing and syndromes are still not even well known to a lot of practitioners, but hopefully, with more research and education this will become something that is used when testing for certain types of cancers or for being proactive to help prevent it. The patient scenario I chose is a personal one. My Aunt was diagnosed with colon and gastric cancer. When another of my paternal aunts was diagnosed with colon cancer their oncologist realized that there could be a genetic factor in play. After doing some genetic testing, it was discovered that my aunts had Lynch Syndrome. “Lynch syndrome is an inherited condition that increases your risk of colon cancer, endometrial cancer, and several other cancers. Lynch syndrome has historically been known as hereditary nonpolyposis colorectal cancer (HNPCC)” (Mayo Clinic, 2018). People with Lynch syndrome typically have a higher chance of getting colon, gastric, and endometrial cancers, along with several others. Lynch syndrome also causes people to get cancer at much younger ages than someone without it; For instance, colon cancer before the age of 50. If a family has a history of Lynch syndrome there is a 50/50 chance that their children and grandchildren will have it also. Colon cancer will typically start as small polyps that are not benign (cancerous), but then become cancerous over time. “It is a multifactorial disease process, with etiology encompassing genetic factors, environmental exposures (including diet), and inflammatory conditions of the digestive tract” (Dragovich, T. 2019). There are many signs and symptoms of colon cancer so it can be difficult to diagnose sometimes, especially since most signs and symptoms do not present early on in the disease process. This is why it is so important to get yearly colonoscopies, especially in people who have Lynch Syndrome. Some of the signs and symptoms patients can experience include changes in bowel habits, blood in the stool, abdominal pain that is persistent, not feeling like your bowels are emptying enough when you go, unexplained weight loss, and weakness or fatigue with no known cause (Mayo Clinic, 2019). A large percentage of colorectal cancer develops from preexisting adenomas. However, this does not mean that every adenoma will become malignant. “The earliest phases of colorectal tumourigenesis initiate in the normal mucosa, with a generalized disorder of cell replication, and with the appearance of clusters of enlarged crypts (aberrant crypts) showing proliferative, biochemical and biomolecular abnormalities” (Leon, P., Gregorio, D., 2001). MicroRNA are small, single-stranded RNA that are noncoding and that can interfere with translation within a cell or cause degradation of the target miRNA. (Y.

1. 3 hours ago
Tiffany Jones
WEEK 1 Main Post
COLLAPSE
Top of Form
Week 1 Main Post
I chose to focus this post on colon cancer with the factor,
genetics. Genetics plays a larger role in cancer diagnoses than a
lot of people are aware of. Some genetics testing and syndromes
are still not even well known to a lot of practitioners, but
hopefully, with more research and education this will become
something that is used when testing for certain types of cancers
or for being proactive to help prevent it.
The patient scenario I chose is a personal one. My Aunt was
diagnosed with colon and gastric cancer. When another of my
paternal aunts was diagnosed with colon cancer their oncologist
realized that there could be a genetic factor in play. After doing
some genetic testing, it was discovered that my aunts had Lynch
Syndrome. “Lynch syndrome is an inherited condition that
increases your risk of colon cancer, endometrial cancer, and
several other cancers. Lynch syndrome has historically been
known as hereditary nonpolyposis colorectal cancer (HNPCC)”
(Mayo Clinic, 2018). People with Lynch syndrome typically
have a higher chance of getting colon, gastric, and endometrial
cancers, along with several others. Lynch syndrome also causes
people to get cancer at much younger ages than someone
without it; For instance, colon cancer before the age of 50. If a
family has a history of Lynch syndrome there is a 50/50 chance
that their children and grandchildren will have it also.
Colon cancer will typically start as small polyps that are not
benign (cancerous), but then become cancerous over time. “It is
a multifactorial disease process, with etiology encompassing
genetic factors, environmental exposures (including diet), and

2. inflammatory conditions of the digestive tract” (Dragovich, T.
2019). There are many signs and symptoms of colon cancer so it
can be difficult to diagnose sometimes, especially since most
signs and symptoms do not present early on in the disease
process. This is why it is so important to get yearly
colonoscopies, especially in people who have Lynch Syndrome.
Some of the signs and symptoms patients can experience
include changes in bowel habits, blood in the stool, abdominal
pain that is persistent, not feeling like your bowels are
emptying enough when you go, unexplained weight loss, and
weakness or fatigue with no known cause (Mayo Clinic, 2019).
A large percentage of colorectal cancer develops from
preexisting adenomas. However, this does not mean that every
adenoma will become malignant. “The earliest phases of
colorectal tumourigenesis initiate in the normal mucosa, with a
generalized disorder of cell replication, and with the appearance
of clusters of enlarged crypts (aberrant crypts) showing
proliferative, biochemical and biomolecular abnormalities”
(Leon, P., Gregorio, D., 2001). MicroRNA are small, single-
stranded RNA that are noncoding and that can interfere with
translation within a cell or cause degradation of the target
miRNA. (Yamada, Nami, et al., 2013). More evidence is
pointing to the fact the miRNA plays an important role in
almost all of our biological processes. This includes
differentiation, proliferation, cell survival, and even cell death.
The dysregulation of miRNA expression can contribute to many
diseases, including colon cancer.
Since cancer can be hard to detect and can affect other organs
it is important for patients to get yearly screenings done,
especially patients with Lynch Syndrome. “Every organ affects
another organ” (Buttarro, Terry 2012). Symptoms may not
appear until the cancer has already metastasized to other organs.
Genetics can also play a crucial role in preventative screening
and blood work that is performed to check for certain types of
cancer, including colon cancer. If a provider knows a patient
has Lynch Syndrome they can make sure the patient is getting

3. the proper tests to be proactive in the fight against cancer.
References
Mayo Clinic (2018) Lynch syndrome
https://www.mayoclinic.org/diseases-conditions/lynch-
syndrome/symptoms-cause
s/syc-20374714
Dragovich, Tomislav (2019) Colon Cancer. Medscape
https://emedicine.medscape.com/article/277496-overview
Mayo Clinic (2019) Colon Cancer
https://www.mayoclinic.org/diseases-conditions/colon-
cancer/symptoms-causes/syc-20353669
Leon, P., Gregorio, D. (2001) Pathology of colorectal cancer.
Pubmed.gov
https://www.ncbi.nlm.nih.gov/pubmed/11432519
Yamada, N., Nakagawa, Y., Tsujimura, N., Kumazaki, M.,
Noguchi, S., Mori, T., Hirata, I.,
Maruo, K., Akao, Y., (2012) Role of intracellular and
extracellular mircro-RNA92 in
colorectal cancer.
PMC https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3730023/
Buttarro, Terry Laureate Education, Inc. (Executive Producer).
(2012d). Introduction to advanced pathophysiology. Baltimore,
MD
Bottom of Form
11 hours ago
Lorie Valentin
Initial Post Week 1: Valentin, Lorie
COLLAPSE

4. Top of Form
Initial Post Week 1
Scenerio
A 10-year-old male patient presents to your clinic with
a nose bleed that has been actively bleeding for more than two
hours. The patient states he was running around the corner of
his house and ran into his sibling and his nose began to bleed.
The bleeding is not profuse, but is a steady stream and has not
responded to applied pressure externally or to the application of
ice externally. The patient denies any internal attempts to stop
the flow of blood. Demographic information noted that the
patient lived at home with both parents and his two younger
sisters, had no previous medical history and neither parent had
any significant medical history. During additional questioning
about medical history, the patient’s parents reveals that the
patient has always been a “bleeder”. Upon further questioning
for clarification, they patient’s parents explains that the patient
has always bled more than his siblings even with the smallest of
injuries. After exam and further testing you find that the
patient has Hemophilia A. The patient’s parents are confused
and have many questions concerning how the patient developed
this disorder and why it was not discovered before.
Patient Factor
In this scenario the patient factor I chose to discuss is
gender. An individual’s gender can have many influences on
different disorders, specifically those caused by genetic factors.
Hemophilia is one of those disorders. Hemophilia is an X-linked
recessive trait disorder that affects males but not the female
carriers (Hammer & McPhee, 2019). In females, the X
chromosome received from the mother has the recessive allele
but the X chromosome from the father has a normal allele
essentially cancelling out the recessive trait (Huether &
McCance, 2017). Because males only have one X chromosome
and Y chromosomes do not carry a normal allele the males are
the ones affected by the recessive trait. The severity is related

5. to the exact amount of either factor VIII (type A) or factor IX
(type B) that an individual is lacking. Females have at least
50% of the required amount of either factor and therefore are
unaffected by the deficiency (Hammer & McPhee, 2019). This
disorder is also affected by the quantity of the factor available
in their bodies. Hemophilia is one of the disorders that is
labeled as a quantitative disorder, because the severity of the
disorder is related to the level of deficiency in each individual
rather than a complete lack of the factor (Hammer & McPhee,
2019). Most severe cases of either Hemophilia A or B are
diagnosed in the neonatal period, however less severe case may
take years to be diagnosed (Lee, Berntorp, Hoots, &
Tuddenham, 2014).
Pathophysiology
The pathophysiology of Hemophilia is related to the
lack of clotting factors needed to stop bleeding once it occurs.
Clotting factors are proteins that are found throughout the
vascular system in an inactive form. When there is damage to
vascular bodies bleeding occurs and the clotting factors are then
exposed to a substance called thromboplastin released by the
damaged tissue. This interaction of thromboplastin and the
clotting factors cause the formation of a clot occurs to block of
the damaged areas and prevent further loss of blood into the
surrounding tissue or out of the body depending on the nature of
the injury (Huether & McCance, 2017). When there is a
decrease or a lack of these clotting factors, the body is unable
to form clots that will prevent continued bleeding from injury.
For those suffering from Hemophilia, specifically the lack of
clotting factors VIII or IX are the causative factors.
Conclusion
In the scenario described above, the reason that the
child’s hemophilia was not detected prior to this injury was
related to several potential factors. The first factor is the
likelihood that the child had a very mild form of the disorder
related to the quantitative level of his factor VIII deficiency.
Second, because females are only carriers, unless he had male

6. relatives who had been previously diagnosed, there would be no
suspicion that this disease was a concern for this patient. A
thorough history in these cases can help point you in the right
directions for testing and eventual diagnosis.
References
Hammer, G. D., & McPhee, S. J. (2019). Pathophysiology of
disease: An introduction to clinical
medicine (8th ed.). New York, NY: McGraw-Hill Education
Huether, S. E., & McCance, K. L. (2017). Understanding
pathophysiology (6th ed.). St. Louis,
MO: Mosby
Lee, C. A., Berntorp, E., Hoots, K., & Tuddenham, G. D.
(2014). Textbook of hemophilia.
Chichester, England : Wiley-Blackwell, 2014. Retrieved from
https://search-ebscohost
com.ezp.waldenulibrary.org/login.aspx?direct=true&db=cat0642
3a&AN=wal.EBC1680
89&site=eds-live&scope=site