Interesting Facts- v The probability of having polyposis varies from 1 out of 7,000 to 1 out of 22,000 v Polyposis is inherited through reproduction in an autosomal dominant pattern in the chromosomes of the offspring.
Works Cited
Wehbi, Mohammad, and John M. Carethers. “Familial Adenomatous Polyposis.” : Background, Pathophysiology, Epidemiology. N.p., 6 Mar. 2015. Web. 30 Mar. 2016.
Stavro, Steven Atanas. “Result Filters.” National Center for Biotechnology Information. U.S. National Library of Medicine, 24 Dec. 1993. Web. 30 Mar. 2016.
Scott, Steve. “What Is Familial Adenomatous Polyposis?” What is Familial Adenomatous Polyposis? N.p., 16 Nov. 2014. Web. 30 Mar.
2016.
Government. "Gardner's Syndrome (Familial
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Patients can receive surgery to prevent the continued development of colon cancer. However, they would still have to go to the doctors for regular medical follow-ups.
Outlook-
Despite this being a severe condition that could become life-threatening, it can be succesfully treated if taken care of early enough. Furthermore, this condition is hereditary meaning that anyone who shares a bloodline with those that have this condition are at risk of receiving it. It can be diagnosed by a simple blood test to see if the patient has the gene mutation. This mutation can not be self-acquired or in other words, it is inherited because it is a gene mutation
If a parent has FAP, then the child of that parent has a 50% chance of getting it as well. Those who have inherited the gene will evetually develope it and may pass it on to their childeren. Yet, those who don’t have a normal risk of getting it and will definitely not pass it on to their childeren. The beginning stages of FAP have no symptoms which is why it is crucial to get tested for it as soon as puberty begins. Places to go for more information-
Nelson, H., Walker, M., Zackher, B., & Mitchell, J. (n.d.). Result Filters. National center for biotechnology information. Retrieved February 9, 2014, from http://www.ncbi.nlm.nih.gov/pubmed?LinkName=pubmed_pubmed_pmh_cited&from_uid=15233153
...rrier. There are available tests you can take to determine the possibility of your children receiving the disease.
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
It only takes one abnormal gene for a child to have the disease for the rest of his or her life. The disease is a reoccurring cycle, and this rare blood disorder is rare to the minds that do not have the disease, and to the minds that have not studied the disease. Although there is no definite cure, a splenectomy will help maintain the disease. The million dollar question is “What is hereditary spherocytosis and is there a cure?” Hereditary spherocytosis is a disorder in the membrane of a red blood cell that causes the red blood cell to be shaped like spheres, instead of flat discs (Wint Carmella).
Schulman, Joshua M., and David E. Fisher. "Abstract." National Center for Biotechnology Information. U.S. National Library of Medicine, 28 Aug. 0005. Web. 24 Apr. 2014.
"Preimplantation Genetic Diagnosis: What Is PGD." Preimplantation Genetic Diagnosis: What Is PGD. Genoma Excellence in Genetic Testing, 2007. Web. 01 May 2014.
Colon cancer develops in the part of the gastrointestinal tract that absorbs water and minerals before waste products are disposed via the rectum. In women endometrial cancer is related to colon cancer. This type of cancer is the second leading cause of death due to cancer in the United States. Over one-hundred fifty thousand individuals will be diagnosed this year and this cancer will probably be responsible for about 47,900 deaths in 1999 (http://www.cancer.org). Most colon cancers are adenocarcinomas that develop from the glandular cells. Ninety percent of all colon cancer cases will develop in individuals after 50 years of age. Ninety percent of all tumors arise from polyps that are commonly found in people older than 50. Prevention includes regular exercise and a diet high in fiber. The most important risk factor is age. Medical screening includes a yearly blood occult test after age 50 and a colonoscopy every 3 years after age 50. Regular screening detects polyps that have become precancerous. If regular screening is not done, the cancer is not detected until blood is found in the...
...dern-day science has created many ways to diagnosis this syndrome, so many women who are affected go undiagnosed.
"Result Filters." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 25 Apr. 2014.
Segal, E. A., Cimino, A. N., Gerdes, K. E., Harmon, J. K., & Wagaman, M. (2013). A
A person is either a carrier of the defective CF gene, not a carrier of the CF gene, or will have cystic fibrosis. If a person has cystic fibrosis that means that the defective CF gene was received from each parent. If a person does not have two defective CF genes but does have one defective CF gene then he/she is a carrier of cystic fibrosis. There are more than seventy thousand people leaving with this disease worldwide, and most are diagnosed by the age of just two (“About Cystic Fibrosis,” n.d.). That is a very large population so as a nurse it is beneficial to know what this disease is and how and why it
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
GSD I is an inherited autosomal recessive disorder with the incidence being 1 in 100,000. Parents may be heterozygote carriers, making them asymptomatic, however they have a 25% chance of having a child that is affected by GSD I. Prenatal diagnosis can be made by completing a liver biopsy at 18-22 weeks but no fetal treatments are currently available and standard newborn screening tests are not able to detect GSD I.
"Adenosine - What Is Adenosine?" Adenosine - What Is Adenosine? N.p., n.d. Web. 09 Mar. 2014.