The adenomatous polyposis syndromes
The genetically defined adenomatous polyposis syndromes comprise familial adenomatous polyposis (FAP), MYH-associated polyposis (MAP) and the recently described condition polymerase proofreading-associated polyposis (PPAP). Clinically, theses syndromes have significant phenotypic overlap and can be challenging to distinguish.
Familial Adenomatous Polyposis (FAP)
Over 1000 different germline mutations in the tumor suppressor gene Adenomatous Polyposis Coli (APC) located on chromosome 5q21-q22 have been shown to cause FAP. FAP occurs in 1 in 10,000 individuals 1,2 . De novo mutation in APC have been described in approximately 25% of cases 3 .
Clinical presentation
Certain APC mutations have been associated with a profuse or classic form of the disease in which hundreds to thousands of polyps are observed throughout the colon in the pre-teen to mid-teenage years. This phenotype is associated with a 100% risk of CRC by the age of 39 years in the absence of prophylactic colectomy.Often mutations in exon 9 or the 5', or 3' region of the gene are associated with attenuated FAP (AFAP) which is characterized by a lower colorectal adenoma burden (< 100 polyps), which is predominant in the proximal colon, an onset in the late teenage years and a lower lifetime risk of CRC, 70% 4 .
Upper gastrointestinal tract polyposis is the most common extra-colonic manifestation of FAP. Fundic gland polyposis (FGP), with a mean of 30 fundic gland polyps, is reported in most patients with FAP. Fundic gland polyps in FAP are frequently associated with low grade foveolar dysplasia which do not require intervention5. Gastric cancer rarely has been reported to develop from fundic gland polyposis. Experts recommend...
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...The frequency of endoscopic surveillance depends on the stage of duodenal polyposis. Patients with stage IV duodenal polyposis should be referred to an experienced surgeon for consideration of a prophylactic, pylorus-preserving, pancreas sparing duodenectomy (PPPSD) 17 . Since the prevalence of small intestinal polyps increase with the degree of duodenal polyposis, some experts recommend a capsule endoscopy every 3 years for FAP patients stage III and IV and prior to undergoing duodenectomy 18 . Celecoxib at a dose of 400 mg orally twice daily induced regression of duodenal polyposis by blinded endoscopic video review in a 6-month placebo-controlled trial 19 . Patients who have undergone targeted resection of large or numerous adenomas in an attempt to downstage duodenal polyposis require surveillance at the interval warranted by their highest Spigelman stage.
FOP occurs randomly and is not inherited. Experts believe that one cause of fibrodysplasia ossificans progressiva is born with mutations in the ACVR gene what provides the body with instructio...
Acute pancreatitis following endoscopic retrograde cholangiopancreatography (ERCP) appears to be the most frequent major complication, occurring in 1-10% of patients overall, with a mortality rate ranging from 0.2-0.6% and an annual healthcare expenditure cost reaching $150 million in USA alone (1) (2). Several risk factors have been reported to play a role in ERCP-induced pancreatitis; some are patient-related (i.e. sphincter of Oddi dysfunction (SOD), female gender, history of pancreatitis, pancreatic acinar opacification), while others are procedure-related (i.e. precut or needle-knife endoscopic sphincterotomy, repeated pancreatic duct injection, difficult cannulation), and this may be useful in stratifying patients into low-risk or and high-risk categories (3).
...ozzi E, Biffoni M, Todaro M, Peschle C, et al. Identification and expansion of human colon-cancer-initiating cells. Nature. 2007;445(7123):111-5.
Nowadays, DNA is a crucial component of a crime scene investigation, used to both to identify perpetrators from crime scenes and to determine a suspect’s guilt or innocence (Butler, 2005). The method of constructing a distinctive “fingerprint” from an individual’s DNA was first described by Alec Jeffreys in 1985. He discovered regions of repetitions of nucleotides inherent in DNA strands that differed from person to person (now known as variable number of tandem repeats, or VNTRs), and developed a technique to adjust the length variation into a definitive identity marker (Butler, 2005). Since then, DNA fingerprinting has been refined to be an indispensible source of evidence, expanded into multiple methods befitting different types of DNA samples. One of the more controversial practices of DNA forensics is familial DNA searching, which takes partial, rather than exact, matches between crime scene DNA and DNA stored in a public database as possible leads for further examination and information about the suspect. Using familial DNA searching for investigative purposes is a reliable and advantageous method to convict criminals.
Colorectal cancer, or CRC, affects African American men and women more than Caucasians, at a rate 20% higher. This is concerning when faced with the mortality rates among African Americans, 28% higher for women and 14% higher for men than for Whites. African Americans are also more likely to be in later stages of the disease when diagnosed. There is a need to study and evaluate why these factors exist, as proper screening and early diagnosis can severely impact survival rates for CRC. One study attempts to find the solution through testing, however, this study slightly discredits itself along the way.
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Colon cancer is the third most common cancer in men and women, responsible for more than 57,000 deaths in 2001 alone. Colon polyps, which can lead to colon cancer, are found in about 30-40% of people aged 60 or older- and the risks of polyps increase with age” (Lerche Davis, 2003). Most cases of colon cancer start as small adenomatous polyps. Many people experience no signs or symptoms in the early stages of colon cancer. Some signs and symptoms can include diarrhea, constipation, or any change in consistency of your stool that continues for longer than a month. Any bleeding from the rectum or blood found in the stool can also be a sign of colon cancer. Continuing abdominal pain, cramps, gas, weakness, fatigue and unexplained weight loss could all be signs of rectal cancer in the patient (Staff,
A genetic family history assessment contains information about family structure and relationships. A typical nurse will use a three-generation family pedigree to gather the information. By doing so, nurses can be aware of which family members are at risk for disorders from a genetic component. Therefore, they can be provided with lifestyle advice, recommendations, and referrals to appropriate specialists (Kaakinen, Coehlo, Steele, Tabacco & Hanson, 2015). A genetic family history assessment will be provided about my family.
Recurrent esophageal stricture. Patient with personal history of stage I adenocarcinoma of the esophagus in the setting of Barrett's esophagus, diagnosed elsewhere. He has a history of a distal esophagectomy with a gastroesophageal reanastomosis performed at or near 09/2016. The patient at one point, had a tracheostomy which has been removed. At one point, a feeding jejunostomy tube that has been removed. He has recurrent dysphagia and previous endoscopic dilatation. He presents today for a repeat endoscopy with probable dilatation of the EG junction.
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...
In today’s world, people are learning a great deal in the rapidly growing and developing fields of science and technology. Almost each day, an individual can see or hear about new discoveries and advances in these fields of study. One science that is rapidly progressing is genetic testing; a valuable science that promotes prevention efforts for genetically susceptible people and provides new strategies for disease management. Unnaturally, and morally wrong, genetic testing is a controversial science that manipulates human ethics. Although genetic testing has enormous advantages, the uncertainties of genetic testing will depreciate our quality of life, and thereby result in psychological burden, discrimination, and abortion.
Everyone is born with certain genetic mutations that make the them more likely to develop cancer in a later time in life. Though they might have a genetic feature, cancer will not develop unless triggered by environmental factors such as air and water pollution. As a matter of fact, my grandfather started smoking alongside consuming heavy amounts of alcohol around the age of 15, smoking and heavy alcohol intake have been considered as one of the potential causes of colon
Most diseases are caused by a type of genetic component. Many of the diseases that have been caused by gene mutations are undiagnosed. These remain undiagnosed because the disease is so rare that the doctor does not know how to diagnose the patient. Many sy...
Genetic testing is a type of medical test that identifies the changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a genetic condition and if it can be passed on. I feel that genetic testing’s pros outweigh the cons. The physical risks of the genetic testing are very small. A positive result of genetic testing can help a person maintain prevention, and treatment options. Some test results can also help people make decisions about having children. Newborn genetic screenings can help identify genetic disorders early in life so treatment can be started as early as possible so that the unwanted gene will not pass on.