Gardner Syndrome Case Study
SUMMARY A 64 year old male who presented with bleeding per rectum and altered bowel habits of 6 month duration was found to have numerous polyps in the colon with colonoscopy. He also had two osteomas on the forehead and several epidermal cysts in the scrotal skin. His brother had a history suggestive of a similar disease. The patient underwent total proctocolectomy and ileal pouch – anal anastomosis. Pathological examination of the resected specimen revealed a moderately differentiated adenocarcinoma in addition to numerous polyps which were villous, tubulo-villous and tubular adenomata with low grade dysplasia. There were oligocryptal and flat adenomata as well. The patient was diagnosed to have colonic adenocarcinoma complicating Gardner …show more content…
Gardner and his colleague.1 This syndrome is characterized by presence of numerous intestinal polyposis (more than hundred) as well as gastric and duodenal polyposis and is associated with extraintestinal manifestations of bone and soft-tissue such as osteomas, desmoid fibromatosis, lipomas and epidermal cysts.2 Gardner syndrome is regarded as a clinical subgroup of familial adenomatous polyposis (FAP) and is caused by truncating mutations of the APC gene, which is a tumour suppressor gene. This gene has been localized to a small region on the long arm of chromosome 5 (5q21-22), and this region is referred to as the adenomatous polyposis coli locus. 11 Diagnostic criteria that are established by World Health Organization for FAP include, 1. Hundred or more colorectal …show more content…
The most effective method for demonstrating mutated APC gene in relatives of patients with FAP syndrome is genetic testing.15 CASE REPORT History A 64-year-old previously apparently healthy male presented with fresh painless bleeding per rectum which was mixed with stools and intermittent in nature. It was associated with altered bowel habits characterized by increased frequency with a sense of incomplete evacuation, loss of appetite and loss of weight for the last 6 months. He did not have abdominal pain, vomiting or melena. The patient had hypertension and the past surgical history was unremarkable. His family history revealed that his brother had a similar disease and had undergone a bowel surgery in his fifties. No other immediate family members had a history of malignancy or features of bowel disease. He was an ex-smoker and has consumed alcohol in the past. He used to be a farmer, now living in a temple.
Burning Secsation Case Study
57 Words | 1 PagesThis is a 25 year old African American male who is here because he is experiencing burning secsation with urination, and irritation at the penus. Patient is also requesting stuture removed form his right hand. difficulty with Patient denies chest pain, SOB, N/V/D, or fever. Patient denies depressive moods, thoughts of suicide or homicide. current pain
Court Cases: The Murder Of Daniel Stott
2094 Words | 9 PagesThe clue thus accidentally obtained has been followed up by months of patient investigation, and has been thoroughly sifted. Today we lay before the world a story
To Kill A Mockingbird Case Summary
897 Words | 4 PagesCC Mrs. Newcomb is a 51-year-old female here today complaining of abdominal pain. HPI The patient tells me that she has trouble with abdominal pain on and off for several years. She, a little more than a year ago, went through an extensive evaluation with William E. Maher, MD in gastroenterology for abdominal pain and ultimately was told that this was likely IBS.
Research Paper On Cystic Fibrosis
948 Words | 4 PagesDiscovered in 1989, Cystic Fibrosis is the most common, fatal genetic disease in the United States. Statistics show that 30,000 people in the US have been named with this disease. (Genome) Cystic Fibrosis is a disease caused when the CFTR (Cystic Fibrosis Transmembrane Regulator) is defective and the cells do not release the right amount of chloride. This causes for the body to produce thick, sticky mucus that clogs up the lungs, leads to infection, blocks the pancreas, which stops the digestive enzymes from reaching the intestine. Symptoms require; salty tasting skin, wheezing, shortness of breath, persistent coughing, poor growth or weight gain, frequent/bulky stool, and male infertility.
Crohn's Disease
620 Words | 3 PagesBeing that genetics plays a big role in the effects on Crohn’s disease, this condition tends to cluster in families which causes increased risk factors. Often
The Monkey Pinscher: Monkey Terrier
2259 Words | 10 PagesThe condition is suspected to be inherited as an autosomal recessive trait with incomplete penetrance.
Crohn's Disease: A Case Study
342 Words | 2 PagesCrohns disease is believed to have some genetic tendency, as well as long-term inflammation of the gut (Risk Factors, n.d). However, S was unsure about any GI history in his family. He did say that his mother had many of the symptoms that he was experiencing. He describe his mother as very private and so nothing of her illness was ever shared or discussed in his family.
Neimann Pick Disease Research Paper
431 Words | 2 PagesNeimann Pick Disease Type C1 What is Neimann Pick Disease Type C1 and how is it Diagnosed? Neimann Pick Disease Type C1(NPC1) is a rare lipid shortage disorder that can be diagnosed at any point in the individual’s life time(2). It can be passed on recessively from the parent to their offspring.
Peutz Jeigher's Syndrome Essay
924 Words | 4 PagesPeutz-Jeghers Syndrome is described by a Dutch physician named Jan Peutz back in 1921. Jan Peutz noted signs in a Dutch family appearing with intestinal polyps and also had noticed mucocutaneous macules. John McHutchinson, a man who reported signs in the year of 1896, had a case involving a pair of twins that was identical with an ending result leaving one twin that died. An American physician, Harold Jeghers, had published a statement with a definite descriptions of this syndrome. Shortly after that statement got published, it then became introduced as Peutz-Jeghers Syndrome by Andre J. Bruwer.
Hodgkin's Lymphoma Research Paper
327 Words | 2 PagesIt was discovered in 1956 by a British surgeon named Denis Burkitt, who wrote about it after analyzing afflicted children in Africa. It usually involves a vigorously expanding tumor in the abdomen. Burkitt’s lymphoma is an uncommon and an aggressive form of non-Hodgkin’s lymphoma with its own categories, symptoms, risk factors, causes, diagnosis, and
Noonan Syndrome Characteristics
1489 Words | 6 PagesThe mutation which causes the syndrome was found in the “RAS-Mitogen-Activated Protein Kinase (RAS-MAPK),” (Pierpont, Tworog-Dube, & Roberts,
Proposal: A Family History Of Colon Cancer
298 Words | 2 PagesIf my 50 year old friend was to inquire about a colonoscopy at a facility where I am the administrator, I would first encourage my friend as she has made a wise decision to undergo a colonoscopy. The American Cancer Society has advised that colon cancer is preventable with regular screening. Polyps can be detected early and removed before they have a chance to turn cancerous. It is estimated that it takes a polyp about 10 years to become cancerous. The Center for Disease Control (CDC) recommends colorectal cancer screening beginning at age 50.
Nursing Reflection In Nursing
1793 Words | 8 PagesThroughout this reflection my patient will be given anonymity using a false name to protect her identity and respect her confidentiality, she will be referred to as Mrs Glover (NMC Code, 2015). Mrs Glover is a young female of 26, who recently had bowel surgery, which has resulted in a stoma site being formed. When she returns home, she will be required to change her stoma bag every time it is three-quarters full
Colorectal Screening: A Case Study
409 Words | 2 Pages"Overall, the lifetime risk for developing colorectal cancer is about 1 in 20 (5%)." (Cancer.org, 2014). That in itself is an impressive statistic that is little known to the population. In the health care field a constant is that a disease is easier to treat when early detection is noted.
More about Gardner Syndrome Case Study
Burning Secsation Case Study
57 Words | 1 PagesCourt Cases: The Murder Of Daniel Stott
2094 Words | 9 PagesLou Gehrig Essay
1054 Words | 5 PagesTo Kill A Mockingbird Case Summary
897 Words | 4 PagesResearch Paper On Cystic Fibrosis
948 Words | 4 PagesCrohn's Disease
620 Words | 3 PagesThe Monkey Pinscher: Monkey Terrier
2259 Words | 10 PagesCrohn's Disease: A Case Study
342 Words | 2 PagesNeimann Pick Disease Research Paper
431 Words | 2 PagesPeutz Jeigher's Syndrome Essay
924 Words | 4 PagesHodgkin's Lymphoma Research Paper
327 Words | 2 PagesNoonan Syndrome Characteristics
1489 Words | 6 PagesProposal: A Family History Of Colon Cancer
298 Words | 2 PagesNursing Reflection In Nursing
1793 Words | 8 PagesColorectal Screening: A Case Study
409 Words | 2 Pages