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Pilomatrixomas are benign follicular tumors that occur most commonly in children. Rare multiple or familial pilomatrixomas have been associated with myotonic dystrophy and other disorders. Although sporadic pilomatrixomas and hybrid cutaneous cysts with pilomatrixoma-like features have been observed in some kindreds with Gardner syndrome, an autosomal dominant form of familial adenomatous polyposis, no definitive association has been made with mu...

Abstract A 29-year-old female visited a hospital because of increasingly severe lower leg edema. She was diagnosed as having multiple polyps in the stomach and colon by gastroscopy and sigmoidoscopy as well as multiple liver tumors by abdominal CT. She was referred to our hospital for further examination. Total colonoscopy revealed a type 2 tumor in the transverse colon and more than 200 polyps distributed throughout the colorectum. Biopsies o...

BACKGROUND: Duodenal polyposis is a manifestation of adenomatous polyposis that predisposes to duodenal or ampullary adenocarcinoma. Duodenal polyposis is monitored by upper GI endoscopies and may require iterative resections and prophylactic radical surgical treatment when malignancy is threatening. OBJECTIVE: The purpose of this study was to evaluate severity scoring for surveillance and treatment in a large series of duodenal polyposis....

Abstract To identify gene expression biomarkers and pathways targeted by sulindac and erlotinib given in a chemoprevention trial with a significant decrease in duodenal polyp burden at 6 months (P < 0.001) in familial adenomatous polyposis (FAP) patients, we biopsied normal and polyp duodenal tissues from patients on drug versus placebo and analyzed the RNA expression. RNA sequencing was performed on biopsies from the duodenum of FAP patients...

BACKGROUND: Exocrine pancreatic insufficiency (EPI) is characterized by a deficiency of exocrine pancreatic enzymes, resulting in malabsorption. Numerous conditions account for the etiology of EPI, with the most common being diseases of the pancreatic parenchyma including chronic pancreatitis, cystic fibrosis, and a history of extensive necrotizing acute pancreatitis. Treatment for EPI includes dietary management, lifest...

Objective The benefits of pancreatic enzyme replacement therapy (PERT) in chronic pancreatitis (CP) are inadequately defined. We have undertaken a systematic review and meta-analysis of randomised controlled trials of PERT to determine the efficacy of PERT in exocrine pancreatic insufficiency (EPI) from CP. De...

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Eat 6 to 8 small meals a day Eating small, frequent meals will put less stress on your shortened bowel. Small meals help control your symptoms, and will result in better digestion and absorption. Eat slowly and chew your food well. Once your bowel has adapted, you can resume having 3 meals a day.

This guide provides some basic information about the effects ostomy surgery has on digestion and food absorption. After healing is complete and the ostomy is functioning normally, most people with ostomies can return to a normal diet. If you have a special diet because of heart disease, diabetes or other health problems, you should ask your doctor about a diet that will work with both that problem and your ostomy.

This clinical practice guideline is based on the collaborative efforts of the Belgian Health Care Knowledge Centre (KCE), the College of Human Genetics and the College of Oncology. This guideline complements the recently published practice guideline for colorectal cancer and is a first report in a short series of oncogenetic testing guidelines.

People who have a genetic diagnosis of familial adenomatous polyposis (FAP), or are at risk of having FAP but genetic testing has not been performed or is not feasible, should have annual sigmoidoscopy, beginning at age 10 to 12 years, to determine if they are expressing the genetic abnormality. Genetic testing should be considered in patients with FAP who have relatives at risk. Genetic counseling should guide genetic testing and considerations...

The purpose of this report is to provide an evidence-based summary of current New Zealand and overseas evidence to inform best practice in providing colonoscopic surveillance for people who are at increased risk of developing colorectal cancer. Improving early detection and diagnosis of cancer, and improving access to timely and appropriate treatment are identified as goals of the New Zealand Cancer Control Strategy Action Plan 2005–2010.1

The New Brunswick Cancer Network (NBCN) recognizes the importance of prevention and screening in reducing the burden of cancer for New Brunswickers. Historically, colon cancer screening in the province has been done in an opportunistic fashion, driven primarily by the relationship between patients and their primary care providers. Subsequent to the announcement in 2009 to establish a provincial Colon Cancer Screening Program (CCSP) for New Bruns...

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Maybe you take care of your spouse, who’s in the early stages of Alzheimer’s. Or you’ve been tending to the needs of your mother since she was diagnosed with cancer. Perhaps your child was born with a lifelong condition requiring specialized care. Whatever the circumstances, family caregivers tend to have at least one thing in common: They forget to take care of themselves. While caring for those you love is important, and can be meaningful...

These general caregiving tips provide families with information on how to stay healthy and positive. Keep in mind that these tips can be used to address many family issues. Information, support, advocacy, empowerment, care, and balance can be the foundation for a healthy family and are appropriate no matter what the challenge. Be Informed – Gather information about your family member’s condition, and discuss issues with others involved in...

Genetic testing looks for specific inherited changes (mutations) in a person’s chromosomes, genes, or proteins. Genetic mutations can have harmful, beneficial, neutral (no effect), or uncertain effects on health. Mutations that are harmful may increase a person’s chance, or risk, of developing a disease such as cancer. Overall, inherited mutations are thought to play a role in about 5 to 10 percent of all cancers. Cancer can sometimes appe...

With many rare diseases there is often an underlying genetic cause. There is a whole field dedicated to helping patients and families navigate and investigate potential genetic causes of disease; it is called genetic counseling. This page serves as introduction to this field, the medical professionals who provide genetic counseling services, and genetic disease itself. If at the end you find yourself interested in joining the field, we’ve include...

If you have chronic pancreatitis, a pancreatic neuroendocrine tumour (PNET), had surgery for other cancer types or have had some of your pancreas removed, your pancreas may not produce enough enzymes to digest your food. As a result you may not be able to absorb the food you eat very well. This is called malabsorption. To help you absorb food properly again you will need to take replacement pancreatic enzymes. We treat malabsorption by replaci...

To be completely honest, I have no idea how to introduce myself or the disorders and conditions I deal with on a day to day basis. It can be challenging for anyone, myself included, regardless of the condition, disorder, or disease, to primarily categorize themselves upon first introduction. Do I say, “I suffer from…” or “I have to deal with…” or even something sassy to illicit a laugh when explaining a potentially life-threatening...

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The growth of online communities in particular is revolutionizing the way that PAC live with their disease, receive trusted information, and meaningfully share their experiences.   The advantages of an online rare disease community can extend well beyond serving as a web-based discussion forum and a source for relevant, trustworthy, up-to-date information. A successful online rare disease community can a...

Poster Presentation Objective: This study aims to examine colonic polyp phenotype, the surgical outcomes, and the reasons for colectomy in individuals with attenuated familial adenomatous polyposis (AFAP). Methods: Colonoscopy and colectomy medical records were obtained for 197 individuals with a known genetic mutation in the region of the APC gene causative of AFAP. Results: The number o...

Poster Presentation Familial Adenomatous Polyposis Syndrome (FAP) is an autosomal dominant inherited hereditary colorectal cancer syndrome that is characterized by hundreds to thousands of adenomatous colonic polyps and, without treatment and close surveillance, confers a high lifetime risk of colon cancer. Polyps usually develop in adolescence and virtually all will develo...

Poster Presentation Background: Mutations in the APC gene lead to Familial adenomatous polyposis (FAP) and an attenuated form of this condition (AFAP). Based on previous work with mutation-verified patients from a large AFAP kindred, we showed that AFAP patients may be under-diagnosed, in the absence of a genetic diagnosis. For example, for patients between 30 and 79 years of age, 28% had fewer than 10 adenomas; 22% ha...

Poster Presentation Background: MUTYH-associated polyposis (MAP) is an autosomal recessive disorder that is caused by germline mutations in the base excision repair gene MUTYH. Phenotypic expression is usually that of an attenuated polyposis syndrome with anywhere from 3-100+ polyps and mixed pathology including tubular adenomas, sessile serrated adenomas, and/or hyperplastic polyps. The use of non-steroidal anti-inflammatory...

Poster Presentation Background: Patients with familial adenomatous polyposis (FAP) are perceived to be at increased risk for developing thyroid cancer. However, screening guidelines for thyroid cancer in FAP patients are not well established. To report the prevalence of thyroid cancer and benign thyroid disease in FAP patients in a single-center hereditary colorectal cancer registry. Methods: A ret...

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Familial Adenomatous Polyposis (FAP) is a rare, highly penetrant, genetic cancer predisposition syndrome typically requiring prophylactic removal of the colon. This study is an early look at the specific impact of FAP in the dynamic period of life between the ages of 18 to 25 termed “emerging adulthood.” Participants recruited through the Hereditary Colon Cancer Foundation were asked to complete an online survey designed to collect both quant...

The distinction between benign and malignant tumors is classically based on the metastatic potential of a tumor type. While desmoid tumors do not metastasize and as such are classified as benign lesions, their clinical behavior, cellular biology, and molecular etiology all share more characteristics with malignancies than benign processes. Research into these aspects of desmoid tumor biology has the potential not only to develop better treatments...

Inflammatory bowel disease (IBD) and familial adenomatous polyposis (FAP) are complex diseases, which are subject to numerous medical researches. Despite increased knowledge on the pathophysiological process, many aspects remain rather unclear, especially concerning IBD. The genetic basis of FAP is well known, but there is still debate about IBD, which seems.

The adenomatous polyposis coli (APC) gene is mutated in the germline of patients with hereditary disease familial adenomatous polyposis (FAP) and also been implicated in the pathogenesis of sporadic colorectal cancers. The APC gene in FAP provides a reasonable candidate for a preventive gene therapy strategy, since APC mutations appear to be fundamental to the early stages of all types of colorectal carcinogenesis, whether familial or sporadic....

Thirty-eight published papers, co-authored by Allan D. Spigelman, 1989-1994, covering these subjects: adenoma, familial diseases, intestinal polyps

A 20-page book with illustrations

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