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Polyposis syndromes

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https://www.readbyqxmd.com/read/28087410/repair-of-8-oxog-a-mismatches-by-the-mutyh-glycosylase-mechanism-metals-medicine
#1
REVIEW
Douglas M Banda, Nicole N Nuñez, Michael A Burnside, Katie M Bradshaw, Sheila S David
Reactive oxygen and nitrogen species (RONS) may infringe on the passing of pristine genetic information by inducing DNA inter- and intra-strand crosslinks, protein-DNA crosslinks, and chemical alterations to the sugar or base moieties of DNA. 8-Oxo-7,8-dihydroguanine (8-oxoG) is one of the most prevalent DNA lesions formed by RONS and is repaired through the base excision repair (BER) pathway involving the DNA repair glycosylases OGG1 and MUTYH in eukaryotes. MUTYH removes adenine (A) from 8-oxoG:A mispairs, thus mitigating the potential of G:C to T:A transversion mutations from occurring in the genome...
January 10, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28063287/clinical-practice-guidelines-for-the-use-of-video-capsule%C3%A2-endoscopy
#2
Robert A Enns, Lawrence Hookey, David Armstrong, Charles N Bernstein, Steven J Heitman, Christopher Teshima, Grigorios I Leontiadis, Frances Tse, Daniel Sadowski
BACKGROUND & AIMS: Video capsule endoscopy (CE) provides a noninvasive option to assess the small intestine, but its use with respect to endoscopic procedures and cross-sectional imaging varies widely. The aim of this consensus was to provide guidance on the appropriate use of CE in clinical practice. METHODS: A systematic literature search identified studies on the use of CE in patients with Crohn's disease, celiac disease, gastrointestinal bleeding, and anemia...
January 4, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28039328/outcome-of-24%C3%A2-years-national-surveillance-in-different-hereditary-colorectal-cancer-subgroups-leading-to-more-individualised-surveillance
#3
Lars Joachim Lindberg, Steen Ladelund, Birgitte Lidegaard Frederiksen, Lars Smith-Hansen, Inge Bernstein
BACKGROUND: Individuals with hereditary non-polyposis colorectal cancer (HNPCC) have a high risk of colorectal cancer (CRC). The benefits of colonic surveillance in Lynch syndrome and Amsterdam-positive (familial CRC type X familial colorectal cancer type X (FCCTX)) families are clear; only the interval between colonoscopies is debated. The potential benefits for families not fulfilling the Amsterdam criteria are uncertain. The aim of this study was to compare the outcome of colonic surveillance in different hereditary subgroups and to evaluate the surveillance programmes...
December 30, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28035305/gardner-syndrome-associated-with-multiple-osteomas-intestinal-polyposis-and-epidermoid-cysts
#4
Kwang-Joon Koh, Ha-Na Park, Kyoung-A Kim
Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body...
December 2016: Imaging Science in Dentistry
https://www.readbyqxmd.com/read/28029683/alopecia-areata-incognita-in-cronkhite-canada-syndrome
#5
S Ong, C Rodriguez-Garcia, S Grabczynska, J Carton, M Osborn, J Walters, F Kubba, C M Stefanato
Cronkhite-Canada syndrome is an acquired inflammatory polyposis syndrome in which alopecia, onychomadesis and hyperpigmentation occur concurrently with gastrointestinal symptoms. The pathophysiology of alopecia in Cronkhite-Canada Syndrome has not been definitively elucidated and we present evidence for alopecia incognita as a possible mechanism of hair loss. This article is protected by copyright. All rights reserved.
December 28, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28024986/the-natural-history-of-diminutive-and-small-colorectal-polyps-a-systematic-literature-review
#6
REVIEW
Jasper L A Vleugels, Yark Hazewinkel, Paul Fockens, Evelien Dekker
BACKGROUND: Diminutive (1-5 mm) and small (6-9 mm) polyps comprise 90% of detected lesions during colonoscopy and rarely contain advanced histology or colorectal cancer (CRC). Routine removal of these lesions results in a significant burden to colonoscopy programs. At the same time, the risk for progression of these polyps to CRC is unclear. We performed a systematic review to explore the natural history of diminutive and small colorectal polyps. METHODS: We searched MEDLINE and EMBASE for studies investigating the natural history of colorectal polyps...
December 23, 2016: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28013114/diffuse-esophageal-glycogenic-acanthosis-and-colon-polyposis-in-a-patient-with-cowden-syndrome
#7
Rohan M Modi, Christina A Arnold, Peter P Stanich
No abstract text is available yet for this article.
December 21, 2016: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28012326/a-case-report-of-desmoid-tumour-a-forgotten-aspect-of-fap
#8
Sarah Xuereb, Rachel Xuereb, Chiara Buhagiar, Jonathan Gauci, Claude Magri
INTRODUCTION: Desmoid tumours are locally aggressive tumours which are common in Familial Adenomatous Polyposis (FAP). PRESENTATION OF CASE: A 20-year old Familial Adenomatous Polyposis (FAP) patient presented with abdominal pain and distention. Abdominal imaging showed small bowel obstruction and hydronephrosis due to a pelvic mass. This mass showed significant enlargement on repeat imaging, and a diagnostic biopsy confirmed desmoid tumour. The mass was deemed unresectable and he was initially started on sulindac and raloxifene...
December 1, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27991685/massive-gastric-juvenile-type-polyposis-a-clinicopathologic-analysis-of-22-cases
#9
Raul S Gonzalez, Volkan Adsay, Rondell P Graham, Stuti G Shroff, Michael M Feely, Michael G Drage, David N Lewin, Eric A Swanson, Rhonda K Yantiss, Pelin Bağci, Alyssa M Krasinskas
AIMS: Massive gastric polyposis is a rare entity often associated with juvenile polyposis syndrome (JPS). We evaluated the clinicopathologic features of 22 patients with abundant gastric juvenile-type or hyperplastic-like polyps. METHODS AND RESULTS: The study included 12 males and 10 females with a median age of 48 years (range: 13-79). Fourteen (64%) patients carried a diagnosis of JPS, and three had prior gastrointestinal adenocarcinomas. Patients without known JPS presented at an older median age (60 versus 40 years; P=0...
December 19, 2016: Histopathology
https://www.readbyqxmd.com/read/27989630/-specificities-of-carcinomas-in-adolescents-and-young-adults
#10
REVIEW
Brice Fresneau, Marie-Emilie Dourthe, Anaïs Jouin, Valérie Laurence, Guénolée de Lambert, Christelle Colas, Mathilde Coret, Anne Laprie, Céleste Rebours, Daniel Orbach, Charlotte Demoor-Goldschmidt
Carcinomas are rare tumors of the adolescent-young adult (AYA) with a different spectrum from those of adults. The most common sites outside of the thyroid is the nasopharynx, salivary gland, colon-rectum and ovaries. If nasopharyngeal carcinoma or salivary gland tumors are good prognosis, others are more reserved prognosis, such as digestive carcinomas, gynecological or midline. The revelation modes are non-specific and depend on the location: mass, tumor syndrome, pain, impaired general condition. The unusual of pediatric carcinomas led to propose a systematic oncogenetic exploration...
December 15, 2016: Bulletin du Cancer
https://www.readbyqxmd.com/read/27984123/clinicopathologic-features-of-a-kindred-with-scg5-grem1-associated-hereditary-mixed-polyposis-syndrome
#11
Thomas Plesec, Kathryn Brown, Charles Allen, Carol Burke, James Church, Matthew Kalady, Lisa LaGuardia, Margaret O'Malley, Brandie Heald
Since first characterized in 1997, patients with hereditary mixed polyposis syndrome (HMPS) have been difficult to identify due to lack of well-established diagnostic criteria. Recently, HMPS was found to be caused by a duplication on chromosome 15 spanning the 3' end of the SCG5 gene and a region upstream of the GREM1 locus. Clinical testing for the duplication is available; however, the clinical characteristics of hereditary mixed polyposis to support testing are ill-defined. The clinicopathologic findings of ten HMPS patients with confirmed germline SCG5-GREM1 duplication were reviewed...
October 27, 2016: Human Pathology
https://www.readbyqxmd.com/read/27959889/childhood-neuroendocrine-tumours-a-descriptive-study-revealing-clues-for-genetic-predisposition
#12
I J Diets, I D Nagtegaal, J Loeffen, I de Blaauw, E Waanders, N Hoogerbrugge, M C J Jongmans
BACKGROUND: Neuroendocrine tumours (NETs) are rare in children and limited data are available. We aimed to specify tumour and patient characteristics and to investigate the role of genetic predisposition in the aetiology of paediatric NETs. METHODS: Using the Dutch Pathology Registry PALGA, we collected patient- and tumour data of paediatric NETs in the Netherlands between 1991 and 2013 (N=483). RESULTS: The incidence of paediatric NETs in the Netherlands is 5...
December 13, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27957667/clinical-cancer-genetics-disparities-among-latinos
#13
REVIEW
Marcia Cruz-Correa, Julyann Pérez-Mayoral, Julie Dutil, Miguel Echenique, Rafael Mosquera, Keila Rivera-Román, Sharee Umpierre, Segundo Rodriguez-Quilichini, Maria Gonzalez-Pons, Myrta I Olivera, Sherly Pardo
The three major hereditary cancer syndromes in Latinos (Hereditary Breast and Ovarian Cancer, Familial Adenomatous Polyposis and Lynch Syndrome) have been shown to exhibit geographic disparities by country of origin suggesting admixture-based disparities. A solid infrastructure of clinical genetics geared towards diagnosis and prevention could aid in reducing the mortality of these cancer syndromes in Latinos. Currently, clinical cancer genetic services in Latin America are scarce. Moreover, limited studies have investigated the mutational spectrum of these cancer syndromes in Latinos resulting in gaps in personalized medicine affecting diagnosis, treatment and prevention...
December 12, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27921062/long-qt-syndrome-and-duodenal-ampullary-adenoma-a-new-association
#14
F N U Asad-Ur-Rahman, Laura Hughes, Muhammad Talha Khan, Muhammad Khalid Hasan, Irteza Inayat
KCNQ1 gene mutation has a well-known association with long QT syndrome (LQTS). However, recent studies suggest that it may be implicated in intestinal neoplasia. We present a 27-year-old Hispanic man with a known history of LQTS secondary to KCNQ1 mutation, who presented with painless jaundice. Endoscopic retrograde pancreatic cholangiography revealed a prominent ampulla, with histology consistent with ampullary adenoma with high-grade dysplasia. Further endoscopic studies did not suggest familial adenomatous polyposis...
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/27920699/asymptomatic-multiple-lymphomatous-polyposis-identified-during-staging-bidirectional-endoscopy-of-mantle-cell-lymphoma
#15
Sonja P Dawsey, Jason A Gregory, Alexander W Brown, Frances J Jones
Multiple lymphomatous polyposis (MLP) as an extranodal manifestation of mantle cell lymphoma (MCL) in the gastrointestinal tract is rare and not often reported in the literature. We describe the case of a 63-year-old female with asymptomatic MLP found during staging bidirectional endoscopy of MCL. The patient presented only with dyspnea, but was found on physical exam to have diffuse lymphadenopathy, and subsequent positron emission tomography (PET) CT showed extensive lymph node adenopathy consistent with lymphoma...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27913912/genetic-counselor-practices-involving-pediatric-patients-with-fap-an-investigation-of-their-self-reported-strategies-for-genetic-testing-and-hepatoblastoma-screening
#16
Caitlin E Lawson, Thomas M Attard, Hongying Dai, Seth Septer
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma...
December 3, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#17
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27910069/lkb1-as-a-tumor-suppressor-in-uterine-cancer-mouse-models-and-translational-studies
#18
Christopher G Peña, Diego H Castrillón
The LKB1 tumor suppressor was identified in 1998 as the gene mutated in the Peutz-Jeghers Syndrome (PJS), a hereditary cancer predisposition characterized by gastrointestinal polyposis and a high incidence of cancers, particularly carcinomas, at a variety of anatomic sites including the gastrointestinal tract, lung, and female reproductive tract. Women with PJS have a high incidence of carcinomas of the uterine corpus (endometrium) and cervix. The LKB1 gene is also somatically mutated in human cancers arising at these sites...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27899913/steroid-responsive-mononeuritis-multiplex-in-the-cronkhite-canada-syndrome
#19
Y L Lo, K H Lim, X M Cheng, S Mesenas
The Cronkhite-Canada syndrome (CCS) is a rare disorder of unknown origin characterized by generalized gastrointestinal polyposis, alopecia, hyperpigmentation, and onychodystrophy. We report a case of CCS with concomitant presentation of mononeuritis multiplex. The electrophysiological findings and steroid responsiveness suggests presence of an autoimmune mechanism.
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27891260/intravenous-vitamin-c-administered-as-adjunctive-therapy-for-recurrent-acute-respiratory-distress-syndrome
#20
Amit Bharara, Catherine Grossman, Daniel Grinnan, Aamer Syed, Bernard Fisher, Christine DeWilde, Ramesh Natarajan, Alpha A Berry Fowler
This case report summarizes the first use of intravenous vitamin C employed as an adjunctive interventional agent in the therapy of recurrent acute respiratory distress syndrome (ARDS). The two episodes of ARDS occurred in a young female patient with Cronkhite-Canada syndrome, a rare, sporadically occurring, noninherited disorder that is characterized by extensive gastrointestinal polyposis and malabsorption. Prior to the episodes of sepsis, the patient was receiving nutrition via chronic hyperalimentation administered through a long-standing central venous catheter...
2016: Case Reports in Critical Care
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