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Polyposis syndromes

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https://www.readbyqxmd.com/read/29771800/left-sided-dominance-of-early-onset-colorectal-cancers-a-rationale-for-screening-flexible-sigmoidoscopy-in-the-young
#1
Lior Segev, Matthew F Kalady, James M Church
BACKGROUND: National databases show a recent significant increase in the incidence of colorectal cancer in people younger than 50. With current recommendations to begin average-risk screening at age 50, these patients do not have the opportunity to be screened. We hypothesized that most of the cancers among the young would be left sided, which would create an opportunity for screening the young by flexible sigmoidoscopy. OBJECTIVE: This study aims to analyze the anatomic distribution of sporadic colorectal cancers in patients under the age of 50...
May 15, 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29770149/diffuse-gastric-ganglioneuromatosis-novel-presentation-of-pten-hamartoma-syndrome-case-report-and-review-of-gastric-ganglioneuromatous-proliferations-and-a-novel-pten-gene-mutation
#2
Alexander J Williams, Emily S Doherty, Michael H Hart, Douglas J Grider
Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Only six cases of gastric ganglioneuromatous proliferations have previously been reported, two in English and none were diffuse ganglioneuromatosis...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29766397/novel-variant-of-unknown-significance-in-mutyh-in-a-patient-with-mutyh-associated-polyposis-a-case-to-reclassify
#3
Trilokesh D Kidambi, Dena Goldberg, Robert Nussbaum, Amie Blanco, Sarah E Umetsu, Jonathan P Terdiman, Jeffrey K Lee
MUTYH-associated polyposis (MAP) is a hereditary cancer syndrome that is caused by biallelic pathogenic variants in the MUTYH gene and should be evaluated for in patients with an attenuated colonic polyposis phenotype. Monoallelic pathogenic variants in MUTYH are associated with a moderate increased risk of colorectal cancer but not with the polyposis phenotype. We present a case of a patient presenting with multiple colonic adenomatous polyps, whose germline testing revealed a heterozygous pathogenic variant in MUTYH in exon 13, c...
May 15, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29764007/anesthetic-considerations-during-surgical-intervention-in-woake-s-syndrome-a-case-report
#4
So Ron Choi, Jeong Ho Kim, Kyoung Lin Chae, Seung Cheol Lee, Sang Yoong Park
Woake's syndrome (WS) is a recurrent nasal polyposis, accompanied by broadening of the nose, frontal sinus aplasia, dyscrinia, and bronchiectasis. There has been no previous report on anesthetic management in patients with WS. We describe a case involving a 13-year-old male patient with WS who was scheduled for septorhinoplasty for necrotic ethmoiditis. Anesthesia was induced and maintained with propofol and remifentanil using a target-controlled infusion device. The anesthetic considerations of this rare syndrome and the advantages of an intravenous infusion method over local and volatile anesthesia for these patients are discussed...
May 15, 2018: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/29751773/an-unusual-finding-in-a-desmoid-type-fibromatosis-of-the-pancreas-a-case-report-and-review-of-the-literature
#5
Joseph Clarence Torres, Chen Xin
BACKGROUND: Desmoid-type fibromatoses are rare benign and fibrous tumors that account for approximately 0.03% of total neoplasms. Within this category of neoplasms, pancreatic desmoid-type fibromatosis is an extremely rare subgroup, accounting for approximately 5% of desmoid-type fibromatoses. Although the etiology is unknown, some risk factors include trauma, surgery, family history of desmoid tumor, pregnancy, use of contraceptives, genetic mutation, and familial adenomatous polyposis or Gardner syndrome...
May 12, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29746241/fe-s-clusters-and-muty-base-excision-repair-glycosylases-purification-kinetics-and-dna-affinity-measurements
#6
Nicole N Nuñez, Chandrima Majumdar, Kori T Lay, Sheila S David
A growing number of iron-sulfur (Fe-S) cluster cofactors have been identified in DNA repair proteins. MutY and its homologs are base excision repair (BER) glycosylases that prevent mutations associated with the common oxidation product of guanine (G), 8-oxo-7,8-dihydroguanine (OG) by catalyzing adenine (A) base excision from inappropriately formed OG:A mispairs. The finding of an [4Fe-4S]2+ cluster cofactor in MutY, Endonuclease III, and structurally similar BER enzymes was surprising and initially thought to represent an example of a purely structural role for the cofactor...
2018: Methods in Enzymology
https://www.readbyqxmd.com/read/29744602/current-clinical-topics-of-lynch-syndrome
#7
REVIEW
Kohji Tanakaya
Lynch syndrome (LS) is one of the most common genetic cancer syndromes, occurring at a rate of 1 per 250-1000 in the general population. This autosomal dominant disease is caused by a germline variant in one of the four mismatch repair genes, MSH2, MLH1, MSH6, PMS2, or the EPCAM gene. LS develops at early ages in colorectal cancer (CRC), endometrial cancer, and various other associated tumors. Accurate diagnosis of LS and utilization of various risk-reduction strategies such as surveillance, prophylactic surgery, and chemoprevention could improve clinical outcomes...
May 9, 2018: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29739761/long-lasting-remission-in-a-case-of-cronkhite-canada-syndrome
#8
Maria Pina Dore, Rosanna Satta, Alberto Murino, Giovanni Mario Pes
Cronkhite-Canada syndrome is a rare disease characterised by diffuse gastrointestinal polyposis, diarrhoea, weight loss, skin hyperpigmentation, onychodystrophy and alopecia. More than 500 cases have been described in the medical literature so far. The disease is probably caused by immune-mediated inflammatory mechanisms, and the diagnosis is based on clinical history, physical examination, endoscopic findings and histology. Differentiating this condition from other clinical entities presenting with similar signs and symptoms may be challenging...
May 8, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29739023/the-clinical-significance-and-synchronous-polyp-burden-of-large-%C3%A2-20-mm-sessile-serrated-polyps-in-patients-without-serrated-polyposis-syndrome
#9
Lobke Desomer, David J Tate, Mahesh Jayanna, Maria Pellise, Halim Awadie, Nicholas G Burgess, Duncan McLeod, Hema Mahajan, Eric Y T Lee, Stephen J Williams, Michael J Bourke
BACKGROUND:  Sessile serrated polyps (SSPs) are important precursors of colorectal carcinoma and interval cancer. Large SSPs (≥ 20 mm) outside the definition of serrated polyposis syndrome (SPS) have not been studied in comparison with SPS. We aimed to describe the characteristics of patients with large SSPs in this context. METHODS:  Patients with at least one SSP (≥ 20 mm) were eligible. Data from three consecutive colonoscopies were used to compare clinical and endoscopic characteristics in three patient groups: SPS, a solitary large SSP, and patients with at least two SSPs without fulfilling the criteria for SPS (oligo-SSP)...
May 8, 2018: Endoscopy
https://www.readbyqxmd.com/read/29720902/translational-research-in-familial-colorectal-cancer-syndromes
#10
REVIEW
Molly M Ford
Growing knowledge of inherited colorectal cancer syndromes has led to better surveillance and better care of this subset of patients. The most well-known entities, including Lynch syndrome and familial adenomatous polyposis, are continually being studied and with the advent of more sophisticated genetic testing, additional genetic discoveries have been made in the field of inherited cancer. This article will summarize many of the updates to both the familiar and perhaps less familiar syndromes that can lead to inherited or early-onset colorectal cancer...
May 2018: Clinics in Colon and Rectal Surgery
https://www.readbyqxmd.com/read/29720405/-smad4-dpc4
#11
REVIEW
Aoife J McCarthy, Runjan Chetty
Smad4 or DPC4 belongs to a family of signal transduction proteins that are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor beta (TGF-β) signaling via several pathways. The gene acts as a tumour suppressor gene and inactivation of smad4/DPC4 is best recognised in pancreatic cancer. However, smad4/DPC4 is also mutated in other conditions and cancers such as juvenile polyposis syndrome with and without hereditary haemorrhagic telangiectasia, colorectal and prostate cancers...
May 2, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29710228/immune-profiling-of-premalignant-lesions-in-patients-with-lynch-syndrome
#12
Kyle Chang, Melissa W Taggart, Laura Reyes-Uribe, Ester Borras, Erick Riquelme, Reagan M Barnett, Guido Leoni, F Anthony San Lucas, Maria T Catanese, Federica Mori, Maria G Diodoro, Y Nancy You, Ernest T Hawk, Jason Roszik, Paul Scheet, Scott Kopetz, Alfredo Nicosia, Elisa Scarselli, Patrick M Lynch, Florencia McAllister, Eduardo Vilar
Importance: Colorectal carcinomas in patients with Lynch syndrome (LS) arise in a background of mismatch repair (MMR) deficiency, display a unique immune profile with upregulation of immune checkpoints, and response to immunotherapy. However, there is still a gap in understanding the pathogenesis of MMR-deficient colorectal premalignant lesions, which is essential for the development of novel preventive strategies for LS. Objective: To characterize the immune profile of premalignant lesions from a cohort of patients with LS...
April 16, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29707409/juvenile-idiopathic-arthritis-associated-with-combined-jp-hht-syndrome-a-novel-phenotype-associated-with-a-novel-variant-in-smad4
#13
Juliet Chhay Bishop, Jacquelyn Francis Britton, Anne M Murphy, Sangeeta Sule, Sally Mitchell, Clifford Takemoto, Joseph M Collaco, Wikrom Karnsakul, Carmelo Cuffari, Edith Dietz, Joann Bodurtha
Juvenile polyposis (JP) syndrome is characterized by multiple hamartomatous polyps of the gastrointestinal tract. Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectasia in the skin, mucous membranes, and arteriovenous malformations in other organs. Individuals with JP-HHT syndrome have variable features of both rare disorders, attributed to heterozygous mutations in the SMAD4 gene. Systemic juvenile idiopathic arthritis (JIA) is a severe, chronic disease marked by arthritis and systemic inflammation for which the cause remains unknown...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29701437/-novelties-in-ent-2017
#14
Francis Marchal
Rhinology : balloon sinuplasty and its potential commercial links ; factors of recurrence of sinunasal polyposis ; olfactory dysfunction and biofilms. Otology : effect of music and headphones on children ; vaccination and otitis media. Pharyngo-laryngology : interest of DISE (Drug Induce Sleep Endoscopy) in case of Sleep Apnea Syndrome; adenotonsillectomy and interest of robotic surgery.Salivary glands : presence of Helicobacter pylori in buccal cavity ; pepsin testing in saliva in case of reflux ; antibacterial effect of xylitol ; interest of propolis in treating candidosis...
April 25, 2018: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29619395/sirolimus-in-refractory-cronkhite-canada-syndrome-and-focus-on-standard-treatment
#15
Catherine Langevin, Hugo Chapdelaine, Jean-Maxime Picard, Pierre Poitras, Raymond Leduc
Cronkhite-Canada syndrome is a rare syndrome consisting of extensive gastrointestinal polyposis and ectodermal changes including cutaneous hyperpigmentation, alopecia, and onychodystrophy. We report the case of a 45-year-old Caucasian male patient who failed multiple treatments over 2 years including steroids, azathioprine, adalimumab, and cyclosporine. He had recurrent and prolonged hospitalizations because of diarrhea, abdominal pain, weight loss, and malnutrition. Sirolimus was initiated with a significant clinical and endoscopic benefit apparent within, respectively, 2 and 8 weeks...
January 2018: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/29588840/device-assisted-enteroscopy-in-the-uk-description-of-a-large-tertiary-case-series-under-conscious-sedation
#16
Vijay Pattni, David J Tate, Ana Terlevich, Peter Marden, Steve Hughes
Objective: Device-assisted enteroscopy (DAE) has developed rapidly, particularly with the advent of double-balloon enteroscopy (DBE). This study reports a case series from a UK tertiary centre for DAE across two modalities-DBE and spiral enteroscopy (SE)-under conscious sedation. Design: Retrospective observational study of 257 enteroscopy procedures from 2008 to 2014. Data were collected on demographics, indications, diagnosis, sedation requirements, duration, complications, tolerance, therapy performed and completion rate...
April 2018: Frontline Gastroenterology
https://www.readbyqxmd.com/read/29564660/diagnostic-imaging-and-ceus-findings-in-a-rare-case-of-desmoid-type-fibromatosis-a-case-report
#17
REVIEW
Massimo Valentino, Mauro Liberatore, Fabrizio Maghella, Valeria De Soccio, Carlo De Felice, Daniela Messineo, Francesco Maria Drudi
Desmoid-type fibromatosis (DF), also known as aggressive fibromatosis, is a locally aggressive benign fibroblastic neoplasm that can infiltrate or recur but cannot metastasize. It is rare, with an estimated annual incidence of two to four new cases per million people. Most DFs occur sporadically, but it may also be associated with the hereditary syndrome familial adenomatous polyposis. Treatment is necessary when the disease is symptomatic, especially in case of compression of critical structures. When possible, surgical resection is the treatment of choice; however, recurrence is common...
March 21, 2018: Journal of Ultrasound
https://www.readbyqxmd.com/read/29560650/an-unusual-case-of-hamartomatous-polyposis-with-malignancy-complication-in-a-patient-with-ulcerative-colitis-treated-with-golimumab
#18
A Al Khoury, C-Y Chao, S Camilleri-Broet, T Bessissow
We report an unusual case of hamartomatous polyposis with malignant complications in a patient with ulcerative colitis on golimumab and previous thiopurine therapy. This patient was evaluated for iron deficiency anemia and underwent hemicolectomy for extensive right-side predominant inflammatory pseudopolyps. Anemia persisted post-colectomy and subsequent gastroscopy showed a fungating polypoid lesion along with numerous carpet-like strawberry appearing polyps in the stomach extending from the gastro-esophageal junction to the distal part of the antrum, necessitating a gastrectomy...
October 2017: Acta Gastro-enterologica Belgica
https://www.readbyqxmd.com/read/29556334/potential-red-flag-identification-of-colorectal-adenomas-with-wide-field-fluorescence-molecular-endoscopy
#19
Elmire Hartmans, Jolien J J Tjalma, Matthijs D Linssen, Pilar Beatriz Garcia Allende, Marjory Koller, Annelies Jorritsma-Smit, Mariana E Silva de Oliveira Nery, Sjoerd G Elias, Arend Karrenbeld, Elisabeth G E de Vries, Jan H Kleibeuker, Gooitzen M van Dam, Dominic J Robinson, Vasilis Ntziachristos, Wouter B Nagengast
Adenoma miss rates in colonoscopy are unacceptably high, especially for sessile serrated adenomas / polyps (SSA/Ps) and in high-risk populations, such as patients with Lynch syndrome. Detection rates may be improved by fluorescence molecular endoscopy (FME), which allows morphological visualization of lesions with high-definition white-light imaging as well as fluorescence-guided identification of lesions with a specific molecular marker. In a clinical proof-of-principal study, we investigated FME for colorectal adenoma detection, using a fluorescently labelled antibody (bevacizumab-800CW) against vascular endothelial growth factor A (VEGFA), which is highly upregulated in colorectal adenomas...
2018: Theranostics
https://www.readbyqxmd.com/read/29547683/prevalence-of-synchronous-oligopolyposis-in-incident-colorectal-cancer-a-population-based-study
#20
Juan M Marqués-Lespier, Marievelisse Soto-Salgado, María González-Pons, Vanessa Méndez, Katerina Freyre, Carlos Beltrán, Luis R Pericchi, Marcia Cruz-Correa
OBJECTIVE: Colorectal cancer (CRC) is a leading causes of cancer death among men and women. The purpose of this study was to determine the prevalence of oligopolyposis (≥20 synchronous colorectal adenomas) and its associated clinicopathological characteristics in Hispanics with incident CRC. METHODS: Pathology reports from individuals diagnosed with CRC (2007 to 2011) were obtained from the PR Central Cancer Registry. Colorectal polyp burden was calculated using pathology reports and the data was normalized to colon segment size...
2018: Puerto Rico Health Sciences Journal
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