keyword
MENU ▼
Read by QxMD icon Read
search

Polyposis syndromes

keyword
https://www.readbyqxmd.com/read/28429649/fundic-gland-polyps-in-the-pediatric-population
#1
Amy Coffey, Kalyani Patel, Norma Quintanilla, Richard Kellermayer, Hao Wu
We retrospectively studied the clinical and histologic features of pediatric fundic gland polyps (FGPs) in 16 patients. FGPs had an endoscopic prevalence of 0.25% in 8527 pediatric gastric biopsies. Five patients had familial adenomatous polyposis (FAP). The median age of onset was 17.7 years in FAP and 17.3 years in sporadic patients. All syndromic patients were asymptomatic and FGPs were identified during surveillance for existing or concurrent colon polyps. They did not take antacids. In comparison, all 11 sporadic FGPs were identified during evaluation of symptomatic patients who had taken antacids (median duration 21 months)...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28428902/nonfamilial-juvenile-polyposis-syndrome-with-exon-5-novel-mutation-in-smad-4-gene
#2
Amna Ahmed, Badr Alsaleem
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28400194/increased-risk-of-colorectal-cancer-in-patients-with-multiple-serrated-polyps-and-their-first-degree-relatives
#3
Cecilia Egoavil, Miriam Juarez, Carla Guarinos, María Rodríguez-Soler, Eva Hernández-Illán, Cristina Alenda, Artemio Payá, Adela Castillejo, Anna Serradesanferm, Luis Bujanda, Fernando Fernández-Bañares, Joaquín Cubiella, Luisa de-Castro, Ana Guerra, Elena Aguirre, Alberto Herreros-de-Tejada, Xavier Bessa, Maite Herráiz, José-Carlos Marín-Gabriel, Judith Balmaña, Virginia Piñol, Miriam Cuatrecasas, Francesc Balaguer, Antoni Castells, José-Luis Soto, Pedro Zapater, Rodrigo Jover
BACKGROUND & AIMS: We investigated whether patients with multiple serrated polyps, but not meeting the World Health Organization criteria for serrated polyposis syndrome, and their relatives have similar risks for colorectal cancer (CRC) as those diagnosed with serrated polyposis. METHODS: We collected data from patients with more than 10 colonic polyps, recruited in 2008-2009 from 24 hospitals in Spain for a study of causes of multiple colonic polyps. We analyzed data from 53 patients who met the criteria for serrated polyposis and 145 patients who did not meet these criteria, but who had more than 10 polyps throughout the colon, of which more than 50% were serrated...
April 8, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28399346/tumors-and-related-lesions-of-the-pigmented-epithelium
#4
Jerry A Shields, Carol L Shields
Several tumors and pseudotumors can arise from the iris pigment epithelium (IPE), ciliary pigment epithelium (CPE), and retinal pigment epithelium (RPE), including cysts of the IPE, solitary congenital hypertrophy of the RPE (CHRPE), multifocal CHRPE ("bear tracks"), congenital simple hamartoma of the RPE, combined hamartoma of the retina and RPE, and acquired epithelioma of IPE, CPE, and RPE. This article describes examples of pigment epithelial tumors and pseudotumors by reviewing the literature and cases on file in the Oncology Service at Wills Eye Hospital...
March 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28391433/a-peutz-jeghers-syndrome-family-associated-with-sinonasal-adenocarcinoma-28-years-follow-up-report
#5
Jy-Ming Chiang, Tse-Ching Chen
Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder characterized by hamartomatous polyps in both of the gastrointestinal tract and mucosal pigmentation. It could increase in risk of intestinal and extra-intestinal neoplasms. We here described three cases of sinonasal polyposis in a PJS family and two developed sinonasal type adenocarcinoma. Genetic study revealed a germline STK11/LKB1 mutation on codon 179 (c.C536G, p.P179R) of exon 4. LOH analysis of the LKB1 locus confirms this to be a deleterious mutation...
April 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28373404/precancer-atlas-to-drive-precision-prevention-trials
#6
Avrum Spira, Matthew B Yurgelun, Ludmil Alexandrov, Anjana Rao, Rafael Bejar, Kornelia Polyak, Marios Giannakis, Ali Shilatifard, Olivera J Finn, Madhav Dhodapkar, Neil E Kay, Esteban Braggio, Eduardo Vilar, Sarah A Mazzilli, Timothy R Rebbeck, Judy E Garber, Victor E Velculescu, Mary L Disis, Douglas C Wallace, Scott M Lippman
Cancer development is a complex process driven by inherited and acquired molecular and cellular alterations. Prevention is the holy grail of cancer elimination, but making this a reality will take a fundamental rethinking and deep understanding of premalignant biology. In this Perspective, we propose a national concerted effort to create a Precancer Atlas (PCA), integrating multi-omics and immunity - basic tenets of the neoplastic process. The biology of neoplasia caused by germline mutations has led to paradigm-changing precision prevention efforts, including: tumor testing for mismatch repair (MMR) deficiency in Lynch syndrome establishing a new paradigm, combinatorial chemoprevention efficacy in familial adenomatous polyposis (FAP), signal of benefit from imaging-based early detection research in high-germline risk for pancreatic neoplasia, elucidating early ontogeny in BRCA1-mutation carriers leading to an international breast cancer prevention trial, and insights into the intricate germline-somatic-immunity interaction landscape...
April 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/28365877/elucidating-the-clinical-significance-of-two-pms2-missense-variants-coexisting-in-a-family-fulfilling-hereditary-cancer-criteria
#7
Maribel González-Acosta, Jesús Del Valle, Matilde Navarro, Bryony A Thompson, Sílvia Iglesias, Xavier Sanjuan, María José Paúles, Natàlia Padilla, Anna Fernández, Raquel Cuesta, Àlex Teulé, Guido Plotz, Juan Cadiñanos, Xavier de la Cruz, Francesc Balaguer, Conxi Lázaro, Marta Pineda, Gabriel Capellá
The clinical spectrum of germline mismatch repair (MMR) gene variants continues increasing, encompassing Lynch syndrome, Constitutional MMR Deficiency (CMMRD), and the recently reported MSH3-associated polyposis. Genetic diagnosis of these hereditary cancer syndromes is often hampered by the presence of variants of unknown significance (VUS) and overlapping phenotypes. Two PMS2 VUS, c.2149G>A (p.V717M) and c.2444C>T (p.S815L), were identified in trans in one individual diagnosed with early-onset colorectal cancer (CRC) who belonged to a family fulfilling clinical criteria for hereditary cancer...
April 1, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28352323/correlation-between-genotype-and-phenotype-in-three-families-with-peutz-jeghers-syndrome
#8
Yanli Zhang, Yao Ke, Xueni Zheng, Qing Liu, Xiaohong Duan
Peutz-Jeghers syndrome (PJS) is a hereditary disorder characterized by mucocutaneous pigmentations, gastrointestinal (GI) polyposis and an increased risk of certain malignancies. Little is known about the causative genes of PJS, or their association with the clinical phenotypes of PJS. The present study reports the results of clinical and genetic analysis of three Chinese families with PJS. In addition, the medical histories and clinical manifestations of these families were compared. DNA was collected from the blood samples of patients with PJS and controls...
February 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28341823/a-case-with-serrated-polyposis-syndrome-controlled-by-multiple-applications-of-endoscopic-mucosal-resection-and-endoscopic-submucosal-dissection
#9
Daisuke Suzuki, Satohiro Matsumoto, Hirosato Mashima
BACKGROUND Serrated polyposis syndrome (SPS) is characterized by numerous hyperplastic polyps and sessile serrated adenoma/polyp (SSA/P) in the large intestine. SSA/P is known to transform into malignant lesions through the serrated pathway instead of the adenoma-carcinoma sequence. Early diagnosis with lower gastrointestinal endoscopy and early treatment are now considered to be essential. CASE REPORT We had an experience with a case of SPS to which endoscopic treatment was applied in multiple sessions. Endoscopic treatment was performed for 16 lesions in total, and the pathological findings were SSA/P for 15 and adenoma for the other lesion...
March 25, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28340255/massive-gastric-juvenile-polyposis-a-clinicopathologic-study-using-smad4-immunohistochemistry
#10
Margaret E Lawless, Daniel L Toweill, Kim D Jewell, Dhanpat Jain, Laura Lamps, Alyssa M Krasinskas, Paul E Swanson, Melissa P Upton, Matthew M Yeh
Objectives: Juvenile polyps involving the stomach are uncommon. Massive gastric juvenile polyposis is even rarer. Methods: We describe the clinicopathologic features of nine cases of massive gastric juvenile polyposis. Results: All patients had anemia; four had hypoalbuminemia. The polyps were composed predominantly of dilated crypts lined by columnar epithelium and abundant edematous stroma with mixed inflammatory infiltrates. One patient had a poorly differentiated adenocarcinoma, arising in juvenile polyp-associated intraepithelial neoplasia...
April 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28331556/the-genetic-basis-of-colonic-adenomatous-polyposis-syndromes
#11
REVIEW
Bente A Talseth-Palmer
Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided into; familial adenomatous polyposis (FAP) - classic FAP and attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP) and polymerase proofreading-associated polyposis (PPAP). The polyposis syndromes genetics and clinical manifestation of disease varies and cases with clinical diagnosis of FAP might molecularly show a different diagnosis...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28328160/co-morbidities-in-severe-asthma-clinical-impact-and-management
#12
REVIEW
Celeste Porsbjerg, Andrew Menzies-Gow
Patients with severe asthma represent a minority of the total asthma population, but carry a majority of the morbidity and healthcare costs. Achieving better asthma control in this group of patients is therefore of key importance. Systematic assessment of patients with possible severe asthma to identify treatment barriers and triggers of asthma symptoms, including co-morbidities, improves asthma control and reduces healthcare costs and is recommended by international guidelines on management of severe asthma...
March 22, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28321782/targeting-interleukin-5-or-interleukin-5r%C3%AE-safety-considerations
#13
REVIEW
Diego Bagnasco, Matteo Ferrando, Marco Caminati, Alice Bragantini, Francesca Puggioni, Gilda Varricchi, Giovanni Passalacqua, Giorgio Walter Canonica
Asthma is a highly prevalent chronic disease of the airways; approximately 10% of patients with asthma will experience a severe form of the disease. New understanding of the pathogenesis of asthma has enabled the development of novel drugs and provided hope for patients with asthma. Interleukin (IL)-5 and IL-5 receptor subunit α (IL-5-Rα) plays a crucial role in the development, maturation, and operation of eosinophils so were the first important therapeutic target of these new drugs. While the results of early clinical trials of these drugs were not promising, results improved once researchers discovered the drugs worked best in patients with high eosinophil levels...
March 20, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28314254/synchronous-endometrial-and-ovarian-cancer-in-young-women-case-report-and-review-of-the-literature
#14
REVIEW
Askin Dogan, Beate Schultheis, Günther A Rezniczek, Ziad Hilal, Cem Cetin, Günther Häusler, Clemens B Tempfer
BACKGROUND: Young women with endometrial cancer (EC) have an increased risk of synchronous ovarian cancer. The prognosis of women with synchronous endometrial and ovarian cancer (SEOC) is good. A high proportion of affected women have hereditary non-polyposis colon cancer syndrome (HNPCC). CASE PRESENTATION: We present the case of a 45-year-old woman with histologically proven endometrioid adenocarcinoma of the endometrium (pT1B, G2, R0 without lymphovascular space invasion)...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28290230/cilia-and-ear
#15
Gioia Piatti, Maria Margherita De Santi, Sara Torretta, Lorenzo Pignataro, Daniela Soi, Umberto Ambrosetti
OBJECTIVE: To investigate the prevalence of otological complications derived from primary ciliary dyskinesia (PCD) in adulthood. METHODS: Twenty-three patients with diagnosed PCD underwent medical history aimed at recording the presence of ear, nose, and throat manifestations (ENT) and any surgical treatments. The ENT objectivity was annotated, and then patients were subjected to audiometric test, tympanometry, registration of otoacoustic emission, and vestibular evaluation...
April 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28283864/lower-gastrointestinal-neuroendocrine-neoplasms-associated-with-hereditary-cancer-syndromes-a-case-series
#16
Trilokesh D Kidambi, Christina Pedley, Amie Blanco, Emily K Bergsland, Jonathan P Terdiman
Lower gastrointestinal (GI) neuroendocrine neoplasms (NENs) of the colon and rectum are uncommon and not traditionally associated with hereditary GI cancer syndromes. However, with widespread implementation of colorectal cancer screening programs, lower GI NENs are being identified with increasing frequency. We report the first case series of six patients with lower GI NENs who were diagnosed with hereditary GI cancer syndromes by germline testing. Two patients presented with poorly differentiated rectal neuroendocrine carcinoma (NECs) with colonic polyposis and were found to have Familial Adenomatous Polyposis and MYH-Associated Polyposis, respectively...
March 10, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28271094/clinical-outcomes-of-gastric-polyps-and-neoplasms-in-patients-with-familial-adenomatous-polyposis
#17
Keiko Nakamura, Satoru Nonaka, Takeshi Nakajima, Tatsuo Yachida, Seiichiro Abe, Taku Sakamoto, Haruhisa Suzuki, Shigetaka Yoshinaga, Ichiro Oda, Takahisa Matsuda, Shigeki Sekine, Yukihide Kanemitsu, Hitoshi Katai, Yutaka Saito, Seiichi Hirota
Background and study aims Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by the presence of more than 100 adenomatous polyps in the colorectum. The upper gastrointestinal tract is an extracolonic site for malignancy in patients with FAP. The frequency of death in Japanese patients with FAP because of gastric cancer is 2.8 % and that because of colon cancer is 60.6 %. Few studies have reported upper gastrointestinal diseases in patients with FAP...
March 2017: Endoscopy International Open
https://www.readbyqxmd.com/read/28260710/other-polyposis-syndrome-report-from-japanese-nationwide-survey-of-cronkhite-canada-syndrome
#18
Chikako Watanabe, Ryota Hokari, Soichiro Miura
No abstract text is available yet for this article.
2017: Nihon Shokakibyo Gakkai Zasshi, the Japanese Journal of Gastro-enterology
https://www.readbyqxmd.com/read/28253245/reducing-the-polyp-burden-in-serrated-polyposis-by-serial-colonoscopy-the-impact-of-nationally-coordinated-community-surveillance
#19
Susan Parry, Randall W Burt, Aung Ko Win, Ye Kyaw Aung, Sonja Woodall, Julie Arnold, Mark Clendenning, Daniel D Buchanan, Timothy J Price, Christophe Rosty, Joanne P Young
BACKGROUND: Serrated polyposis syndrome (SPS) is associated with an increased risk of colorectal cancer (CRC) and an evolving management approach. The aims of this study were to assess the polyp burden reduction over time, and the incidence of CRC in serrated polyposis patients undergoing community surveillance. METHODS: This is an observational study based on prospectively collected data. A total of 96 SPS patients with no personal history of CRC were prospectively enrolled in a surveillance program under the guidance of a tertiary center...
March 3, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/28250766/novel-implications-in-molecular-diagnosis-of-lynch-syndrome
#20
REVIEW
Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo
About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients...
2017: Gastroenterology Research and Practice
keyword
keyword
21678
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"