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Gastrointestinal Polyposis Syndromes

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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
#1
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/29739761/long-lasting-remission-in-a-case-of-cronkhite-canada-syndrome
#2
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/29707409/juvenile-idiopathic-arthritis-associated-with-combined-jp-hht-syndrome-a-novel-phenotype-associated-with-a-novel-variant-in-smad4
#3
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/29619395/sirolimus-in-refractory-cronkhite-canada-syndrome-and-focus-on-standard-treatment
#4
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
#5
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/29560650/an-unusual-case-of-hamartomatous-polyposis-with-malignancy-complication-in-a-patient-with-ulcerative-colitis-treated-with-golimumab
#6
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/29547604/hereditary-polyposis-syndromes-opportunities-for-early-detection-in-individuals-and-families
#7
Suzanne M Mahon
People with multiple polyps may have a germline mutation that places them at higher risk for developing colorectal, gastrointestinal, and other cancers. Genetic testing can often identify the specific polyposis syndrome and provide insight into appropriate recommendations for cancer prevention and early detection. Individuals with hereditary polyposis syndromes often begin developing polyps in their teenage years and require aggressive gastrointestinal surveillance to remove polyps. For some, the polyp burden will be too high to manage endoscopically and will require risk-reducing colectomies...
April 1, 2018: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29510583/integration-of-lncrna-and-mrna-transcriptome-analyses-reveals-genes-and-pathways-potentially-involved-in-calf-intestinal-growth-and-development-during-the-early-weeks-of-life
#8
Eveline M Ibeagha-Awemu, Duy N Do, Pier-Luc Dudemaine, Bridget E Fomenky, Nathalie Bissonnette
A better understanding of the factors that regulate growth and immune response of the gastrointestinal tract (GIT) of calves will promote informed management practices in calf rearing. This study aimed to explore genomics (messenger RNA (mRNA)) and epigenomics (long non-coding RNA (lncRNA)) mechanisms regulating the development of the rumen and ileum in calves. Thirty-two calves (≈5-days-old) were reared for 96 days following standard procedures. Sixteen calves were humanely euthanized on experiment day 33 (D33) (pre-weaning) and another 16 on D96 (post-weaning) for collection of ileum and rumen tissues...
March 5, 2018: Genes
https://www.readbyqxmd.com/read/29498365/-small-intestine-neoplasms
#9
EDITORIAL
Tomasy Sarosiek, Małgorzata Stelmaszuk
Small intestine tumors are rarely diagnosed as they constitute only 0.6% of all malignant tumors, including about 1-3% of malignant neoplasms of the gastrointestinal tract. They also advocate for 0.2% of deaths caused by malignant tumors. Factors that increase the risk of disease include Crohn's disease, familial adenomatous polyposis (FAP), Lynch syndrome (HNPCC - hereditary non-polyposis colorectal cancer), Peuz-Jeghers syndrome, celiac disease and acquired immunodeficiency syndrome (AIDS). Diagnosis of small intestinal tumors is difficult because the symptoms reported by patients are not characteristic...
February 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29435294/therapy-associated-myelodysplastic-syndrome-with-monosomy-7-arising-in-a-muir-torre-syndrome-patient-carrying-setbp1-mutation
#10
David Ullman, Erin Baumgartner, Nicholas Wnukowski, Gabe Koenig, Fady M Mikhail, Peter Pavlidakey, Deniz Peker
Muir-Torre Syndrome (MTS) is a rare hereditary autosomal dominant cancer syndrome and is linked to hereditary non-polyposis colorectal carcinoma (Lynch Syndrome). Individuals develop various skin neoplasms in addition to colorectal, endometrial and upper gastrointestinal malignancies. Therapy-associated myelodysplastic syndrome (T-MDS) is an aggressive hematologic malignancy and is considered a pre-leukemic phase. T-MDS is associated with prior exposure to chemo- and radiotherapy that potentially results in DNA damage...
February 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29397239/hereditary-gastrointestinal-carcinomas-and-their-precursors-an-algorithm-for-genetic-testing
#11
REVIEW
Clothaire P E Spoto, Irene Gullo, Fatima Carneiro, Elizabeth A Montgomery, Lodewijk A A Brosens
Recognition of hereditary forms of gastrointestinal cancer is of great importance for patients and their families and pathologists play a crucial role in this. This review recapitulates the clinical, pathological and molecular aspects of Hereditary Diffuse Gastric Cancer and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, as well as hereditary colorectal cancer syndromes such as Lynch syndrome and gastrointestinal polyposis syndromes (including Familial Adenomatous Polyposis, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome)...
May 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29395463/uncovering-hereditary-tumor-syndromes-emerging-role-of-surgical-pathology
#12
REVIEW
Abbas Agaimy, Arndt Hartmann
With the increased use of modern next generation sequencing technologies in routine molecular pathology practice, the proportion of cancer cases with a definite or probable hereditary background seems to be steadily increasing. Currently, it is assumed that ≥10% of all malignancies develop in the setting of germline predisposition. Diagnosis and recognition of cancer predisposition syndromes relies not rarely on distinctive histopathological features that proved to be highly valuable and reproducible in uncovering those diseases that would otherwise have gone undetected by clinicians as being hereditary in nature...
May 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29202677/cronkhite-canada-syndrome-causing-pouch-outlet-obstruction-5-years-after-roux-en-y-gastric-bypass
#13
Ben Gys, Joren Mertens, Martin Ruppert, Guy Hubens
OBJECTIVE: We present the case of a 57-year-old man with a history of Roux-en-Y gastric bypass (RYGB) and colonic polyps who presented with an upper gastrointestinal obstruction based on massive stomach polyposis in the pouch. METHODS: Two months prior to this acute admission, he had undergone resection of the gastric remnant due to massive refractory intraluminal bleeding from a polypoid mass. Ten years earlier, right colectomy was performed due to hypertrophic polyposis unsuitable for endoscopic polypectomy...
December 5, 2017: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/29202476/stromal-lkb1-deficiency-leads-to-gastrointestinal-tumorigenesis-involving-the-il-11-jak-stat3-pathway
#14
Saara Ollila, Eva Domènech-Moreno, Kaisa Laajanen, Iris Pl Wong, Sushil Tripathi, Nalle Pentinmikko, Yajing Gao, Yan Yan, Elina H Niemelä, Timothy C Wang, Benoit Viollet, Gustavo Leone, Pekka Katajisto, Kari Vaahtomeri, Tomi P Mäkelä
Germline mutations in the gene encoding tumor suppressor kinase LKB1 lead to gastrointestinal tumorigenesis in Peutz-Jeghers syndrome (PJS) patients and mouse models; however, the cell types and signaling pathways underlying tumor formation are unknown. Here, we demonstrated that mesenchymal progenitor- or stromal fibroblast-specific deletion of Lkb1 results in fully penetrant polyposis in mice. Lineage tracing and immunohistochemical analyses revealed clonal expansion of Lkb1-deficient myofibroblast-like cell foci in the tumor stroma...
January 2, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29178089/-current-status-of-hereditary-gastrointestinal-neoplasms
#15
Yulong He
Gastric cancer and colorectal cancer are two common malignant tumors in digestive tract. 1% to 3% of gastric cancer and 5% to 15% of colorectal cancer are definitely hereditary cancer caused by germline gene mutation. Hereditary gastric cancer includes hereditary diffuse gastric cancer(HDGC) and hereditary intestinal gastric cancer (HIGC). CDH1 gene mutation is the main reason to cause HDGC, so the first degree and the second degree family members of HDGC patients are recommended to receive CDH1 mutation detection, endoscopic examination every year and undergo preventive total gastrectomy...
November 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/29168369/polyposis-deserves-a-perfect-physical-examination-for-final-diagnosis-bannayan-riley-ruvalcaba-syndrome
#16
Hayriye Hızarcıoğlu-Gülşen, Esra Kılıç, Elena Dominguez-Garrido, Yusuf Aydemir, Gülen Eda Utine, İnci Nur Saltık-Temizel
Hızarcıoğlu-Gülşen H, Kılıç E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltık-Temizel İN. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Turk J Pediatr 2017; 59: 80-83. Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant inherited polyposis syndrome characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis. The mutation of the PTEN gene that is responsible for controlling cellular proliferation, migration and apoptosis clarifies the reason of tissue overgrowth in BRRS...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29156563/wnt-inhibitory-activity-of-malus-pumila-miller-cv-annurca-and-malus-domestica-cv-limoncella-apple-extracts-on-human-colon-rectal-cells-carrying-familial-adenomatous-polyposis-mutations
#17
Gennaro Riccio, Maria Maisto, Sara Bottone, Nadia Badolati, Giovanni Battista Rossi, Gian Carlo Tenore, Mariano Stornaiuolo, Ettore Novellino
Inhibitors of the Wingless-related Integration site (WNT)/β-catenin pathway have recently been under consideration as potential chemopreventive agents against Familial Adenomatous Polyposis (FAP). This autosomal-dominant syndrome is caused by germline mutations in the gene coding for the protein APC and leads to hyperactivation of the WNT/β-catenin signaling pathway, uncontrolled intestinal cell proliferation and formation of adenocarcinomas. The aim of the present work was to: (i) test, on in vitro cultures of cells carrying FAP mutations and on ex vivo biopsies of FAP patients, the WNT inhibitory activity of extracts from two common southern Italian apples, Malus pumila Miller cv...
November 18, 2017: Nutrients
https://www.readbyqxmd.com/read/29058694/nail-matrix-pathology-in-cronkhite-canada-syndrome-the-first-case-report
#18
Mati Chuamanochan, Napatra Tovanabutra, Pongsak Mahanupab, Sarawut Kongkarnka, Siri Chiewchanvit
Cronkhite-Canada Syndrome (CCS) presents with gastrointestinal polyposis and the triad of cutaneous abnormalities including nail dystrophy, alopecia, and hyperpigmentation of the skin. The etiology is not well understood. The histology of skin lesion in CCS has not been routinely described. Especially, the nail matrix pathology has not been reported. In this study, the authors report the nail matrix pathology in a patient with CCS. Interestingly, the histologic evaluation revealed matrix hypergranulosis. Because matrix hypergranulosis is commonly found in several inflammatory nail diseases, this discovery points out that an inflammatory process is probably one of the important pathogeneses in CCS...
November 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28930817/cronkhite-canada-syndrome-associated-with-colon-cancer-metastatic-to-liver-a-case-report
#19
Jing Wang, Lei Zhao, Nina Ma, Juanjuan Che, Huihui Li, Bangwei Cao
RATIONALE: Cronkhite-Canada Syndrome (CCS) is an idiopathic, nonhereditary syndrome haracterized by gastrointestinal (GI) polyposis and ectodermal changes including alopecia, onychatrophia, and pigmentation. CCS colon polyps were previously considered to be benign neoplasms. However, serrated adenoma was reported to be associated with malignant neoplasms in some cases of gastric and colorectal carcinomas, and esophageal cancers. Although malignant colon and gastric cancer have been reported in CCS, reports of distant metastasis have been rare in CCS...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28901964/the-role-of-the-surgical-pathologist-in-the-diagnosis-of-gastrointestinal-polyposis-syndromes
#20
Christophe Rosty
Polyps of the gastrointestinal tract are very common lesions and most frequently sporadic in nature. Some polyp subtypes are associated with rare hereditary polyposis syndromes, including juvenile polyposis syndrome, Peutz-Jeghers syndrome, and Cowden syndrome. However, many sporadic benign lesions of the gastrointestinal tract can mimic some of these syndromic hamartomatous polyps. The role of the surgical pathologist is to raise the possibility of a hereditary condition in case of suggestive polyp histology and to look for clinical information to support the suspected diagnosis...
January 2018: Advances in Anatomic Pathology
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