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Gastrointestinal polyposis

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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/29744787/ada-deficiency-evaluation-of-the-clinical-and-laboratory-features-and-the-outcome
#2
Deniz Cagdas, Pınar Gur Cetinkaya, Betül Karaatmaca, Saliha Esenboga, Cagman Tan, Togay Yılmaz, Ersin Gümüş, Safa Barış, Barış Kuşkonmaz, Tuba Turul Ozgur, Pawan Bali, Ines Santisteban, Diclehan Orhan, Aysel Yüce, Duygu Cetinkaya, Kaan Boztug, Michael Hershfield, Ozden Sanal, İlhan Tezcan
INTRODUCTION: Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intracellular accumulation of toxic metabolites which have effects particularly on lymphocytes and the brain. The aim of this study was to evaluate the outcome of 13 ADA-deficient patients. We planned to evaluate their clinical and laboratory findings before and after enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (aHSCT), and hematopoietic stem cell gene therapy (HSCGT)...
May 9, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29739761/long-lasting-remission-in-a-case-of-cronkhite-canada-syndrome
#3
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
#4
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/29672847/loss-of-n-wasp-drives-early-progression-in-an-apc-model-of-intestinal-tumourigenesis
#5
Hayley T Morris, Loic Fort, Heather J Spence, Rachana Patel, David F Vincent, James H Park, Scott B Snapper, Francis A Carey, Owen J Sansom, Laura M Machesky
N-WASP (WASL) is a widely expressed cytoskeletal signalling and scaffold protein also implicated in regulation of Wnt signalling and homeostatic maintenance of skin epithelial architecture. N-WASP mediates invasion of cancer cells in vitro and its depletion reduces invasion and metastatic dissemination of breast cancer. Given this role in cancer invasion and universal expression in the gastrointestinal tract, we explored a role for N-WASP in the initiation and progression of colorectal cancer. While deletion of N-wasp is not detectably harmful in the murine intestinal tract, numbers of Paneth cells increased, indicating potential changes in the stem cell niche and migration up the crypt-villus axis was enhanced...
April 19, 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29619395/sirolimus-in-refractory-cronkhite-canada-syndrome-and-focus-on-standard-treatment
#6
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
#7
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
#8
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
#9
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/29515097/multiple-lymphomatous-polyposis-of-the-intestine-with-ileocecal-intussusception-due-to-mantle-cell-lymphoma-a-case-report-of-a-34-year-old-man
#10
Chuan-Gao Xie, Xiao-Ming Xu, Shu-Mei Wei
BACKGROUND Multiple lymphomatous polyposis of the gastrointestinal tract can be associated with the B-cell lymphoma variant, mantle cell lymphoma, with most cases having been described in patients who are more than 50 years-of-age. A rare case of multiple lymphomatous polyposis due to mantle cell lymphoma is reported in a 34-year-old man. CASE REPORT A 34-year-old man presented with paroxysmal abdominal pain followed by spontaneous remission, which had been previously diagnosed as gastritis. An episode of ileocecal intussusception occurred, which was confirmed on imaging studies...
March 8, 2018: American Journal of Case Reports
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
#11
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
#12
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/29484052/computed-tomography-findings-of-diffuse-gastrointestinal-mantle-cell-lymphoma
#13
Fernando Ide Yamauchi, Fabíola Moura Moroto Rocha, Eziel Cavalcanti Vasconcelos Rocha, Sheila Aparecida Coelho Siqueira, Manoel de Souza Rocha
Multiple lymphomatous polyposis is an uncommon type of primary non-Hodgkin's lymphoma, characterized by multiple lymphomatous polyps along the gastrointestinal tract. We present 2 cases of diffuse gastrointestinal involvement and illustrate radiological and pathologic findings.
December 2017: Radiology Case Reports
https://www.readbyqxmd.com/read/29483987/neurofibromatosis-type-1-with-massive-ventricular-polyposis-first-report-in-the-medical-literature
#14
Georgi Tchernev, Anastasiya Atanasova Chokoeva, Uwe Wollina, Torello Lotti, Georgi Konstantinov Maximov, Ilia Lozev
BACKGROUND: Neurofibromatosis type 1 ( NF1 ) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, malignant peripheral nerve sheath tumour, optic and non-optic nerve gliomas, congenital heart disease, cardiovascular and cerebrovascular disease and orthopaedic disorders...
January 25, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29435294/therapy-associated-myelodysplastic-syndrome-with-monosomy-7-arising-in-a-muir-torre-syndrome-patient-carrying-setbp1-mutation
#15
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/29434133/mantle-cell-lymphoma-with-a-single-protruding-lesion-as-the-cause-of-intussusception
#16
Katsunori Matsueda, Tatsuya Toyokawa, Masahiro Sakata, Isao Fujita, Jouichiro Horii
Mantle cell lymphoma (MCL) is a malignant lymphoma of the gastrointestinal tract that mostly presents as multiple lymphomatous polyposis (MLP); however, MLP with intussusception is rarely reported in MCL. Furthermore, a single protruding lesion with intussusception has never been reported in primary small intestinal MCL. A 70-year-old man presented with pain in the right lower abdomen. Computed tomography and colonoscopy revealed ileocecal intussusception. Ileocecal resection was performed. Histology and immunohistochemistry of the resected specimen showed MCL with a single protruding lesion...
February 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29397239/hereditary-gastrointestinal-carcinomas-and-their-precursors-an-algorithm-for-genetic-testing
#17
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
#18
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/29377868/characteristics-of-adrenal-masses-in-familial-adenomatous-polyposis
#19
Jonah S Shiroky, Jordan P Lerner-Ellis, Anand Govindarajan, David R Urbach, Karen M Devon
BACKGROUND: Adrenal masses are a known extraintestinal manifestation of familial adenomatous polyposis. However, the literature on this association is largely confined to case reports. OBJECTIVE: This study aimed to determine the characteristics of adrenal masses in familial adenomatous polyposis and their clinical significance, as well as to estimate their prevalence. Mutational analysis was conducted to determine if any potential genotype-phenotype correlations exist...
January 24, 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29216840/over-the-scope-clip-pre-mounted-onto-a-double-balloon-enteroscope-for-fast-and-successful-closure-of-post-emr-jejunal-perforation-case-report
#20
Flaminia Purchiaroni, Takeshi Nakajima, Taku Sakamoto, Seiichiro Abe, Yutaka Saito
BACKGROUND: Familial adenomatous polyposis (FAP) is a rare, autosomal dominant disease clinically characterized by the early onset of many adenomatous polyps throughout the colon, which turn into colon cancer, if left untreated. In FAP patients, polyps can also occur in the upper gastrointestinal (GI) tract, especially in the duodenum. Adenomas beyond duodenum are rare and mostly located in the proximal jejunum and distal ileum. The management of such polyps can be either surgical or endoscopic, depending on the features of the polyp, Spigelman stage and patient's clinical conditions...
December 8, 2017: BMC Gastroenterology
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