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Juvenile polyp

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https://www.readbyqxmd.com/read/28600700/co-occurrence-of-lynch-syndrome-and-juvenile-polyposis-syndrome-confirmed-by-multigene-panel-testing
#1
Rachel Silva-Smith, Daniel A Sussman
Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. To our knowledge, this is the first report of an individual having these two hereditary colorectal cancer syndromes. This discovery highlights the benefit of multigene testing over traditional stepwise genetic testing, particularly when a clinical presentation suggests more than one underlying genetic cause...
June 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28550623/malignant-tumors-associated-with-juvenile-polyposis-syndrome-in-japan
#2
REVIEW
Hideyuki Ishida, Keiichiro Ishibashi, Takeo Iwama
PURPOSE: The risk of malignant tumors developing in association with juvenile polyposis syndrome (JPS) was evaluated to explore the optimal treatment for this rare disease. METHODS: We reviewed the data on JPS cases reported in Japan between January, 1971 and March, 2016. RESULTS: A total of 171 cases were evaluable. Of these 171 patients, 83 (48.5%) were female and the median age at diagnosis was 28 years (range 1-80 years). The polyps were located in the stomach alone (n = 62; 36...
May 26, 2017: Surgery Today
https://www.readbyqxmd.com/read/28489743/narrow-band-imaging-endoscopy-is-advantageous-over-conventional-white-light-endoscopy-for-the-diagnosis-and-treatment-of-children-with-peutz-jeghers-syndrome
#3
Weiwei Cheng, Haifeng Liu, Zhujun Gu, Zhihong Hu, Ling Wang, Xing Wang
Using narrow-band imaging (NBI), the micro morphology of polyp surfaces was visualized at high resolution when the contrast between the lesions and the surrounding tissue areas was intensified. The objective of the study was to compare NBI and conventional white light endoscopy (C-WLI) for diagnostic efficacy and treatment of children with Peutz-Jeghers syndrome (PJS), a rare autosomal dominant-genetic disease.We retrospectively analyzed the clinical data of 18 patients diagnosed with PJS and 72 diagnosed with juvenile polyps during the same time period...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28474162/-hereditary-colorectal-cancer-an-update-on-genetics-and-entities-in-terms-of-differential-diagnosis
#4
REVIEW
T T Rau, H Dawson, A Hartmann, J Rüschoff
The pathologist can contribute to recognizing hereditary causes of colorectal cancer via morphology. By identifying so-called index patients, it is possible to take preventive measures in affected families. The precise definition of the clinical presentation and the histopathological phenotype help to narrow the spectrum of expected genetic alterations. Novelties within Lynch syndrome include the recognition of EPCAM as a fifth gene locus, as well as the newly defined Lynch-like syndrome with evidence of somatic mismatch repair (MMR) mutations...
May 4, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28428902/nonfamilial-juvenile-polyposis-syndrome-with-exon-5-novel-mutation-in-smad-4-gene
#5
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/28340255/massive-gastric-juvenile-polyposis-a-clinicopathologic-study-using-smad4-immunohistochemistry
#6
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/28247232/update-from-the-4th-edition-of-the-world-health-organization-classification-of-head-and-neck-tumours-nasopharynx
#7
Edward B Stelow, Bruce M Wenig
The current WHO classification system for tumors of the head and neck has made few changes from the previous edition with regards to tumors of the nasopharynx. The classification system is discussed here with particular attention to nasopharyngeal carcinoma, nasopharyngeal papillary adenocarcinoma, salivary gland anlage tumor, hairy polyp, juvenile angiofibroma, and other tumors.
March 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28208929/colocolic-intussusception-in-a-child-with-pathologic-lead-point-along-with-intestinal-malrotation-a-rare-case-report-and-brief-review
#8
Prasanta Kumar Tripathy, Pradeep Kumar Jena
Intestinal obstruction in children is frequently caused by intussusception and intestinal malrotation and when these two conditions co-exist, it is called Waugh's syndrome. Intussusception cases in children are mostly ileocolic, whereas, the colocolic variety is a rare entity and very few cases have been reported in literature. In all the reported cases of Waugh's syndrome, the intussusceptions were ileocolic type except one case, where colocolic type was mentioned with lymphangoima as Pathological Lead Point (PLP)...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28168076/coexistence-of-juvenile-like-polyp-with-neurofibroma-at-the-gastroesophageal-junction-in-an-adult-with-neurofibromatosis-type-i
#9
Namrah Aijaz, Peter Draganov, Atif Iqbal, Xiuli Liu
A 23-year-old Caucasian male with Neurofibromatosis Type I (NF-I) was found to have a submucosal nodule at the gastroesophageal junction (GEJ) and underwent endoscopic submucosal dissection. Histological examination revealed two different lesions within the nodule. The dominant lesion was inflammatory/hyperplastic (juvenile-like) polyp with obliterative vasculopathy while the smaller lesion was a neurofibroma. Gastric/GEJ lesions in NF-I are very rare with only seven cases reported in the literature. Three cases of juvenile-like gastric polyps (located in the antrum, greater curvature, and fundus) have been reported in adult NF-I patients...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28141681/osseous-metaplasia-in-a-juvenile-rectal-polyp
#10
Harry Russell Haynes, Anthony E Wiskin, Dharam Basude, Elise Gradhand
No abstract text is available yet for this article.
January 28, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27991685/massive-gastric-juvenile-type-polyposis-a-clinicopathological-analysis-of-22-cases
#11
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 that is often associated with juvenile polyposis syndrome (JPS). The aim of this study was to evaluate the clinicopathological 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 years). Fourteen (64%) patients carried a diagnosis of JPS, and three had prior gastrointestinal adenocarcinomas...
May 2017: Histopathology
https://www.readbyqxmd.com/read/27845203/complete-mitochondrial-genome-and-evolutionary-analysis-of-turritopsis-dohrnii-the-immortal-jellyfish-with-a-reversible-life-cycle
#12
A A Lisenkova, A P Grigorenko, T V Tyazhelova, T V Andreeva, F E Gusev, A D Manakhov, A Yu Goltsov, S Piraino, M P Miglietta, E I Rogaev
Turritopsis dohrnii (Cnidaria, Hydrozoa, Hydroidolina, Anthoathecata) is the only known metazoan that is capable of reversing its life cycle via morph rejuvenation from the adult medusa stage to the juvenile polyp stage. Here, we present a complete mitochondrial (mt) genome sequence of T. dohrnii, which harbors genes for 13 proteins, two transfer RNAs, and two ribosomal RNAs. The T. dohrnii mt genome is characterized by typical features of species in the Hydroidolina subclass, such as a high A+T content (71...
November 11, 2016: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/27833772/adenomatous-polyps-in-adolescent-girl-and-boy-a-report-of-two-cases
#13
Laleh Vahedi Larijani, Maryam Ghasemi, Hassan Karami
A polyp is defined as a mass of the mucosal surface that protrudes into the lumen of the gastrointestinal tract. Neoplastic epithelial polyps are classified histologically as either benign adenoma or malignant carcinoma. The colonic polyps that most commonly present in children occur sporadically and individually and are of the juvenile type; they are most frequently associated with painless rectal hemorrhage (which is the most common symptom). Adenomatous polyps are similar to other nontumoral polyps, and it is very rare for children to have symptoms other than rectal bleeding...
2016: Case Reports in Pathology
https://www.readbyqxmd.com/read/27661969/gastrointestinal-polyposis-in-cowden-syndrome
#14
Ruthy Shaco-Levy, Kory W Jasperson, Katie Martin, N J Samadder, Randall W Burt, Jian Ying, Mary P Bronner
GOALS: To further characterize the gastrointestinal manifestations of Cowden syndrome in clinically well-annotated patients to improve the diagnosis of this syndrome. BACKGROUND: The gastrointestinal manifestations of Cowden Syndrome, an important heritable and multiorgan cancer syndrome, are not well defined. Proper diagnosis is essential for effective cancer surveillance and prevention in these patients. STUDY: Cowden patients with gastrointestinal polyps were selected for medical record and pathologic slide review...
September 22, 2016: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/27644675/accuracy-of-fdg-pet-ct-for-detection-of-incidental-pre-malignant-and-malignant-colonic-lesions-correlation-with-colonoscopic-and-histopathologic-findings
#15
Anchisa Kunawudhi, Alexandra K Wong, Tarik K Alkasab, Umar Mahmood
PURPOSE: We evaluated all PET/CTs acquired for patients without a primary diagnosis of colorectal cancer, and compared results for those who had subsequent colonoscopy within 6 months, to assess the accuracy of FDG PET/CT for detection of incidental pre-malignant polyps and malignant colon cancers. MATERIALS AND METHODS: Medical records of 9,545 patients who underwent F-18 FDG PET/CT studies over 3.5 years were retrospectively reviewed. Due to pre-existing diagnosis of colorectal cancer, 818 patients were excluded...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27631205/juvenile-polyposis-syndrome-an-unusual-case-report-of-anemia-and-gastrointestinal-bleeding-in-young-infant
#16
Yi-Han Hsiao, Chin-Hung Wei, Szu-Wen Chang, Lung Chang, Yu-Wei Fu, Hung-Chang Lee, Hsuan-Liang Liu, Chun-Yan Yeung
BACKGROUND: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. METHODS: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27577998/current-molecular-profile-of-juvenile-nasopharyngeal-angiofibroma-first-comprehensive-study-from-india
#17
Praveen Pandey, Anupam Mishra, Ashoak Mani Tripathi, Veerendra Verma, Ritu Trivedi, Hitendra Prakash Singh, Sunil Kumar, Brijesh Patel, Vinay Singh, Shivani Pandey, Amita Pandey, Subhash Chandra Mishra
OBJECTIVE: An attempt is made to analyze the molecular behavior of juvenile nasopharyngeal angiofibroma (JNA). STUDY DESIGN: Case Series METHODS: Quantification of mRNAs expression was undertaken through real-time polymerase chain reaction in JNA (9-24) samples for VEGF-A, basic fibroblast growth factor (b-FGF), platelet-derived growth factor PDGF-A, KIT proto-oncogene receptor tyrosine kinase (c-Kit), Avian myelomatosis viral oncogene homolog (c-Myc), Harvey rat sarcoma viral oncogene homolog (H-Ras), tumor suppressor gene TP53, and androgen receptor and interleukin 6 (IL-6)...
August 31, 2016: Laryngoscope
https://www.readbyqxmd.com/read/27573780/syndromic-gastric-polyps-at-the-crossroads-of-genetic-and-environmental-cancer-predisposition
#18
REVIEW
Lodewijk A A Brosens, Francis M Giardiello, G Johan Offerhaus, Elizabeth A Montgomery
Gastric polyps occur in 1-4 % of patients undergoing gastroscopy. Although most are sporadic, some gastric polyps are part of an underlying hereditary syndrome. Gastric polyps can be seen in each of the well-known gastrointestinal polyposis syndromes, but also in Lynch syndrome and in several rare not primarily gastrointestinal syndromes. In addition, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) is a recently described heritable syndrome characterized by isolated gastric polyposis and risk of gastric cancer...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27554815/age-dictates-a-steroid-resistant-cascade-of-wnt5a-transglutaminase-2-and-leukotrienes-in-inflamed-airways
#19
Katharina Dietz, Marta de Los Reyes Jiménez, Eva S Gollwitzer, Adam M Chaker, Ulrich M Zissler, Olof P Rådmark, Hoeke A Baarsma, Melanie Königshoff, Carsten B Schmidt-Weber, Benjamin J Marsland, Julia Esser-von Bieren
BACKGROUND: Airway remodeling is a detrimental and refractory process showing age-dependent clinical manifestations that are mechanistically undefined. The leukotriene (LT) and wingless/integrase (Wnt) pathways have been implicated in remodeling, but age-specific expression profiles and common regulators remained elusive. OBJECTIVE: We sought to study the activation of the LT and Wnt pathways during early- or late-onset allergic airway inflammation and to address regulatory mechanisms and clinical relevance in normal human bronchial epithelial cells (NHBEs) and nasal polyp tissues...
April 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27477802/hamartomatous-polyps-a-clinical-and-molecular-genetic-study
#20
REVIEW
Anne Marie Jelsig
Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathological appearance...
August 2016: Danish Medical Journal
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