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Polyposis syndromes

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https://www.readbyqxmd.com/read/27910069/lkb1-as-a-tumor-suppressor-in-uterine-cancer-mouse-models-and-translational-studies
#1
Christopher G Peña, Diego H Castrillón
The LKB1 tumor suppressor was identified in 1998 as the gene mutated in the Peutz-Jeghers Syndrome (PJS), a hereditary cancer predisposition characterized by gastrointestinal polyposis and a high incidence of cancers, particularly carcinomas, at a variety of anatomic sites including the gastrointestinal tract, lung, and female reproductive tract. Women with PJS have a high incidence of carcinomas of the uterine corpus (endometrium) and cervix. The LKB1 gene is also somatically mutated in human cancers arising at these sites...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27899913/steroid-responsive-mononeuritis-multiplex-in-the-cronkhite-canada-syndrome
#2
Y L Lo, K H Lim, X M Cheng, S Mesenas
The Cronkhite-Canada syndrome (CCS) is a rare disorder of unknown origin characterized by generalized gastrointestinal polyposis, alopecia, hyperpigmentation, and onychodystrophy. We report a case of CCS with concomitant presentation of mononeuritis multiplex. The electrophysiological findings and steroid responsiveness suggests presence of an autoimmune mechanism.
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27891260/intravenous-vitamin-c-administered-as-adjunctive-therapy-for-recurrent-acute-respiratory-distress-syndrome
#3
Amit Bharara, Catherine Grossman, Daniel Grinnan, Aamer Syed, Bernard Fisher, Christine DeWilde, Ramesh Natarajan, Alpha A Berry Fowler
This case report summarizes the first use of intravenous vitamin C employed as an adjunctive interventional agent in the therapy of recurrent acute respiratory distress syndrome (ARDS). The two episodes of ARDS occurred in a young female patient with Cronkhite-Canada syndrome, a rare, sporadically occurring, noninherited disorder that is characterized by extensive gastrointestinal polyposis and malabsorption. Prior to the episodes of sepsis, the patient was receiving nutrition via chronic hyperalimentation administered through a long-standing central venous catheter...
2016: Case Reports in Critical Care
https://www.readbyqxmd.com/read/27890312/variables-associated-with-loss-of-ileoanal-pouches-constructed-in-childhood
#4
Khaled Abdelaal, Bruce Jaffray
AIMS: To quantify the incidence of loss of an ileoanal pouch in children and to identify variables associated this event. METHODS: Logistic regression of possible explanatory variables: age, sex, indication for procto-colectomy, pre-operative continence status, use of immunosuppressive drugs, open or laparoscopic surgery, number of stages, anastomotic leak, operative complication excluding anastomotic leak, performance of revisional surgery, albumin concentration and platelet count at time of surgery, rank order in series...
November 13, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27888916/refractory-chronic-rhinosinusitis-with-nasal-polyposis
#5
REVIEW
Benjamin P Hull, Rakesh K Chandra
Chronic rhinosinusitis with nasal polyposis (CRSwNP) represents a subset of chronic sinusitis with various causes. Some forms of the disease are driven by allergy, often in association with asthma. Refractory CRSwNP can be associated with cystic fibrosis and other clinical syndromes. More recent literature is presented regarding roles of innate immunity and superantigens. Effective treatment of CRSwNP requires careful endoscopic sinus surgery followed by an individualized treatment plan that often includes oral and topical steroids...
February 2017: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/27888866/hereditary-forms-of-colorectal-cancer
#6
Antoni Castells
Colorectal cancer is one of the most frequent neoplasms in western countries; it is the third most common cancer in men after prostate and lung cancer and the second most common in women after breast cancer. Colorectal cancer is usually sporadic but in a small proportion is hereditary. The genetic cause is well established, allowing pre-symptomatic diagnosis in at-risk relatives. The present article reviews the most novel findings presented at the latest meeting of the American Gastroenterological Association on hereditary forms of colorectal cancer, especially Lynch syndrome and MUTYH-associated polyposis, as well as diverse organisational aspects that can favour the correct management of these patients and their relatives...
September 2016: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/27870730/cutaneous-sebaceous-lesions-in-a-patient-with-mutyh-associated-polyposis-mimicking-muir-torre-syndrome
#7
Denisa Kacerovska, Lubomir Drlik, Lenka Slezakova, Michal Michal, Jan Stehlik, Monika Sedivcova, Ladislav Hadravsky, Dmitry V Kazakov
A 76-year-old white male with a history of adenocarcinoma of the rectosigmoideum and multiple colonic polyps removed at the age of 38 and 39 years by an abdominoperitoneal amputation and total colectomy, respectively, presented with multiple whitish and yellowish papules on the face and a verrucous lesion on the trunk. The lesions were surgically removed during the next 3 years and a total of 13 lesions were investigated histologically. The diagnoses included 11 sebaceous adenomas, 1 low-grade sebaceous carcinoma, and 1 squamous cell carcinoma...
December 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27870147/management-strategies-in-lynch-syndrome-and-familial-adenomatous-polyposis-a-national-healthcare-survey-in-japan
#8
Tomoki Yamano, Michiko Hamanaka, Akihito Babaya, Kei Kimura, Masayoshi Kobayashi, Miki Fukumoto, Kiyoshi Tsukamoto, Masafumi Noda, Nagahide Matsubara, Naohiro Tomita, Kenichi Sugihara
Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are major sources of hereditary colorectal cancer (CRC) and associated with other malignancies. There is some heterogeneity in management strategies in Japan. We performed a survey of management of hereditary CRC in hospitals that are members of the Japan Society of Colorectal Cancer Research (JSCCR). One hundred and ninety departments responded, of which 127 were from designated cancer care hospitals (DCCHs) according to the Japanese government. There were 25 488 operations for CRC in these departments in 2015...
November 21, 2016: Cancer Science
https://www.readbyqxmd.com/read/27855387/five-years-of-multidisciplinary-care-in-hereditary-cancer-our-experience-in-a-spanish-university-hospital
#9
I Márquez-Rodas, M Lobo, C Flores-Sanchez, M Sanz, S Luque, S Lizarraga, C González-Asanza, J A Pajares, M I Peligros, O Bueno, C Mata, C Lopez, S López-Tarruella, Y Jerez, A Muñoz-Martin, M Blanco, M Die-Trill, J P Justel, J Solera, M Martin
OBJECTIVE: To analyse the evolution of a multidisciplinary heredofamilial cancer unit (HFCU) in a university hospital. METHODS: This was a retrospective analysis of the activity of our HFCU in its first 5 years of existence. RESULTS: Between July 2010 and July 2015, 1,518 patients from 1,318 families attended our HFCU. Genetic testing was offered to 862 patients. Of those, 833 (96.6%) accepted testing, with available results for 636 (76.4%)...
November 18, 2016: Oncology
https://www.readbyqxmd.com/read/27852007/apc-conditional-knock-out-mouse-is-a-model-of-infantile-spasms-with-elevated-neuronal-%C3%AE-catenin-levels-neonatal-spasms-and-chronic-seizures
#10
Antonella Pirone, Jon Alexander, Lauren A Lau, David Hampton, Andrew Zayachkivsky, Amy Yee, Audrey Yee, Michele H Jacob, Chris G Dulla
Infantile spasms (IS) are a catastrophic childhood epilepsy syndrome characterized by flexion-extension spasms during infancy that progress to chronic seizures and cognitive deficits in later life. The molecular causes of IS are poorly defined. Genetic screens of individuals with IS have identified multiple risk genes, several of which are predicted to alter β-catenin pathways. However, evidence linking malfunction of β-catenin pathways and IS is lacking. Here, we show that conditional deletion in mice of the adenomatous polyposis coli gene (APC cKO), the major negative regulator of β-catenin, leads to excessive β-catenin levels and multiple salient features of human IS...
November 13, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27851738/cascading-muts-and-mutl-sliding-clamps-control-dna-diffusion-to-activate-mismatch-repair
#11
Jiaquan Liu, Jeungphill Hanne, Brooke M Britton, Jared Bennett, Daehyung Kim, Jong-Bong Lee, Richard Fishel
Mismatched nucleotides arise from polymerase misincorporation errors, recombination between heteroallelic parents and chemical or physical DNA damage. Highly conserved MutS (MSH) and MutL (MLH/PMS) homologues initiate mismatch repair and, in higher eukaryotes, act as DNA damage sensors that can trigger apoptosis. Defects in human mismatch repair genes cause Lynch syndrome or hereditary non-polyposis colorectal cancer and 10-40% of related sporadic tumours. However, the collaborative mechanics of MSH and MLH/PMS proteins have not been resolved in any organism...
November 16, 2016: Nature
https://www.readbyqxmd.com/read/27826806/uptake-of-prenatal-diagnostic-testing-for-retinoblastoma-compared-to-other-hereditary-cancer-syndromes-in-the-netherlands
#12
Charlotte J Dommering, Lidewij Henneman, Annemarie H van der Hout, Marianne A Jonker, Carli M J Tops, Ans M W van den Ouweland, Rob B van der Luijt, Arjen R Mensenkamp, Frans B L Hogervorst, Egbert J W Redeker, Christine E M de Die-Smulders, Annette C Moll, Hanne Meijers-Heijboer
Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel-Lindau disease (VHL), Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families...
November 8, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27807061/familial-non-medullary-thyroid-cancer-unraveling-the-genetic-maze
#13
REVIEW
Samantha Peiling Yang, Joanne Ngeow
Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. It is important for the clinician to recognize these phenotypes so that genetic counseling and testing can be initiated to enable surveillance for associated malignancies and genetic testing of family members...
December 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27785421/lynch-syndrome-and-exposure-to-aristolochic-acid-in-upper-tract-urothelial-carcinoma-its-clinical-impact
#14
REVIEW
Pierre Colin, Thomas Seisen, Romain Mathieu, Sharohkh F Shariat, Morgan Rouprêt
The purpose of the current review was to describe the clinical risk for Lynch syndrome (LS) after exposure to aristolochic acid (AA) in cases of upper urinary-tract urothelial carcinoma (UTUC). A systematic review of the scientific literature was performed using the Medline database (National Library of Medicine, PubMed) using the following keywords: epidemiology, risk factor, AA, Balkan nephropathy (BNe), LS, hereditary cancer, hereditary non-polyposis colorectal cancer (HNPCC), mismatch repair genes, urothelial carcinomas, upper urinary tract, renal pelvis, ureter, Amsterdam criteria, genetic counselling, mismatch repair genes, genetic instability, microsatellite, and Bethesda guidelines...
October 2016: Translational Andrology and Urology
https://www.readbyqxmd.com/read/27781259/-research-progress-of-serrated-polyposis-syndrome
#15
Shihao Dong, Jingsong Chen
Serrated polyposis syndrome (SPS) is closely associated with the initiation and development of colorectal cancer (CRC), however, there is few research on SPS in China. Serrated polyps can be divided into hyperplastic polyps, sessile serrated polyps and traditional serrated polyps. The diagnosis standard of SPS is as following: (1) There are at least 5 serrated lesions in proximal colon, and diameter of more than 2 lesions is >10 mm; (2) The patient has one serrated polyp with family history of SPS; (3) More than 20 serrated polyps can be found in the entire large bowel...
October 25, 2016: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/27777714/giant-adrenal-cavernous-hemangioma-in-a-patient-with-familial-adenomatous-polyposis
#16
Dhouha Bacha, Abir Chaabane, Fatma Khanche, Saloua Néchi, Hassen Touinsi, Emna Chelbi
Adrenal hemangioma is an uncommon benign vascular tumor that is often discovered incidentally. It has never been reported in association with familial adenomatous polyposis. We report a case of a 60-year old man with a history of familial adenomatous polyposis, in whom a huge retroperitoneal cyst of 18x17 cm was discovered during routine radiologic evaluation. Because of the impossibility of ruling out the presence of malignancy, surgical cystectomy was performed, associated to a scheduled total colectomy. Pathological examination revealed that the cyst corresponded to an adrenal cavernous hemangioma...
August 8, 2016: Clinics and Practice
https://www.readbyqxmd.com/read/27777639/differences-in-neuropsychological-and-behavioral-parameters-and-brain-structure-in-patients-with-familial-adenomatous-polyposis-a-sibling-paired-study
#17
Ana Sánchez Azofra, Trilokesh D Kidambi, Rita J Jeremy, Peggy Conrad, Amie Blanco, Megan Myers, James Barkovich, Jonathan P Terdiman
BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary colon cancer syndrome caused by mutations in adenomatous polyposis coli (APC) with both colonic and extra-colonic manifestations. Case reports have noted an association with FAP and intellectual disability and animal studies have shown that APC is implicated in neural development and function, but no studies have investigated neuropsychological, behavioral, or structural brain characteristics of patients with FAP...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27772883/neoplasia-in-gastric-adenocarcinoma-and-proximal-polyposis-syndrome-gapps-gastric-rather-than-intestinal-phenotype
#18
Priyanthi Kumarasinghe, W Bastiaan de Boer, M Hooi Ee
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27768599/a-role-for-the-vitamin-d-pathway-in-non-intestinal-lesions-in-genetic-and-carcinogen-models-of-colorectal-cancer-and-in-familial-adenomatous-polyposis
#19
Yong-Sik Bong, Shahin Assefnia, Therese Tuohy, Deborah W Neklason, Randall W Burt, Jaeil Ahn, Hao-Wen J Jiang, Stephen W Byers
Vitamin D is implicated in the etiology of cancers of the gastrointestinal tract, usually characterized by alteration in the APC/β-catenin/TCF tumor suppressor pathway. The vitamin D receptor (VDR) is also implicated in cardiovascular and skin diseases as well as in immunity. Activated VDR can indirectly alter β-catenin nuclear localization and directly suppress β-catenin/TCF mediated transcriptional activity. We treated VDR null mice with the carcinogen azoxymethane (AOM) and generated mice bearing a mutated APC (hypomorph) on a VDR null background (Apc1638N/+Vdr-/-)...
October 19, 2016: Oncotarget
https://www.readbyqxmd.com/read/27749478/impact-of-bmi-on-ability-to-successfully-create-an-ipaa
#20
Mohammad A Khasawneh, Nicholas P McKenna, Zaid M Abdelsattar, Angela Johnson, Eric J Dozois, John H Pemberton, Kellie L Mathis
BACKGROUND: IPAA is the surgical treatment of choice for patients with ulcerative colitis. Limited data exist on how obesity impacts the ability of the surgeon to successfully create an IPAA. OBJECTIVE: We aimed to determine how BMI affects the ability to successfully complete the operation. DESIGN: This was a retrospective cohort study. SETTINGS: The study was conducted at a single tertiary care center. PATIENTS: We included all of the patients undergoing an IPAA for ulcerative colitis between January 2002 and August 2013 at our institution...
November 2016: Diseases of the Colon and Rectum
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