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Arun Narayanankutty, Icela Palma-Lara, Gandhi Pavón-Romero, Gloria Pérez-Rubio, Ángel Camarena, Luis M Teran, Ramcés Falfán-Valencia
INTRODUCTION: Aspirin-exacerbated respiratory disease (AERD) refers to the combination of asthma rhinosinusitis and poliposis; ingestion of aspirin or other non-steroid anti-inflammatory drugs exacerbate asthma-like symptoms. The pathogenesis of AERD is unknown, and genetic and environmental factors contribute to the disease. Our objective is identifying polymorphisms associated with susceptibility in a Mexican mestizo population. METHODS: Primarily we performed custom Illumina goldengate array-based genotyping of 1512 SNPs, carefully selected from a variety of acute/chronic inflammatory lung conditions previously reported...
April 2016: Lung
Hristamian Armand, Veselka Hristamian
Case 1--22 year old patient with dense permagnum adult teratoma, ascites, ipsilateral hydro-ureter and hydro-nephrosis, elevated C -125 level a pseudo- military peritoneal spread. Case 2--19 -year old patient with endometrial kystoma, originating at the uterine fundus with with elevated C-125 levels. Case 3--22 year old patient with monstrous tecoma permagnum, ascites and concomitant pleural effusions as in Meigs syndrome. Case 4--66 year old patient, multiparous with granular cell tumor, recurrent uterine bleeds and endometrial poliposis, with ambiguous C-125 level and congenital uterus bicornis bicolis anomaly...
2015: Akusherstvo i Ginekologii︠a︡
Jens De Cock, Federica Zanca, John Canning, Ruben Pauwels, Robert Hermans
OBJECTIVES: To evaluate image quality and radiation dose of a state of the art cone beam computed tomography (CBCT) system and a multislice computed tomography (MSCT) system in patients with sinonasal poliposis. METHODS: In this retrospective study two radiologists evaluated 57 patients with sinonasal poliposis who underwent a CBCT or MSCT sinus examination, along with a control group of 90 patients with normal radiological findings. Tissue doses were measured using a phantom model with thermoluminescent dosimeters (TLD)...
July 2015: European Radiology
Andrea Cavallaro, Angela Russo, Vito Emanuele Catania, Bartolomea Ficili, Fabrizio Romano, Andrea Valentino Failla, Alessandro Cappellani, Ferdinando Cammisuli, Maria Viola, Roberto Madeddu, Vincenzo Trichilo, Massimo Libra, Salvatore Travali
HNPCC is an autosomal inherited cancer syndrome characterized by germinal and somatic mutations of DNA mismatch repair (MMR) genes. The inherited mutation in one allele together with an acquired defect in the other allele of an MMR gene leads to accelerate tumor progression. In this study we analyzed a cohort of 11 subjects belonging to four Sicilian families with HNPCC suspected by molecular analysis of coding regions of hMSH2 (NC_000002) and hMLH1 (NC_000003) genes. Molecular analysis has detected the presence of two mutations in gene MSH2 and one mutation in MHL1 gene...
2014: International Journal of Surgery
Stefan Hauser, Tobias Zahalka, Guido Fechner, Stefan C Müller, Jörg Ellinger
AIM: No reliable biomarker for renal cell carcinoma (RCC) exists. The purpose of this study was to analyze the value of CpG island hypermethylation of cell-free (cf) circulating serum DNA in patients with RCC as a potential biomarker. PATIENTS AND METHODS: In total 35 patients with RCC and 54 healthy individuals were enrolled in this study. Cell-free DNA (cFDNA) in serum was isolated and digested with methylation-sensitive restriction enzymes (Bsh1236I, HpaII and HinP1I) to quantify the amount of methylated Adenomatosis-poliposis-coli gene (APC), Gluthation-a-transferase-protein 1 gene (GSTP1), ARF tumor suppressor protein gene (p14(ARF)), cyclin-dependent kinase inhibitor 2A (p16), Retinoid-acid-receptor-beta gene (RAR-B), RAS-association domain family-1 gene (RASSF1), Tissue inhibitor of metalloproteinase-gene (TIMP3) and Prostaglandin-endoperoxid synthase 2 (PTGS2) DNA fragments...
October 2013: Anticancer Research
S Ozkara, B Sari, A Yesil, A Aktekin, M Sezikli, Z Cetinkaya, F Aker
BACKGROUND AND AIM: Hereditary non-poliposis colorectal cancers exhibit a high rate of microsatellite instability. Comparative studies involving stage and other prognostic parameters demonstrate a better prognosis in the presence of microsatellite instability versus colon cancers without microsatellite instability. METHODS: Our study included 608 cases diagnosed with colorectal adenocarcinoma by our laboratory between 2004-2010. The cases were re-evaluated with respect to criteria defined for MSI, taking into consideration age, anatomic localization, and histopathological criteria...
July 2013: Chirurgia
Aline Garcia Figueiredo Costa, Rayana Ondina Biagioni Costa, Lucinei Roberto de Oliveira, Soraya de Mattos Camargo Grossmann
Gardner's syndrome, an autosomal dominant syndrome, is linked to familial adenomatosis polyposis (FAP), which is known mainly as a colorectal disease. FAP also presents extracolonically as intestinal polyposis, multiple osteomas, cutaneous cysts, or fibromas. This article reports the case of a 66-year-old white woman who was referred to the Oral Medicine Clinic, School of Dentistry, Universidade Vale do Rio Verde, Brazil, for evaluation of multiple sclerotic, asymptomatic masses in the jaws that were observed in a routine periapical radiographic exam by a dentist...
July 2013: General Dentistry
Vinicio A de Jesus Perez, Ke Yuan, Mark E Orcholski, Hirofumi Sawada, Mingming Zhao, Caiyun Grace Li, Nancy F Tojais, Nils Nickel, Viswanathan Rajagopalan, Edda Spiekerkoetter, Lingli Wang, Roop Dutta, Daniel Bernstein, Marlene Rabinovitch
RATIONALE: Pulmonary hypertension (PH) is characterized by progressive elevation in pulmonary pressure and loss of small pulmonary arteries. As bone morphogenetic proteins promote pulmonary angiogenesis by recruiting the Wnt/β-catenin pathway, we proposed that β-catenin activation could reduce loss and induce regeneration of small pulmonary arteries (PAs) and attenuate PH. OBJECTIVE: This study aims to establish the role of β-catenin in protecting the pulmonary endothelium and stimulating compensatory angiogenesis after injury...
December 7, 2012: Circulation Research
Fabian T Schneider, Anne Schänzer, Cathrin J Czupalla, Sonja Thom, Knut Engels, Mirko H H Schmidt, Karl H Plate, Stefan Liebner
Wnt/beta-catenin signaling has been implicated in taste papilla development; however, its role in epithelial maintenance and tumor progression in the adult tongue remains elusive. We show Wnt/beta-catenin pathway activation in reporter mice and by nuclear beta-catenin staining in the epithelium and taste papilla of adult mouse and human tongues. beta-Catenin activation in APC(min/+) mice, which carry a mutation in adenomatous poliposis coli (APC), up-regulates Sonic hedgehog (Shh) and Jagged-2 (JAG2) in the tongue epithelium without formation of squamous cell carcinoma (SCC)...
July 2010: American Journal of Pathology
Ignacio Alfaro, Teresa Ocaña, Antoni Castells, Carmen Cordero, Marta Ponce, Teresa Ramón Y Cajal, Montserrat Andreu, Luis Bujanda, Maite Herráiz, Antonio José Hervás Molina, Fernando Fernández-Bañares, Sabino Riestra-Menéndez, Carla Gargallo, Ana Ruiz, Marco Bustamante, Ignacio Blanco, Fernando Martínez de Juan
BACKGROUND AND OBJECTIVES: Familial adenomatous polyposis is an inherited disorder characterized by the presence of multiple colorectal adenomas (more than 100 in the classic form and between 10 and 100 in the attenuated one), with a high risk of colorectal cancer development. To improve the diagnostic and therapeutic management of these patients, the Spanish Registry of Familial Adenomatous Polyposis was created in 2007.We aimed to evaluate the clinicopathological characteristics of patients with familial adenomatous polyposis in Spain...
June 19, 2010: Medicina Clínica
J A Cienfuegos, J Baixauli, G Zozaya, A Bueno, J Arredondo, F M Regueira, R Angós, J L Hernández-Lizoáin, M A Idoate
The Peutz-Jeghers syndrome (PJS) is an autosomal dominant hamartomatous poliposis describred in 1921. Hemminki in 1997 described the presence of LKB-1 mutation tumor-suppressor gen.The patients with PJS develop a higher cumulative incidence of gastrointestinal, pancreas and extraintestinal tumors, being occasion of a renew interest on hamartomatous polyposis syndromes regarding the clinical care, cancer surveillance treatment and long term follow-up.We report the case of a 38 years old male, diagnosed of PJS who developed a multiple adenocarcinoma in duodenum and yeyunum...
December 2009: Revista Española de Enfermedades Digestivas
Teresa A Zimmers, Juan C Gutierrez, Leonidas G Koniaris
BACKGROUND: Growth-differentiation factor (GDF)-15, a member of the TGF-beta superfamily, is potently induced in the intestine following mechanical injury, genotoxic insult and following non-steroidal anti-inflammatory drugs (NSAIDs) exposure. GDF-15 expression correlates with apoptosis in intestinal cells and has been implicated in the pathogenesis of colorectal cancer formation and the anti-tumor effects of NSAIDs. We sought to determine the effect of loss of Gdf15 on animal tumor models of hereditary colon cancer and in the NSAID-mediated prevention of heritable colorectal cancer...
April 2010: Journal of Cancer Research and Clinical Oncology
J Á Cancino-López, J Garza-Sánchez, D E Dorantes-Díaz, J L Rocha-Ramírez, M F Rojas-Illanes, J W Parrado-Montaño, J M Morales-Olivera
BACKGROUND: The prevalence of colorectal polyps in the general population is 10%. Hormonal alterations in acromegaly stimulates adenomatose polyps development making that increase it prevalence. Colonoscopy has elevated sensibility and specificity in detection of colorectal adenomas. OBJECTIVE: Identify colonic polyps in patients with acromegaly and establish the importance of colonoscopy as a detection method. MATERIAL AND METHODS: Retrospective, observational and descriptive study made in Colon and Rectum Surgery Department from March 2000 to March 2007 in patients with acromegaly and colonoscopy...
April 2009: Revista de Gastroenterología de México
Vittoria Stigliano, Daniela Assisi, Maurizio Cosimelli, Raffaele Palmirotta, Diana Giannarelli, Marcella Mottolese, Lupe Sanchez Mete, Raffaello Mancini, Vincenzo Casale
BACKGROUND: Patients with hereditary non-poliposys colorectal cancer (HNPCC) have better prognosis than sporadic colorectal cancer (CRC). Aim of our retrospective study was to compare the overall survival between sporadic CRC and HNPCC patients. METHODS: We analyzed a cohort of 40 (25 males and 15 females) HNPCC cases with a hospital consecutive series of 573 (312 males and 261 females) sporadic CRC observed during the period 1970-1993. In 15 HNPCC patients we performed mutational analysis for microsatellite instability...
2008: Journal of Experimental & Clinical Cancer Research: CR
M Zikán, L Foretová, D Cibula, J Kotlas, P Pohlreich
OBJECTIVE: This article reviews the topic of hereditary ovarian cancer, describes persons at risk of hereditary disposition to cancer and gives instructions for genetic counselling and molecular analysis, including contacts to specialized centres in the Czech Republic. SUBJECT: Review. SETTING: Institute of Biochemistry and Experimental Oncology, Charles University in Prague. METHODS: Hereditary ovarian cancer occurs in three autosomal dominant syndromes: appropriate hereditary ovarian cancer (HOC), hereditary breast and ovarian cancer (HBOC) and hereditary non-poliposis colorectal cancer (HNPCC)...
May 2006: Ceská Gynekologie
V Zlatkov, G Bŭrzakov, A Cholakova, V Miloshov, V Radeva, E Velinov, A Mikhova
The aim of the present study was to evaluate the possibilities of diagnostic flexible hysteroscopy for women with irregular uterine bleeding. The study was based on 569 women aged between 26 and 72 years (mean age 46.78 years) with weak to moderate irregular uterine bleeding who had given agreement for invasive investigations. To all patients initially was performed diagnostic hysteroscopy with the help of a panoramic fibrohysteroscope Pentax LH-150 II (with 5 mm diameter), followed by classical endometrial curettage...
2006: Akusherstvo i Ginekologii︠a︡
Jessica Dessimoz, Anne Grapin-Botton
Beta-catenin and Adenomatous poliposis coli (APC) have been implicated in non-ductal pancreatic cancers. As for many other organs, several recent publications show that beta-catenin and more largely the Wnt pathway appear to function at the level of pancreatic progenitors and endocrine cells during organogenesis. This raises the question of the cell type in which beta-catenin is mutated during tumor formation in acinar cell carcinomas, pancreatoblastomas and solid cystic papillary tumors of the pancreas.
January 2006: Cell Cycle
A Toledano, E González, G Rodríguez, A N Galindo
OBJECTIVE: To create a screening olfactory test based on the CCCRC (Connecticut Chemosen-sory Clinical Research Center). MATERIAL AND METHODS: We compare the screening test based on CCCRC with PST (Pocket Smell Test) based on UPSIT in 40 patients with nasal poliposis, in order to de-termine the specificity, sensitivity, positive predictive and negative predictive value. The validity index was 95% and accuracy rate was 10%. We determine unit cost, the time required to perform the test in outpatients office and how difficult it is to do the test...
March 2005: Acta Otorrinolaringológica Española
Akiteru Goto, Jun Nakajima, Kei Hara, Toshiro Niki, Masashi Fukayama
A 46-year-old man presented with a lung tumor 17 years after a subtotal colectomy and 13 years after a partial duodenectomy for familial adenomatous polyposis (FAP). There had been no malignant transformation in the specimens from his colectomy and duodenectomy, and a current gastrointestinal investigation revealed no evidence of malignancy. Pathological analysis of the lung tumor demonstrated adenocarcinoma with clear cells and a papillary structure, accompanied by tiny tumorous nodules in the background lung parenchyma...
January 2005: Virchows Archiv: An International Journal of Pathology
Aldo F De Rose, Matteo Giglio, Fabrizio Gallo, Luca Romano, Giorgio Carmignani
In a meaningful proportion of cases, CBAVD has been recognised as a probable consequence of cftr gene mutations. This lead to a further enlargement of the spectrum of clinical pictures due to "cftr deficiency". More recently, the identification of a polymorphism in intron 8 regulating the level of correct cftr transcription, shed new light on the genotype-fenotype correlation of cftr mutations. Unfortunately, little information is still available on the clinical manifestations of CBAVD other than infertility...
December 2003: Archivio Italiano di Urologia, Andrologia
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