scholarly journals Multiple Adenomatous Duodenal Polyposis

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Zdena Zádorová ◽  
Jan Hajer ◽  
Václav Mandys
Keyword(s):  
High Performance ◽  
Dna Analysis ◽  
Argon Plasma ◽  
Pathogenic Mutation ◽  
Endoscopic Polypectomy ◽  
Digestive Tube ◽  
Rare Finding ◽  
Duodenal Polyps ◽  
Exon 1 ◽  
Duodenal Polyposis

Multiple duodenal polyps are a relatively rare finding, usually co-occurrent with familial adenomatous polyposis (FAP).We report a patient with multiple duodenal adenomas and a negative examination for FAP: multiple flat polyps were detected endoscopically in a 37-year-old male patient, extending from the apex of the bulb to the end of the descending part of the duodenum. In terms of histology, they were tubular adenomas with moderate dysplasia. Colonoscopy and enteroclysis were normal. Both push and capsule enteroscopy only showed multiple polyps in the area of the descending duodenum. DNA analysis of the APC gene was as follows: DGGE, exon 1–15, deletion at codons 1309 and 1061 by means of PCR for attenuated APC were negative. Afterwards we screened the patient for germline MYH mutations using the denaturing high-performance liquid chromatography (DHPLC) in combination with sequencing. No novel pathogenic mutation has been identified. Large polyps were removed by means of endoscopic polypectomy and mucosectomy, while small polyps were removed by means of argon plasma coagulation.We conduct yearly checkups, removing only sporadic polyps. The rare finding of duodenal polyposis not co-occurrent with FAP proves that multiple adenomas in the digestive tube need not necessarily co-occur with FAP.

CRISPR/Cas9-induced β-carotene Hydroxylase Mutation in Dunaliella Salina CCAP19/18

2021 ◽  
Author(s):  
Lina Hu ◽  
Shu ying FENG ◽  
Gaofeng Liang ◽  
Jingxia Du ◽  
Aifang Li ◽  
...  
Keyword(s):  
High Performance ◽  
Dunaliella Salina ◽  
Gene Editing ◽  
Expression System ◽  
Transformation Method ◽  
Practical Significance ◽  
Exon 1 ◽  
Targeted Gene Editing ◽  
Foreign Genes ◽  
Β Carotene

Abstract Dunaliella salina (D. salina) has been exploited as a novel expression system for the field of genetic engineering. However, owing to the low or inconsistent expression of target proteins, it has been greatly restricted to practical production of recombinant proteins. Since the accurate gene editing function of CRISPR/Cas system, β-carotene hydroxylase gene was chosen as an example to explore D. salina application with the purpose of improving expression level of foreign genes. In this paper, based on pKSE401 backbone, three CRISPR/Cas9 binary vectors were constructed to targeting exon 1 and 3 of the β-carotene hydroxylase of D. salina CCAP19/18 (Dschyb). D. salina mutants were obtained by salt gradient transformation method, and the expression of Dschyb gene were identified through real-time fluorescent quantitative PCR. Moreover, carotenoids content was analyzed by high-performance liquid chromatography at different time points after high intensity treatment. Compared with wild type strains, the β-carotene levels of mutants showed a significant increase, nearly up to 1.4 μg/ml, and the levels of zeaxanthin decreased to various degrees in mutants. All the results provide a compelling evidence for targeted gene editing in D. salina. This study gave a first successful gene editing of D. salina which has a very important practical significance for increasing carotene yield and meeting realistic industry demand. Furthermore, it provides an approach to overcome the current obstacles of D. salina, and then gives a strong tool to facilitates the development and application of D. salina system.

scholarly journals Possibilities of different animal milk detection in milk and dairy products – a review

2011 ◽  
Vol 23 (No. 2) ◽  
pp. 41-50 ◽  
Author(s):  
M. Borková ◽  
J. Snášelová
Keyword(s):  
Dairy Products ◽  
High Performance ◽  
Dna Analysis ◽  
Bovine Milk ◽  
Milk Proteins ◽  
Goat Milk ◽  
Milk Adulteration ◽  
Animal Milk ◽  
Food Monitoring ◽  
Milk And Dairy Products

Adulteration of milk and dairy products with different types of milk, other than declared, presents a big problem for food monitoring. The evidence of milk adulteration is a difficult task considering similar compositions of various types of milk. The presented review is therefore focused on the study of the composition of milk from different animal species. The aim is to find a useful marker component for the adulterant detection. The analysis of milk proteins is a suitable solution of this problem. The techniques used for research in this area were also studied. As prospective techniques, immunological techniques and techniques based on DNA analysis are especially considered. The first ones are able to determine 0.5% of different milk adulterant, and the second ones even as little as 0.1%. Reverse-phase high-performance liquid chromatography is successfully applied in the quantitative analysis of individual milk adulterants in samples. The most frequent adulteration of ewe and goat milk is its replacement with less expensive and more plentiful bovine milk. Not so typical adulteration is the presence of goat milk in ewe milk or the detection of bovine milk as adulterant in buffalo mozzarella cheese.  

scholarly journals A Case of Canine Multiple Inflammatory Colorectal Polyps Treated by Endoscopic Polypectomy and Argon Plasma Coagulation

2012 ◽  
Vol 74 (4) ◽  
pp. 503-506 ◽  
Author(s):  
Atsushi TSUKAMOTO ◽  
Koichi OHNO ◽  
Mitsuhiro IRIE ◽  
Aki OHMI ◽  
Shingo MAEDA ◽  
...  
Keyword(s):  
Argon Plasma Coagulation ◽  
Argon Plasma ◽  
Colorectal Polyps ◽  
Endoscopic Polypectomy ◽  
Plasma Coagulation

scholarly journals Inflammatory Duodenal Polyposis Associated with Primary Immunodeficiency Disease: A Novel Case Report

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Irfan Ali Shera ◽  
Sheikh Mudassir Khurshid ◽  
Mohd Shafi Bhat
Keyword(s):  
Primary Immunodeficiency ◽  
Bacterial Infections ◽  
Primary Immunodeficiency Disease ◽  
Lymphoid Hyperplasia ◽  
Rare Entity ◽  
Rare Form ◽  
Duodenal Polyps ◽  
Immunodeficiency Disease ◽  
Common Variable ◽  
Duodenal Polyposis

Agammaglobulinemia is a rare form of B-cell primary immunodeficiency disease characterized by reduced levels of IgG, IgA, or IgM and recurrent bacterial infections. Agammaglobulinemia is most commonly associated with diffuse nodular lymphoid hyperplasia. Duodenal polyps are a rare entity; however, due to wide use of esophagogastroduodenoscopy, incidental diagnosis of duodenal polyps appears to be increasing. Although inflammatory duodenal polyposis has been reported in the literature, its association with common variable immunodeficiency has not been reported till date to the best of our knowledge. We report a case of a 59-year-old male with chronic symptoms of agammaglobulinemia associated with inflammatory duodenal polyposis.

scholarly journals Indonesian Genomic Landscape of Pathogenic Mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Colorectal Cancer

2021 ◽  
Author(s):  
Vania Myralda Giamour Marbun ◽  
Toar Jean Maurice Lalisang ◽  
Linda Erlina
Keyword(s):  
Colorectal Cancer ◽  
Dna Analysis ◽  
Locally Advanced ◽  
Pathogenic Mutation ◽  
Silent Mutation ◽  
Dynamic Features ◽  
Biological Behaviour ◽  
Genomic Landscape ◽  
Diet And Lifestyle ◽  
Generation Sequencing

Abstract Background : Knowing colorectal cancer’s heterogeneity and dynamic features, recognizing its biological behaviour requires detailed identification of mutated genes involved. Colorectal cancer (CRC) requires several mutated genes to occur and those are dissimilar in each person hence essential to be discovered in specific population. Until recently, there is no known study describing genomic landscape of CRC in Indonesian population. This study aims to describe profile of pathogenic mutation of APC, TP53, PIK3CA, KRAS, and MLH1 in CRC patients treated at 3 different hospitals in Jakarta. Methods : This is a descriptive study conducted on CRC patients who underwent neoadjuvant, surgical, and adjuvant therapy at RSCM, RSKJ, and MRCCC in 2017-2018. DNA analysis was performed using next-generation sequencing and aligned against GRCh38. Pathogenic variant was identified using ACMG classification and FATHMM score. Data related to behaviour and survival were collected from medical records. Results : There were total 22 subjects in which APC, TP53, and PIKCA were mutated. KRAS mutation occurred in 64%, while MLH1 in 45%. Five types of mutation were identified, including nonsense, missense, frameshift, splice-site, and silent mutation. There are 4 groups of co-occurring mutations, which are APC, TP53, PIK3CA (triple mutation/TM) alone; TM+KRAS; TM+MLH1; and TM+KRAS+MLH1, presenting different nature and survival. Conclusion : Indonesia having various ethnicities with diverse diet and lifestyle has distinct profile of pathogenic mutation presenting mostly with locally-advanced stage with various outcome and survival rate.

scholarly journals A Rare Manifestation of a Bleeding Tubulovillous Duodenal Polyp Presenting as an Upper Gastrointestinal Hemorrhage

2020 ◽  
Vol 14 (2) ◽  
pp. 361-366
Author(s):  
Yaser Khalid ◽  
Neethi Dasu ◽  
Herman Suga ◽  
Michael Itidiare ◽  
Richard Walters
Keyword(s):  
Gastrointestinal Hemorrhage ◽  
Upper Gastrointestinal Bleeding ◽  
Treatment Options ◽  
Upper Gastrointestinal Hemorrhage ◽  
Duodenal Adenoma ◽  
Tubulovillous Adenoma ◽  
Rare Finding ◽  
Duodenal Polyps ◽  
Rare Manifestation ◽  
Upper Gastrointestinal

Duodenal polyps have been reported in <1.5% of individuals who undergo esophagogastroduodenoscopy (EGD). We present a case of a 76-year-old male with recurrent hematemesis who was found to have an intestinal-type, pedunculated tubulovillous adenoma in the descending duodenum. An isolated occurrence of nonampullary sporadic duodenal adenoma is a rare finding. Presentation as an upper gastrointestinal hemorrhage is also extremely uncommon. Our patient’s polyp was pedunculated, which is atypical, because most sporadic duodenal adenomas are morphologically flat or sessile. The purpose of this case is to present a rare cause of upper gastrointestinal bleeding and to depict characteristics of an isolated duodenal tubulovillous adenoma and its treatment options.

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