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| 1 | Congenital diarrhea in a newborn infant: A case report显示文摘BACKGROUND Microvillus inclusion disease(MVID)is a rare autosomal recessive cause of severe congenital diarrhea with significant morbidity and mortality.Definitive treatment involves bowel transplant.The diagnosis of this condition can be challenging and a few genetic panels are available for the identification of the most common mutations.We present the case of an infant with MVID due to a mutation not reported in the literature before.CASE SUMMARY We report the case of an infant transferred to our institution with severe diarrhea of unknown etiology,failure to thrive,and significant metabolic derangements.An extensive work-up including stool studies for common gastrointestinal pathogens,abdominal ultrasound,esophagogastroduodenoscopy with duodenal biopsy and flexible sigmoidoscopy failed to reveal a diagnosis.Multiple dietary and formula regimens were introduced but all resulted in voluminous diarrhea.She remained on total parenteral nutrition(TPN)for the duration of her hospital stay.Genetic testing was done and she was subsequently found to have a novel mutation in the MYO5B gene[homozygous mutation for MYO5B c.1462del,p.(Ile488Leufs*93)]giving us the diagnosis of MVID.She remains on TPN while awaiting bowel transplant at the time of the compilation of this case report.CONCLUSION We report a novel mutation involved in MVID and highlight the importance of considering this disease when faced with a newborn presenting with life threatening diarrhea.At the time of this publication,232 allelic variations of this gene(MIM#606540)exist in National Center for Biotechnology Information’s database.Our patient’s mutation has not been reported in literature as a cause of MVID. | Mehrin Sadiq Omer Choudry Arun K Kashyap Danitza M Velazquez | 2019 | World Journal of Clinical Pediatrics2019，8，3： | 3 |
| 2 | Reinterpretation of histology of proximal colon polyps called hyperplastic in 2001显示文摘AIM: To evaluate how proximal colon polyps interpreted as hyperplastic polyps in 2001 would be interpreted by expert pathologists in 2007. METHODS: Forty consecutive proximal colon polyps ≥ 5 mm in size, removed in 2001, and originally interpreted as hyperplastic polyps by general pathologists at Indiana University, were reviewed in 2007 by 3 GI pathologists. RESULTS: The gastrointestinal (GI) pathologists interpreted 85%, 43% and 30% of the polyps as sessile serrated polyps (sessile serrated adenomas). The overall Kappa was 0.16. When diagnoses were compared in pairs, Kappa values were 0.38 and 0.25 (fair agreement) and 0.14 (slight agreement). CONCLUSION: Many polyps interpreted as hyperplastic in 2001 were considered sessile serrated lesions by GI pathologists in 2007, but there is substantial inter-observer variation amongst GI pathologists. | Omer Khalid Sofyan Radaideh Oscar W Cummings Michael J O'Brien John R Goldblum Douglas K Rex | 2009 | World Journal of Gastroenterology2009，15，30： | 3 |
| 3 | Multi-objective fuzzy optimization of space trusses by Ms-Excel显示文摘 | OMER K MEHMET U | 2005 | Advances in Engineering Software2005，36，8： | 1 |
| 4 | Vulvar syringoma exacerbated during pregnancy显示文摘 | Cem Turan Mustafa Ugur Lale Kutluay Selahattin Kükner Tülin Dabakoglu Tugrul Aydogdu Yusuf Ergün Omer Cobanoglu | 1996 | European Journal of Obstetrics and Gynecology1996，，1： | 1 |
| 5 | Acute respiratory failure and tracheal obstruction in patients with posterior giant mediastinal (intrathoracic) goiter 显示文摘 | SERAP K OMER O TULAY O | 2004 | Inter Card ThorSurg2004，3，： | 1 |
| 6 | Predicting Bank Financial Failures Using Neural Networks, Support Vector Machines and Multivariate Statistical Methods 显示文摘 | A B Melek K Yakup Omer K B | 2009 | Expert Systems with Applications2009，36，2： | 1 |
| 7 | Production of bacterial cellulose by Gluconacetobacter hasenii using a new bioreactor equipped with centrifugal impeller显示文摘 | Joong K P Omer S Taous K | 2007 | Korean Journal of Chemical Engineering2007，24，2： | 1 |
| 8 | Colloidal silver nanoparticles stailized by a water- soluble triosmium cluster显示文摘 | Omer M Ahmed E Leong W K | 2006 | Journal of Organometallic Chemistry2006，691，5： | 1 |
| 9 | Microbiological food safety assessment of high hydrostatic pressure processing: A review显示文摘 | Rendueles E Omer M K Alvseike O | 2011 | LWT-Food Science and Technology2011，44，： | 1 |
| 10 | Efficacy of marbofloxacin for naturally occurring contagious caprine pleuropneumonia 显示文摘 | Engin B Omer K Tolga K | 2008 | Small Ruminant Research2008，77，1： | 1 |
| 11 | Electrochemistry and electrogenerated chemiluminescence of quinoxaline derivatives 显示文摘 | IZADYAR A OMER K M LIU Y | 2008 | J Phys Chem C2008，112，20： | 1 |
| 12 | Fracture mechanisms of offset rock joints-A laboratory investigation显示文摘 | OMER M ABDEL K U | 2004 | Geotechnical and Geological Engineering2004，22，： | 1 |
| 13 | Reduction of COD in wastewater from an organized tannery industrial region by Electro-Fenton process显示文摘 | Ugur K Omer A Talha G M | 2007 | J Hazar Mater2007，143，： | 1 |
| 14 | Assessing Risks due to Threats to Internal Control in a Computer-Based Accounting Information System:A Pragmatic Approach Based on Fuzzy Set Theory显示文摘 | Korvin A.D Shipley M Omer K | | 0，，12： | 1 |
| 15 | Soft tissue contractures in clubfoot: An immunohistochemical study显示文摘 | Lokman K Erhan Y Omer A | 2004 | Arthrop Arthrosco Surg2004，15，1： | 1 |
| 16 | Microbiological food safety assessment of high hydrostatic pressure processing, A review显示文摘 | Rendueles E Omer M K Alvseike O | 2011 | Food Science and Technology2011，44，： | 1 |
| 17 | Exploring the routing strategies in nextgeneration satellite networks 显示文摘 | Fatih A Abbas J omer K | 2007 | IEEE Wireless Communications2007，2007，： | 1 |
| 18 | Ductoscopy in the Evaluation and Management of Nipple Discharge 显示文摘 | Sedat K Omer B Mehmet T | 2010 | Ann Surg Oncol2010，17，： | 1 |
| 19 | Microbiological food safety assessment of high hydrostatic pressure processing : A review显示文摘 | Rendueles E Omer M K Alvseike O | 2011 | LWT2011，44，2： | 1 |
| 20 | Efficacy of marbo-floxacin for naturally occurring contagious caprine pleuropneumonia 显示文摘 | Engin B Omer K Tolga K | 2008 | Small Ruminant Research2008，77，1： | 1 |
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