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| 1 | Colonic manifestations of PTEN hamartoma tumor syndrome: Case series and systematic review显示文摘AIM:To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten(PTEN)hamartoma tumor syndrome(PHTS)and to perform a systematic literature review regarding the same.METHODS:This study was approved by the appropriate institutional review board prior to initiation.A clinical genetics database was searched for patients with PHTS or a component syndrome that received gastrointestinal endoscopy or pathology interpretation at our center.These patient’s records were retrospectively reviewed for clinical characteristics(including family history and genetic testing),endoscopy results and pathology findings.We also performed a systematic review of the literature for case series of PHTS or component syndromes that reported gastrointestinal manifestations and investigations published after consensus diagnostic criteria were established in 1996.These results were compiled and reported.RESULTS:Eight patients from our institution met initial inclusion criteria.Of these,5 patients underwent4.2 colonoscopies at mean age 45.8±10.8 years.All were found to have colon polyps during their clinical course and polyp histology included adenoma,hyperplastic,ganglioneuroma and juvenile.No malignant lesions were identified.Two had multiple histologic types.One patient underwent colectomy due to innumerable polyps and concern for future malignant potential.Systematic literature review of PHTS patients undergoing endoscopy revealed 107 patients receiving colonoscopy at mean age 37.4 years.Colon polyps were noted in92.5%and multiple colon polyp histologies were reported in 53.6%.Common polyp histologies included hyperplastic(43.6%),adenoma(40.4%),hamartoma(38.3%),ganglioneuroma(33%)and inflammatory(24.5%)polyps.Twelve(11.2%)patients had colorectal cancer at mean age 46.7 years(range 35-62).Clinical outcomes secondary to colon polyposis and malignancy were not commonly reported.CONCLUSION:PHTS has a high prevalence of colon polyposis with multiple histologic types.It should be considered a mixed polyposis syndrome.Systematic review found an increased prevalence of colorectal cancer and we recommend initiating colonoscopy for colorectal cancer surveillance at age 35 years. | Peter P Stanich Robert Pilarski Jonathan Rock Wendy L Frankel Samer El-Dika Marty M Meyer | 2014 | World Journal of Gastroenterology2014，20，7： | 5 |
| 2 | Nat Genet:单基因突变导致过敏性皮炎的发生显示文摘最近,研究者们鉴定出了一类导致神经性皮炎发生的关键基因突变:CARDll。来自美国NIH过敏与传染病研究所的研究者们通过对四个没有血缘关系的患病家庭进行分析,发现了这一导致疾病产生的基因、 | Chi A Ma, Yuan Zhang, Michael A Weinreich, Jonathan J Lyons, Celeste G Nelson, Thomas DiMaggio, Kelly D Stone, Joshua D Milner Jeffrey R Stinson, Elisa Ruffo, Batsukh Dorjbal, Swadhinya Arjunaraja, Kelsey Voss, Andrew L Snow Jordan K Abbott, Pia J Hauk, Paul R Reynolds, Erwin W Gelfand Elisa Ruffo Salomé Glauzy, Natsuko Yamakawa, Eric Meffre Jennifer Stoddard, Julie Niemela, Sergio D Rosenzweig Yu Zhang, Helen F Matthews Joshua J McElwee Nina Jones Alejandro Palma, Matías Oleastro, Emma Prieto, Andrea R Bernasconi, Geronimo Dubra, Silvia Danielian, Jonathan Zaiat, Marcelo A Marti Brian Kim Megan A Cooper Neil Romberg | 2017 | 现代生物医学进展2017，17，27： | 3 |
| 3 | Human Embryonic Stem Cells Derived by Somatic Cell Nuclear Transfer显示文摘 | Masahito Tachibana Paula Amato Michelle Sparman Nuria Marti Gutierrez Rebecca Tippner-Hedges Hong Ma Eunju Kang Alimujiang Fulati Hyo-Sang Lee Hathaitip Sritanaudomchai Keith Masterson Janine Larson Deborah Eaton Karen Sadler-Fredd David Battaglia David L | 2013 | Cell2013，，6： | 2 |
| 4 | Proton shock acceleration in laser-plasma interactions显示文摘 | Silva L O Marti M Davies J R | 2004 | Phys Rev Lett2004，92，01： | 1 |
| 5 | Swine torque teno virus detection in pig commercial vaccines, enzymes for laboratory use and human drugs containing components of porcine origin显示文摘 | KEKARAINEN T MARTI'NEZ-GUINO' L SEGALE' S J | 2009 | J Gen Virol2009，90，3： | 1 |
| 6 | Biotransformation of sevoflurane in dogs and rats 显示文摘 | Lynch S Napoli M D | 1981 | Anesth Analg1981，60，： | 1 |
| 7 | Detection of paraoxon by continuous flow system based enzyme sensor显示文摘 | Eanty G Marty J L | 1998 | Biosensor & Bioelectronics1998，13，2： | 1 |
| 8 | Strictly aerobic and anaerobic associated with sinking particulate matter and zooplankton fecal pellets显示文摘 | Bianchi M Marty D Teyssie J L | 1992 | Marine Ecology Progress Series1992，88，1： | 1 |
| 9 | Semicarbazide sensitive amine oxidase overexpression hasdual consequences : insulin mimicry and diabetes-like complica-tions显示文摘 | Stolen CM Madanat H Marti L Kari S Yegutkin GG Soriola M | 2004 | FASEB J2004，18，6： | 1 |
| 10 | Real-time EMTP-based transients simulation 显示文摘 | Marti J R Linares L R | 1994 | IEEE Trans on Power Systems1994，9，3： | 1 |
| 11 | Anatomic-resolution atomic-force microscopy implemented using an optical level显示文摘 | Hellernans L Marti 0 | 1989 | J Appl Phys1989，65，1： | 1 |
| 12 | Lacunar stroke 显示文摘 | Arboix A Marti Vilalta J L | 2009 | Expert Rev Neurother2009，9，： | 1 |
| 13 | General Expressions for IM/DD Dispersive Analog Optical Links with External Modula- tion or Optical Up - Conversion in a Mach- Zehnder Electroopti- cal Modulator显示文摘 | CORRAL J L MARTI J FUSTER J M | 2001 | IEEE TRANSACTIONS ON MICROWAVE THEORY AND TECHNIQUES2001，49，10： | 1 |
| 14 | Phosphatidilcholine liposomes as vehicles for disperse dyes for dyeing polyester/wool blends显示文摘 | Marti M Coderch L De La Maza A | 1998 | Textile Research Journal1998，68，3： | 1 |
| 15 | Automated detection of chlorpyrifos and its metabolites by a continuous flow systembased enzyme sensor显示文摘 | Jeanty G Ghommidh C Marty J L | 2001 | Analytica Chimica Acta2001，436，1： | 1 |
| 16 | Advanced etching of silicon based on deep reactive ionetching for silicon high aspect ratio microstructures andthree-dimensional micro- and nanostructures 显示文摘 | MARTY F ROUSSEAU L SAADANY B | 2005 | Microelectronics Journal2005，36，7： | 1 |
| 17 | Limiting efficiencies for photovoltaic energy conversion in multigap systems显示文摘 | Marti A Araujo G L | 1996 | Sol Energy Mater Sol Cells1996，43，： | 1 |
| 18 | A high frequency transformers model for the EMTP显示文摘 | Marti L Ottenvangers J | 1993 | IEEE Transactions On Power Delivery1993，8，3： | 1 |
| 19 | Flow analysis for determination of paraoxon with use of immobilized acetylcholinesterase reactor and new type of chemiluminescent reaction显示文摘 | Andrei F Badea M Marty J L | 2000 | Biopolymers2000，57，1： | 1 |
| 20 | Immobilization of acetylcholinesterase on screen-printed electrodes:comparative study between three immobilization methods and applications to the detection of organophosphorus insecticides 显示文摘 | Andreescu S Barthelmebs L Marty J L | 2002 | Analytica Chimica Acta2002，464，2： | 1 |
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