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  • 1
    In: Yonsei Medical Journal, XMLink, Vol. 57, No. 6 ( 2016), p. 1376-
    Type of Medium: Online Resource
    ISSN: 0513-5796 , 1976-2437
    Language: English
    Publisher: XMLink
    Publication Date: 2016
    detail.hit.zdb_id: 2084860-2
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  • 2
    In: Diseases of the Colon & Rectum, Ovid Technologies (Wolters Kluwer Health), Vol. 65, No. 6 ( 2022-06), p. 793-803
    Abstract: The genetic test solely based on the clinical features of hereditary colorectal cancer has limitations in clinical practice. OBJECTIVE: This study aimed to analyze the results of comprehensive multigene panel tests based on clinical findings. DESIGN: This was a cross-sectional study based on a prospectively compiled database. SETTING: The study was conducted at a tertiary hospital. PATIENTS: A total of 381 patients with high risk for hereditary colorectal cancer syndromes were enrolled between March 2014 and December 2019. MAIN OUTCOME MEASURES: The primary outcome was to describe the mutational spectrum based on genotype-phenotype concordance and discordance. RESULTS: Germline mutations were identified in 89 patients for polyposis hereditary colorectal cancer genes (76 in APC ; 4 in PTEN ; 4 in STK11 ; 3 in BMPR1A ; 1 in POLE ; 1 in POLD1 ), 89 patients for nonpolyposis hereditary colorectal cancer genes (41 in MLH1 ; 40 in MSH2 ; 6 in MSH6 ; and 2 in PMS2 ), and 12 patients for other cancer predisposition genes (1 in ATM ; 2 in BRCA1 ; 1 in BRCA2 ; 1 in BRIP1 ; 1 in MLH3 ; 1 in NBN ; 1 in PMS1 ; 1 in PTCH1 ; 1 in TP53 ; and 2 in monoallelic MUTYH ). If we had used direct sequencing tests of 1 or 2 major genes based on phenotype, 48 (25.3%) of 190 mutations would not have been detected due to technical differences (12.1%), less frequent genotype (4.2%), unclear phenotype (3.7%), and genotype-phenotype discordance (4.7%). The genotype-phenotype discordance is probably linked to compound heterozygote, less distinctive phenotype, and insufficient information for colorectal cancer risk. LIMITATIONS: This study included a small number of patients with insufficient follow-up duration. CONCLUSIONS: A comprehensive multigene panel is expected to identify more genetic mutations than phenotype-based direct sequencing, with special utility for unclear phenotype or genotype-phenotype discordance. See Video Abstract at http://links.lww.com/DCR/B844. APLICACIÓN DE PRUEBAS DE PANEL MULTIGÉNICO EN PACIENTES CON ALTO RIESGO DE CÁNCER COLORRECTAL HEREDITARIO: INFORME DESCRIPTIVO ENFOCADO EN LA CORRELACIÓN GENOTIPO-FENOTIPO ANTECEDENTES: La prueba genética basada únicamente en la característica clínica del cáncer colorrectal hereditario tiene limitaciones en la práctica clínica. OBJETIVO: Este estudio tuvo como objetivo analizar el resultado de pruebas integrales de panel multigénico basadas en hallazgos clínicos. DISEÑO: Este fue un estudio transversal basado en una base de datos recopilada prospectivamente. AJUSTE: El estudio se realizó en un hospital terciario. PACIENTES: Se inscribió un total de 381 pacientes con alto riesgo de síndromes de cáncer colorrectal hereditario entre marzo del 2014 y diciembre del 2019. PRINCIPALES MEDIDAS DE RESULTADO: El resultado principal fue describir el espectro mutacional basado en la concordancia y discordancia genotipo-fenotipo. RESULTADOS: Se identificaron mutaciones de la línea germinal en 89 pacientes para genes de cáncer colorrectal hereditario con poliposis (76 en APC; 4 en PTEN; 4 en STK11; 3 en BMPR1A; 1 en POLE; 1 en POLD1), 89 pacientes para genes de CCR hereditario sin poliposis (41 en MLH1; 40 en MSH2; 6 en MSH6; y 2 ​​en PMS2) y 12 pacientes por otro gen de predisposición al cáncer (1 en ATM; 2 en BRCA1; 1 en BRCA2; 1 en BRIP1; 1 en MLH3; 1 en NBN; 1 en PMS1; 1 en PTCH1; 1 en TP53; y 2 ​​en MUTYH monoalélico). Si hubiéramos utilizado pruebas de secuenciación directa de uno o dos genes principales basados ​​en el fenotipo, 48 (25,3%) de 190 mutaciones no se habrían detectado debido a diferencias técnicas (12,1%), genotipo menos frecuente (4,2%), fenotipo poco claro (3,7%) y discordancia genotipo-fenotipo (4,7%). La discordancia genotipo-fenotipo probablemente esté relacionada con el heterocigoto compuesto, el fenotipo menos distintivo y la información insuficiente para el riesgo de cáncer colorrectal. LIMITACIONES: Este estudio incluyó una pequeña cantidad de pacientes con una duración de seguimiento insuficiente. CONCLUSIONES: Se espera que un panel multigénico completo identifique más mutaciones genéticas que la secuenciación directa basada en el fenotipo, con especial utilidad para la discordancia de fenotipo o genotipo-fenotipo poco clara. Consulte Video Resumen en http://links.lww.com/DCR/B844. Traducción— Dr. Francisco M. Abarca-Rendon )
    Type of Medium: Online Resource
    ISSN: 0012-3706
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2022
    detail.hit.zdb_id: 2046914-7
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  • 3
    In: Gastrointestinal Endoscopy, Elsevier BV, Vol. 77, No. 5 ( 2013-5), p. AB564-AB565
    Type of Medium: Online Resource
    ISSN: 0016-5107
    RVK:
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2013
    detail.hit.zdb_id: 2006253-9
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  • 4
    Online Resource
    Online Resource
    Ovid Technologies (Wolters Kluwer Health) ; 2020
    In:  Diseases of the Colon & Rectum Vol. 63, No. 6 ( 2020-06), p. 758-768
    In: Diseases of the Colon & Rectum, Ovid Technologies (Wolters Kluwer Health), Vol. 63, No. 6 ( 2020-06), p. 758-768
    Abstract: Metformin may reduce cancer risk and mortality and improve radiotherapy responses in several malignancies. OBJECTIVE: This study aimed to compare tumor responses and prognoses of metformin and nonmetformin groups of diabetic patients receiving neoadjuvant concurrent chemoradiotherapy for rectal cancer. DESIGN: This is a retrospective study. SETTING: This study was conducted at a single institution in the Republic of Korea. PATIENTS: Between January 2000 and November 2017, 104 patients with rectal cancer who were taking diabetes medication and treated with neoadjuvant concurrent chemoradiotherapy followed by radical surgery were reviewed. Patients were divided into those taking (n = 62) and not taking metformin (n = 42). Tumor responses, survival, and other outcomes were analyzed. MAIN OUTCOME MEASURES: Tumor response, rectal cancer-specific survival, and disease-free survival rates were measured. RESULTS: Tumor regression grade ( p = 0.002), pathological complete response ( p = 0.037), and N downstaging ( p 〈 0.001) after neoadjuvant concurrent chemoradiotherapy were significantly higher in the metformin group than in the nonmetformin group. In analysis of cancer-specific mortality, metformin use, differentiation (well, moderate vs poor), pathological Union for International Cancer Control stage (3 vs 1–2), ypN stage (1–2 vs 0), and N downstaging (HR, 0.256 (95% CI, 0.082–0.794), p = 0.018; HR, 0.147 (95% CI, 0.031–0.697), p = 0.016; HR, 3.693 (95% CI, 1.283–10.635), p = 0.015; HR, 3.181 (95% CI, 1.155–8.759), p = 0.025, and HR, 0.175 (95% CI, 0.040–0.769), p = 0.021) were significant factors related to mortality in diabetic patients with rectal cancer. In addition, in the multivariate analysis of cancer recurrence, the interaction between metformin use and lymph node downstaging was a significant predictive factor (HR, 0.222 (95% CI, 0.077–0.639); p = 0.005). LIMITATIONS: This was a small retrospective study conducted at a single institution. CONCLUSIONS: Metformin use was associated with better tumor responses and cancer-specific survival, as well as a lower risk of cancer recurrence, in patients with diabetes mellitus who had lymph node downstaging after neoadjuvant concurrent chemoradiotherapy in rectal cancer. See Video Abstract at http://links.lww.com/DCR/B185. BENEFICIO EN SUPERVIVENCIA CON METFORMINA A TRAVÉS DE UNA MEJOR RESPUESTA TUMORAL CON QUIMIORRADIOTERAPIA CONCURRENTE NEOADYUVANTE EN CÁNCER RECTAL ANTECEDENTES: La metformina puede reducir el riesgo de cáncer y la mortalidad y mejorar las respuestas a la radioterapia en varios tumores malignos. OBJETIVO: Comparar las respuestas tumorales y los pronósticos de los grupos con metformina y sin metformina de pacientes diabéticos que reciben quimiorradioterapia concurrente neoadyuvante para cáncer de recto. DISEÑO: Estudio retrospectivo. ESCENARIO: Institución única en la República de Corea. PACIENTES: Se revisaron 104 pacientes entre enero de 2000 y noviembre de 2017, con cáncer rectal que tomaban medicamentos para diabetes y que fueron tratados con quimiorradioterapia concurrente neoadyuvante seguida de cirugía radical. Los pacientes se dividieron en aquellos que tomaban (n = 62) y los que no tomaban metformina (n = 42). Se analizaron las respuestas tumorales, la supervivencia y otros resultados. PRINCIPALES MEDIDAS DE RESULTADO: Se midieron las tasas de la respuesta tumoral, la supervivencia específica de cáncer rectal y de la supervivencia libre de enfermedad. RESULTADOS: El grado de regresión tumoral ( p = 0.002), la remisión patológica completa ( p = 0.037) y la reducción de la etapa N ( p 〈 0.001) después de la quimiorradioterapia concurrente neoadyuvante fueron significativamente mayores en el grupo de metformina que en el grupo sin metformina. En el análisis de la mortalidad específica por cáncer, el uso de metformina, la diferenciación (bien, moderada vs pobre), el estadio patológico UICC (3 vs 1–2), el estadio ypN (1–2 vs 0) y la disminución de la etapa N (hazard ratios [intervalos de confianza 95%]: 0.256 [0.082–0.794] , p = 0.018; 0.147 [0.031–0.697], p = 0.016; 3.693 [1.283–10.635], p = 0.015; 3.181 [1.155–8.759], p = 0.025 y 0.175 [0.040–0.769], p = 0.021, respectivamente) fueron factores significativos relacionados con la mortalidad en pacientes diabéticos con cáncer rectal. Adicionalmente, en el análisis multivariado de la recurrencia del cáncer, la interacción entre el uso de metformina y la disminución de la etapa ganglionar (N) fue un factor predictivo significativo (hazard ratios [intervalos de confianza del 95%]: 0.222 [0.077–0.639] ; p = 0.005). LIMITACIONES: Este fue un estudio retrospectivo pequeño realizado en un solo instituto. CONCLUSIONES: El uso de metformina se asoció con mejores respuestas tumorales y supervivencia específica de cáncer, así como un menor riesgo de recurrencia del cáncer, en pacientes con disminución de la etapa ganglionar (N) después de quimiorradioterapia concurrente neoadyuvante en pacientes con cáncer rectal y diabetes. Consulte Video Resumen en http://links.lww.com/DCR/B185. (Traducción—Dr. Jorge Silva Velazco)
    Type of Medium: Online Resource
    ISSN: 0012-3706
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2020
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  • 5
    In: Journal of Gastroenterology and Hepatology, Wiley, Vol. 30, No. 10 ( 2015-10), p. 1499-1506
    Abstract: Post‐polypectomy bleeding ( PPB ) is the most common adverse event of colonoscopic polypectomy, especially in cases with large pedunculated polyps. To minimize the risk of PPB , several endoscopic preventive methods have been performed. The aim of this prospective, randomized study was to compare the rates of PPB following single (clipping alone) and combined (clipping plus epinephrine‐saline injection) methods in prevention of PPB in large pedunculated polyps. Methods Adult patients with pedunculated colorectal polyps with heads ≥ 10 mm were prospectively enrolled from M arch 2011 to J anuary 2013. Patients were randomized to receive treatment of either clips alone (group A) or clips plus injection of epinephrine‐saline (group B) prior to a conventional polypectomy. PPB rate in both groups were compared. Results A total of 148 patients with 173 pedunculated colorectal polyps were enrolled. Groups A and B each had 74 patients, with 83 and 90 polyps, respectively. The mean head diameters were 17.2 ± 6.6 and 17.5 ± 6.7 mm in groups A and B, respectively ( P  = 0.748). Immediate PPB ( IPPB ) occurred in 10 cases (12.0%) from group A and 13 cases (14.4%) from group B ( P  = 0.64). There were no cases of delayed PPB or perforation. Multivariate analysis showed that inadequate bowel preparation and large head diameter of polyp were independent risk factors for IPPB . Conclusions The rate of IPPB is relatively high in cases with large pedunculated polyps, but these polyps can be successfully resected by snare polypectomy following use of the single prophylactic clipping method.
    Type of Medium: Online Resource
    ISSN: 0815-9319 , 1440-1746
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2015
    detail.hit.zdb_id: 2006782-3
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  • 6
    Online Resource
    Online Resource
    Baishideng Publishing Group Inc. ; 2017
    In:  World Journal of Gastroenterology Vol. 23, No. 28 ( 2017), p. 5196-
    In: World Journal of Gastroenterology, Baishideng Publishing Group Inc., Vol. 23, No. 28 ( 2017), p. 5196-
    Type of Medium: Online Resource
    ISSN: 1007-9327
    Language: English
    Publisher: Baishideng Publishing Group Inc.
    Publication Date: 2017
    detail.hit.zdb_id: 2084831-6
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  • 7
    In: BMC Gastroenterology, Springer Science and Business Media LLC, Vol. 21, No. 1 ( 2021-12)
    Abstract: Patients with intestinal Behçet’s disease (BD) frequently undergo intestinal resections, which significantly affects postoperative morbidity and mortality. The aim of this study was to identify the association between C-reactive protein (CRP) levels and postoperative outcomes in patients with intestinal BD who underwent surgical bowel resection. Methods Patients who were diagnosed with intestinal BD and underwent intestinal surgery due to BD at Severance Hospital between November 2005 and April 2018 were retrospectively investigated. Clinical relapse was defined as a disease activity index of BD (DAIBD)  〉  40, existence of newly added medications, re-hospitalization, or re-operation related to intestinal BD. The relationship between CRP level and postoperative outcomes was analyzed, and a receiver operating characteristic (ROC) curve was drawn to specify a cut-off value. Results Ninety patients with intestinal BD were included. Among them, 44 were male (48.9%), and the median age at diagnosis was 38 years (range, 11–69 years). The median total disease follow-up duration was 130 months (range, 3–460 months). Forty patients (44.4%) underwent laparoscopic surgery. A higher CRP level immediately after surgery was significantly associated with postoperative complications (OR 1.01, 95% CI 1.004–1.018, p   〈  0.01), re-operation (hazard ratio [HR] 1.01, 95% CI 1.005–1.020, p   〈  0.01), and re-admission (HR 1.01, 95% CI 1.006–1.017 p  〈  0.01). The ROC curve showed that CRP predicts the risk of postoperative complications ( p   〈  0.01) at a cut-off value of 41.9% with a sensitivity of 60.0% and specificity of 67.7%. Conclusions Postoperative CRP levels in patients with intestinal BD undergoing surgical resection were associated with postoperative outcomes.
    Type of Medium: Online Resource
    ISSN: 1471-230X
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2041351-8
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  • 8
    In: Inflammatory Bowel Diseases, Oxford University Press (OUP), Vol. 22, No. 4 ( 2016-04), p. 796-806
    Type of Medium: Online Resource
    ISSN: 1078-0998
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2016
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  • 9
    Online Resource
    Online Resource
    The Editorial Office of Gut and Liver ; 2022
    In:  Gut and Liver Vol. 16, No. 1 ( 2022-01-15), p. 53-61
    In: Gut and Liver, The Editorial Office of Gut and Liver, Vol. 16, No. 1 ( 2022-01-15), p. 53-61
    Type of Medium: Online Resource
    ISSN: 1976-2283 , 2005-1212
    Language: English
    Publisher: The Editorial Office of Gut and Liver
    Publication Date: 2022
    detail.hit.zdb_id: 2536214-8
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  • 10
    Online Resource
    Online Resource
    The Editorial Office of Gut and Liver ; 2018
    In:  Gut and Liver Vol. 12, No. 6 ( 2018-11-15), p. 674-681
    In: Gut and Liver, The Editorial Office of Gut and Liver, Vol. 12, No. 6 ( 2018-11-15), p. 674-681
    Type of Medium: Online Resource
    ISSN: 1976-2283 , 2005-1212
    Language: English
    Publisher: The Editorial Office of Gut and Liver
    Publication Date: 2018
    detail.hit.zdb_id: 2536214-8
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