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1.
JACC Case Rep ; 4(7): 433-437, 2022 Apr 06.
Artículo en Inglés | MEDLINE | ID: mdl-35693901

RESUMEN

We present the case of a woman with upper gastrointestinal bleeding secondary to gastric varices requiring endoscopic cyanoacrylate glue and coil embolization. The procedure was complicated by regular, wide-complex tachycardia, with further investigation revealing cardiopulmonary migration of the glue and coil. (Level of Difficulty: Advanced.).

2.
VideoGIE ; 7(1): 33-35, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-35059538

RESUMEN

Video 1Balloon tamponade for control of bleeding during peroral endoscopic myotomy.

3.
Pancreas ; 50(4): 602-606, 2021 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-33939675

RESUMEN

OBJECTIVES: Up to 15% of pancreatic cancer is hereditary. We aim to study the prevalence of pathogenic germline variants (PGVs) in patients referred for genetic counseling with a family history (FH) of pancreatic cancer. METHODS: We performed a retrospective single institution cohort study of individuals who underwent cancer genetic counseling with a FH of pancreatic cancer. RESULTS: We identified 314 patients. Genetic testing was performed in 291 (92.7%) and 187 (59.6%) underwent expanded multigene panel testing. Fifty-four PGVs were found in 53 (16.9%) individuals; PGVs in BRCA1/2 (37%) were most common. Seventy-two variants of uncertain significance (VUS) were found in 58 (18.5%) individuals; VUS in ATM (16.7%) were the most common. Of the 112 (35.4%) with a first-degree family member with pancreatic cancer, 14 PGVs were identified in 14 (12.5%) individuals and 28 VUS were identified in 21 (18.8%) individuals. After genetic testing, 47 (15.0%) individuals met International Cancer of the Pancreas Screening criteria and 67 (21.3%) met American College of Gastroenterology criteria for pancreatic surveillance. CONCLUSIONS: Genetic testing of individuals with a FH of pancreatic cancer represents an opportunity to identify individuals who may be candidates for pancreatic surveillance.


Asunto(s)
Salud de la Familia , Predisposición Genética a la Enfermedad/genética , Pruebas Genéticas/métodos , Mutación de Línea Germinal , Neoplasias Pancreáticas/genética , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Pancreáticas/diagnóstico , Estudios Retrospectivos , Factores de Riesgo
4.
Gut Liver ; 11(6): 761-770, 2017 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-28609837

RESUMEN

Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage of presentation and suboptimal treatment regimens. Approximately 10% of PC cases have a familial basis. The major genetic defect has yet to be identified but may be inherited by an autosomal dominant pattern with reduced penetrance. Several known hereditary syndromes or genes are associated with an increased risk of developing PC and account for approximately 2% of PCs. These syndromes include the hereditary breast-ovarian cancer syndrome, Peutz-Jeghers syndrome, familial atypical multiple mole melanoma, Lynch syndrome, familial polyposis, ataxia-telangiectasia, and hereditary pancreatitis. Appropriate screening using methods such as biomarkers or imaging, with endoscopic ultrasound and magnetic resonance imaging, may assist in the early detection of neoplastic lesions in the high-risk population. If these lesions are detected and treated before the development of invasive carcinoma, PC disease morbidity and mortality may be improved. This review will focus on familial PC and other hereditary syndromes implicated in the increased risk of PC; it will also highlight current screening methods and the future of new screening modalities.


Asunto(s)
Carcinoma/diagnóstico , Detección Precoz del Cáncer/tendencias , Predicción , Síndromes Neoplásicos Hereditarios/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Carcinoma/genética , Detección Precoz del Cáncer/métodos , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Síndromes Neoplásicos Hereditarios/genética , Neoplasias Pancreáticas/genética , Medición de Riesgo , Factores de Riesgo
5.
Hum Pathol ; 45(10): 2029-36, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25150747

RESUMEN

Immunohistochemistry (IHC) testing for mismatch repair proteins (MMRP) is currently being used primarily in colorectal cancer resection specimens. We aimed to compare the results of IHC staining performed on biopsy specimens obtained at endoscopy with that performed on surgical specimens after neoadjuvant therapy. Thirty-two rectal cancer subjects had paired preneoadjuvant and postneoadjuvant tissue available for IHC staining (MLH1, MSH2, MSH6, and PMS2), whereas 39 rectosigmoid cancer patients who did not receive neoadjuvant treatment served as controls. Each slide received a qualitative (absent, focal, and strong) and quantitative score (immunoreactivity [0-3] × percent positivity [0-4]). The quantitative scores of MMRP from the operative material were significantly lower in the neoadjuvant group than in the control (P < .05 for all).The scores of all MMRP from endoscopic biopsies were not significantly different between the neoadjuvant and the control groups. Disagreement between the endoscopic biopsy and the operative material was evident in 23 of 128 stains (18.5%) in the neoadjuvant group and in 12 of 156 stains (7.7%) in the control group (P = .009). In the neoadjuvant group, a disagreement pattern of "endoscopic strong operative focal" was observed in 28.1% for PMS2, 12.5% for MSH6, 12.5% for MLH1, and 6.3% for MSH2, and in the control group, this same disagreement pattern was found in 12.8% for PMS2, 7.7% for MSH6, 7.7% for MLH1, and 0% for MSH2. Based on our findings, we suggest that for rectal cancer, the endoscopic material rather than the operative material should serve as the primary material for IHC staining.


Asunto(s)
Neoplasias Colorrectales/genética , Reparación de la Incompatibilidad de ADN , Inmunohistoquímica/normas , Terapia Neoadyuvante , Proteínas de Neoplasias/análisis , Proteínas Adaptadoras Transductoras de Señales/análisis , Proteínas Adaptadoras Transductoras de Señales/efectos de los fármacos , Proteínas Adaptadoras Transductoras de Señales/efectos de la radiación , Adenosina Trifosfatasas/análisis , Adenosina Trifosfatasas/efectos de los fármacos , Adenosina Trifosfatasas/efectos de la radiación , Anciano , Quimioradioterapia , Neoplasias Colorrectales/terapia , Enzimas Reparadoras del ADN/análisis , Enzimas Reparadoras del ADN/efectos de los fármacos , Enzimas Reparadoras del ADN/efectos de la radiación , Proteínas de Unión al ADN/análisis , Proteínas de Unión al ADN/efectos de los fármacos , Proteínas de Unión al ADN/efectos de la radiación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto , Homólogo 1 de la Proteína MutL , Proteína 2 Homóloga a MutS/análisis , Proteína 2 Homóloga a MutS/efectos de los fármacos , Proteína 2 Homóloga a MutS/efectos de la radiación , Proteínas de Neoplasias/efectos de los fármacos , Proteínas de Neoplasias/efectos de la radiación , Proteínas Nucleares/análisis , Proteínas Nucleares/efectos de los fármacos , Proteínas Nucleares/efectos de la radiación , Reproducibilidad de los Resultados
6.
Inflamm Bowel Dis ; 19(9): 1867-71, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23665967

RESUMEN

BACKGROUND: We investigated the prevalence and sociodemographic factors associated with diagnosis of inflammatory bowel diseases (IBD) among Jewish Israeli adolescents. METHODS: A total of 953,684 Jewish Israeli adolescents (57.8% men) who underwent a general health examination at mean age 17.3 ± 0.5 years from 1998 to 2010 were included. A definite diagnosis of IBD was based on laboratory, endoscopy, and pathology reports. Covariate data included socioeconomic status (SES) as defined by the Israel Central Bureau Statistics, and origin and number of children in household. RESULTS: A total of 2021 patients with IBD were identified (0.21%) in 13 annual cohorts. The prevalence of IBD increased from 149.4 cases per 100,000 to 301.0 cases per 100,000 in the first and last cohort (Ptrend = 0.003). Independent factors associated with occurrence of IBD were SES (high: odds ratio [OR] = 1.84, 95% confidence interval [CI]: 1.60-2.1, P < 0.001; medium: OR = 1.47, 95% CI: 1.3-1.69, P < 0.001; low: reference), Western origin (OR = 1.71, 95% CI: 1.53-1.90, P < 0.001; Asia Africa: reference), and male gender (OR = 1.21, 95% CI: 1.10-1.33, P < 0.001; female: reference). Four or more children in the household were associated with reduced OR for IBD [N ≥ 4: OR = 0.70, 95% CI: 0.62-0.72, P < 0.001, N = 1-3: reference]. The OR among adolescents of Western origin-high SES was 2.95 times higher compared with adolescents of Asia-African origin with low SES. CONCLUSIONS: The prevalence of IBD doubled during the 13 years of the study period. Among this large cohort of Jewish adolescents, for each origin, higher SES was associated with increased occurrence of IBD.


Asunto(s)
Demografía , Etnicidad/estadística & datos numéricos , Enfermedades Inflamatorias del Intestino/diagnóstico , Enfermedades Inflamatorias del Intestino/epidemiología , Adolescente , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Israel/epidemiología , Masculino , Prevalencia , Pronóstico , Factores Socioeconómicos
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