Clinical approach for managing patients with unexpected CDH1 mutations: A case report.

BACKGROUND: Hereditary diffuse gastric cancer (HDGC) (OMIM# 137215) is an autosomal dominant cancer syndrome associated with CDH1 (OMIM# 192090) mutations. Prophylactic total gastrectomy (PTG) is the most recommended preventive treatment when a pathogenic mutation is found. However, the increasing use of genetic testing has led to the identification of incidental CDH1 mutations in individuals without a family history of gastric cancer. It remains unclear whether these patients should undergo prophylactic total gastrectomy. METHODS: Germline DNA, obtained from peripheral blood, was analysed by NGS. RESULTS: A 47-year-old woman was diagnosed with high-grade serous ovarian carcinoma, FIGO stage IIIC, with a Homologous Recombination Deficiency (HRD) GIS status of 78 (positive, cut-off: 43). She received chemotherapy and niraparib treatment. A multigene panel test revealed no pathogenic mutations in BRCA1 (OMIM# 113705)/BRCA2 (OMIM# 600185) genes, but a de novo deletion of exon 16 in CDH1 was found incidentally. She had no previous family history of gastric or breast cancer. The patient was enrolled in a surveillance program involving periodic endoscopy and was diagnosed with diffuse gastric cancer through biopsies of a pale area in the antrum after 1 year of close endoscopic follow-up. CONCLUSION: This case presents supportive evidence for the pathogenic classification of the loss of the last exon of CDH1.

Implementación de la disección endoscópica submucosa esofágica en España: resultados del registro nacional / Implementation of esophageal endoscopic submucosal dissection in Spain: Results from the nationwide registry

Introducción y objetivos Los resultados de la disección submucosa endoscópica (DSE) en el esófago no han sido evaluados en nuestro país. Nuestro objetivo principal fue analizar la efectividad y la seguridad de la técnica. Material y métodos Análisis del registro nacional prospectivo de DSE. Se incluyeron todas las lesiones superficiales esofágicas extirpadas mediante DSE en 17 hospitales (20 endoscopistas) entre enero de 2016 y diciembre de 2021. Se excluyeron las lesiones subepiteliales. La variable principal fue el porcentaje de resección curativa. Se realizó un análisis de regresión logística para conocer los predictores de resección no curativa y un análisis de supervivencia. Resultados Se realizaron un total de 102 DSE en 96 pacientes. El éxito técnico fue del 100% y el porcentaje de resección en bloque, del 98%. El porcentaje de resección R0 y curativa fue del 77,5% (n = 79; IC 95%: 68%-84%) y del 63,7% (n = 65; IC 95%: 54%-72%), respectivamente. La histología más frecuente fue la neoplasia sobre esófago de Barrett (n = 55 [53,9%]). El principal motivo de resección no curativa fue la invasión submucosa profunda (n = 25). Los centros con menor volumen de casos obtuvieron cifras inferiores de resección curativa. El porcentaje de perforación, sangrado diferido y estenosis posprocedimiento fue del 5%, del 5% y del 15,7%, respectivamente. Ningún paciente falleció ni requirió cirugía por un efecto adverso. Tras una mediana de seguimiento de 14 meses, 20 pacientes (20,8%) recibieron cirugía y/o quimio-radioterapia, y 9 fallecieron (mortalidad del 9,4%). Conclusiones En nuestro medio, la DSE esofágica es curativa en aproximadamente dos de cada tres pacientes, con un riesgo aceptable de efectos adversos (AU)

Introduction and aims The outcomes of endoscopic submucosal dissection (ESD) in the esophagus have not been assessed in our country. Our primary aim was to analyze the effectiveness and safety of the technique. Material and methods Analysis of the prospectively maintained national registry of ESD. We included all superficial esophageal lesions removed by ESD in 17 hospitals (20 endoscopists) between January 2016 and December 2021. Subepithelial lesions were excluded. The primary outcome was curative resection. We conducted a survival analysis and used logistic regression analysis to assess predictors of non-curative resection. Results A total of 102 ESD were performed on 96 patients. The technical success rate was 100% and the percentage of en-bloc resection was 98%. The percentage of R0 and curative resection was 77.5% (n = 79; 95% CI: 68%-84%) and 63.7% (n = 65; 95% CI: 54%-72%), respectively. The most frequent histology was Barrett-related neoplasia (n = 55 [53.9%]). The main reason for non-curative resection was deep submucosal invasion (n = 25). The centers with a lower volume of ESD obtained worse results in terms of curative resection. The rate of perforation, delayed bleeding and post-procedural stenosis were 5%, 5% and 15.7%, respectively. No patient died or required surgery due to an adverse effect. After a median follow-up of 14 months, 20 patients (20.8%) underwent surgery and/or chemoradiotherapy, and 9 patients died (mortality 9.4%). Conclusions In Spain, esophageal ESD is curative in approximately two out of three patients, with an acceptable risk of adverse events (AU)

The c.386A>C p.(Asn129Thr) variant in SMAD4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant.

BACKGROUND: Juvenile Polyposis Syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple hamartomatous gastrointestinal polyps. Here, we present a case of JPS with a mosaic variant in SMAD4. METHODS: Exome sequencing TRIO analysis, using germline DNA from the biological mother and father along with the index case (IC). RESULTS: A 46-year-old male with no family history of cancer presented with chronic iron deficiency anemia and was diagnosed with massive gastric polyposis (≥100 polyps). At the age of 59, he underwent a total gastrectomy, revealing numerous polyps occupying the entire gastric mucosa, including a 5 cm gastric hyperplastic polyp with high-grade dysplasia and focal adenocarcinoma. TRIO analysis identified the c.386A>C p.(Asn129Thr) variant in the SMAD4 gene at an allele frequency (AF) of 22%, suggesting its mosaic origin. Subsequently, the variant was found in heterozygosity in the IC's son, who exhibited two subcentimeter polyps in the colon and seven inflammatory gastric polyps with gastric inflammatory areas and hyperplasia, suggesting that the c.386A>C p.(Asn129Thr) variant in SMAD4 segregated with the phenotype. CONCLUSION: Our study provides evidence supporting the classification of the c.386A>C p.(Asn129Thr) variant in SMAD4 as a likely pathogenic variant. This finding contributes to improved accuracy in the diagnosis and genetic counseling of JPS.

Comentario al caso "Apendicitis aguda tras resección submucosa endoscópica de pólipo colónico" / Comment to the letter "Acute appendicitis after a colonic endoscopic submucosal resection"

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Guía clínica para la resección mucosa endoscópica de lesiones colorrectales no pediculadas / Clinical guidelines for endoscopic mucosal resection of non-pedunculated colorectal lesions

Este documento resume el contenido de la Guía de resección mucosa endoscópica elaborada por el grupo de trabajo de la Sociedad Española de Endoscopia Digestiva (GSEED de Resección Endoscópica) y expone las recomendaciones sobre el manejo endoscópico de las lesiones neoplásicas colorrectales superficiales (AU)

This document summarizes the contents of the Clinical Guidelines for the Endoscopic Mucosal Resection of Non-Pedunculated Colorectal Lesions that was developed by the working group of the Spanish Society of Digestive Endoscopy (GSEED of Endoscopic Resection). This document presents recommendations for the endoscopic management of superficial colorectal neoplastic lesions (AU)

Guía clínica para la resección mucosa endoscópica de lesiones colorrectales no pediculadas / Clinical guidelines for endoscopic mucosal resection of non-pedunculated colorectal lesions

Este documento resume el contenido de la Guía de resección mucosa endoscópica elaborada por el grupo de trabajo de la Sociedad Española de Endoscopia Digestiva (GSEED de Resección Endoscópica) y expone las recomendaciones sobre el manejo endoscópico de las lesiones neoplásicas colorrectales superficiales (AU)

This document summarizes the contents of the Clinical Guidelines for the Endoscopic Mucosal Resection of Non-Pedunculated Colorectal Lesions that was developed by the working group of the Spanish Society of Digestive Endoscopy (GSEED of Endoscopic Resection). This document presents recommendations for the endoscopic management of superficial colorectal neoplastic lesions (AU)

Serrated lesions and serrated polyposis syndrome / Lesiones serradas y síndrome de poliposis serrada

The serrated pathway has been shown to be an alternative colorectal carcinogenetic route potentially accounting for up to one third of all CRCs. Serrated lesions, particularly SSPs, have been a focus of research during the past few years. They have well-established histological and molecular characteristics that account for their potential carcinogenetic risk through the accumulation BRAF, KRAS and methylator profile (CpG) mutations. Their endoscopic identification and resection represent a challenge because of their specific characteristics, and the need for an adequate specimen for histological diagnosis. Knowledge of these lesions is key, as is the adoption of established criteria for their endoscopic description and histological diagnosis. SPS is the maximum expression of involvement by serrated lesions, is associated with increased risk for CRC, and requires attentive endoscopic follow-up, as well as family screening. While the exact etiopathogenic mechanism remains unknown, current research will likely provide us with appropriate answers in the not too distant future (AU)

La vía serrada se ha demostrado como vía alternativa de carcinogénesis colorrectal que podría explicar hasta un tercio de todos los CCR. Las lesiones serradas, en particular los PSS, han sido objeto de estudio en los últimos años. Presentan características histológicas y moleculares definidas, que explican su potencial riesgo de carcinogénesis mediante acúmulo de mutaciones BRAF, KRAS y perfil metilador (CgP). Su detección y resección endoscópica plantean un desafío por sus particulares características, así como por la necesidad de contar con un adecuado espécimen para su diagnóstico histológico. Es esencial el conocimiento de estas lesiones, así como la adopción de criterios definidos para su descripción endoscópica y diagnóstico histológico. El SPS es la expresión máxima de afectación por lesiones serradas, se asocia con un riesgo aumentado de CCR y requiere un estrecho seguimiento endoscópico, así como un cribado familiar. Aunque aún no se ha podido establecer el mecanismo etiopatogénico exacto, es probable que las vías de investigación en marcha puedan darnos una respuesta en un futuro no muy lejano (AU)

Disección submucosa endoscópica. Guía de práctica clínica de la SEED / Endoscopic submucosal dissection. Sociedad Española de Endoscopia Digestiva (SEED) clinical guideline

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PACTA: efecto de un programa no impositivo de control y asesoramiento del tratamiento antibiótico sobre la disminución de los costes y el descenso de ciertas infecciones nosocomiales / Impact of a non-compulsory antibiotic control program (PACTA): Cost reductions and decreases in some nosocomial infections

ANTECEDENTES. Los antibióticos representan el 30% del gasto de farmacia de un hospital (más del 50% de las prescripciones se consideran inapropiadas). Es necesario el desarrollo de programas para la utilización más racional de antibióticos. Se exponen los resultados del programa no impositivo de asesoramiento y control del tratamiento antibiótico del Hospital Universitario 12 de Octubre de Madrid. MÉTODOS. El programa se desarrolló en las salas de hospitalización de seis servicios médicos y quirúrgicos. Diariamente se revisaron los tratamientos antibióticos de todos los pacientes y se realizaron recomendaciones por escrito, según unos criterios previamente definidos. La intervención del programa se realizó durante 12 meses. Se compararon los resultados con los de los 12 meses previos. RESULTADOS. Se revisaron 1.280 tratamientos. Se realizaron 524 recomendaciones (el 80% fueron aceptadas). Se logró una reducción del número de dosis diarias definidas de antibióticos/100 días de hospitalización del 13,82%. Se consiguió una disminución del gasto en antibióticos de 5.352 L (5.446 L/mes), lo que supone un ahorro de 1,21 L/cama de hospitalización/día. No hubo diferencias estadísticamente significativas en estancia media ni en mortalidad. Se constató una reducción de la incidencia de diarrea por Clostridium difficile (p < 0,0001)y de aislamientos de Candida spp. (p < 0,05).CONCLUSIONES. Mediante un programa no impositivo se consiguió una mejor utilización y una disminución del gasto en antibióticos, sin variaciones en estancia mediani en la mortalidad. Se redujo la incidencia de ciertas infecciones nosocomiales. El programa fue muy bien aceptado por los médicos de los servicios implicados (AU)

BACKGROUND. Antibiotics account for 30% of hospital pharmacy expenses. More than 50% of the prescriptions are considered inappropriate; hence, programs devoted to optimizing the prescription of antibiotics should be developed. We present the results of a non-compulsory program for the assessment and control of antibiotic treatment in the University Hospital 12 de Octubre in Madrid. METHODS. The program was applied in the hospitalization units of six medical and surgical departments. Treatments inall patients were checked daily and recommendations were made in writing, according to previously established criteria. The program was used for 12 months and the results were compared with those of the previous 12 months. RESULTS. 1,280 treatments were reviewed and 524 recommendations were made (80% of them were accepted). There was a 13.82% reduction in the number of defined daily doses of antibiotics/100 inpatient-days. Antibiotic expenditure decreased by 65,352 euros(5,446 euros/month), implying a reduction of 1.21 euros/hospitalization-bed/day. There were no statistically significant differences in length of hospital stay or mortality between the two periods. A reduction in the incidence of Clostridium difficile diarrhea (p < 0.0001)and Candida spp. isolations (p < 0.05) was observed. CONCLUSIONS. Following application of a non-compulsory control program, antibiotic prescription improved and expenditure decreased, with no change in length of hospital stay or mortality. There was a reduction in the incidence of some nosocomial infections. Acceptation of the program by the physicians of the department simplicated was favorable (AU)

Administración de fármacos utilizados en dermatología durante el embarazo y la lactancia (I) / Administration of drugs used in dermatology during pregnancy and breastfeeding (I)

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Deficiência hormonal no homem idoso / Hormonal deficiency in aging male

A deficiência androgênica no homem idoso é uma condiçäo clínica que afeta 10(por cento) a 20(porcento) desta populaçäo ,interferindo com o estado clínico e a qualidade de vida. Diminuiçäo dos níveis séricos de testosterona ocorrem em aproximadament 10(por cecnto), segundo relatos e, associado à atual tendência de maior longevidade, contribui para um número crescente de pacientes que procuram cuidados médicos. Queixas relacionadas à deficiência androgênica incluem: perda do libido, ginecomastia, fraqueza muscular, osteoporose e estados depressivos. A reposiçäo hormonal em geral mostra boas respostas clínicas e deve ser estimulada. Apresentaçöes oral, parenteral, patches e a recente introduçäo de gel säo opçöes atuais para restabelececr os níveis hormonais. A reposiçäo ideal deve manter níveis séricos normais constantes. Contra-indicaçöes absolutas para o tratamento säo cânceer de próstata e de mama. Assim, todo so pacientes devem ser inicialmente avaliados e, subsequentemente, a companhados com consultas a cada três meses, incluindo-se exame digital retal e dosagem sérica do PSA no primeiro ano e, a seguir ,anualmente.(au)

Plan piloto de transmision

Contenido: Cap.1 Equivalente de referencia Cap.2 Sistema de abonado Cap.3 Plan de transmision Cap.4 Comunicacion Nacional de Referencia Cap.5 Estudio del equivalente y de la estabilidad Cap.6 Red boliviana Cap.7 Consideraciones economicas. Anexos.