Presentación y seguimiento de poliposis adenomatosa familiar (PAF): diferencias entre las mutaciones APC y MUTYH / Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations

ANTECEDENTES: La poliposis adenomatosa familiar (PAF) es una patología hereditaria, caracterizada por la existencia de pólipos y cáncer en el colon. La PAF puede ser consencuencia de dos trastornos genéticos: El gen adenomatous polyposis coli (APC) o el gen mutación Y homólogo (MUTYH). Las diferencias clínicas y fenotipicas entre las dos alteraciones geneticas no estan claramente establecidas. MATERIALES Y MÉTODOS: Se realizó un análisis restrospectivo de las manifestaciones clínicas, criterios quirúrgicos, características histológicas, tipo de mutación y resultados a largo plazo de pacientes diagnósticados mediante análisis genéticos de poliposis adenomatosa familiar entre 1984 y 2018. RESULTADOS: De un total de 71 pacientes incluidos en el estudio, en 14 de ellos se identificó mutación del gen MUTYH y en 57, mutación del gen APC. A 60 pacientes se les realizó tratamiento quirúrgico, a la mitad de ellos se les practicó proctocolectomía y a la otra mitad, colectomía total. En pacientes con la mutación APC, el 63% presentó adenomas duodenales; el 61%, pólipos gástricos y el 54% tumor desmoide. De los pacientes con la mutación del gen MUTYH, el 21% presentó adenomas duodenales y al 21% se le diagnosticó pólipos gástricos. En el 21% de los pacientes con mutación del gen APC, el número de pólipos fue inferior a 100 y en el 64% de los pacientes que presentaron mutación del gen MUTYH se observaron más de 100 pólipos en el colon. No existió diferencias estadísticamente significativas entre lo grupos respecto a la proporción de pacientes con más de 100 pólipos. CONCLUSIÓN: Es importante valorar la afectación colónica y la extracolónica en pacientes con mutaciones genéticas asociadas a la PAF

BACKGROUND: Familial adenomatous polyposis is described as one of the common two types of genetic disorders: APC and MUTYH gene associated polyposis syndrome and the clinical differences between the two can sometimes be unclear. MATERIALS AND METHODS: A retrospective analysis and comparison was made of clinical, surgical, and histological criteria, mutation types and the long-term results of patients who underwent genetic analysis which resulted in the diagnosis of Familial Adenomatous Polyposis between 1984 and 2018. RESULTS: Of the total 71 patients included in the study, 14 were identified with the MUTYH gene, and 57 with the APC mutation. In patients with the APC mutation, 63% had duodenal adenoma, 61% gastric polyp and 54% had desmoid tumor. Of the patients with the MUTYH mutation, 21% had duodenal adenoma and 21% were diagnosed with gastric polyps. In 21% of the patients with APC mutation, the polyp count was <100, and 64% of those with the MUTYH mutation had >100 polyps in the colon No statistical difference was determined between the groups in respect of the proportion of patients with >100 polyps. CONCLUSION: The pre-operative genetic testing of patients with polyposis coli will be useful in determining the future clinical outcome and helpful in guiding an informed decision as to whether to apply surgical treatment. It is useful to determine the colonic and extra-colonic involvement of genetic mutation diseases in patients with Familial adenomatous polyposis

Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations. / Presentación y seguimiento de poliposis adenomatosa familiar (PAF): diferencias entre las mutaciones APC y MUTYH.

BACKGROUND: Familial adenomatous polyposis is described as one of the common two types of genetic disorders: APC and MUTYH gene associated polyposis syndrome and the clinical differences between the two can sometimes be unclear. MATERIALS AND METHODS: A retrospective analysis and comparison was made of clinical, surgical, and histological criteria, mutation types and the long-term results of patients who underwent genetic analysis which resulted in the diagnosis of Familial Adenomatous Polyposis between 1984 and 2018. RESULTS: Of the total 71 patients included in the study, 14 were identified with the MUTYH gene, and 57 with the APC mutation. In patients with the APC mutation, 63% had duodenal adenoma, 61% gastric polyp and 54% had desmoid tumor. Of the patients with the MUTYH mutation, 21% had duodenal adenoma and 21% were diagnosed with gastric polyps. In 21% of the patients with APC mutation, the polyp count was <100, and 64% of those with the MUTYH mutation had >100 polyps in the colon No statistical difference was determined between the groups in respect of the proportion of patients with >100 polyps. CONCLUSION: The pre-operative genetic testing of patients with polyposis coli will be useful in determining the future clinical outcome and helpful in guiding an informed decision as to whether to apply surgical treatment. It is useful to determine the colonic and extra-colonic involvement of genetic mutation diseases in patients with Familial adenomatous polyposis.

The Era of the Large Databases: Outcomes After Gastroesophageal Surgery According to NSQIP, NIS, and NCDB Databases. Systematic Literature Review.

BACKGROUND: The term big data refers to databases that include large amounts of information used in various areas of knowledge. Currently, there are large databases that allow the evaluation of postoperative evolution, such as the American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP), the Healthcare Cost and Utilization Project (HCUP) National Inpatient Sample (NIS), and the National Cancer Database (NCDB). The aim of this review was to evaluate the clinical impact of information obtained from these registries regarding gastroesophageal surgery. METHODS: A systematic review using the Meta-analysis of Observational Studies in Epidemiology guidelines was performed. The research was carried out using the PubMed database identifying 251 articles. All outcomes related to gastroesophageal surgery were analyzed. RESULTS: A total of 34 articles published between January 2007 and July 2017 were included, for a total of 345 697 patients. Studies were analyzed and divided according to the type of surgery and main theme in (1) esophageal surgery and (2) gastric surgery. CONCLUSIONS: The information provided by these databases is an effective way to obtain levels of evidence not obtainable by conventional methods. Furthermore, this information is useful for the external validation of previous studies, to establish benchmarks that allow comparisons between centers and have a positive impact on the quality of care.

What have we learned in minimally invasive colorectal surgery from NSQIP and NIS large databases? A systematic review.

BACKGROUND: "Big data" refers to large amount of dataset. Those large databases are useful in many areas, including healthcare. The American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) and the National Inpatient Sample (NIS) are big databases that were developed in the USA in order to record surgical outcomes. The aim of the present systematic review is to evaluate the type and clinical impact of the information retrieved through NISQP and NIS big database articles focused on laparoscopic colorectal surgery. METHODS: A systematic review was conducted using The Meta-Analysis Of Observational Studies in Epidemiology (MOOSE) guidelines. The research was carried out on PubMed database and revealed 350 published papers. Outcomes of articles in which laparoscopic colorectal surgery was the primary aim were analyzed. RESULTS: Fifty-five studies, published between 2007 and February 2017, were included. Articles included were categorized in groups according to the main topic as: outcomes related to surgical technique comparisons, morbidity and perioperatory results, specific disease-related outcomes, sociodemographic disparities, and academic training impact. CONCLUSIONS: NSQIP and NIS databases are just the tip of the iceberg for the potential application of Big Data technology and analysis in MIS. Information obtained through big data is useful and could be considered as external validation in those situations where a significant evidence-based medicine exists; also, those databases establish benchmarks to measure the quality of patient care. Data retrieved helps to inform decision-making and improve healthcare delivery.

Metástasis gastrointestinales de carcinoma pulmonar primario. Serie de casos y revisión sistemática de la literatura / Gastrointestinal metastasis from primary lung cancer. Case series and systematic literature review

El objetivo del presente estudio es describir las características clínicas y el manejo de los pacientes tratados en nuestra institución por metástasis GI de cáncer pulmonar primario; así como realizar una revisión sistemática de casos reportados en la literatura. Se realizó un análisis retrospectivo de una base de datos prospectiva y revisión sistemática de la literatura utilizando las normas MOOSE (Meta-analysis Of Observational Studies in Epidemiology). Se incluyeron 91 pacientes, 5 de la base de datos de nuestra institución y 86 de la base de datos PubMed usando las palabras claves «intestinal metastasis» y «lung cancer». La mediana de tiempo entre el diagnóstico de cáncer pulmonar y el diagnóstico de metástasis GI fue 2 meses, la mediana de supervivencia global fue 4 meses. Este grupo de pacientes presentan mal pronóstico. El tratamiento estándar no se encuentra bien establecido. Ninguno de los tratamientos descritos ha mostrado tener impacto significativo sobre la supervivencia

Aim of the present study is to report clinical characteristics and outcomes of patients treated in authors’ hospital for GI metastasis from primary lung cancer, and to report and analyse the same data concerning patients retrieved from a systematic literature review. We performed a retrospective analysis of prospectively collected data, and a systematic review using the Meta-analysis Of Observational Studies in Epidemiology (MOOSE) guidelines. Ninety-one patients were included, 5 patients from the authors’ hospital and 86 through PubMed database using the keywords "intestinal metastasis" AND "lung cancer". The median time between primary lung cancer diagnosis and GI metastasis diagnosis was 2 months and the median overall survival was 4 months. This group of patients present a poor prognosis and the gold standard treatment is not defined. None of the reported treatments had a significant impact on survival

Gastrointestinal metastasis from primary lung cancer. Case series and systematic literature review. / Metástasis gastrointestinales de carcinoma pulmonar primario. Serie de casos y revisión sistemática de la literatura.

Aim of the present study is to report clinical characteristics and outcomes of patients treated in authors' hospital for GI metastasis from primary lung cancer, and to report and analyse the same data concerning patients retrieved from a systematic literature review. We performed a retrospective analysis of prospectively collected data, and a systematic review using the Meta-analysis Of Observational Studies in Epidemiology (MOOSE) guidelines. Ninety-one patients were included, 5 patients from the authors' hospital and 86 through PubMed database using the keywords "intestinal metastasis" AND "lung cancer". The median time between primary lung cancer diagnosis and GI metastasis diagnosis was 2 months and the median overall survival was 4 months. This group of patients present a poor prognosis and the gold standard treatment is not defined. None of the reported treatments had a significant impact on survival.

Endovascular Management of Ureteroarterial Fistula: Single Institution Experience and Systematic Literature Review.

BACKGROUND: Ureteroarterial fistula (UAF) represents an uncommon complication after urological surgery; however, this is a well-documented condition in patients with predisposing risk factors. The aim of the present study is to report and analyze the endovascular management of a series of patients with UAF, treated in authors' hospital, and to report and analyze the same data concerning patients retrieved from a systematic literature review. METHODS: Authors conducted a retrospective analysis of prospectively collected data and a systematic literature review. The research was carried out through PubMed database searching the following keywords: "uretero arterial fistula" and "uretero iliac fistula." It includes only articles reporting the endovascular management. RESULTS: Forty-six articles were included in the present study for a total of 94 patients. Risk factors were as follows: chronic indwelling ureteral stents, pelvic surgery, radiotherapy, iliac artery pseudo-aneurysm, and chemotherapy. All patients had gross hematuria at presentation. Stent graft placement was performed in 89 patients, embolization in 5 patients, and iliac internal artery embolization combined with stent graft placement was performed in 24 patients. Four postprocedural complications were observed (4.2%). During a median follow-up of 8 months, 10 complications related to UAF were observed (10.6%): rebleeding (7 cases) and stent thrombosis (3 cases). Two patients died for causes related to UAF (2.1%): rebleeding (1) and retroperitoneal abscess (1). CONCLUSION: Based on the present data, endovascular treatment is feasible and safe with low postprocedural complications and mortality rate. Considering the increase in surgery and radiotherapy performed, UAF should be always debated in patients with massive hematuria.

HPV-related squamous cell carcinoma in a neovagina after male-to-female gender confirmation surgery.

Vaginoplasty by penile and scrotal skin inversion is a well-established technique for male-to-female gender confirmation surgery. In this setting, chronic inflammation and lacerations associated with history of human papillomavirus (HPV) infection may induce a high risk of malignant degeneration in the long term. A 78-year-old transgender woman was admitted with genital discomfort and neovaginal discharge. The patient's history revealed male-to-female gender confirmation surgery with construction of a neovagina by penile and scrotal skin inversion at 33 years of age. Physical examination of the genitalia revealed presence of fecal material, suggestive of recto-neovaginal fistula. A biopsy specimen was positive for well-differentiated HPV-related squamous cell carcinoma. Magnetic resonance imaging (MRI) showed a bulky mass in the posterior wall of the neovagina that infiltrated the urethra, prostatic gland and the anterior rectal wall. Following a multidisciplinary evaluation, we performed a definitive sigmoid colostomy and administered chemotherapy. Long-term follow-up seems advisable in patients after vaginoplasty due to the possibility of delayed development of cancer. Following biopsy, we consider MRI as the modality of choice to identify possible infiltration of the adjacent structures. As data regarding these lesions are scarce and management is complex, a multidisciplinary approach is recommended.

Outcomes after bariatric surgery according to large databases: a systematic review.

PURPOSE: The rapid development of technological tools to record data allows storage of enormous datasets, often termed "big data". In the USA, three large databases have been developed to store data regarding surgical outcomes: the American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP), the Healthcare Cost and Utilization Project (HCUP) National Inpatient Sample (NIS) and the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program (MBSAQIP). We aimed to evaluate the clinical impact of studies found in these databases concerning outcomes of bariatric surgery. METHODS: We performed a systematic review using the Meta-analysis of Observational Studies in Epidemiology guidelines. Research carried out using the PubMed database identified 362 papers. All outcomes related to bariatric surgery were analysed. RESULTS: Fifty-four studies, published between 2005 and February 2017, were included. These articles were divided into (1) outcomes related to surgical techniques (12 articles), (2) morbidity and mortality (12), (3) 30-day hospital readmission (10), (4) outcomes related to specific diseases (11), (5) training (2) and (6) socio-economic and ethnic observations in bariatric surgery (7). Forty-two papers were based on data from ACS-NSQIP, nine on data from NIS and three on data from MBSAQIP. CONCLUSIONS: This review provides an overview of surgical management and outcomes of bariatric surgery in the USA. Large databases offer useful complementary information that could be considered external validation when strong evidence-based medicine data are lacking. They also allow us to evaluate infrequent situations for which randomized control trials are not feasible and add specific information that can complement the quality of surgical knowledge.

Laparoscopic sleeve gastrectomy in patients over 60 years: impact of age on weight loss and co-morbidity improvement.

BACKGROUND: Advanced age has traditionally been considered a relative contraindication to bariatric surgery due to increased perioperative risk and less weight loss. However, it is now being reconsidered in older patients after encouraging results in recent series and the increasing life expectancy. We compared operative and postoperative outcomes of laparoscopic sleeve gastrectomy in patients over 60 years with outcomes in younger patients. We also, analyzed the effect of bariatric surgery on improvement and resolution of co-morbidities in the older group. METHODS: From November 2008 to November 2013, 130 patients underwent laparoscopic sleeve gastrectomy. Of these, 28 patients (21.5%) were 60 years or older. Outcomes in terms of perioperative complications, short-term and medium-term weight loss, remission or improvement of co-morbidities and medication requirements were extracted from our prospective database. RESULTS: Short-term mortality was 0% and 30-day complication rate was similar in both groups (17.9% versus 17.6% according to Clavien-Dindo classification). At 12 months postsurgery, older patients had lost 49% percent of excess weight compared to 60% in the younger group (P = 0.012). At 2 years, the results were 45% versus 60%, respectively, with P = 0.015. At least 1 major co-morbidity improved in 65.2% of older patients. Before surgery, the older group took an average of 4.3 medications compared to 2.7 at 1 year after surgery (P<0.001). CONCLUSION: Laparoscopic sleeve gastrectomy is a safe and effective treatment for morbid obesity in people over 60 years, although younger patients show greater weight loss. Daily medication requirements and co-morbidities decrease significantly in older patients after this procedure.

Differentially altered molecular signature of visceral adipose tissue in HIV-1-associated lipodystrophy.

OBJECTIVE: Lipodystrophy in HIV-1-infected antiretroviral-treated patients is often associated with opposite alterations in adipose tissue depots as follows: lipoatrophy of subcutaneous adipose tissue (SAT) versus lipohypertrophy of visceral adipose tissue (VAT). We determined the specific molecular alterations in VAT relative to SAT in patients. DESIGN: We analyzed the expression of marker genes of mitochondrial function, adipogenesis, and inflammation in a unique collection of 8 biopsies of omental VAT from HIV-1-infected antiretroviral-treated patients with lipodystrophy. For comparison, we analyzed SAT from 10 patients, and SAT and VAT from 10 noninfected individuals. METHODS: Quantitative real-time polymerase chain reaction of mitochondrial DNA and gene transcripts; immunoblot and multiplex for quantification of specific proteins. RESULTS: Similar mitochondrial DNA depletion and abnormal increases in mitochondrial protein levels were found in VAT and SAT from patients. Transcript levels of adipogenesis and metabolism marker genes were unaltered in VAT but were decreased in SAT. Tumor necrosis factor α and CD68 were similarly induced in both adipose depots from patients, but other markers of inflammation-related pathways showed distinct alterations as follows: interleukin 18 and interleukin 1 receptor antagonist were induced only in SAT, whereas interleukin 6, interleukin 8, and monocyte chemoattractant protein 1 expression was reduced in VAT but not in SAT. CONCLUSIONS: Mitochondrial alterations are similar in VAT and SAT from patients, whereas adipogenic gene expression is decreased in SAT but unaltered in VAT, highlighting the relevance of adipogenic processes in the differential alterations of fat depots. Specific disturbances in inflammatory status in VAT relative to SAT are present. Milder induction of proinflammatory signaling in VAT could be involved in preventing fat wasting in this depot.

Resultados a medio plazo en la implementación de la cirugía laparoscópica colorrectal en la práctica clínica tras la realización de un curso intensivo / Medium term results on introducing colorrectal laparoscopic surgery into clinical practice after having an intensive training course

Introducción La cirugía endoscópica posee características que incrementan las dificultades de su aprendizaje. Hace 5 años, se diseñó un curso en cirugía laparoscópica colorrectal para ofrecer de forma intensiva las bases técnicas de este tipo de cirugía. El objetivo de este artículo es conocer el impacto sobre la práctica clínica de un curso de cirugía colorrectal, investigar los factores que limitan su aplicabilidad y las preferencias formativas de los cirujanos. Material y métodos Entre junio de 2005 y diciembre de 2010 se efectuaron 22 cursos, de 4 días de duración, 36 horas lectivas (4 en forma de seminarios y 32 en quirófano) dirigidos a 7 alumnos. En diciembre de 2010 se envió una encuesta para evaluar el impacto del curso sobre la actividad en cirugía laparoscópica colorrectal del alumno, conocer las dificultades encontradas en su aplicación y evaluar las expectativas formativas en cirugía endoscópica de este colectivo de cirujanos. Resultados La encuesta se remitió a 148 cirujanos, obteniendo 74 respuestas (50%). El periodo medio tras el curso fue de 26,5 meses (2-60). Se observó un incremento mensual en más de 5 casos en el 70% de los centros. El curso permitió consolidar la actividad en hospitales comarcales, mientras que en hospitales universitarios y generales sirvió para relanzar una experiencia inicial (..) (AU)

Introduction: Endoscopic surgery has characteristics that increase the difficulties of learning. Five years ago, an intensive colorectal laparoscopic surgery course was designed to offer training in the technical bases of this type of surgery. The aim of this article is to determine the impact of the colorectal surgery course on clinical practice, and to investigate the factors that limit its applicability and the training preferences of the surgeons. Material and methods: Twenty-two courses of four days duration, with 36 hours of lessons (4in seminar form and 32 in the surgery), and with 7 trainees, were held between June 2005 and December 2010. A survey was sent out in December 2010 to assess the impact of the course on the colorectal laparoscopic surgery activity of the trainee, to find out the difficulties encountered in its application, and to evaluate the training expectations in endoscopic surgery in this group of surgeons. Results: The questionnaire was sent to 148 surgeons, with 74 (50%) responses received. The mean period after the course was 26.5 (2-60) months. A monthly increase of more than 5 cases was observed in 70% of the centres. The course enabled them to consolidate the activity in local hospitals, while in university and general hospitals it served to re-launch aninitial experience. Among the obstacles that made it difficult to introduce were care load and the availability of a surgeon, particularly in general and university hospitals (P=.001), and in local hospitals it was the availability of patients. The majority of surgeons (70%) believed that specific training was required, preferring a short period in a hospital with experience. Conclusions: An intensive course on colorectal laparoscopic surgery enabled the activity to be consolidated or increased in this area. Training in colorectal laparoscopic surgery requires additional teaching efforts, which are currently unstructured (AU)

[Medium term results on introducing colorrectal laparoscopic surgery into clinical practice after having an intensive training course]. / Resultados a medio plazo en la implementación de la cirugía laparoscópica colorrectal en la práctica clínica tras la realización de un curso intensivo.

INTRODUCTION: Endoscopic surgery has characteristics that increase the difficulties of learning. Five years ago, an intensive colorectal laparoscopic surgery course was designed to offer training in the technical bases of this type of surgery. The aim of this article is to determine the impact of the colorectal surgery course on clinical practice, and to investigate the factors that limit its applicability and the training preferences of the surgeons. MATERIAL AND METHODS: Twenty-two courses of four days duration, with 36 hours of lessons (4 in seminar form and 32 in the surgery), and with 7 trainees, were held between June 2005 and December 2010. A survey was sent out in December 2010 to assess the impact of the course on the colorectal laparoscopic surgery activity of the trainee, to find out the difficulties encountered in its application, and to evaluate the training expectations in endoscopic surgery in this group of surgeons. RESULTS: The questionnaire was sent to 148 surgeons, with 74 (50%) responses received. The mean period after the course was 26.5 (2-60) months. A monthly increase of more than 5 cases was observed in 70% of the centres. The course enabled them to consolidate the activity in local hospitals, while in university and general hospitals it served to re-launch an initial experience. Among the obstacles that made it difficult to introduce were care load and the availability of a surgeon, particularly in general and university hospitals (P=.001), and in local hospitals it was the availability of patients. The majority of surgeons (70%) believed that specific training was required, preferring a short period in a hospital with experience. CONCLUSIONS: An intensive course on colorectal laparoscopic surgery enabled the activity to be consolidated or increased in this area. Training in colorectal laparoscopic surgery requires additional teaching efforts, which are currently unstructured.