Five Years of Multidisciplinary Care in Hereditary Cancer: Our Experience in a Spanish University Hospital.

OBJECTIVE: To analyse the evolution of a multidisciplinary heredofamilial cancer unit (HFCU) in a university hospital. METHODS: This was a retrospective analysis of the activity of our HFCU in its first 5 years of existence. RESULTS: Between July 2010 and July 2015, 1,518 patients from 1,318 families attended our HFCU. Genetic testing was offered to 862 patients. Of those, 833 (96.6%) accepted testing, with available results for 636 (76.4%). Pathogenic mutations in BRCA1 and BRCA2 were found in 175 patients. Lynch syndrome and adenomatous polyposis were the most frequent syndromes diagnosed (151/175, 86.3%) among 17 different syndromes studied. Of the 404 patients without a previous genetic diagnosis in the family, 62 (15.3%) were found to have mutations in disease-causing genes. Prophylactic surgery and follow-up (33.7%) or follow-up only (66.3%) was proposed for mutation carriers according to international guidelines and patients' preferences. CONCLUSION: We have a high mutation detection rate, genetic test acceptance, and compliance with risk reduction strategies. However, there is room for improvement, especially in genetic testing timing, considering that an increase in the indications for genetic testing is expected.

Utilidad de la colonoscopia en la colitis isquémica / Usefulness of colonoscopy in ischemic colitis

Introducción: la colitis isquémica es la causa más frecuentede isquemia intestinal. Realizamos un estudio con el objetivo deanalizar las características demográficas, clínicas y la utilidad de lacolonoscopia en los pacientes diagnosticados de colitis isquémicaen nuestro centro en relación a un cambio de actitud terapéutica.Método: estudio retrospectivo en el que se seleccionaron 112pacientes diagnosticados de colitis isquémica mediante colonoscopiay biopsia, en un periodo de tiempo de cinco años. Se analizaron:edad, sexo, motivo de exploración, factores de riesgo cardiovascular,grado endoscópico de isquemia, cambio en la actitudterapéutica, tratamiento y evolución.Resultados: la edad media de nuestros pacientes fue de 73,6± 12,1 años con una incidencia similar en ambos sexos (50,9%mujeres y 49,1% hombres). Los factores de riesgo asociados fueronla hipertensión arterial (61,1%), el tabaco (37,2%) y antecedentede accidente cardiovascular previo (52,2%). El motivo másfrecuente de realización de colonoscopia fue rectorragia (53,6%)seguido de dolor abdominal (30,4%), realizándose de forma urgenteen el 65,3% de los casos. La colonoscopia permitió uncambio en la actitud terapéutica en el 50% de los casos, aumentandoen la urgente al 65,75%. La mortalidad global fue del27,67%. La colitis isquémica grave (25%) fue más frecuente envarones (64,3%), y cuando la indicación de colonoscopia fue urgente(85,71%) y cursó con mortalidad alta (53,57%). En estos serealizó tratamiento quirúrgico en el 57,14% de los casos con unaevolución favorable en el 50%, mientras que los pacientes con colitisisquémica leve o moderada tuvieron un pronóstico mejor, conevolución favorable en el 80,95% de los casos y con menor requerimientode tratamiento quirúrgico (4,76%, p < 0,05).Conclusión: la colitis isquémica es más frecuente en la edadavanzada. La sintomatología más común es la rectorragia y el dolorabdominal...(AU)

Background: the ischemic colitis is intestinal the most frequentcause of ischemia. With this work we determine the demographicand clinical characteristics, and the usefulness of thecolonoscopy in the patients with ischemic colitis diagnosed in ourcentre in relation to a change of therapeutic attitude.Method: retrospective study in which were selected 112 patientsdiagnosed with ischemic colitis by colonoscopy and biopsy,in a period of five years. It was analyzed: age, sex, reason for examination,factors of cardiovascular risk, endoscopic degree of ischemia,change in the therapeutic attitude, treatment and outcome.Results: the average age was of 73.64 ± 12.10 years with anequal incidence in women (50.9%) and the men (49.1%). The associatedfactors were the HTA (61.1%), tobacco (37.2%) and antecedentsof cardiovascular episode (52.2%). The most frequentreason for colonoscopy was rectorrhagia (53.6%) followed of theabdominal pain (30.4%), being urgent the 65.3%. Colonoscopyallowed a change in the therapeutic attitude in the 50 increasingin the urgent one to the 65.75%. Global mortality was of27.67%. The serious ischemic colitis (25%) was more frequent inmen (64.3%) in urgent indication (85.71%) and attends with highmortality (53.57%). Surgical treatment in the 57.14% was madewith a good evolution in the 50%, whereas the patients with mildor moderate ischemic colitis had a better prognosis (favourableevolution in 80.95%) with smaller requirement of the surgicaltreatment (4.76%), p < 0.05.Conclusion: the colitis ischemic are more frequent in the olderage. The most frequent symptoms are the rectorrhagia and theabdominal pain. The colonoscopy is a useful technique to evaluatethe gravity and it induces a change of attitude according to the resultof the same one. The evidence of a serious colitis supposedan increase of the necessity of surgery and worse prognosis(AU)

Usefulness of colonoscopy in ischemic colitis.

BACKGROUND: the ischemic colitis is intestinal the most frequent cause of ischemia. With this work we determine the demographic and clinical characteristics, and the usefulness of the colonoscopy in the patients with ischemic colitis diagnosed in our centre in relation to a change of therapeutic attitude. METHOD: retrospective study in which were selected 112 patients diagnosed with ischemic colitis by colonoscopy and biopsy, in a period of five years. It was analyzed: age, sex, reason for examination, factors of cardiovascular risk, endoscopic degree of ischemia, change in the therapeutic attitude, treatment and outcome. RESULTS: the average age was of 73.64 + or - 12.10 years with an equal incidence in women (50.9%) and the men (49.1%). The associated factors were the HTA (61.1%), tobacco (37.2%) and antecedents of cardiovascular episode (52.2%). The most frequent reason for colonoscopy was rectorrhagia (53.6%) followed of the abdominal pain (30.4%), being urgent the 65.3%. Colonoscopy allowed a change in the therapeutic attitude in the 50 increasing in the urgent one to the 65.75%. Global mortality was of 27.67%. The serious ischemic colitis (25%) was more frequent in men (64.3%) in urgent indication (85.71%) and attends with high mortality (53.57%). Surgical treatment in the 57.14% was made with a good evolution in the 50%, whereas the patients with mild or moderate ischemic colitis had a better prognosis (favourable evolution in 80.95%) with smaller requirement of the surgical treatment (4.76%), p < 0.05. CONCLUSION: the colitis ischemic are more frequent in the older age. The most frequent symptoms are the rectorrhagia and the abdominal pain. The colonoscopy is a useful technique to evaluate the gravity and it induces a change of attitude according to the result of the same one. The evidence of a serious colitis supposed an increase of the necessity of surgery and worse prognosis.

Safety and efficacy of argon plasma coagulator ablation therapy for flat colorectal adenomas.

INTRODUCTION: argon-plasma coagulation (APC) has been used safely and efficaciously in multiple settings including colon polyp treatment. The aim of this study was to evaluate APC efficacy and safety in the treatment of flat colorectal adenomas. MATERIALS AND METHODS: APC ablation was prospectively performed and evaluated in 22 consecutive patients with colorectal adenomas, 11 of which had large sessile adenomas that were treated with piecemeal polypectomy and APC ablation of residual adenomatous tissue, whereas the remaining eleven patients with flat or carpet-like adenomas were only treated with APC. The mean initial longitudinal extension of adenomas to be treated with APC was 22 mm (range, 20 to 40 mm). RESULTS: the mean age of patients was 70 years. Adenomas were found most frequently in the rectum (50%) and cecum (23%). Complete ablation was achieved in 90.9% of adenomas. Recurrence was observed in 20% of patients, all of them in the rectum, after a mean follow-up period of 16.3 months (range, 8 to 35). All recurrences were managed satisfactorily. No major complications were seen. CONCLUSIONS: argon plasma coagulator ablation of flat colorectal adenomas is an efficacious and safe technique, specially in the right colon, but results must be confirmed in controlled trials with a higher number of patients.

Gastrointestinal hemorrhage due to metastatic choriocarcinoma with gastric and colonic involvement.

Metastatic choriocarcinoma is a rare nonseminomatous germ-cell tumor with a characteristic hemorrhagic tendency due to its trophoblastic origin. Gastrointestinal tube involvement is present in less than 5% of cases, and location or therapy of these lesions can be achieved by endoscopy, angiography or surgery. Despite its being a highly curable malignant disease, the occurrence of gastrointestinal bleeding worsens prognosis. We report a case of metastatic choriocarcinoma which manifested as melaena and was diagnosed by the presence of metastatic lesions in the stomach and right bowel on endoscopy.

Hemorragia digestiva secundaria a coriocarcinoma con metástasis gastricas y colónicas / Gastrointestinal hemorrhage due to metastatic choriocarcinoma with gastric and colonic involvement

El coriocarcinoma metastático es una infrecuente tumoración de células germinales con una marcada tendencia hemorrágica debido a su origen trofloblástico. La invasión del tubo digestivo ocurre en 'menos del 5 por ciento de los casos. A pesar de ser una enfermedad, maligna con buena respuesta a la quimioterapia, la hemorragia gastrointestinal ensombrece el pronóstico. Presentamos un caso de un paciente de 37 años con un coriocarcinoma diseminado en el que la presentación clínica fue hemorragia digestiva en forma de melenas, encontrándose por endoscopia lesiones metastáticas en estómago y colon derecho (AU)

[Esophageal fibrovascular polyp: report of 2 cases]. / Pólipo fibrovascular esofágico: a propósito de 2 casos.

Fibrovascular esophageal polyps are benign intraluminal tumors that, although of slow growth, may become large. We describe the features of two cases, diagnosed in our department, and emphasize the endoscopic aspects of the lesion.

[Survey of informed consent in a gastrointestinal endoscopy unit]. / Encuesta de opinión sobre el consentimiento informado en una unidad de endoscopia digestiva.

OBJECTIVES: Gastrointestinal endoscopy, like all diagnostic and therapeutic techniques, must be preceded by written informed consent. The aim of this study was to evaluate the patients' acceptance and understanding of the aim of informed consent as well as to determine their perception of the investigation. METHODS: For 2 months, informed consent forms were given together with a questionnaire to 221 consecutive patients who underwent diagnostic gastrointestinal endoscopy. RESULTS: Distribution of the patients according to level of education was: university graduated (6.5%), high-school graduate (21.1%) those who had completed primary school (48.6%) and those with no schooling (23.9%). The document was read by 144 patients (65.1%) and the attending physician had previously explained it to 69.6%. Informed consent was understood by 90.7% of the patients who read the document. Understanding was related to education (university and high-school graduates (83.3%) vs. those who had completed primary school or who had no schooling (60%); p < 0.005) and was not related to the information given by the attending physician. Patients' opinion on the aim of informed consent was: absolve the doctor of responsibility (42%), provide information in the patients' interests (51.1%) and senseless document (42%). Signing the document provoked fear in 20% of those surveyed. This fear was greater in patients who had not been informed by the attending physician (31.2% vs. 14.5%; p > 0.01). CONCLUSIONS: Informed consent is understood by most patients who read the form but a significant proportion perceive it as designed to defend the physician. When the technique is explained by the attending physician and the doctor performing the procedure, acceptance is increased and fear is reduced.

[The endoscopic placement of self-expanding metal prostheses as palliative treatment in colorectal stenosis of tumor origin]. / Colocación de prótesis metálicas autoexpandibles por vía endoscópica como tratamiento paliativo en estenosis colorrectales de origen tumoral.

BACKGROUND: The aim of this study was to retrospectively analyze the endoscopic placement of autoexpandible metallic prostheses of the colon carried out in our department as palliative treatment in patients with colorectal stenosis of tumoral origin. PATIENTS AND METHODS: From may, 1995 to august, 1998, autoexpandible metallic prostheses were placed in 14 patients (11 males and 3 females, mean age 64.5 years, range 41-92). All the patients presented tumoral stenosis by adenocarcinoma, 5 of which had been previously treated by surgery. RESULTS: All the stenoses were found in the rectum/sigma at less than 35 cm from the anal margin. In 7 patients endoscopic dilatation was performed prior to placement of the autoexpandible metallic prostheses. The prostheses used had a diameter of 18 mm and were of variable length. The placement of the prostheses was successfully achieved in all the patients except 2 (one due to technical difficulties and in the other because of early migration of the same, in both the autoexpandible metallic prostheses was placed without complications within 24 h). In two cases early complications were observed (14%): one case due to perforation and one to early migration. In two patients stenosis of the prostheses was observed during follow up and in a third patient late migration occurred. CONCLUSIONS: Endoscopic placement of autoexpandible metallic prostheses in patients with colorectal stenosis of tumoral origin is a simple technique with few complications and may be used as a definitive palliative treatment in these patients.

[Orthotopic hepatic transplant in chronic hepatopathy of alcoholic origin]. / Trasplante hepático ortotópico en hepatopatía crónica de origen etílico.

Liver transplantation for alcoholic cirrhosis remains controversial at some transplantation centers. We compared resource utilization and outcome in alcoholic and non-alcoholic cirrhotic patients undergoing liver transplantation. From April 1990 to November 1994, 60 patients received orthotopic liver transplants for end-stage alcoholic liver disease, and 119 transplants were performed in 103 patients for non-alcoholic liver disease. No significant differences were noted in resource utilization of the variables examined. The outcome of liver transplantation (early graft function, frequency of sepsis, incidence of rejection, renal function, arterial hypertension...) was equivalent or better in alcoholic patients. Postoperative mortality was higher in non-alcoholic population (25.2% vs 16.7%). One-year and three year actuarial survival was not significantly different, but it was higher in the alcoholic group (77% vs 67% and 74% vs 64% respectively). The recurrence rate of alcohol in take has been 9.09%, with most patients drinking only socially. We conclude that liver transplantation for end-stage alcohol-related cirrhosis provides excellent results and resource utilization appears to be equivalent to that for patients undergoing transplantation for non-alcohol-related cirrhosis.

[Cytomegalovirus infection as a cause of granulomatous hepatitis in an immunocompetent patient]. / Infección por citomegalovirus como causa de hepatitis granulomatosa en paciente inmunocompetente.

We report the case of an immunocompetent young male with granulomatous hepatitis in relation with cytomegalovirus. We discuss clinical and histopathological features of hepatitis by cytomegalovirus in immunocompetent and immunosuppressed patients.

[Ischemic hepatitis following liver biopsy in a patient with transplanted liver]. / Hepatitis isquémica tras biopsia hepática en paciente transplantada hepática.

We report a case of ischemic hepatitis following a percutaneous liver biopsy in a 51 year old female patient, who had had an orthotopic liver transplant 6 months before. The angiographic study demonstrated a marked stenosis in the hepatic artery at the anastomosis site and a small arterioportal fistula. We suggest that the percutaneous liver biopsy was partially responsible for the ischemic hepatitis, due to the development of a small arterioportal fistula in a previously damaged vascular area with hepatic artery stenosis.

[Severe complications of percutaneous hepatic biopsy in patients with orthotopic liver transplantation]. / Complicaciones graves de la biopsia hepática percutánea en los pacientes con trasplante hepático ortotópico.

The incidence and type of complications appearing following the performance of liver biopsies were analyzed in the first 166 liver transplants in our hospital. The presence of a severe complications was defined if a patient presented hemoperitoneum, pneumothorax, hemothorax, post biopsy infection or symptomatic puncture of abdominal organs other than the liver. Four hundred thirty-eight liver biopsies were carried out in 129 patients with a mean of 3.4 biopsies per patient. The severe complications were observed in 7 (1.6%), all of which were bleeding episodes. Four hemothorax requiring the placement of a thoracic drainage tube were observed. In two cases thoracotomy was required with death occurring in one patient. Three hemoperitoneum were also seen requiring laparotomy in one and transfusion in the remaining two patients. Out of the non transplanted patients, four presented severe complications (0.7%), 50% of which were hemoperitoneum. No patient presented hemothorax and no deaths were reported. The authors conclude that the incidence of severe post liver biopsy complications in transplanted is low, similar to that reported in non transplanted patients. Nonetheless, there does appear to be a higher incidence of bleeding complications in the transplanted patients.

[Tracheoesophageal fistula secondary to endoscopic sclerotherapy of esophageal varices]. / Fístula traqueoesofágica secundaria a escleroterapia endoscópica de varices esofágicas.

Over the past 15 years, endoscopic variceal sclerotherapy (EVS) has become the main therapy for patients with bleeding esophageal varices. EVS has the advantage of a low associated mortality and morbidity, but may lead to serious complications. We report a case of esophagotracheal fistula complicating sclerotherapy that resolved with nonsurgical management.

[Cholestatic hepatitis caused by glybenclamide in a patient with hepatitis C virus]. / Hepatitis colestática por glibenclamida en paciente con virus de hepatitis C.

We report the case of a 68-year-old male HVC+ diagnosed as cholestatic hepatitis induced by glybenclamide, following a non-insulin dependent diabetes mellitus treatment. When the drug was discontinued normal analytic parameters were obtained. However, HVC may induce more cholestatic and cytolysic changes on the hepatitis due to glybenclamide. When reviewing the literature only one similar case has been previously reported, although several disturbances in liver function tests have been described in other reports. Routine biochemical tests including liver function are indicated in patients receiving antidiabetic agents in order to make an early diagnosis of liver toxicity.

[Mixed cryoglobulinemia associated with hepatitis C virus]. / Crioglobulinemia mixta asociada al virus de la hepatitis C.

We report six cases of essential mixed cryoglobulinemia associated with chronic liver disease and positive HCV markers, who showed several acute symptoms of vasculitis, arthralgias, neuropathy and glomerulonephritis. The presence in the serum and cryoprecipitates of anti HCV antibodies detected by the second-generation ELISA (ELISA 2) and the of HCV RNA by PCR in the serum in all six cases, suggest an important role for this virus in the pathogenesis of mixed cryoglobulinemia.