Diagnosis and clinical behavior in patients with Lynch-like syndrome. / Diagnóstico y comportamiento clínico de pacientes con sospecha de síndrome de Lynch sin mutación conocida.

INTRODUCTION AND AIMS: Lynch-like syndrome is diagnosed when there is an expression deficit in DNA mismatch repair proteins but a normal genetic study. The behavior and management of that pathology are currently a subject of debate. We present herein the characteristics of patients with Lynch-like syndrome, together with a surveillance proposal. MATERIALS AND METHODS: Immunohistochemistry was carried out on families suspected of presenting with Lynch syndrome. Germline analysis was done if there was loss of mismatch repair protein expression and no BRAF mutation. RESULTS: Of the 148 patients that underwent immunohistochemistry testing, 23 presented with loss of mismatch repair protein expression. Seven of those patients were identified as having Lynch-like syndrome: 3had colon cancer, 2had endometrial tumor, and 2were healthy, with an affected relative. Mean patient age was 56.9 years and only one patient presented with another tumor associated with Lynch syndrome. CONCLUSIONS: Until there is a better understanding of the etiology of that heterogeneous entity, intermediate surveillance is an adequate strategy.

Budesonide combined with ursodeoxycholic acid in primary biliary cirrhosis with advanced liver damage.

We describe two patients with primary biliary cirrhosis who rapidly suffered progressive liver failure and developed jaundice, despite having undergone correct therapy using ursodeoxycholic acid. Both cases showed an extraordinary clinical and biochemical response 2 months after budesonide was added to standard therapy, leading to recovery of normal liver function.

Radiofrequency ablation for hepatocellular carcinoma and liver metastases: experience in Hospital La Paz

INTRODUCTION: Radiofrequency ablation for patients presenting with non-resectable primary or metastatic liver tumours seems to be a valid therapeutic alternative. In the present study, we show a descriptive list of indications, results and complications of Radiofrequency Ablation Technique for treating non-resectable solid hepatic tumours. MATERIALS AND METHODS: Twenty two patients were included in this study; eleven of them (50%) sustained liver metastases from colorectal adenocarcinoma, ten patients (45.5%) had hepatocellular carcinoma and 1 patient had insulinoma. RESULTS: Local recurrence rate of hepatocellular carcinoma was 22.7% and 27.3% for colorectal carcinoma, after a respective median follow-up of 21 and 14 months. Complications rate was 6.9% and technique-associated mortality rate was 0%. CONCLUSIONS: Radiofrequency ablation is an easy to make, safe and useful technique for the treatment of primary and metastatic liver tumours (AU)

Pancreatitis aguda leve y déficit de proteína C como causas de trombosis venosa mesentérica / Acute pancreatitis and protein C deficiency as a cause of mesenteric venous thrombosis

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Eosinofilia y enteritis actínica secundarias a radioterapia por adenocarcinoma de próstata / Eosinophilia and actinic enteritis due to radiotherapy for prostatic adenocarcinoma

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Eosinophilic esophagitis in adults, an emerging cause of dysphagia. Description of 9 cases.

BACKGROUND: Eosinophilic esophagitis is a rare condition mainly affecting children, although the number of cases reported in adults is on the increase. It is characterized by intense infiltration of eosinophilic leukocytes in the esophageal mucosa, without involvement of other sections of the alimentary canal. MATERIAL AND METHODS: Over the past year, following the performance of endoscopies and biopsies, our service identified nine patients who were diagnosed with suffering from this disorder. Each patient sought medical help for episodes of long-term, self-limited dysphagia or food impaction in the alimentary canal. RESULTS: Endoscopy revealed esophageal stenosis in the form of simultaneous contraction rings or regular stenosis. In six cases, the manometric study showed a nonspecific motor disorder of severe intensity affecting the esophageal body, and another patient had a disorder characterized by the presence of simultaneous waves and secondary peristaltic waves in the three thirds of the organ. These disorders are presumably due to eosinophilic infiltration of the muscular layer or ganglionar cells of the esophagus, and account for symptoms in these patients. Although the etiopathogenesis of this illness is uncertain, it is clearly an immunoallergic manifestation. CONCLUSIONS: As the number of diagnosed cases is on the increase, eosinophilic esophagitis is in adults a specific entity within the differential diagnosis of dysphagia in young males with a history of allergies. Eosiniphilic esophagitis responds in a different number of ways to therapies used. We successfully used fluticasone propionate, a synthetic corticoid applied topically, which proved to be efficient in the treatment of this illness by acting on the pathophysiological basis of the process. It does not have any adverse effects, thus offering advantages over other therapies such as systematic corticoids or endoscopic dilations.

Esofagitis eosinofílica del adulto, causa emergente de disfagia. Presentación de 9 casos / Eosinophilic esophagitis in adults, an emerging cause of dysphagia. Description of 9 cases

Introducción: la esofagitis eosinofílica es una enfermedad poco frecuente, propia de la edad pediátrica, aunque cada vez son más los casos descritos en pacientes adultos. Se caracteriza por la intensa infiltración de la mucosa esofágica por leucocitos eosinófilos, en ausencia de afectación de otros tramos del tubo digestivo. Material y métodos: en nuestro servicio hemos identificado durante el último año a 9 pacientes que fueron diagnosticados de esta entidad tras la endoscopia y toma de biopsias. Todos consultaron por episodios de disfagia autolimitada de larga evolución o por impactación de alimento en esófago. En la endoscopia se observaron estenosis esofágicas, en forma de anillos de contracción simultánea o estenosis regulares. Resultados: el estudio con manometría esofágica demostró la existencia de un trastorno motor de cuerpo esofágico de tipo inespecífico e intensidad severa en 6 casos, y en otro paciente un trastorno caracterizado por la presencia de ondas simultáneas en los tres tercios del órgano y ondas secundarias peristálticas. Dichos trastornos son debidos presumiblemente a la infiltración eosinofílica de la capa muscular o de las células ganglionares del esófago, y justifican los síntomas de estos pacientes. Conclusiones: aunque la etiopatogenia de la enfermedad no es bien conocida, parece claro que se trata de una manifestación inmunoalérgica. Su prevalencia diagnóstica está en aumento, por lo que la esofagitis eosinofílica del adulto es una entidad específica en el diagnóstico diferencial de la disfagia en varones jóvenes con antecedentes de alergia. La esofagitis eosinofílica presenta una respuesta variable a las terapias utilizadas. Nosotros hemos utilizado con éxito el propionato de fluticasona, un corticoide sintético de aplicación tópica, eficaz en el tratamiento de esta entidad al actuar sobre la base fisiopatológica del proceso. Carece de efectos adversos, por lo que presenta ventajas frente a otras terapias como los corticiodes sistémicos o las dilataciones endoscópicas

Background: eosinophilic esophagitis is a rare condition mainly affecting children, although the number of cases reported in adults is on the increase. It is characterized by intense infiltration of eosinophilic leukocytes in the esophageal mucosa, without involvement of other sections of the alimentary canal. Material and methods: over the past year, following the performance of endoscopies and biopsies, our service identified nine patients who were diagnosed with suffering from this disorder. Each patient sought medical help for episodes of long-term, self-limited dysphagia or food impaction in the alimentary canal. Results: endoscopy revealed esophageal stenosis in the form of simultaneous contraction rings or regular stenosis. In six cases, the manometric study showed a nonspecific motor disorder of severe intensity affecting the esophageal body, and another patient had a disorder characterized by the presence of simultaneous waves and secondary peristaltic waves in the three thirds of the organ. These disorders are presumably due to eosinophilic infiltration of the muscular layer or ganglionar cells of the esophagus, and account for symptoms in these patients. Although the etiopathogenesis of this illness is uncertain, it is clearly an immunoallergic manifestation. Conclusions: as the number of diagnosed cases is on the increase, eosinophilic esophagitis is in adults a specific entity within the differential diagnosis of dysphagia in young males with a history of allergies. Eosiniphilic esophagitis responds in a different number of ways to therapies used. We successfully used fluticasone propionate, a synthetic corticoid applied topically, which proved to be efficient in the treatment of this illness by acting on the pathophysiological basis of the process. It does not have any adverse effects, thus offering advantages over other therapies such as systematic corticoids or endoscopic dilations