Tumor gástrico de colisão: adenocarcinoma associado a tumor carcinoide

Relato de caso de paciente masculino, 62 anos, com quadro de dor epigástrica e perda ponderal. A tomografia abdominal subsequente revelou lesão vegetante de 3,0 x 1,5 cm no antro gástrico. O paciente foi submetido à gastrectomia parcial com reconstrução em Y de Roux. Após análise anatomopatológica da peça cirúrgica, evidenciou-se tumor carcinoide maligno de 2,0 cm, associado a adenocarcinoma gástrico do tipo intestinal de Laurén e ausência de metástases linfonodais. A Imunohistoquímica confirmou estes achados. Esse caso é de grande importância para a literatura médica, visto que, ao nosso conhecimento, representa o nono relato de um tumor gástrico dotado dessas características

Gastric collision tumor : adenocarcinoma associated with carcinoid tumor

Relato de caso de paciente masculino, com 62 anos, com quadro de dor epigástrica e perda ponderal. A tomografia abdominal subsequente revelou lesão vegetante de 3,0 x 1,5 cm no antro gástrico. O paciente foi submetido à gastrectomia parcial com reconstrução em Y de Roux. Após análise anatomopatológica da peça cirúrgica, evidenciou-se tumor carcinoide maligno de 2,0 cm associado ao adenocarcinoma gástrico do tipo intestinal de Lauren e à ausência de metástases linfonodais. A imuno-histoquímica confirmou esses achados. Esse caso é de grande importância para a literatura médica, visto que, ao nosso conhecimento, representa o nono relato de um tumor gástrico dotado dessas características.A case report of a 62-year-old male patient with a history of epigastric pain and weight loss. A subsequent abdominal computed tomography (CT) scan revealed a vegetative lesion of 3.0 x 1.5 cm in the gastric antrum. The patient underwent partial gastrectomy with Rouxen- Y reconstruction. After anatomic pathological analysis of the surgical specimen, a 2-cm malignant carcinoid tumor, associated with a Lauren intestinal-type gastric adenocarcinoma and no lymph node metastasis, was detected. Immunohistochemistry confirmed these findings. This case is of great importance to the medical literature, because this report represents, to our knowledge, the ninth case of a gastric tumor with these characteristics reported in the literature

Detection of the E8SJM mutation in the LIPA gene, by real-time PCR, for the investigation of cholesteryl ester storage disease

Introducción: La enfermedad por Almacenamiento de Ésteres de Colesterol (CESD; Cholesteryl Ester Storage Disease) es una enfermedad de depósito lisosomal, su presentación es bastante variable y su diagnóstico constituye un desafío. Además, existe un número de anomalías observadas en los pacientes con CESD que se sobreponen a diagnósticos más comunes, siendo probable que sea subdiagnosticada. La mayoría de pacientes relatados hasta el momento son portadores de la mutación E8SJM en el gen LIPA. En este sentido, el auxilio en el diagnóstico es fundamental pues existen opciones de terapia en desarrollo. Diseño: Estudio observacional. Objetivo: Estandarizar la técnica de PCR en tiempo real para la detección de la mutación más frecuente, E8SJM, en muestras de sangre periférica y de biopsia hepática para el auxilio diagnóstico de CESD y futuros estudios de prevalencia de la mutación. Institución: Centro de Terapia Génica del Hospital de Clínicas de Porto Alegre (HCPA), Brasil. Material biológico: Muestras de ADN extraídas de sangre periférica y tejido hepático parafinado. Principales medidas de resultados: Presencia/Ausencia de la mutación E8SJM. Resultados: Se estandarizó la reacción de PCR en tiempo real, la mutación fue detectada correctamente y posteriormente validada por secuenciación de Sanger. La mutación fue analizada en 137 muestras y encontrada en apenas una paciente que ingresó al Servicio de Genética Médica del HCPA con diagnóstico clínico y bioquímico de CESD/Wolman. Conclusiones: La técnica de PCR en tiempo real es ideal para la detección rápida y en gran escala de la mutación frecuente asociada a CESD.Introduction: Cholesteryl Ester Storage Disease (CESD) is a lysosomal storage disorder, its presentation is highly variable and its diagnosis challenging. In addition, there are several abnormalities observed in patients with CESD who overlap with more common diagnoses and are likely to be underdiagnosed. Most patients reported to date are carriers of the E8SJM mutation in the LIPA gene. In this sense, diagnostic assistance is essential because there are options for therapy in development, as well as mutation prevalence studies. Design: Observational research. Objective: To standardize the real-time PCR technique for the detection of the most frequent mutation, E8SJM, in peripheral blood and liver biopsy specimens for the diagnosis of CESD and future mutation prevalence studies. Institution: Center of Gene Therapy of the Hospital de Clinicas de Porto Alegre (HCPA), Brazil. Biological material: DNA samples extracted from peripheral blood and paraffinembedded liver tissue. Main outcome measures: Presence / Absence of E8SJM mutation. Results: The PCR reaction was standardized in real time; the mutation was correctly detected and validated by Sanger sequencing. The mutation was analyzed in 137 samples and found in only one patient who entered the Medical Genetics Service of the HCPA with clinical and biochemical diagnosis of CESD/Wolman. Conclusions: The real-time PCR technique is ideal for rapid and large-scale detection of the frequent CESD-associated mutation

Topical hepatic hypothermia associated with ischemic preconditioning : histopathological and biochemical analysis of ischemia reperfusion damage in a 24 hour mode

Purpose: To develop a new 24 hour extended liver ischemia and reperfusion (LIR) model analyzing the late biochemical and histopathological results of the isolated and combined application of recognized hepatoprotective mechanisms. In addition, we used a new stratification with zoning to classify the histological lesion. Methods: A modified animal model of severe hepatic damage produced through 90 minutes of segmental ischemia (70% of the organ) and posterior observation for 24 hours of reperfusion, submitted to ischemic preconditioning (IPC) and topical hypothermia (TH) at 26ºC, in isolation or in combination, during the procedure. Data from intraoperative biometric parameters, besides of late biochemical markers and histopathological findings, both at 24 hours evolution time, were compared with control (C) and normothermic ischemia (NI) groups. Results: All groups were homogeneous with respect to intraoperative physiological parameters. There were no losses once the model was stablished. Animals subjected to NI and IPC had worse biochemical (gamma-glutamyl transpeptidase, alkaline phosphatase, lactate dehydrogenase, aspartate aminotransferase, alanine aminotransferase, direct bilirubin, and total bilirubin) and histopathological scores (modified Suzuki score) compared to those of control groups and groups with isolated or associated TH (p < 0.05). Conclusion: The new extended model demonstrates liver ischemia and reperfusion at 24 hour of evolution and, in this extreme scenario, only the groups subjected to topical hypothermia, combined with ischemic preconditioning or alone, had better outcomes than those subjected to only ischemic preconditioning and normothermic ischemia, reaching similar biochemical and histopathological scores to those of the control group

lmmunnoperoxidase method in the diagnosis of malignant undifferentiated neoplasms

Os autores examinaram retrospectivamente 3 7 neoplasias malignas indiferenciadas (NMI) através da técnica de imunoperoxidase, com um painel mínimo de anticorpos; antígeno comum leucocitário (LCA), proteína S100 e citoqueratina de baixo peso molecular (AE1). Apesar do material examinado não ter seguido previamente processamento técnico ideal, a sensibilidade obtida, de 57%, e a especificidade, de 100%, são plenamente satisfatórias.The authors made a retrospective study of 37 malignant undifferentiated neoplasms by immunoperoxidase method, employing a small antibody panel: leucocyte common antigens (LCAs), S100 protein, Keratin (AE1). Although the previous technical processing had been inadequate the sensitivity of 57% and specificity of 100% were considered completely satisfactory

Hepatic steatosis among people living with HIV in Southern Brazil : prevalence and risk factors

Chronic liver disease is an important cause of morbidity and mortality among people living with human immunodefciency virus (HIV) and is frequently related to non-alcoholic fatty liver disease (NAFLD). The objective is to estimate the prevalence and risk factors of hepatic steatosis among consecutive patients with stable HIV infection on antiretroviral therapy (ART). Also, the use of transient elastography (TE) as a mean to identify a subgroup at risk for non-alcoholic steatohepatitis (NASH) and/or liver fbrosis. HIV infected patients were enrolled between August2016 and February2017. Inclusion criteria: ≥18 years with undetectable HIV viral load. Exclusion criteria: pregnancy; alcohol intake ≥20g/day and co-infection B or C viruses. Patients underwent ultrasound (US) to diagnose liver steatosis. Signifcant fbrosis (≥F2) was estimated if at least one of the following were present: APRI>1.0, FIB4>3 and/ or liver stifness ≥7.1kPa. Subjects with TE≥7.1kPa were proposed a liver biopsy and NAFLD Scoring System (NAS)≥3 was considered as diagnosis of NASH. A total of 98 patients were included. Liver steatosis was diagnosed in 31 patients (31.6%) and was independently associated with male gender, BMI, ALT and total bilirubin levels. The prevalence of signifcant fbrosis assessed by TE, APRI and FIB4 was 26.9%, 6.4% and 3.2%, respectively. Seven patients had a TE result ≥7.1kPa. NASH was found in 5 (83.3%). Among HIV infected patients undergoing ART, almost one third have NAFLD. Neither TE, APRI or FIB4 were able to act as surrogates for signifcant liver fbrosis. Nevertheless, TE≥7.1kPa was able to accurately select a subgroup of patients at risk for NASH

Sinusoidal obstruction syndrome secondary the intake of Senecio brasiliensis : a case report

Hepatic sinusoidal obstruction syndrome (HSOS) is a hepatic vascular disease histologically characterized by edema, necrosis, detachment of endothelial cells in small sinusoidal hepatic and interlobular veins and intrahepatic congestion, which leads to portal hypertension and liver dysfunction. In the Western world, most HSOS cases are associated with myeloablative pretreatment in a hematopoietic stem cell transplantation setting. Here we report a case of a 54 years old female patient, otherwise healthy, with no history of alcoholic ingestion, who presented with jaundice and signs of portal hypertension, including ascites and bilateral pleural effusion. She had no history of liver disease and denied any other risk factor for liver injury, except Senecio brasiliensis ingestion as a tea, prescribed as a therapy for menopause. Acute viral hepatitis and thrombosis of the portal system were excluded in complementary investigation, as well as sepsis, metastatic malignancy and other liver diseases, setting a RUCAM score of 6. Computed tomography demonstrated a diffuse liver parenchymal heterogeneity (in mosaic) and an extensive portosystemic collateral venous circulation, in the absence of any noticeable venous obstruction. HSOS diagnosis was confirmed through a liver biopsy. During the following-up period, patient developed refractory pleural effusion, requiring hemodialysis. Right before starting anticoagulation, she presented with abdominal pain and distention, with findings compatible of mesenteric ischemia by computed tomography. A laparotomy was performed, showing an 80 cm segment of small bowel ischemia, and resection was done. She died one day after as a result from a septic shock refractory to treatment. The presented case was related to oral intake of S. brasiliensis, a plant containing pyrrolidine alkaloids, which are one of the main causes of HSOS in the East, highlighting the risk of liver injury with herbs intake