Nanopartículas calcificantes como factor etiológico del desarrollo de hiperplasia y calcificación vascular / Calcifying nanoparticles in the aetiology of hyperplasia and calcification

OBJETIVO: Nanopartículas calcificantes (NP) se han detectado recientemente en muestras arteriales humanas y parecen estar involucradas en el proceso de calcificación. Este estudio fue diseñado para probar la hipótesis de que las NP de origen humano podrían agravar la respuesta a la lesión arterial endotelial e inducir la calcificación vascular. MÉTODOS: La arteria carótida derecha de 24 conejos neozelandeses fue lesionada con un balón de angioplastia. Los animales fueron perfundidos por vía intravenosa con solución salina (100 ml) durante el experimento y se dividieron en 3 grupos: grupo A, control; grupo B, expuesto a NP (2 ml) obtenidas a partir de válvulas aórticas calcificadas y el grupo C, expuesto a NP (2 ml) y tratado después de la operación con atorvastatina (2,5 mg/kg/24 h). A los 30 días, los animales fueron sacrificados y se extirparon las 2 arterias carótidas, que fueron examinadas histológicamente. Análisis bioquímicos de sangre fueron realizados durante el estudio. RESULTADOS: El área de hiperplasia intimal fue significativamente mayor en la arteria carótida derecha lesionada en comparación con la arteria carótida izquierda no operada, en todos los grupos. No hubo variación significativa en la zona medial entre los animales. Morfométricamente, la relación de íntima/media (IMR) fue significativamente mayor en las carótidas dañadas en comparación con los controles. Un aumento significativo de IMR se encontró en el grupo B (1,81 ± 0,41) en comparación con el grupo A (0,38 ± 0,59; p = 0,004) o el grupo C (0,89 ± 0,79; p = 0,035). Las diferencias entre los grupos C y A no fueron significativas (p = 0,064). Se observaron calcificaciones en 6 animales, todos los cuales habían sido expuestos a NP (4 en el grupo B, 2 en el grupo C, p = 0,027). Los niveles plasmáticos de colesterol y triglicéridos se mantuvieron estables. CONCLUSIONES: Este estudio confirma la capacidad de las NP de origen humano de acelerar la hiperplasia y estimular la calcificación de zonas arteriales endoteliales previamente dañadas. Su administración sistémica resultó inofensiva en las arterias sanas. La atorvastatina demostró la capacidad de ralentizar este proceso

OBJECTIVE: Calcifying nanoparticles (NP) have been detected recently in calcified human arterial specimens, and are involved in the process of calcification. This study was designed to test the hypothesis that human-derived NP could worsen the response to arterial endothelial injury and induce vascular calcification. METHODS: The right carotid artery of 24 New Zealand rabbits was injured with an angioplasty balloon. Animals were perfused intravenously with saline (100 mL) during the experiment and divided into 3 groups: group A, control; group B, exposed to NP (2 mL) obtained from calcified aortic valves; and group C, exposed to NP (2 mL) and treated post-operatively with atorvastatin (2.5 mg/kg/24 h). At 30 days, both carotid arteries were removed and examined histologically. Blood measurements were monitored during the study. RESULTS: The intimal hyperplasia area was significantly larger in the injured right carotid artery compared with the left un-operated carotid artery in all groups. There was no significant variation in medial area between groups. Morphometrically, the intima/media ratio (IMR) was significantly higher in damaged carotids compared with controls. A significant increase in the IMR was found in group B (1.81 ± 0.41) compared with group A (0.38 ± 0.59; P=.004) or group C (0.89 ± 0.79; P=.035). Differences between groups C and A were not significant (P=.064). Calcifications were observed in 6 animals, all of which had been exposed to NP (4 in group B, and 2 in group C, P=.027). Plasma levels of cholesterol and triglycerides remained stable. CONCLUSIONS: his study confirms the ability of systemic inoculation of human-derived NP to accelerate hyperplasia and stimulate calcification in localised areas of arteries previously submitted to endothelial damage, while it was harmless in healthy arteries. Atorvastatin was demonstrated to slow down this process

Role of calcifying nanoparticle in the development of hyperplasia and vascular calcification in an animal model.

OBJECTIVE: Calcifying nanoparticles (NPs) have been detected recently in calcified human arterial specimens and are involved in the process of calcification. This study was designed to test the hypothesis that human-derived NPs could worsen the response to arterial endothelial injury and induce vascular calcification. METHODS: The right carotid artery of 24 New Zealand rabbits was injured with an angioplasty balloon. Animals were perfused intravenously with saline (100 mL) during the experiment and divided into three groups: group-A, control; group-B, exposed to NPs (2 mL) obtained from calcified aortic valves; and group-C, exposed to NPs (2 mL) and treated postoperatively with atorvastatin (2.5 mg/kg/24 h). At 30 days, both carotid arteries were removed and examined histologically. Blood measurements were monitored during the study. RESULTS: The intimal hyperplasia area was significantly larger in the injured right carotid artery compared with the left unoperated carotid artery in all groups. There was no significant variation in medial area between groups. Morphometrically, the intima/media ratio (IMR) was significantly higher in damaged carotids compared with controls. A significant increase of IMR was found in group-B (1.81 ± 0.41) compared with group-A (0.38 ± 0.59; p = .004) or group-C (0.89 ± 0.79; p = .035). Differences between groups C and A were not significant (p = .064). Calcifications were observed in six animals, all of which had been exposed to NPs (4 in group-B, 2 in group-C, p = .027). Plasma levels of cholesterol and triglycerides remained stable. CONCLUSIONS: This research confirms the ability of systemic inoculation of human-derived NPs to accelerate hyperplasia and stimulate calcification in localized areas of arteries previously submitted to endothelial damage, while it was harmless in healthy arteries. Atorvastatin was demonstrated to slow down this process.

Micosis fungoide papular en las piernas, a propósito de un caso / Papular Mycosis Fungoides on the Legs: A Case Report

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[Gastrointestinal stromal tumors (GISTs): clinical aspects]. / Tumores de la estroma gastroinestinal (GIST): aspectos clínicos.

INTRODUCTION: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal tract. One of their features is the expression of the c-KIT/CD117 receptor. AIMS AND METHODS: We will focus on describing the symptoms, clinical studies prior to diagnosis, histologic and immunohistochemical characteristics, as well as the progression of disease in a group of patients. RESULTS: Seventeen cases were diagnosed between December 1999 and April 2005. Mean age of patients was 64.5 (+/-11.9); 47% were women. Tumor location was as follows: 52.9% in the jejunum or ileum, 29.4% were gastric, 11.7% were in the duodenum, and 5.8% were located in the mesentery. Tumor size was 6.0 cm on average (+/-5.0); 47% were asymptomatic, and to a lesser degree caused abdominal pain or digestive bleeding; 94.1% of tumors expressed CD117. Most of them were discovered while performing a laparotomy or ultrasound scan; 94.1% of tumors were removed; 35.2% (6 out of 17) of patients suffering from GIST met consensus criteria for aggressive behavior. Over 25.6 months (+/-22.5) metastasis or tumor relapse occurred in 23.5% (4 out of 17) of patients--those with more frequent high-risk criteria, symptomatic and bigger tumors, and tumors not expressing CD117. The three patients with tumor relapse were prescribed imatinib mesylate. Three patients died because of the tumor, and four from other causes unrelated to GIST. CONCLUSIONS: GIST was diagnosed in around 12 cases per million a year. Its diagnosis was usually an incidental finding during a medical evaluation, and tumors were malignant in nearly one fourth of cases. We can predict its outcome depending on different aspects.

Tumores de la estroma gastrointestinal (GIST): aspectos clínicos / Gastrointestinal stromal tumors (GISTs): Clinical aspects

Introducción: los tumores GIST son los tumores mesenquimales más frecuentes del tubo digestivo. Se caracterizan por la expresión del receptor c-KIT/CD 117. Objetivos y métodos: pretendemos describir las manifestaciones clínicas, las exploraciones que llevan al diagnóstico, los aspectos histológicos e inmunohistoquímicos, la evolución y factores predictores de esta a partir de una serie de pacientes. Resultados: se han diagnosticado 17 casos de GIST entre diciembre de 1999 y abril de 2005. La edad media de los pacientes fue 64,5 años (± 11,9). El 47% eran mujeres. La localización de los tumores por paciente fue: yeyuno-íleon en el 52,9%, gástrica en el 29,4%, duodenal en el 11,7% y mesentérica en el 5,8%. Los tumores medían 6,0 cm (± 5,0). El 47% eran tumores asintomáticos, menos frecuentemente produjeron dolor abdominal o hemorragia digestiva. El 94,1% de los tumores expresaba CD 117. Se diagnosticaron principalmente durante una laparotomía o con ecografía. Se extirparon el 94,1% de los tumores. En el 35,2% (6/17) de los pacientes había criterios de alto riesgo de malignidad según el consenso establecido. A lo largo de 25,6 meses (± 22,5) las metástasis o la recidiva tumoral se dieron en el 23,5% (4/17) de los pacientes y en estos fueron más frecuentes: los criterios de alto riesgo, los tumores sintomáticos, los de mayor tamaño y los que no expresan CD 117. Los tres pacientes con recidiva recibieron imatinib mesilato. Tres pacientes fallecieron por causa del tumor. Otros 4 pacientes fallecieron por otras causas no relacionadas con el GIST. Conclusiones: se diagnosticaron aproximadamente 12 casos por millón de habitantes y año. Su diagnóstico con frecuencia es casual. Son malignos en cerca de la cuarta parte de los casos. Existe la posibilidad de predecir la evolución en función de diferentes aspectos

Introduction: gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal tract. One of their features is the expression of the c-KIT / CD117 receptor. Aims and methods: we will focus on describing the symptoms, clinical studies prior to diagnosis, histologic and immunohistochemical characteristics, as well as the progression of disease in a group of patients. Results: seventeen cases were diagnosed between December 1999 and April 2005. Mean age of patients was 64.5 (± 11.9); 47% were women. Tumor location was as follows: 52.9% in the jejunum or ileum, 29.4% were gastric, 11.7% were in the duodenum, and 5.8% were located in the mesentery. Tumor size was 6.0 cm on average (± 5.0); 47% were asymptomatic, and to a lesser degree caused abdominal pain or digestive bleeding; 94.1% of tumors expressed CD117. Most of them were discovered while performing a laparotomy or ultrasound scan; 94.1% of tumors were removed; 35.2% (6 out of 17) of patients suffering from GIST met consensus criteria for aggressive behavior. Over 25.6 months (± 22.5) metastasis or tumor relapse occurred in 23.5% (4 out of 17) of patients – those with more frequent high-risk criteria, symptomatic and bigger tumors, and tumors not expressing CD117. The three patients with tumor relapse were prescribed imatinib mesylate. Three patients died because of the tumor, and four from other causes unrelated to GIST. Conclusions: GIST was diagnosed in around 12 cases per million a year. Its diagnosis was usually an incidental finding during a medical evaluation, and tumors were malignant in nearly one fourth of cases. We can predict its outcome depending on different aspects

¿Interesa a los oncólogos incorporarse con entusiasmo al mundo de las guías de práctica clínica? / Is a matter of interest to oncologist to join enthusiastically to the world of clinical practice guides?

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Tratamiento con opioides al alta de una Unidad de Cuidados Paliativos hospitalarios / No disponible

Objetivo: conocer las características del tratamiento analgésico con opioides mayores en el momento del alta de los pacientes con dolor oncológico de intensidad moderada-severa, y el grado de adecuación de la analgesia pautada a estos pacientes en el momento del ingreso. Pacientes y método: estudio observacional, descriptivo retrospectivo de los pacientes ingresados desde marzo de 2001 a junio de 2003. Utilización del programa estadístico SPSS. Resultados: ingresaron 119 pacientes de los cuales a 85 se les dio el alta, pautándose algún tipo de opioide mayor a 56 (65,5%) de la siguiente manera: morfina 7 pacientes (12,5%), fentanilo 48 (85,7%) y uno (1,8%) con otro opioide. La vía de administración principal fue oral en seis pacientes (10,7%), transdérmica en 48 (85,7%), y subcutánea en 2 (3,6%), utilizando un infusor subcutáneo. La dosis media de morfina prescrita fue de 85 mg/día (10-180) y la de fentanilo 61,5 mcg/72 horas (25-200). Conclusiones: un elevado porcentaje de pacientes se va de alta de nuestra Unidad en tratamiento con opioides mayores. El tratamiento preferido es el de fentanilo vía transdérmica, que se ha prescrito a dosis moderadas. Un elevado porcentaje de los pacientes con dolor moderado a intenso no estaba recibiendo la analgesia adecuada a su grado de dolor al llegar a nuestra Unidad (AU)

Aim: to assess the characteristics of analgesic treatment with major opioids upon the discharge of patients with moderate-severe oncological pain, and the adequacy of analgesics prescribed to these patients at the time of admission. Patients and method: a descriptive observational retrospective study of patients hospitalized from March 2001 to June 2003. We used the SPSS statistical program. Results: 119 patients were admitted and 85 of them were discharged. Major opioids were prescribed to 56 (65.5%) as follows: morphine 7 (12.5%) patients, fentanyl 48 (85.7%), and other opiod drug 1. The primary administration route was oral in 6 (10.7%), transdermal in 48 (85.7%), and using a subcutaneous infuser in 2 (3.6%). Mean doses for morphine were 85 (10-180) mg/day, and for fentanyl 61.5 (25-200) mcg/72 h. Conclusions: a high percentage of patients are discharged from our palliative care unit with major opioids for treatment. Fentanyl is the preferred drug, and is used via the transdermal route at moderate doses. A great percentage of patients with moderate-severe pain were subtreated regarding pain extent at admission

[Are the guidelines guiding us reliable? Evaluation of the Spanish clinical practice guidelines]. / Las guías que nos guían son fiables? Evaluación de las guías de práctica clínica españolas.

BACKGROUND AND OBJECTIVE: There is a large proliferation of clinical practice guidelines (CPG), there being doubts on inconsistencies between the recommendations made and internal incongruencies, that affect the role of the guidelines as instruments helping the clinicians. This study aims to analyze the quality of a group of Spanish CPG and to assess the feasibility of use and consistency of the AGREE Instrument in its Spanish version, designed to evaluate the CPG. METHOD: A total of 278 CPG produced in Spain between January 1990 and December 2002 were identified. The originals of 61 guidelines were recovered from their authors and passed to the AGREE Instrument independently by four raters. Quality of the guidelines feasibility and reproducibility of AGREE were analyzed. RESULTS: For all the attributes of AGREE except in the editorial independence, more than 60% of the guidelines evaluated obtained a poor quality score, there being no domain in which more than 10% of the guidelines was excellent. The worst grading areas are those of applicability, participation and rigour of development of the guidelines. Of the 61 guidelines evaluated, the reviewers graded 25 as "very poor quality", 26 as "non recommendable" and 6 and 4 as "recommendable" or "highly recommendable", respectively. Interrater consistency was high. CONCLUSIONS: The mean quality of the Spanish guidelines evaluated is very low. The AGREE Instrument in its Spanish version is consistent for the Spanish guidelines and easy to use.

¿Las guías que nos guían son fiables? Evaluación de las guías de práctica clínica españolas / Are the guidelines guiding us reliable? Evaluation of the Spanish clinical practice guidelines

Fundamento y objetivo. Hay gran proliferación de guías de práctica clínica (GPC), existiendo dudas sobre inconsistencias entre las recomendaciones que realizan e incongruencias internas que comprometen el papel de las guías como instrumentos de ayuda a los clínicos. El estudio pretende analizar la calidad de un conjunto de GPC españolas, así como valorar la factibilidad de uso y consistencia del Instrumento AGREE en su versión en español, diseñado para la evaluación de GPC. Método. Se identificaron 278 GPC producidas en España entre enero de 1990 y diciembre del 2002. Se recuperaron, mediante solicitud a sus autores, originales de 61 guías a las que se pasó el Instrumento AGREE de forma independiente por cuatro evaluadores. Se analizó la calidad de las guías, la factibilidad y reproducibilidad del AGREE. Resultados. Para todos los atributos del AGREE, excepto en la independencia editorial, más del 60% de las guías evaluadas obtienen una puntuación de mala calidad, no habiendo ningún dominio en el que más del 10% de las guías sea excelente. Las áreas de peor calificación son las de aplicabilidad, participación y rigor en el desarrollo de las guías. De las 61 guías evaluadas, los revisores a 25 las califican de «muy poco recomendables», a 26 de «no recomendables» y tan sólo a 6 y 4 guías como «recomendables» o «muy recomendables», respectivamente. La consistencia entre evaluadores fue alta. Conclusiones. La calidad media de las guías españolas evaluadas es muy baja. El Instrumento AGREE, en su versión en español es consistente para las guías españolas y de uso fácil

Background and objective. There is a large proliferation of clinical practice guidelines (CPG), there being doubts on inconsistencies between the recommendations made and internal incongruencies, that affect the role of the guidelines as instruments helping the clinicians. This study aims to analyze the quality of a group of Spanish CPG and to assess the feasibility of use and consistence of the AGREE Instrument in its Spanish version, designed to evaluate the CPG. Method. A total of 278 CPG produced in Spain between Jannuary 1990 and December 2002 were identified. The originals of 61 guidelines were recovered from their authors and passed to the AGREE Instrument independently by four raters. Quality of the quidelines feasibility and reproducibility of AGREE were analyzed. Results. For all the attributes of AGREE except in the editorial independence, more than 60% of the guidelines evaluated obtained a poor quality score, there being no domain in which more than 10% of the guidelines was excellent. The worst grading areas are those of applicability, participation and rigour of development of the guidelines. Of the 61 guidelines evaluated, the reviewers graded 25 as «very poor quality», 26 as «non recommendable» and 6 and 4 as «recommendable» or «highly recommendable», respectively. Interrater consistency was high. Conclusions. The mean quality of the Spanish guidelines evaluated is very low. The AGREE Instrument in its Spanish version is consistent for the Spanish guidelines and easy to use

[Spermatic cord liposarcoma. Association with prostate cancer. Report of a case and review of literature]. / Liposarcoma de cordón espermático. Asociación con carcinoma de próstata. Comunicación de un caso y revisión de la literatura.

Spermatic Cord Liposarcoma are uncommon soft tissue neoplasm. Association with others tumors is so exceptional. We describe and relation between liposarcoma and prostate cancer in a 66 years old patient who had a left paratesticular tumor with low speed growth and 12 cm of length; nodule in prostate gland was detected. Ecography demostrate an hipoecoic tumor in the spermatic cord; Prostate Specific Antigen (PSA) was 1276 ng./ml. and bone gammagraphy reported metastatic lesions. We made an radical orquiectomy and pathological diagnosis including inmunohistoquimical process was sclerosing dedifferenciated liposarcoma. We discuss clinical and pathologic behaviour of this lesions and diagnosis and treatment options.

Carcinoma de células en anillo de sello extramamario tras cáncer de mama: ¿cuándo se trata realmente de un segundo primario? / Extra-mammary signet-ring cell carcinoma after breast cancer: when are we dealing really with a second primary?

• Propósito: Es frecuente que los cánceres de mama presenten áreas de diferenciación celular en anillo desello. Además, este subtipo celular puede estar presente en las metástasis y no aparecer en el tumor primario.• Material y métodos: Presentamos dos pacientes tratadas por cáncer de mama que desarrollaron tumorescon células en anillo de sello, gástrico y endocervical respectivamente, que fueron considerados inicialmentecomo segundos tumores primarios.• Resultados: En ambos casos, el estudio inmunohistoquímico encontró receptores hormonales en las célulasen anillo de sello, lo que orientó al diagnóstico de metástasis de cáncer de mama.• Conclusiones: El cáncer de mama puede desarrollar metástasis con células en anillo de sello. La presenciade receptores hormonales en estas células tiene una especificad cercana al 100% en el diagnóstico diferencialentre metástasis de cáncer de mama y tumor de origen digestivo

• Purpose: The majority of breast cancers show areas of signet-ring cell differentiation. In addition, thiscellular subtype may be present in the metastases even when it does not appear in the primary tumour.• Material and methods: We report two patients treated for breast cancer developing signet-ring celltumours of gastric and endocervical localization, respectively, that were initially considered as second primarytumours.• Results: In both cases, the immunohistochemical analysis of the signet-ring cells proved to be positivefor hormone receptors, confirming them as breast cancer metastases.• Conclusions: Ductal and lobular breast cancer may produce distant metastases with signet-ring cells.The presence of specific hormone receptors reaches almost 100% and represents a reliable differentialdiagnosis between breast cancer metastases and gastrointestinal signet-ring cell carcinomas

Liposarcoma de cordón espermático. Asociación con carcinoma de próstata. Comunicación de un caso y revisión de la literatura / Spermatic cord liposarcoma. Association with prostate cancer. Report of a case and review of literature

Los liposarcomas de cordón espermático son tumores de origen mesenquimal de presentación muy poco frecuente. La asociación con otros tumores es aun más excepcional. Se presenta un caso clínico de asociación de esta patología con carcinoma de próstata en un paciente de 66 años que consulta por una masa paratesticular izquierda de lento crecimiento con un tamaño aproximado de 12 cm y un nódulo pétreo en próstata; la Ecografía informa de una masa hipoecoica con áreas de menor ecogenicidad que depende del cordón espermático; el Antígeno Prostático Específico (PSA) es de 1276 ng/ml y en la gammagrafía ósea se observan múltiples lesiones metastásicas. La tumoración es resecada realizando una orquiectomía radical y el resultado de anatomía patológica incluyendo pruebas inmunohistoquímicas concluyen liposarcomades diferenciado variedad esclerosante. Se discuten las características generales y anatomopatológicas de estos tumores, así como el diagnóstico y las opciones de tratamiento (AU)

Spermatic Cord Liposarcoma are uncommon soft tissue neoplasm. Association with others tumors is so exceptional. We describe and relation between liposarcoma and prostate cancer in a 66 years old patient who had a left paratesticular tumor with low speed growth and 12 cm of length; nodule in prostate gland was detected. Ecography demostrate an hipoecoic tumor in the spermatic cord; Prostate Specific Antigen (PSA) was 1276 ng./ml. and bone gammagraphy reported metastatic lesions. We made an radical orquiectomy and pathological diagnosis including inmunohistoquimical process was sclerosing dedifferenciated liposarcoma. We discuss clinical and pathologic behaviour of this lesions and diagnosis and treatment options (AU)

Sobrecarga de hierro y genotipo 3 se asocian a la presencia de esteatosis en la hepatitis C / No disponible

Objetivo: determinar los factores epidemiológicos, analíticos, virológicos e histológicos a los que se asocia la esteatosis en la hepatitis C. Pacientes: se revisaron de forma retrospectiva 53 historias clínicas de pacientes biopsiados consecutivamente desde junio de 2000 a diciembre de 2002. Se excluyeron pacientes con otros virus. Se revisaron las biopsias hepáticas de forma protocolizada. Se obtuvieron los datos epidemiológicos, analíticos y virológicos. La talla y el peso de los pacientes se recogieron en el momento de la biopsia hepática. Se estudió la asociación estadística de las variables cualitativas y cuantitativas con la presencia de esteatosis y se realizó un análisis multivariante. Resultados: se identificó esteatosis en el 52% de las biopsias. No hubo asociación estadísticamente significativa con edad, sexo, vía de contagio, tiempo de evolución, ingesta de alcohol, presencia de enfermedades asociadas, índice de masa corporal, glucosa, triglicéridos, colesterol, AST, ALT, GGT, FA, bilirrubina, carga viral. Se asoció a mayor sideremia, IST y ferritina. Se demostró asociación con el genotipo 3. La esteatosis se asoció a necrosis piecemeal, degeneración hepatocelular, hiperplasia de células de Kupffer, hierro hepático y fibrosis portal. El hierro hepático, la hiperplasia de las células de Kupffer y el genotipo 3 se asociaron de manera independiente a la esteatosis hepática. Conclusiones: la esteatosis en la hepatitis C se asocia a la infección por genotipo 3, a la hiperplasia de las células de Kupffer y a sobrecarga de hierro. También se asocia a mayor inflamación y fibrosis por lo que debe ser considerada factor agravante (AU)

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[Adult Wilms' tumor]. / Tumor de Wilms del adulto.

Wilms' tumor is a malignant embryonic renal neoplasm that is exceptional in adults. There are not clinical data or radiographic investigations that can distinguish it from renal cell carcinoma. So the diagnostic is based in the pathological evaluation. It may be cystic and must be consider in the differential diagnosis of cystic lesions of the kidney. The prognosis of Wilms' tumor in adults is worse than in children because of the high recurrence, the lower response rate to chemotherapy regimens and the advanced stage at the time of clinical presentation, like an asymptomatic abdominal mass in 75% of the cases. We report a new case of nephroblastoma in a 29 years old woman presenting like a renal colic, with a cystic configuration by abdominal ultrasound initially, that changed into a solid renal mass later. There is not a definitive treatment protocol currently but some authors suggest a combination chemotherapy with carboplatin and etoposide because it is very effective in recurrent or refractory adult Wilms' tumor. Our patient remains asymptomatic and without evidence of recurrence 18 months after the surgery.

Tumor de Wilms del adulto / Adult Wilms’ tumor

El tumor de Wilms es una neoplasia renal maligna de origen embrionario de aparición excepcional en la edad adulta. Clínica y radiológicamente resulta indistinguible del carcinoma de células renales, por lo que su diagnóstico es anatomopatológico. Su estructura puede ser quística y debe ser considerado en el diagnóstico diferencial de la lesión quística renal. El pronóstico en el adulto es peor que en la edad pediátrica debido a la mayor incidencia de recurrencia tumoral, a la falta de respuesta a los quimioterápicos clásicos utilizados tras la exéresis quirúrgica en niños y al estadío avanzado en el momento de la presentación clínica, como hallazgo casual de una masa abdominal asintomática en el 75% de los casos. Presentamos un nuevo caso de nefroblastoma del adulto en una mujer de 29 años, que debutó clínicamente como cólico nefrítico, con una configuración inicial ecográfica de masa renal quística con posterior evolución a lesión sólida.Se carece por el momento de guías de tratamiento quimioterápico post-operatorio establecidas, pero algunos autores sugieren el empleo de carboplatino y etopósido debido a su comprobada eficacia en tumor de Wilms recurrente o refractario. Tras la administración de dichos fármacos, nuestra paciente permanece asintomática y sin recidiva tumoral 18 meses después de la cirugía

Wilms’ tumor is a malignant embryonic renal neoplasm that is exceptional in adults. There arenot clinical data or radiographic investigations that can distinguish it from renal cell carcinoma. Sothe diagnostic is based in the pathological evaluation. It may be cystic and must be consider in thedifferential diagnosis of cystic lesions of the kidney.The prognosis of Wilms’ tumor in adults is worse than in children because of the high recurrence,the lower response rate to chemotherapy regimens and the advanced stage at the time of clinical presentation,like an asymptomatic abdominal mass in 75% of the cases.We report a new case of nephroblastoma in a 29 years old woman presenting like a renal colic,with a cystic configuration by abdominal ultrasound initially, that changed into a solid renal masslater. There is not a definitive treatment protocol currently but some authors suggest a combinationchemotherapy with carboplatin and etoposide because it is very effective in recurrent or refractoryadult Wilms’ tumor.Our patient remains asymptomatic and without evidence of recurrence 18 months after thesurgery

[Neck schwannomas]. / Schwannomas de cuello.

Given the rareness of cervical schwannomas, they are often mistaken for other kinds of lesions. We present 2 clinical cases, make comments on the clinical-pathological features involved and point out the essential elements that ensure the differential diagnosis of these tumours.

Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families.

Coagulation factor XI (FXI) deficiency is an inherited autosomal recessive mild bleeding disorder. In this study, we report the molecular genetic analysis of FXI deficiency in six unrelated families of Portuguese origin. The Jewish type II mutation was found in two families, of seemingly Portuguese origin. Haplotype analysis in these families demonstrated that this mutation is of Jewish origin. In the remaining families, five novel FXI mutations have been identified. Two of these mutations (FXI IVS K -10T-->A and FXI 1026G-->T, cd 324) affect the FXI pre-mRNA splicing. A further two (FXI 307 ins AAGCAAT, cd 85 and FXI 1072 del A, cd 340) introduce frameshifts leading to premature termination codons. The FXI splicing mutation, 1026G-->T cd 324, was found in compound heterozygosity with missense mutation FXI K518N. Analysis of the FXI mRNA from the latter genotype demonstrated new donor splice site usage. All reported mutations most likely result in functional null-alleles. In addition, three novel polymorphisms have been identified: at nt -138 in intron A, at codon D125 in exon 5 and at codon T249 in exon 8.

Prognostic factors in neuroendocrine lung tumors: a Spanish Multicenter Study. Spanish Multicenter Study of Neuroendocrine Tumors of the Lung of the Spanish Society of Pneumonology and Thoracic Surgery (EMETNE-SEPAR).

BACKGROUND: This study examines the experience of the Spanish Multicenter Study of Neuroendocrine Tumors of the Lung through the clinical data and behavior of patients treated for this pathologic process. METHODS: From 1980 to 1997, 361 cases of neuroendocrine carcinomas (NEC) were treated surgically. Patients were enrolled in a protocol using the pathologic and follow-up reports. According to Dreslers' criteria, the cases were segregated into grade 1 (typical carcinoid), grade 2 (atypical carcinoid), grade 3 large cell type, and grade 3 small cell type. Several variables were reviewed in all patients. Statistical analysis was performed to determine whether clinical characteristics and differentiation were associated with significant differences in the prognosis. RESULTS: A total of 261 cases of NEC were identified with grade 1, 43 with grade 2, and with grade 3: 22 of large and 35 of small cells. Five-year survival for different grades was as follows: grade 1, 96%; 2, 72%; 3 large cell type, 21%; and 3 small cell type, 14%. When a comparative analysis between typical and atypical carcinoids was performed a significant difference for mean age, tumor size, nodal metastases, and recurrence was observed. However, female sex, nodal metastases, and recurrence rate differed between atypical carcinoids and grade 3 NEC of large cells. A difference in recurrence rate was found between patients with both types of grade 3 NEC. CONCLUSIONS: The progressive deterioration of tumor organization highlights that neuroendocrine tumors constitute a continuous spectrum. A careful observation of pathologic findings is necessary to individualize their prognostic factors.

Identification of three novel mutations in hereditary protein S deficiency.

We report the application of single-stranded conformation polymorphism (SSCP) analysis to the screening of 15 functionally important Protein S (PS) gene (PS alpha) regions (4.243 Kb) in 6 unrelated families with PS deficiencies. Direct sequencing of the fragments with altered migration patterns led to the identification of the corresponding molecular alterations. A missense mutation, G to T transversion at codon Cys598, and two different alterations, leading either to allelic exclusion, or premature termination of the protein translation: a G to A transition at codon Trp465 and a 1 nt (T) insertion at codon 265, were identified. The 1 nt insertion was observed in three apparently unrelated families but with a common geographical origin and the mutated allele was undetectable in platelet mRNAs of affected individuals. Family analysis confirmed, in each case, a perfect cosegregation of the mutation with the PS deficiency. We conclude that these alterations represent the causative mutations.