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3.
Fam Cancer ; 9(2): 151-4, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19998059

RESUMO

Muir-Torre syndrome is a rare, inherited disease predisposing of gastrointestinal and cutaneous tumours, such as keratoacanthomas and sebaceous gland adenomas. Muir-Torre syndrome is usually inherited in an autosomal dominant fashion and associated with mutations in the mismatch repair genes, predominantly in MLH1 and MSH2 genes. This report describes a man who has multiple adenomatous colon polyps, a gastric cancer, multiple colorectal cancers and sebaceous adenomas caused by biallelic MYH germline mutations. This finding demonstrates that MYH gene analysis should be considered in Muir-Torre families where no mismatch repair gene mutations have been found. Furthermore, this report contributes to characterize the clinical phenotype caused by biallelic mutations in MYH gene, which may share with other hereditary colon cancer syndromes.


Assuntos
Reparo de Erro de Pareamento de DNA/genética , Mutação em Linhagem Germinativa/genética , Ceratoacantoma/etiologia , Síndrome de Muir-Torre/complicações , Síndrome de Muir-Torre/genética , Idoso , Alelos , Neoplasias Colorretais/genética , Reparo do DNA/genética , Humanos , Masculino , Mutação
4.
J Clin Virol ; 37(2): 79-82, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16884948

RESUMO

Severe pulmonary hypertension (PH) mimicking idiopathic PH is an increasingly recognized complication of human immunodeficiency virus (HIV) infection. PH shares several histopathologic features with Kaposi's sarcoma (KS), the most common malignancy in AIDS patients, and molecular evidence of the vasculotropic Kaposi's sarcoma-associated herpesvirus or human herpesvirus 8 (HHV-8) has been found in the lung tissue of patients with the disease. Although the prevalence of HHV-8 infection is increased among HIV-infected patients, no clinical association between KS and PH has ever been reported. Herein, we described a 30-year-old HIV-infected female co-infected with HHV-8 who developed severe PH coincident with occult KS. The clinical presentation of KS was unusual and remained masqueraded for years as an indolent cervical lymphadenopathy, without the typical cutaneous lesions. This is the first ever-reported case of PH associated with KS. Although the co-occurrence of both diseases in this patient could have been just a coincidence, the observation may also indicate that a relationship between HHV-8 infection and HIV-associated PH exists. Coinfection with HHV-8 and occult lymphadenopatic KS should be considered in HIV-infected patients developing PH.


Assuntos
Infecções por HIV/complicações , Herpesvirus Humano 8/patogenicidade , Hipertensão Pulmonar/etiologia , Sarcoma de Kaposi/complicações , Adulto , Feminino , Humanos
5.
Cir. Esp. (Ed. impr.) ; 78(6): 357-361, dic. 2005. ilus, tab
Artigo em Es | IBECS | ID: ibc-041698

RESUMO

Objetivo. Evaluar el número de casos de carcinoma gástrico que pueden ser estadificados con los criterios de la 5.a edición del sistema TNM y analizar qué factores pueden estar relacionados con la obtención de un número suficiente de ganglios. Pacientes y método. En 164 pacientes a los que se resecó un carcinoma gástrico, se estudiaron distintos factores que podían influir en el número de ganglios aislados, como el tamaño tumoral, el tipo de resección gástrica, el grado de diferenciación tumoral, el tipo histológico, la variabilidad entre patólogos que analizaron las piezas y la experiencia del cirujano. Resultados. La media de ganglios linfáticos analizados por los patólogos fue de 11,4 (intervalo de confianza del 95%, 10,12-12,66). Atendiendo a los criterios de la 5.a edición de la clasificación TNM, sólo se pudo clasificar correctamente al 31% de los pacientes. Encontramos una correlación positiva entre el tamaño tumoral y el número de ganglios aislados (p = 0,0018), así como un mayor número de ganglios analizados en las gastrectomías totales respecto de las subtotales (p = 0,034). No se observó una variación significativa en los ganglios analizados en relación con el patólogo que analizó la pieza ni con la experiencia del cirujano que efectuó la resección. Conclusiones. La 5.a edición del sistema TNM es fácilmente reproducible, aunque el número de ganglios necesarios para corroborar la afección ganglionar metastásica es difícil de conseguir en nuestro medio. Nuestros resultados sugieren que es necesario un esfuerzo conjunto por parte de cirujanos y patólogos para aumentar el número de pacientes estadificables con esta edición (AU)


Aim. To estimate the proportion of patients with gastric carcinoma that can be classified using the criteria of the fifth edition of the TNM system and to analyze which factors could be related to the finding of an adequate number of nodes. Patients and method. The influence of distinct factors that could influence the number of lymph nodes isolated was evaluated in 164 patients who underwent resection of gastric carcinoma. These factors included tumor size, surgical resection, grade, histological type, variability among the pathologists who analyzed the surgical specimens, and the surgeon's experience. Results. The mean number of lymph nodes examined by the pathologists was 11.4 (10.12-12.66). Applying the criteria of the fifth edition of the TNM classification, only 31% of the patients could be correctly classified. A positive correlation was found between tumor size and the number of resected nodes (p = 0.0018). In addition, a greater number of lymph nodes were found in total gastrectomies than in subtotal gastrectomies (p = 0.034). No significant association was found with the pathologist who analyzed the surgical specimen or with the experience of the surgeon who performed the resection. Conclusions. The fifth edition of the TNM system is easily reproducible, although the number of lymph nodes required to evaluate metastatic node involvement is difficult to obtain in our environment. Our results suggest that a combined effort between surgeons and pathologists is needed to increase the number of patients that can be reliably staged with this TNM edition (AU)


Assuntos
Masculino , Feminino , Pessoa de Meia-Idade , Humanos , Carcinoma/classificação , Carcinoma/cirurgia , Gastrectomia/métodos , Prognóstico , Excisão de Linfonodo/métodos , Análise de Variância , Neoplasias Gástricas/classificação , Neoplasias Gástricas/cirurgia , Estadiamento de Neoplasias/métodos , Estudos Prospectivos , Gânglios/patologia , Gânglios/cirurgia , Indicadores de Morbimortalidade , Estadiamento de Neoplasias/estatística & dados numéricos , Estadiamento de Neoplasias/tendências , Estadiamento de Neoplasias
6.
Cir Esp ; 78(6): 357-61, 2005 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-16420861

RESUMO

AIM: To estimate the proportion of patients with gastric carcinoma that can be classified using the criteria of the fifth edition of the TNM system and to analyze which factors could be related to the finding of an adequate number of nodes. PATIENTS AND METHOD: The influence of distinct factors that could influence the number of lymph nodes isolated was evaluated in 164 patients who underwent resection of gastric carcinoma. These factors included tumor size, surgical resection, grade, histological type, variability among the pathologists who analyzed the surgical specimens, and the surgeon's experience. RESULTS: The mean number of lymph nodes examined by the pathologists was 11.4 (10.12-12.66). Applying the criteria of the fifth edition of the TNM classification, only 31% of the patients could be correctly classified. A positive correlation was found between tumor size and the number of resected nodes (p = 0.0018). In addition, a greater number of lymph nodes were found in total gastrectomies than in subtotal gastrectomies (p = 0.034). No significant association was found with the pathologist who analyzed the surgical specimen or with the experience of the surgeon who performed the resection. CONCLUSIONS: The fifth edition of the TNM system is easily reproducible, although the number of lymph nodes required to evaluate metastatic node involvement is difficult to obtain in our environment. Our results suggest that a combined effort between surgeons and pathologists is needed to increase the number of patients that can be reliably staged with this TNM edition.


Assuntos
Neoplasias Gástricas/classificação , Neoplasias Gástricas/patologia , Idoso , Feminino , Humanos , Metástase Linfática , Masculino
7.
Radiología (Madr., Ed. impr.) ; 43(4): 194-196, mayo 2001. ilus
Artigo em Es | IBECS | ID: ibc-739

RESUMO

Presentamos un nuevo caso de seudoquiste no pancreático de origen mesentérico en una mujer de 39 años de edad sin antecedentes personales de interés que acudió a urgencias al sufrir un cuadro abdominal agudo. En la ecografía abdominal se objetivó la existencia de una lesión quística a nivel de mesogástrio, de pared gruesa, con contenido ecogénico y nivel líquido-líquido interno; en la TC realizada posteriormente se demostró que la pared se realzaba con el contraste y la lesión procedía del mesenterio; también existía gran cantidad de líquido peritoneal libre. La paciente se intervino urgentemente, extrayéndosele un quiste mesentérico perforado. El estudio anatomopatológico de la pieza dio como resultado el diagnóstico de seudoquiste mesentérico (AU)


Assuntos
Adulto , Feminino , Humanos , Abdome Agudo/complicações , Abdome Agudo/diagnóstico , Abdome Agudo , Tomografia Computadorizada por Raios X/métodos , Pelve/patologia , Pelve , Pelve , Omento , Omento/patologia , Omento , Diagnóstico Diferencial , Linfangioma/complicações , Linfangioma/diagnóstico , Linfangioma/etiologia , Cisto Mesentérico/complicações , Cisto Mesentérico/diagnóstico , Cisto Mesentérico/cirurgia , Tecnologia Radiológica/classificação , Tecnologia Radiológica/métodos , Tecnologia Radiológica/tendências , Abdome Agudo/terapia , Abdome Agudo/fisiopatologia , Cisto Mesentérico/classificação , Radiografia/classificação , Radiografia/métodos , Radiografia/tendências
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