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Id: lil-771635
Autor: Arango, Johana; Delgado, Julián; Saldarriaga, Wilmar.
Título: Esclerosis tuberosa, diagnóstico fetal y materno / Tuberous sclerosis, fetal and maternal diagnosis
Fonte: Rev. chil. obstet. ginecol;80(6):475-480, dic. 2015. ilus, tab.
Idioma: es.
Resumo: La esclerosis tuberosa (ET) es una enfermedad genética, autosómica dominante que tiene expresividad variable y que se caracteriza por la presencia de hamartomas en múltiples órganos de diferentes sistemas (piel, cerebro y corazón). Es causada por mutaciones en los genes TSC1 locus 9q34 y TSC2 locus 16p13. Tiene una prevalencia de 1 en cada 5000 a 10000 recién nacidos vivos. Se reporta el caso de una gestante y su feto con diagnóstico de ET. Se observaron masas en corazón y cerebro en el feto. El examen físico exhaustivo de la embarazada mostró criterios mayores de la enfermedad. Los hallazgos del diagnóstico prenatal fueron confirmados en el recién nacido. Se contribuye a la construcción de datos epidemiológicos latinoamericanos, y se aporta un plan de manejo a fetos, embarazadas y recién nacidos con ET.

Tuberous Sclerosis (TS) is a genetic disorder, exhibits an autosomal dominant inheritance pattern with variable expression, characterized by the presence of hamartomas in multiple organs of various systems (skin, brain and hearth). It is caused by mutations in genes TSC1 loci 9q34 and TSC2 loci 16p13. It has a prevalence of 1 in every 5000 to 10000 live births. We report a case of a pregnant and her fetus with diagnosis of TS. Masses in heart and brain in the fetus were observed, the thorough physical examination of pregnant also showed major criteria of the disease. Prenatal diagnosis findings were confirmed in the newborn. The objective is contribute to the construction of Latin American epidemiological data, a management plan for fetuses, pregnant women and infants with TS is provided.
Descritores: Diagnóstico Pré-Natal/métodos
Esclerose Tuberosa/diagnóstico por imagem
-Rabdomioma/diagnóstico por imagem
Neoplasias Encefálicas/diagnóstico por imagem
Ecocardiografia
Ultrassonografia Pré-Natal
Angiomiolipoma/diagnóstico por imagem
Coração Fetal/diagnóstico por imagem
Neoplasias Cardíacas/diagnóstico por imagem
Limites: Humanos
Masculino
Feminino
Gravidez
Recém-Nascido
Adulto
Tipo de Publ: Relatos de Casos
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-1013013
Autor: Çaliskan, Selahattin; Gümrükçü, Gülistan; Özsoy, Emrah; Topaktas, Ramazan; Öztürk, Metin Ishak.
Título: Renal angiomyolipoma
Fonte: Rev. Assoc. Med. Bras. (1992);65(7):977-981, July 2019. tab, graf.
Idioma: en.
Resumo: SUMMARY INTRODUCTION Angiomyolipoma is one of the most common benign solid renal tumors. We investigated the characteristics of renal angiomyolipomas and the clinical outcomes of patients in the last thirteen years. METHODS The medical records of the patients who underwent nephrectomy were reviewed retrospectively from July 2005 to May 2018. The laboratory data, radiology, and pathology reports were recorded. Patients diagnosed with angiomyolipoma were included in the study. RESULTS A total of 28 patients were included in the study, eight of them male. The mean age of the patients was 55.89+14.49 years. The patients were treated with open and laparoscopic techniques. Partial nephrectomy was performed in 12 patients(42.85%). After pathological examination, 23 patients were diagnosed as fat rich, four patients as fat poor, and one as epithelioid angiomyolipoma. There were no recurrences in the follow-up 91.21+48.31 months. CONCLUSION Angiomyolipoma is a rare renal tumor in daily urology practice. Clinicians must be aware of its complications and manage patients well.

RESUMO OBJETIVO O angiomiolipoma é um dos tumores renais benignos sólidos mais comuns. Investigamos as características dos angiomiolipomas renais e os desfechos clínicos dos pacientes nos últimos treze anos. MÉTODOS Os prontuários dos pacientes, para os quais a nefrectomia foi realizada, foram revisados retrospectivamente de 2008 a 2018. Os dados laboratoriais, relatórios de radiologia e patologia foram registrados. Os pacientes diagnosticados como angiomiolipoma foram incluídos no estudo. RESULTADOS Vinte e oito pacientes foram incluídos no estudo, oito deles do sexo masculino. A média de idade dos pacientes foi de 55,89 + 14,49 anos. Os pacientes foram tratados com técnicas abertas e laparoscópicas. Nefrectomia parcial foi realizada em 12 pacientes (42,85%). Depois de exame patológico, 23 pacientes foram diagnosticados como ricos em gordura, quatro pacientes como gordurosos e um paciente como angiomiolipoma epitelioide. Nenhum paciente teve recorrências no seguimento. CONCLUSÕES O angiomiolipoma é um tumor renal raro na prática urológica diária. Os médicos devem estar cientes das complicações e gerenciar bem os pacientes.
Descritores: Angiomiolipoma/patologia
Neoplasias Renais/patologia
-Imuno-Histoquímica
Imageamento por Ressonância Magnética/métodos
Estudos Retrospectivos
Angiomiolipoma/cirurgia
Carga Tumoral
Neoplasias Renais/cirurgia
Pessoa de Meia-Idade
Nefrectomia/métodos
Limites: Humanos
Masculino
Feminino
Adulto
Idoso
Responsável: BR1.1 - BIREME


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Id: biblio-1131850
Autor: Gupta, Deepika; Vishwajeet, Vikarn; Pandey, Himanshu; Singh, Mahendra; Sureka, Binit; Elhence, Poonam.
Título: Epithelioid angiomyolipoma with tumor thrombus in IVC and right atrium
Fonte: Autops. Case Rep;10(4):e2020190, 2020. graf.
Idioma: en.
Resumo: Epithelioid angiomyolipoma is an uncommon subtype of renal angiomyolipoma associated with potentially malignant behavior and is considered a distinct entity by the World Health Organization classification of renal tumors. We present a case of an epithelioid variant of angiomyolipoma with extension into the renal vein, inferior vena cava reaching up to the right atrium. Pre-operatively, a diagnosis of renal cell carcinoma was considered based on imaging findings. Intra-operatively due to extensive adhesions, surgical resection was not performed and only tissue sampling was performed for histopathology. Microscopic examination revealed short fascicles of spindle cells and perivascular epithelioid cells. A differential diagnosis of renal cell carcinoma with sarcomatoid differentiation was considered. The immunohistochemical profile showed tumor cells that express Melan-A and smooth muscle actin, while they were negative for pan-cytokeratin, PAX8, CK7, CD117 and CD34. Therefore a diagnosis of epithelioid angiomyolipoma was rendered. The presence of intravascular thrombi on radiological investigation and carcinoma-like growth pattern on light microscopy may compound an erroneous diagnosis of renal cell carcinoma. Hence, it is prudent for the urologist to consider differential diagnosis other than renal cell carcinoma when confronted with a renal neoplasm presenting with intravascular thrombi. In these cases, a core biopsy should be planned pre-operatively and diagnosis should be made with aid of appropriate immunohistochemical markers.
Descritores: Células Epitelioides/patologia
Angiomiolipoma/patologia
Neoplasias Renais/patologia
-Carcinoma de Células Renais
Diagnóstico Diferencial
Limites: Humanos
Feminino
Adulto
Tipo de Publ: Relatos de Casos
Responsável: BR26.7 - Serviço de Biblioteca e Documentação Científica


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Id: biblio-1020718
Autor: Troncoso, Pablo; Rojas, Pablo A; Saavedra, Álvaro.
Título: Masas renales pequeñas: predictores de malignidad en una serie de 10 años / Small renal masses: analysis of 152 cases
Fonte: Rev. méd. Chile;147(6):703-708, jun. 2019. tab.
Idioma: es.
Resumo: Background: Small renal masses (SRM) are defined as complex organ-confined solid or cystic lesions < 4 cm. Up to 20% of these can be benign. A conservative management with active surveillance can be done in some patients. However, it is difficult to identify patients with a higher risk of malignancy. Aim: To characterize the clinical, radiological and histopathological aspects of patients with SRM, analyzing predictive factors for tumor aggressiveness. Material and Methods: Retrospective analysis of a cohort of patients undergoing partial or total nephrectomy for renal tumors between 2006 and 2016. All tumors of 4 cm or less were included. Four histological groups were defined: benign, favorable, intermediate and unfavorable. Two categories of risk were also defined: low and high. Preoperative clinical and radiological variables of these patients were analyzed. Results: Data of 152 patients were analyzed. Six percent had a benign histology, and the majority was of intermediate risk (74%). According to histological type, clear cell carcinoma was the most common type (74%). Three percent were benign angiomyolipomas. No malignancy predictive variable was identified. Conclusions: In these patients, the percentage of benign SRM was low. No variable that could predict the presence of a benign or malignant lesion in the definitive biopsy was identified.
Descritores: Carcinoma de Células Renais/patologia
Angiomiolipoma/patologia
Neoplasias Renais/patologia
-Biópsia
Carcinoma de Células Renais/cirurgia
Carcinoma de Células Renais/epidemiologia
Modelos Logísticos
Chile/epidemiologia
Análise Multivariada
Estudos Retrospectivos
Fatores de Risco
Angiomiolipoma/cirurgia
Angiomiolipoma/epidemiologia
Medição de Risco
Neoplasias Renais/cirurgia
Neoplasias Renais/epidemiologia
Nefrectomia
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Idoso
Idoso de 80 Anos ou mais
Adulto Jovem
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-1131839
Autor: Dutta, Satya; Marbaniang, Evarisalin; Dey, Biswajit; Lyngdoh, Bifica Sofia; Raphael, Vandana.
Título: Angiomyolipoma of the broad ligament
Fonte: Autops. Case Rep;10(3):e2020173, 2020. graf.
Idioma: en.
Resumo: Angiomyolipoma is a benign mesenchymal neoplasm of the renal parenchyma, accounting for 1% of all renal parenchymal tumors. However, this entity may rarely occur in extrarenal sites. Extrarenal angiomyolipoma has been documented in various sites of the body, but angiomyolipoma of the broad ligament was reported in only two cases. We report the reputed third case of angiomyolipoma of the broad ligament in a 33-year-old female, who presented clinically with abdominal distension. With a working diagnosis of low-grade neoplasm, an en-bloc excision of the left broad ligament mass was performed. Based on histopathology and immunohistochemistry, a diagnosis of the classical variant of angiomyolipoma of the left broad ligament was made. The post-operative period was uneventful with no recurrence after 6 months of follow-up.
Descritores: Ligamento Largo/anormalidades
Angiomiolipoma/patologia
-Imuno-Histoquímica
Tecido Adiposo
Limites: Humanos
Feminino
Adulto
Tipo de Publ: Relatos de Casos
Responsável: BR26.7 - Serviço de Biblioteca e Documentação Científica


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Id: lil-547644
Autor: Balancin, Marcelo Luiz; Ramalho, Leandra Naíra Zambelli.
Título: Wandering spleen, splenic mesothelial cyst and angiomyolipoma: a new syndrome or coinciding distinct entities reactive to estrogen?
Fonte: Appl. cancer res;30(1):232-235, Jan.-Mar. 2010. ilus.
Idioma: en.
Resumo: Wandering spleen is the consequence of excessive splenic mobility due to ineffective peritoneal attachment, rarely associated to splenic cysts. In cases previously reported, splenic cysts are mostly pseudocystic formations from trauma, infarction or parasitic disease. True cysts, epithelial or mesothelial lined, which are considered dysontogenetic formations, are usually not associated to wandering spleen. Angiomyolipoma is a benign triphasic tumor, usually renal. Few cases of wandering spleen associated with mesothelial cyst or angiomyolipoma are described. We present the first case to our knowledge of these three entities together; isolated evidence, once compiled, may lead to the influence of estrogen as a common factor in pathogenesis. Even though a punctual intervention in a benign panorama, we question whether these lesions act as distinct, partially associated or as the manifestation of an underlying silent syndromic disease that could harbor future outcomes to similar patients.
Descritores: Angiomiolipoma
Cisto Dermoide
Estrogênios
Neoplasias Mesoteliais
Gravidez
Baço Flutuante
Responsável: BR30.1 - Biblioteca


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Id: biblio-843221
Autor: Ortega Hrescak, M C; Ezquer, A J; Pérez Renfiges, A; López Galíndez, A J; Cenice, F F; López, R E.
Título: Angiomiolipoma renal atípico versus carcinoma de células renales: dilema diagnóstico. Hallazgos útiles por tomografía computada para la discriminación de estos tumores / Atypical renal angiomyolipoma versus carcinoma renal cell: diagnosis dilemma. Findings by computed tomography for the discrimination of these tumors
Fonte: Rev. argent. radiol;80(2):99-111, jun. 2016. ilus, graf, tab.
Idioma: es.
Resumo: Objetivo: Diferenciar el angiomiolipoma atípico del carcinoma de células renales del mismo tamaño mediante hallazgos tomográficos. Materiales y métodos: Se realizó un estudio retrospectivo con 68 pacientes (17 con angio-miolipomas atípicos y 51 con carcinoma de células renales) nefrectomizados por diagnóstico presuntivo preoperatorio, mediante tomografía computada trifásica (fases sin contraste, corticomedular y excretora temprana), de carcinoma de células renales menor de 45mm. Dos radiólogos que desconocían el diagnóstico definitivo evaluaron retrospectivamente las características generales del tumor, su atenuación en fase sin contraste y las características de su realce. Se realizó un análisis estadístico con software R, aplicándose el modelo logit para diferenciar el angiomiolipoma atípico del carcinoma de células renales a partir de los hallazgos tomográficos de masa renal, incluidos en el modelo final el contorno, la atenuación en fase sin contraste y el patrón de realce con el tiempo. Resultados: Los hallazgos de angiomiolipoma atípico que resultaron significativos fueron atenuación tumoral en fase sin contraste hiperdensa y patrón de realce con tiempo prolongado con chance de ocurrencia de 10,49 (p=0,0381) y 36,71 (p=0,0009), respectivamente. En los pacientes, según el valor de cada hallazgo incluido en el modelo, se calculó probabilidad, sensibilidad (0,2941) y especificidad (0,9804). La curva característica operativa del receptor (ROC) determinó un punto de corte óptimo (0,9694) para discriminar el angiomiolipoma atípico, por lo que se confirmó su presencia. Conclusión: La tomografía computada helicoidal trifásica es útil para diferenciar el angiomiolipoma atípico del carcinoma de células renales, siendo la atenuación hiperdensa sin contraste del tumor y su patrón de realce prolongado los hallazgos tomográficos más valiosos.

Objective: To compare various computed tomographic features of atypical angiomyolipoma with those of size-matched renal cell carcinoma. Materials and methods: Sixty-eight patients (17 with atypical angiomyolipomas and 51 with carcinoma renal cells) who had undergone nephrectomy by presumptive diagnosis of carcinoma renal cell<45mm on diameter by preoperative triphasic computed tomography (CT) (with unenhanced, corticomedullary, and early excretory phase scanning) were evaluated in a retrospective study. Two reviewers who were unaware of the diagnosis retrospectively recorded tumor attenuation on unenhanced scans, enhancement characteristics and general characteristics of the tumor. Statistical analysis was performed with R software, applying logit model to differentiate atypical angiomyolipoma from renal cell carcinoma from CT findings of renal mass, included in the final model the tumor margin, its attenuation on unenhanced scans and the enhancement pattern over time. Results: For atypical angiomyolipomas the most valuable CT findings were hyperdense attenuation tumour in unenhaced phase scan and prolonged enhancement pattern, with chance of occurrence of 10.49 (p=0.0381) and 36.71 (p=0.0009), respectively. In the patients, as each finding value in the model, probability, sensitivity (0.2941) and specificity (0.9804) was calculated ROC curve was constructed that determined optimal cutoff (0.9694) to discriminate atypical angiomyolipoma, confirming their presence. Conclusion: Triphasic helical CT may be useful in differentiating atypical angiomyolipoma from renal cell carcinoma, with hyperdense tumor attenuation on unenhanced scans and prolonged enhancement pattern being the most valuable CT findings.
Descritores: Carcinoma de Células Renais/diagnóstico por imagem
Angiomiolipoma/diagnóstico por imagem
Neoplasias Renais/diagnóstico por imagem
-Estudos Retrospectivos
Curva ROC
Tomografia Computadorizada Espiral
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Idoso
Idoso de 80 Anos ou mais
Responsável: AR144.1 - CIBCHACO - Centro de Información Biomedica del Chaco


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Id: biblio-1009210
Autor: Piñero, Fátima; Dávila A, Erik.
Título: Hematuria macroscópica en paciente con angiomiolipoma renal y síndrome de cascanueces asintomático / Macroscopic hematuria in a patient with renal angiolipoma and asymptomatic nutcracker syndrome
Fonte: Med. interna (Caracas);33(2):110-116, 2017. ilus.
Idioma: es.
Resumo: El angiomiolipoma renal es un tumor benigno poco frecuente y constituye menos del 2% de todos los tumores renales, teniendo una incidencia de 0.3-3% aproximadamente a nivel mundial. En Venezuela solo existe un reporte de angiomiolipoma, publicado en el 2015. Aunque estos tumores se asocian en un 20% con el complejo de esclerosis tuberosa y la linfangioleiomiomatosis esporádica, pueden presentarse aisladamente con una relación mujer-hombre de 2:1 y más en la 4ª y 5a década de la vida. Presentamos el caso de una mujer de 32 años de edad, quien consultó en 2006 por hematuria macroscópica, dolor en hipogastrio, sin relación con la menstruación; concomitante polaquiuria, astenia y palpitaciones; tuvo episodios recurrentes 3-4 veces/año con transfusión de hemoderivados por anemia severa. En el año 2015 la tomografía mostró "síndrome de cascanueces". La uretrocistoscopia mostró hemorragia activa por uréter derecho, y se realizó nefrectomía parcial derecha cuya biopsia reportó angiomiolipoma renal, con buena evolución y egreso a las 72 horas(AU)

Renal angiomyolipoma is a benign, rare tumor present in less than 2% of all renal tumors; it´s world incidence is 0.3-3%. In Venezuela only one case was reported in 2015. Although these tumors are associated with 20% of the Tuberous Sclerosis, they can present with a gender proportion of 2:1, more often in the 4th and 5th decade. We present here the case of a 32 year- old woman who in 2006 had consulted for hematuria, pelvic pain, weakness and palpitations not related with her menses. These episodes recurred several times per year and she received red blood cell transfusions. In the year 2015 a computerized tomography showed Nutcracker Syndrome and the urethrocystoscopy showed an active bleeding originating in the right urether. A right partial nephrectomy was done and the biopsy was reported as Renal angiomyolipoma. She was discharged 72 hours after her operation(AU)
Descritores: Angiomiolipoma/patologia
Neoplasias Renais/patologia
Nefrectomia
-Doenças Urológicas
Medicina Interna
Limites: Humanos
Feminino
Adulto
Tipo de Publ: Relatos de Casos
Responsável: VE1.1 - Biblioteca Humberto Garcia Arocha


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Id: biblio-977274
Autor: Herazo Bustos, Cherina; Wilches Vanegas, Catalina.
Título: Complejo de esclerosis tuberosa de diagnóstico tardío / Tuberous Sclerosis Complex of Late Onset
Fonte: Rev. argent. radiol;82(3):131-133, set. 2018. ilus.
Idioma: es.
Descritores: Esclerose Tuberosa/genética
Esclerose Tuberosa/diagnóstico por imagem
-Esclerose Tuberosa/complicações
Espectroscopia de Ressonância Magnética
Tomografia Computadorizada por Raios X
Ultrassonografia
Linfangioleiomiomatose/diagnóstico por imagem
Angiomiolipoma/diagnóstico por imagem
Malformações do Desenvolvimento Cortical/diagnóstico por imagem
Substância Branca/lesões
Limites: Humanos
Masculino
Adulto
Tipo de Publ: Relatos de Casos
Responsável: AR144.1 - CIBCHACO - Centro de Información Biomedica del Chaco


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Id: biblio-899641
Autor: Leal-Medrano, Jorge Armando; Marín-Hernández, Ludwing Ricardo; Castellanos Bueno, Rafael; García Ayala, Ernesto.
Título: PEComa (neoplasia de células epiteliodes perivasculares) asociado con cáncer papilar de tiroides bilateral sincrónico / PEComa (Perivascular Epithelioid Cell Neoplasms) associated with synchronous bilateral papillary thyroid cancer
Fonte: Rev. chil. cir;69(6):483-488, dic. 2017. ilus.
Idioma: es.
Resumo: Resumen Introducción: Los tumores de células epitelioides perivasculares (PEComas) son neoplasias poco frecuentes de origen mesenquimal. Estos incluyen el angiomiolipoma epitelioide (EAML), una neoplasia con potencial maligno y cuya presentación simultánea con cáncer de tiroides es bastante rara. Presentación del caso: Hombre de 40 años con masa de crecimiento rápido en relación con polo inferior derecho de tiroides e infiltración de tráquea. La TAC abdominopélvica contrastada muestra múltiples masas renales con masa dominante en polo superior izquierdo. El estudio histopatológico de tiroides evidenció una lesión en lóbulo derecho correspondiente a cáncer papilar de tiroides (PTC) de variante de células altas y una segunda neoplasia en el lóbulo contralateral correspondiente a PTC moderadamente diferenciado de variante clásica. En riñón se encontró una lesión correspondiente a EAML, con células de aspecto epitelioide equivalentes al 40%. Discusión: El presente artículo corresponde al primero en la literatura en describir la presentación simultánea de EAML con PTC bilateral sincrónico (SBiPTC). Se describe una vía molecular común, que corresponde a la vía TSC/mTOR, la prevalencia de SBiPTC y los marcadores inmunohistoquímicos para diagnóstico de EAML.

Abstract Introduction: Perivascular Epithelioid Cell Neoplasms (PEComas) are uncommon tumors of mesenchymal origin. These ones include the epithelioid angiomyolipoma (EAML), a tumor with malignant potential and whose simultaneous presentation with thyroid cancer is quite rare. Presentation of case: Forty years old man with fast-growing mass in relation to lower right thyroid pole and tracheal infiltration. Abdominopelvic contrast-enhanced CT shows multiple renal masses with dominant mass in the left upper pole. Thyroid histopathology showed a lesion in right lobe corresponding to tall cell variant of papillary thyroid cancer (PTC) and a second neoplasm in the contralateral lobe corresponding to classical variant of moderately differentiated PTC. In the kidney was found a tumor corresponding to EAML with epithelioid aspect cells equivalent to 40%. Discussion: This article corresponds to the first in the literature to describe the simultaneous presentation of EAML with synchronous bilateral PTC (SBiPTC) and its possible association. A common molecular pathway corresponding to the TSC/mTOR pathway is described, as well as SBiPTC prevalence and immunohistochemical markers for EAML diagnosis.
Descritores: Neoplasias da Glândula Tireoide/patologia
Angiomiolipoma/patologia
Neoplasias de Células Epitelioides Perivasculares/patologia
Neoplasias Primárias Múltiplas/patologia
-Tireoidectomia
Neoplasias da Glândula Tireoide/cirurgia
Imuno-Histoquímica
Biomarcadores Tumorais
Angiomiolipoma/cirurgia
Neoplasias de Células Epitelioides Perivasculares/cirurgia
Neoplasias Primárias Múltiplas/cirurgia
Limites: Humanos
Masculino
Adulto
Tipo de Publ: Relatos de Casos
Responsável: CL61.1 - Biblioteca Central Campus Sur



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