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Id: biblio-954157
Autor: Marzuca-Nassr, Gabriel Nasri; Vitzel, Kaio Fernando; Mancilla-Solorza, Eladio; Márquez, José Luis.
Título: Sarcomere structure: the importance of desmin protein in muscle atrophy / Estructura de sarcómera: la importancia de proteína desmina en atrofia muscular
Fonte: Int. j. morphol;36(2):576-583, jun. 2018. graf.
Idioma: en.
Projeto: Universidad de La Frontera.
Resumo: Knowing the ultrastructure of skeletal muscle is critical to understand how it works under normal situation and the disorders caused by extreme or pathological conditions. Sarcomere is the basic structural unit of striated muscle tissue. An important element of sarcomere architecture are the intermediate filaments, including the desmin protein. Desmin protein contributes to maintenance of cell integrity, efficient transmission of force and mechanochemical signaling within the myocyte. Because of this, desmin protein has constantly been a focus of research that investigates its alterations associated to damage and muscle atrophy under different conditions. The purpose of the following literature review is to describe the basic concepts of muscle ultrastructure, emphasizing the desmin protein role under conditions of muscle disuse atrophy and aging.

Conocer la ultraestructura del músculo esquelético es crítico para entender cómo trabaja bajo situaciones normales y en desórdenes causados por condiciones extremas o patológicas. La sarcómera es la unidad de estructura básica del tejido muscular estriado. Elementos importantes en la arquitectura de la sarcómera son los filamentos intermedios, incluyendo la proteína desmina. La proteína desmina contribuye en mantener la integridad celular, la transmisión eficiente de fuerza y la señalización mecanoquímica dentro del miocito. Debido a lo anterior, la proteína desmina ha sido constante foco de investigación en trabajos que estudian sus alteraciones asociadas a daño y atrofia muscular bajo diferentes condiciones. El propósito de la siguiente revisión de la literatura es describir los conceptos básicos de la ultraestructura muscular, enfatizando en el rol de la proteína desmina bajo condiciones de atrofia muscular por desuso y envejecimiento.
Descritores: Sarcômeros/ultraestrutura
Envelhecimento
Músculo Esquelético/ultraestrutura
Desmina/ultraestrutura
-Filamentos Intermediários/ultraestrutura
Limites: Humanos
Animais
Tipo de Publ: Revisão
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-889046
Autor: Ribeiro, LP; Freitas-Lima, LC; Naumann, GB; Meyrelles, SS; Lunz, W; Pires, SF; Andrade, HM; Carnielli, JBT; Figueiredo, SG.
Título: Cardiac protein expression patterns are associated with distinct inborn exercise capacity in non-selectively bred rats
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;51(3):e7033, 2018. tab, graf.
Idioma: en.
Projeto: CNPq; . FAPES; . CNPq/FAPES.
Resumo: In the present study, we successfully demonstrated for the first time the existence of cardiac proteomic differences between non-selectively bred rats with distinct intrinsic exercise capacities. A proteomic approach based on two-dimensional gel electrophoresis coupled to mass spectrometry was used to study the left ventricle (LV) tissue proteome of rats with distinct intrinsic exercise capacity. Low running performance (LRP) and high running performance (HRP) rats were categorized by a treadmill exercise test, according to distance run to exhaustion. The running capacity of HRPs was 3.5-fold greater than LRPs. Protein profiling revealed 29 differences between HRP and LRP rats (15 proteins were identified). We detected alterations in components involved in metabolism, antioxidant and stress response, microfibrillar and cytoskeletal proteins. Contractile proteins were upregulated in the LVs of HRP rats (α-myosin heavy chain-6, myosin light chain-1 and creatine kinase), whereas the LVs of LRP rats exhibited upregulation in proteins associated with stress response (aldehyde dehydrogenase 2, α-crystallin B chain and HSPβ-2). In addition, the cytoskeletal proteins desmin and α-actin were upregulated in LRPs. Taken together, our results suggest that the increased contractile protein levels in HRP rats partly accounted for their improved exercise capacity, and that proteins considered risk factors to the development of cardiovascular disease were expressed in higher amounts in LRP animals.
Descritores: Condicionamento Físico Animal/fisiologia
Corrida/fisiologia
Proteínas/metabolismo
Testes de Função Cardíaca/métodos
Miocárdio/metabolismo
-Tamanho do Órgão
Ratos Endogâmicos
Espectrometria de Massas
Eletroforese em Gel Bidimensional
Proteínas/isolamento & purificação
Proteínas Contráteis/metabolismo
Proteínas do Citoesqueleto/metabolismo
Proteômica
Desmina/metabolismo
Ventrículos do Coração/metabolismo
Proteínas de Choque Térmico/metabolismo
Limites: Animais
Masculino
Ratos
Responsável: BR1.1 - BIREME


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Id: biblio-840065
Autor: Sun, Ling-Jia; Chen, Xin; Dai, Yi-Ning; Xu, Cheng-Fu; Ji, Feng; Chen, Li-Hua; Chen, Hong-Tan; Chen, Chun-Xiao.
Título: Endoscopic Ultrasonography in the Diagnosis and Treatment Strategy Choice of Esophageal Leiomyoma
Fonte: Clinics;72(4):197-201, Apr. 2017. tab.
Idioma: en.
Resumo: OBJECTIVES: Esophageal leiomyoma is the most common benign tumor of the esophagus, and it originates from mesenchymal tissue. This study analyzed the clinicopathological characteristics of esophageal leiomyoma and aimed to evaluate the role of endoscopic ultrasonography in the diagnosis and treatment selection for these lesions. METHODS: Two hundred and twenty-five patients who had suspected esophageal leiomyomas in endoscopic ultrasonography were enrolled at the Endoscopy Center of The First Affiliated Hospital, Zhejiang University from January 1st, 2009 to May 31th, 2015. The main outcomes included the demographic and morphological characteristics, symptoms, comparisons of diagnosis and treatment methods, adverse events, and prognosis. RESULTS: One hundred and sixty-seven patients were diagnosed as having an esophageal leiomyoma by pathological examination. The mean patient age was 50.57±9.983 years. In total, 62.9% of the lesions originated from the muscularis mucosa, and the others originated from the muscularis propria. The median distance to the incisors was 30±12 cm. The median diameter was 0.72±0.99 cm. As determined by endoscopic ultrasonography, most existing leiomyomas were homogeneous, endophytic, and spherical. The leiomyomas from the muscularis mucosa were smaller than those from the muscularis propria and much closer to the incisors (p<0.05). SMA (smooth muscle antibody) (97.2%) and desmin (94.5%) were positive in the majority of patients. In terms of treatments, patients preferred endoscopic therapies, which led to less adverse events (e.g., intraoperative bleeding, local infection, pleural effusion) than surgical operations (p<0.05). The superficial leiomyomas presented less adverse events and better recovery (p<0.05) than deep leiomyomas. CONCLUSION: Endoscopic ultrasonography has demonstrated high accuracy in the diagnosis of esophageal leiomyomas and provides great support in selecting treatments; however, EUS cannot completely avoid misdiagnosis, so combining it with other examinations may be a good strategy to solve this problem.
Descritores: Endossonografia/métodos
Neoplasias Esofágicas/diagnóstico por imagem
Leiomioma/diagnóstico por imagem
Mesenquimoma/diagnóstico por imagem
-Confiabilidade dos Dados
Desmina/metabolismo
Ressecção Endoscópica de Mucosa/métodos
Endossonografia/normas
Neoplasias Esofágicas/patologia
Neoplasias Esofágicas/terapia
Leiomioma/patologia
Leiomioma/terapia
Mesenquimoma/patologia
Mesenquimoma/terapia
Músculo Liso/metabolismo
Estudos Retrospectivos
Tomografia/métodos
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Idoso
Responsável: BR1.1 - BIREME


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Id: lil-766982
Autor: Gianelo, M.C.S.; Polizzelo, J.C.; Chesca, D.; Mattiello-Sverzut, A.C..
Título: Three days of intermittent stretching after muscle disuse alters the proteins involved in force transmission in muscle fibers in weanling rats
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;49(2):e4118, 2016. tab, graf.
Idioma: en.
Resumo: The aim of this study was to determine the effects of intermittent passive manual stretching on various proteins involved in force transmission in skeletal muscle. Female Wistar weanling rats were randomly assigned to 5 groups: 2 control groups containing 21- and 30-day-old rats that received neither immobilization nor stretching, and 3 test groups that received 1) passive stretching over 3 days, 2) immobilization for 7 days and then passive stretching over 3 days, or 3) immobilization for 7 days. Maximal plantar flexion in the right hind limb was imposed, and the stretching protocol of 10 repetitions of 30 s stretches was applied. The soleus muscles were harvested and processed for HE and picrosirius staining; immunohistochemical analysis of collagen types I, III, IV, desmin, and vimentin; and immunofluorescence labeling of dystrophin and CD68. The numbers of desmin- and vimentin-positive cells were significantly decreased compared with those in the control following immobilization, regardless of whether stretching was applied (P<0.05). In addition, the semi-quantitative analysis showed that collagen type I was increased and type IV was decreased in the immobilized animals, regardless of whether the stretching protocol was applied. In conclusion, the largest changes in response to stretching were observed in muscles that had been previously immobilized, and the stretching protocol applied here did not mitigate the immobilization-induced muscle changes. Muscle disuse adversely affected several proteins involved in the transmission of forces between the intracellular and extracellular compartments. Thus, the 3-day rehabilitation period tested here did not provide sufficient time for the muscles to recover from the disuse maladaptations in animals undergoing postnatal development.
Descritores: Imobilização/fisiologia
Exercícios de Alongamento Muscular
Fibras Musculares Esqueléticas/metabolismo
Proteínas Musculares/metabolismo
Força Muscular/fisiologia
-Antígenos CD/análise
Antígenos de Diferenciação Mielomonocítica/análise
Colágeno Tipo I/análise
Colágeno Tipo I/metabolismo
Colágeno Tipo III/análise
Colágeno Tipo III/metabolismo
Colágeno Tipo IV/análise
Colágeno Tipo IV/metabolismo
Desmina/análise
Desmina/metabolismo
Distrofina/análise
Imunofluorescência
Corpos de Inclusão/metabolismo
Distribuição Aleatória
Ratos Wistar
Fatores de Tempo
Vimentina/análise
Vimentina/metabolismo
Limites: Animais
Feminino
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: lil-763064
Autor: Wang, Chenghe; Chen, Zhong; Wu, Jia; Zhang, Yan; Hu, Jia; Ge, Qiangqiang; Wang, Tao; Yang, Weimin; Xu, Hua; Liu, Jihong; Ye, Zhangqun.
Título: Small activating RNA induces myogenic differentiation of rat adipose-derived stem cells by upregulating MyoD
Fonte: Int. braz. j. urol;41(4):764-772, July-Aug. 2015. graf.
Idioma: en.
Projeto: National Natural Science Foundation of PR China.
Resumo: ABSTRACTPurpose:RNA activation (RNAa) is a mechanism of gene activation triggered by promoter-targeted small double stranded RNAs (dsRNAs), also known as small activating RNAs (saRNAs). Myogenic regulatory factor MyoD is regarded as the master activator of myogenic differentiation cascade by binding to enhancer of muscle specific genes. Stress urinary incontinence (SUI) is a condition primarily resulted from urethral sphincter deficiency. It is thus expected that by promoting differentiation of adipose-derived stem cells (ADSCs) into myoblasts by activating MyoD gene through RNAa may offer benefits to SUI.Materials and Methods:Rats ADSCs were isolated, proliferated in vitro, and identified by flow cytometry. Purified ADSCs were then transfected with a MyoD saRNA or control transfected. Real-time polymerase chain reaction (RT-PCR) and western blotting were used to detect MyoD mRNA and protein expression, respectively. Immunocytochemical staining was applied to determine the expression of desmin protein in transfected cells. Cell viability was measured by using CellTiter 96® AQueous One Solution Cell Proliferation Assay kit.Results:Transfection of a MyoD saRNA (dsMyoD) into ADSCs significantly induced the expression of MyoD at both the mRNA and protein levels, and inhibited cell proliferation. Desmin protein expression was detected in dsMyoD treated ADSCs 2 weeks later.Conclusion:Our findings show that RNAa mediated overexpression of MyoD can promote transdifferentiation of ADSCs into myoblasts and may help treat stress urinary incontinence (SUI)–a condition primarily resulted from urethral sphincter deficiency.
Descritores: Tecido Adiposo/citologia
Diferenciação Celular/genética
Desmina/metabolismo
Proteína MyoD/genética
Mioblastos/citologia
RNA de Cadeia Dupla
Células-Tronco/citologia
-Western Blotting
Sobrevivência Celular
Citometria de Fluxo
Expressão Gênica
Imuno-Histoquímica
Proteína MyoD/metabolismo
Mioblastos/metabolismo
Cultura Primária de Células
Regiões Promotoras Genéticas/fisiologia
Reação em Cadeia da Polimerase em Tempo Real
Células-Tronco/metabolismo
Transfecção
Ativação Transcricional/fisiologia
Uretra/patologia
Incontinência Urinária por Estresse/genética
Incontinência Urinária por Estresse/metabolismo
Limites: Animais
Ratos
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: lil-722172
Autor: Gonçalves, J.O.; Tannuri, A.C.A.; Coelho, M.C.M.; Bendit, I.; Tannuri, U..
Título: Dynamic expression of desmin, α-SMA and TGF-β1 during hepatic fibrogenesis induced by selective bile duct ligation in young rats
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;47(10):850-857, 10/2014. tab, graf.
Idioma: en.
Resumo: We previously described a selective bile duct ligation model to elucidate the process of hepatic fibrogenesis in children with biliary atresia or intrahepatic biliary stenosis. Using this model, we identified changes in the expression of alpha smooth muscle actin (α-SMA) both in the obstructed parenchyma and in the hepatic parenchyma adjacent to the obstruction. However, the expression profiles of desmin and TGF-β1, molecules known to be involved in hepatic fibrogenesis, were unchanged when analyzed by semiquantitative polymerase chain reaction (RT-PCR). Thus, the molecular mechanisms involved in the modulation of liver fibrosis in this experimental model are not fully understood. This study aimed to evaluate the molecular changes in an experimental model of selective bile duct ligation and to compare the gene expression changes observed in RT-PCR and in real-time quantitative PCR (qRT‐PCR). Twenty-eight Wistar rats of both sexes and weaning age (21-23 days old) were used. The rats were separated into groups that were assessed 7 or 60 days after selective biliary duct ligation. The expression of desmin, α-SMA and TGF-β1 was examined in tissue from hepatic parenchyma with biliary obstruction (BO) and in hepatic parenchyma without biliary obstruction (WBO), using RT-PCR and qRT‐PCR. The results obtained in this study using these two methods were significantly different. The BO parenchyma had a more severe fibrogenic reaction, with increased α-SMA and TGF-β1 expression after 7 days. The WBO parenchyma presented a later, fibrotic response, with increased desmin expression 7 days after surgery and increased α-SMA 60 days after surgery. The qRT‐PCR technique was more sensitive to expression changes than the semiquantitative method.
Descritores: Actinas/metabolismo
Colestase/complicações
Desmina/metabolismo
Cirrose Hepática/etiologia
Fígado/metabolismo
Reação em Cadeia da Polimerase em Tempo Real/métodos
Fator de Crescimento Transformador beta1/metabolismo
-Análise de Variância
Actinas/genética
Atresia Biliar
Ductos Biliares/cirurgia
Colágeno Tipo I/biossíntese
Modelos Animais de Doenças
Desmina/genética
Expressão Gênica
Ligadura
Cirrose Hepática/metabolismo
Fígado/cirurgia
Ratos Wistar
Fator de Crescimento Transformador beta1/genética
Limites: Animais
Feminino
Masculino
Responsável: BR1.1 - BIREME


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Id: lil-613430
Autor: Benvenuti, Luiz Alberto; Aiello, Vera Dermarchi; Falcão, Breno Alencar Araripe; Lage, Silvia Gelás.
Título: Patologia do bloqueio atrioventricular na cardiomiopatia por depósito de desmina / Atrioventricular block pathology in cardiomyopathy by desmin deposition / Patología de bloqueo auriculoventricular en la miocardiopatía por depósito de desmina
Fonte: Arq. bras. cardiol;98(1):e3-e6, jan. 2012. ilus.
Idioma: pt.
Resumo: Geralmente, a cardiomiopatia restritiva por deposição de desmina é caracterizada pela restrição ao enchimento diastólico ventricular e por diferentes graus de bloqueio atrioventricular (BAV). Neste relato, são descritas as alterações anatomopatológicas do sistema de condução cardíaco relacionadas ao BAV. O nó sinusal, o nó compacto e o feixe penetrante (feixe de His) não apresentavam anormalidades, entretanto, havia extensa fibrose das porções terminais do feixe ramificante e do início dos feixes esquerdo e direito, no topo do septo ventricular. A patogenia dessa substituição fibrosa é provavelmente a mesma que origina a extensa fibrose do miocárdio ventricular contrátil, e permanece por ser elucidada.

Generally, restrictive cardiomyopathy due to desmin deposition is characterized by restriction to ventricular diastolic filling and different degrees of atrioventricular block (AVB). In this report, we describe the pathological changes of the cardiac conduction system related to AVB. The sinus node, the compact node, and the penetrating bundle (bundle of His) had no abnormalities, however, there was extensive fibrosis of the terminal portions of the branching bundle and the beginning of the left and right bundles at the top of the ventricular septum. The pathogenesis of this fibrous replacement is probably the same that leads to extensive fibrosis of the working ventricular myocardium, and remains to be elucidated.

En general, la miocardiopatía restrictiva, debido a la deposición de desmina se caracteriza por la restricción de llenado diastólico ventricular y por los distintos grados de bloqueo auriculoventricular (BAV). En este informe, se describen los cambios anatómicos y patológicos del sistema de conducción cardiaco relacionado con BAV. El nodo sinusal, el nodo compacto y haz penetrante (haz de His) no tuvo alteraciones, sin embargo, había fibrosis extensa de las porciones terminales del haz en porción ramificante y del comienzo de los haces izquierda y derecha, en la parte superior del tabique ventricular. La patogenia de esta sustitución fibrosa es probablemente la misma que origina la fibrosis extensa del miocardio ventricular contráctil, y queda por dilucidar.
Descritores: Bloqueio Atrioventricular/etiologia
Cardiomiopatia Restritiva/complicações
Desmina/metabolismo
Sistema de Condução Cardíaco/patologia
-Bloqueio Atrioventricular/patologia
Cardiomiopatia Restritiva/patologia
Evolução Fatal
Fibrose
Limites: Adolescente
Adulto
Humanos
Masculino
Tipo de Publ: Relatos de Casos
Responsável: BR1.1 - BIREME


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Id: lil-600261
Autor: Toro Vásquez, Juan Pablo; Madrid Vélez, Jorge Alberto.
Título: Tumores del estroma gastrointestinal (GIST): papel del cirujano en la era de la medicina molecular / Gastrointestinal stromal tumors (GIST): role of the surgeon in the molecular medicine era
Fonte: Iatreia;23(3):268-277, sept. 2010. graf, tab.
Idioma: es.
Resumo: Los tumores del estroma gastrointestinal (GIST, por la sigla en inglés de gastrointestinal stromal tumors) son neoplasias no epiteliales del tubo digestivo y del mesenterio caracterizadas por un patrón histológico y de inmunohistoquímica específico. Hasta 1983 se las clasificaba erróneamente como leiomiomas, leiomioblastomas y leiomiosarcomas; en ese año Mazur y Clark acuñaron el término ''tumor estromal''. Los GIST constituyen menos del 1% de los tumores malignos del tracto gastrointestinal y el 5% de los todos los sarcomas, con una incidencia de 0,68/100.000 habitantes. Se ha documentado que estos tumores son el resultado de mutaciones de los protoncogenes c-Kit y PDGFRα que alteran las cascadas de señales intracelulares. Pueden ocurrir desde el esófago hasta el ano y su forma de presentación clínica depende de la localización y el tamaño. Los GIST primarios son de tratamiento quirúrgico, mientras que en la fase avanzada se puede recurrir a la terapia molecular dirigida, luego del desarrollo del mesilato de imatinib. Hay controversia sobre las terapias adyuvante y neoadyuvante. El presente artículo es una actualización sobre los GIST con base en la literatura disponible al respecto.

Gastrointestinal stromal tumors (GISTs) are a group of non-epithelial neoplasms that affect the gastrointestinal tract and the mesentery. They are characterized by specific histological and immunohistochemical patterns. Until 1983 GISTs were mistakenly classified as leiomyomas, leiomyoblastomas, and leiomyosarcomas. In that year Mazur and Clark introduced the term ''stromal tumor''. These neoplasms constitute less than 1% of gastrointestinal malignancies and 5% of all sarcomas. Their incidence is 0.68/100.000. It has been demonstrated that GISTs are the result of gain-of-function mutations of c-Kit and PDGFRα protoncogenes. They can appear anywhere from the esophagus to 1 Residente de Cirugía General, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia 1 Residente de Cirugía General, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia. 2 Cirujano Oncólogo, Profesor de Cirugía General, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia. Correspondencia: Jorge Madrid Vélez; jamadrid@une.net.co Recibido: agosto 10 de 2009 Aceptado: abril 26 de 2010 the anus. Clinical manifestations depend on their location and size. Treatment of primary GISTs is surgical but in the advanced stages they may be treated with imatinib mesylate, an effective, molecularly targeted therapy. Adjuvant and neoadjuvant therapy are a controversial issue. This article is an update on GISTs based on the available literature.
Descritores: Desmina
Trato Gastrointestinal
Neoplasias
-Endoscopia/métodos
Prognóstico
Limites: Humanos
Tipo de Publ: Revisão
Responsável: CO56.1 - Biblioteca


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Id: lil-577286
Autor: Pérez R., Mayra; Piña-O., Karina.
Título: Tumor del estroma gastrointestinal (TEGI): un estudio de su frecuencia y perfil de inmunohistoquímica / Gastrointestinal stromal tumors: analysis of 51 cases, immunohistochemical expression
Fonte: Rev. chil. cir;62(5):486-490, oct. 2010. ilus, graf.
Idioma: es.
Resumo: Background: Gastrointestinal Stromal Tumors (GIST) have a mesenchymal origin and correspond to 1 percent of all gastrointestinal tumors. They have a benign behavior in approximately 75 percent of cases. They express CD117, CD34, smooth muscle actin, S-100 and desmin, markers that are useful in the differential diagnosis of smooth muscle tumors and those of neurogenic origin. Aim: To report our experience with GIST. Material and Methods: A retrospective, observational study. The pathology reports of GIST in the period 2004-2008 were reviewed. Immunohistochemical expression, pathological grade, mitotic index and histological patterns were reviewed. The medical records of patients were reviewed to obtain age and gender, location, size and presence of metastases. Results: A total of 51 GIST were identified, coming from 21 males and 30 females. Nineteen tumors were located in the small bowel, 18 in the stomach, four in the rectum, two in the colon and in five, the location was not specified. In 28 cases, the pathological pattern was spindle cell, in 12 mixed, in six epithelioid, in three pleomorphic, in one signet ring cell and giant cell in one. Forty nine percent of tumors were of high grade. Metastases were found in the liver in two cases, in the omentum in two and in the spleen, kidney, retroperitoneum and pancreas, in one case each. Two had lymph node involvement. Conclusions: GIST tumor corresponded to a 0.12 percent of all pathology reports during the study period. Most tumors in this series were of high grade.

Introducción: Los Tumores del Estroma Gastrointestinal (TEGI) son de origen mesenquimal comprendiendo el 1 por ciento de todos los tumores GI. Son benignos del 70 a 80 por ciento. Expresan CD117, CD34, actina de músculo liso, S-100 y desmina, marcadores útiles en el diagnóstico diferencial de tumores de músculo liso y tumores de origen neurogénico. Material y Método: Es un estudio retrospectivo y descriptivo. Se revisaron los reportes en el período 2004-2008 registrados como TEGI, valorando la expresión Inmunohistoquímica, grado histológico, índice mitótico, y patrones histológicos. Del reporte histológico se obtuvo la edad y sexo del paciente, localización, tamaño y metástasis. Resultados: Se recolectaron 51 casos corroborados como TEGI. Encontrando una prevalencia del sexo femenino (30) y una edad media de 52 años. Las localizaciones fueron: Intestino delgado (19), estómago (18), no especificado (5), recto (4), colon (2), retroperitoneo (2), no encontramos en esófago. Los patrones encontrados fueron el fusocelular (28), mixto (12), epitelioide (6), pleomórfico (3), células en anillo de sello (1), células gigantes (1). La mayoría (49 por ciento) fue de alto grado, presentando metástasis a hígado (2), ganglios (2), epiplón (2), bazo (1), riñón (1), retroperitoneo (1) y páncreas (1). Discusión: Se realizaron un total de 41.035 estudios histopatológicos, de los cuales 51 casos corresponden a LEGI, esto equivale al 0,12 por ciento. Encontramos tumores en los que su morfología, tamaño e índice mitótico fueron de bajo grado y presentaron metástasis y recidivas al momento del diagnóstico. Veinticinco casos fueron de alto grado (49 por ciento), lo cual es mayor a lo reportado por la literatura 20-30 por ciento, probablemente porque este es un hospital de concentración y generalmente los pacientes acuden a atención médica en una etapa avanzada de la enfermedad.
Descritores: Tumores do Estroma Gastrointestinal/epidemiologia
Tumores do Estroma Gastrointestinal/patologia
-Distribuição por Idade e Sexo
Actinas/análise
/análise
ANTIGENOS CDABORTION, THERAPEUTIC/análise
Desmina/análise
Imuno-Histoquímica
Metástase Neoplásica
Prevalência
Proteínas Proto-Oncogênicas c-kit/análise
Estudos Retrospectivos
Tumores do Estroma Gastrointestinal/metabolismo
Limites: Humanos
Masculino
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Werneck, Lineu Cesar
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Id: lil-528682
Autor: Youssef, Nazah Cherif Mohamad; Scola, Rosana Herminia; Lorenzoni, Paulo José; Werneck, Lineu César.
Título: Nemaline myopathy: clinical, histochemical and immunohistochemical features / Miopatia nemalínica: achados clínicos, histoquímicos e imuno-histoquímicos
Fonte: Arq. neuropsiquiatr;67(3b):886-891, Sept. 2009. ilus, tab.
Idioma: en.
Resumo: Nemaline myopathy (NM) is a congenital disease that leads to hypotonia and feeding difficulties in neonates. Some cases have a more benign course, with skeletal abnormalities later in life. We analyzed a series of eight patients with NM obtained from a retrospective analysis of 4300 muscle biopsies. Patients were classified as having the typical form in five cases, intermediate form in two cases and severe form in one case. Histochemical analysis showed mixed rods distribution in all cases and predominance of type I fibers in five cases. Immunohistochemical analysis showed abnormal nebulin expression in all patients (four heterogeneous and four absent), homogeneous desmin expression in four cases, strongly positive in three and absent in one, fast myosin expression in a mosaic pattern in six cases and absent in two cases. There was no specific relation between these protein expression patterns and the clinical forms of NM.

Miopatia nemalínica (NM) é uma doença congênita que leva a hipotonia e dificuldade de sugar em neonatos. Alguns casos possuem uma evolução benigna, com deformidades ósseas tardias. Nós analisamos uma série de oito pacientes com NM obtidos da análise retrospectiva de 4300 biópsias musculares. Os pacientes foram classificados como forma típica em cinco casos, forma intermediária em dois casos e forma severa em um caso. Análise histoquímica mostrou distribuição mista dos rods em todos os casos e predominância de fibras tipo I em cinco casos. Análise imuno-histoquímica mostrou expressão anormal da nebulina em todos os pacientes (quatro heterogênea e quatro ausente), expressão homogenea da desmina em quatro casos, fortemente positiva em tres e ausente em um, expressão da miosina (rápida) com padrão em mosaico em seis casos e ausente em dois casos. Não há relação específica entre a expressão destas proteínas e as formas clínicas da NM.
Descritores: Desmina/metabolismo
Imuno-Histoquímica
Proteínas Musculares/metabolismo
Músculos/patologia
Miopatias da Nemalina/patologia
Miosinas/metabolismo
-Biópsia
Eletromiografia
Miopatias da Nemalina/metabolismo
Estudos Retrospectivos
Índice de Gravidade de Doença
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