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1.
Rev. méd. (La Paz) ; 27(1): 47-53, 2021. ilus
Artigo em Espanhol | LILACS | ID: biblio-1289834

RESUMO

La "Ascitis Quilosa o Quiloperitoneo", es una entidad clínica rara con incidencia baja y de difícil diagnóstico, poco conocida alrededor del mundo sobre todo en la comunidad quirúrgica, misma que fue descrita por primera vez en 1691. El objetivo del presente artículo es exponer un caso de Ascitis Quilosa o Quiloperitoneo, diagnosticado y tratado en el Centro de Especialidades Clínico - Quirúrgicas Jesús Obrero, en un paciente masculino de 36 años; tras la revisión de antecedentes quirúrgicos, sintomatología, semiología, estudios imagenológicos, laboratoriales, y la revisión sistemática de la literatura; se llegó al diagnóstico final. Además se enfocara no solo conocimientos históricos, etiológicos y fisiopatológicos, sino medios diagnósticos y planes terapéuticos estandarizados conservadores, que implica tomar en cuenta en esta patología una vez diagnosticada; siendo esta una manera de acumular experiencia en el adecuado manejo y a su vez aportar a la literatura médica nacional en el levantamiento epidemiológico y casuístico de esta variedad rara y poco frecuente patología abdominal.


The “Chilosa Ascites or Quiloperitoneo”, is a rare clinical entity with low incidence and difficult to diagnose, little known around the world especially in the surgical community, which was first described in 1691. The objective of this article is to expose a case of Chilosa Ascites or Quiloperitoneo, diagnosed and treated at the Center for Clinical Specialties - Surgical Jesus Obrero, in a male patient of 36 years; after reviewing surgical backgrounds, symptomatology, semiology, imaging, laboratorial studies, and systematic review of literature; the final diagnosis was reached. In addition, it will focus not only historical, etiological and pathophysiological knowledge, but also conservative diagnostic means and standardized therapeutic plans, which involves taking into account this pathology once diagnosed; this being a way to accumulate experience in the proper management and in turn contribute to the national medical literature in the epidemiological and casuistic uprising of this rare and rare abdominal pathology variety.


Assuntos
Ascite Quilosa
2.
BMC Womens Health ; 5: 8, 2005 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-15918899

RESUMO

BACKGROUND: Dysregulation of the human Transforming Acidic Coiled Coil (TACC) genes is thought to be important in the development and progression of multiple myeloma, breast and gastric cancer. Recent, large-scale genomic analysis and Serial Analysis of Gene Expression data suggest that TACC1 and TACC3 may also be involved in the etiology of ovarian tumors from both familial and sporadic cases. Therefore, the aim of this study was to determine the occurrence of alterations of these TACCs in ovarian cancer. METHODS: Detection and scoring of TACC1 and TACC3 expression was performed by immunohistochemical analysis of the T-BO-1 tissue/tumor microarray slide from the Cooperative Human Tissue Network, Tissue Array Research Program (TARP) of the National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. Tumors were categorized as either positive (greater than 10% of cells staining) or negative. Statistical analysis was performed using Fisher's exact test and p < 0.05 (single comparisons), and p < 0.02 (multiple comparisons) were considered to be significant. Transgenomics WAVE high performance liquid chromatography (dHPLC) was used to pre-screen the TACC3 gene in constitutional DNA from ovarian cancer patients and their unaffected relatives from 76 families from the Gilda Radner Familial Ovarian Cancer Registry. All variant patterns were then sequenced. RESULTS: This study demonstrated absence of at least one or both TACC proteins in 78.5% (51/65) of ovarian tumors tested, with TACC3 loss observed in 67.7% of tumors. The distribution pattern of expression of the two TACC proteins was different, with TACC3 loss being more common in serous papillary carcinoma compared with clear cell carcinomas, while TACC1 staining was less frequent in endometroid than in serous papillary tumor cores. In addition, we identified two constitutional mutations in the TACC3 gene in patients with ovarian cancer from the Gilda Radner Familial Ovarian Cancer Registry. These patients had previously tested negative for mutations in known ovarian cancer predisposing genes. CONCLUSION: When combined, our data suggest that aberrations of TACC genes, and TACC3 in particular, underlie a significant proportion of ovarian cancers. Thus, TACC3 could be a hitherto unknown endogenous factor that contributes to ovarian tumorigenesis.

3.
Rev. méd. (La Paz) ; 25(1): 48-57, Enero-Junio, 2019. ilus
Artigo em Espanhol | LILACS | ID: biblio-1101750

RESUMO

El Síndrome de "Doege - Potter" es una entidad clínica rara con incidencia baja de difícil diagnóstico, poco conocida alrededor del mundo descrita en 1930, el cual consiste en un tumor intratorácico asociado a hipoglicemi asintomática. El objetivo del presente artículo es exponer un caso de "Síndrome de Doege-Potter", diagnosticado y tratado en el Centro de Especialidades Clínico - Quirúrgicas Jesús Obrero, en un paciente masculino de 55 años; tras la revisión sintomatológica, semiológica/topográfica, estudios imagenologicos, anatomopatologicos, y la revisión sistemática de la literatura internacional se llegó al diagnóstico final. Además se enfocara no solo conocimientos históricos, etiológicos y fisiopatológicos, sino medios diagnósticos estandarizados, que implica tomar en cuenta en esta patología una vez diagnosticada, para poder direccionar el tratamiento más adecuado según los hallazgos y el estado del paciente; siendo esta una manera de aportar en el levantamiento epidemiológico y casuístico de esta variedad rara y poco frecuente patología torácica a nivel mundial.


"Doege - Potter" syndrome is a rare clinical entity with low incidence of difficult diagnosis, little-known around the world described in 1930, which consists of an intrathoracic tumor associated with symptomatic hypoglycemia. The aim of this article is to expose a case of "syndrome of Doege-Potter", diagnosed and treated in the Centre of specialties Clinical - surgical Jesús Obrero, in a 55-year-old male patient; after reviewing symptomatology, / topographic, semiological studies imaging, pathological, and the systematic review of the international literature became the final diagnosis. In addition, focuses not only etiological, historical knowledge and physiopathological, but standardized diagnostic means, which implies taking into account in this disease diagnosed once, to be able to address the most appropriate treatment according to the findings and the patient's condition; this being a way to bring in the epidemiological and case lifting of this rare variety and frequent short thoracic pathology worldwide.


Assuntos
Hipoglicemia
6.
Genes Chromosomes Cancer ; 44(1): 85-96, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15940691

RESUMO

We have analyzed 18 low-grade gliomas using array comparative genomic hybridization (aCGH) with an average resolution of <500 kb. Because the majority of these tumors showed loss of chromosome arms 1p and 19q, we used custom statistical approaches to define submegabase hemizygous losses throughout the genome that correlated with 19q loss. As a result of this analysis, we have identified a approximately 550-kb region in 11q13 and a approximately 300-kb region in 13q12 that showed hemizygous deletion in virtually all the tumors analyzed regardless of their 1p/19q status. FISH analyses of interphase nuclei from the same tumors used for aCGH analysis confirmed the hemizygous loss. The identification of such specific changes provides a potentially very useful diagnostic marker for this subgroup of low-grade tumors. These regions of the genome define small numbers of candidate genes that are within the deletions. The aCGH analysis also defined the spectrum of gain and loss of genomic regions in low-grade oligodendrogliomas.


Assuntos
Neoplasias Encefálicas/genética , Hibridização de Ácido Nucleico , Oligodendroglioma/genética , Deleção de Sequência , Cromossomos Artificiais Bacterianos , Glioma/genética , Glioma/patologia , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Análise de Sequência com Séries de Oligonucleotídeos
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