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1.
Zhonghua Bing Li Xue Za Zhi ; 53(1): 58-63, 2024 Jan 08.
Artigo em Chinês | MEDLINE | ID: mdl-38178748

RESUMO

Objective: To investigate the clinicopathological and genetic features of epithelioid and spindle cell rhabdomysarcoma with EWSR1-TFCP2 or FUS-TFCP2 fusion. Methods: The clinical, morphological and immunohistochemical features of 14 cases of epithelioid and spindle cell rhabdomysarcoma with EWSR1-TFCP2 or FUS-TFCP2 fusion diagnosed from January 2019 to December 2022 in the Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan, China were retrospectively analyzed. The cases were all subject to FISH or next generation sequencing for analysis of molecular genetic features. The literature was reviewed. Results: There were 5 males and 9 females, with the age at presentation ranging from 6 to 36 years (mean, 22 years). Tumors occurred in the head and neck (9 cases), pelvic region (2 cases), bladder (one case), right humerus (one case), and the abdominal wall, humerus and pubic at the same time (one case). Presenting symptoms varied by location but often included pain or discomfort. Most of the patients showed aggressive radiographic features with soft tissue extension. The tumors had a median size of 6.6 cm (range, 2-23 cm). The tumors were poorly defined and irregularly shaped. Microscopic examination showed diffuse proliferation of spindle or epithelioid cells. While morphologically high-grade tumors displayed obvious cytological atypia, a high mitotic count and tumor necrosis, low-grade tumors grew in sheets and fascicles composed of spindle, epithelioid cells with moderate or abundant amounts of eosinophilic cytoplasm, without pronounced cytological atypia. The tumor cells expressed Desmin, MyoD1, and Myogenin, as well as ALK, EMA, and CKpan. EWSR1/FUS-TFCP2 gene fusion was detected in 14 cases with next generation sequencing and confirmed by FISH. Six cases had EWSR1-TFCP2 fusions and 8 cases showed FUS-TFCP2 fusions. Follow-up information was available in 13 patients, ranged from 5 to 37 months. At the end of follow-up period, 7 patients died of the disease. Six patients were alive:two cases had local recurrences and metastases, two cases of recurrences, one case of metastasis and one case without recurrences and metastasis. Conclusions: Epithelioid and spindle cell rhabdomysarcomas with EWSR1-TFCP2 or FUS-TFCP2 fusion show a very aggressive clinical course, and more commonly occur in the head and neck. Their genetic hallmark is the presence of EWSR1/FUS-TFCP2 fusions. Familiarity with its clinicopathological characteristics is helpful in avoiding misdiagnoses.


Assuntos
Rabdomiossarcoma , Fatores de Transcrição , Masculino , Feminino , Humanos , Criança , Adolescente , Adulto Jovem , Adulto , Estudos Retrospectivos , Fatores de Transcrição/genética , Proteína EWS de Ligação a RNA/genética , China , Biomarcadores Tumorais/genética , Proteínas de Ligação a DNA/genética , Proteína FUS de Ligação a RNA/genética
3.
Poult Sci ; 99(12): 6764-6773, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33248592

RESUMO

Mineral nutrition plays a critical role in growth and bone mineralization in meat ducks as well as reproductive performance in duck layers and duck breeders. In addition to improving production performance parameters, minerals are also essential to support several enzymatic systems to enhancing antioxidant ability and immune function. This review explores the biological function and metabolism of minerals in the body, as well as mineral feeding strategy of various species of ducks. Topics range from mineral requirement to the physiological role of macroelements such as calcium and phosphorus and microelements such as zinc and selenium, etc. As with the improvement of genetic evolution and upgrade of rearing system in duck production, mineral requirements and electrolyte balance are urgent to be re-evaluated using sensitive biomarkers for the modern duck breed characterized by the rapid growth rate and inadequate bone development and mineralization. For duck breeders, mineral nutrition is not only required for maximal egg production performance but also for maintaining normal embryonic development and offspring's performance. Therefore, the proper amounts of bioavailable minerals need to be supplemented to maintain the mineral nutritional state of duck species during all phases of life. In addition, more positive effects of high doses microelements supplementations have been revealed for modern meat ducks subjected to various stresses in commercial production. The nutritional factors of mineral sources, supplemental enzymes, and antinutritional factors from unconventional ingredients should be emphasized to improve the effectiveness of mineral nutrition in duck feed formulation. Organic mineral sources and phytase enzymes have been adopted to reduce the antagonistic action between mineral and antinutritional factors. Therefore, special and accurate database of mineral requirements should be established for special genotypes of ducks under different rearing conditions, including rearing factors, environmental stresses and diets supplemented with organic sources, phytase and VD3.


Assuntos
Dieta , Suplementos Nutricionais , Patos , Minerais , Ração Animal/análise , Ração Animal/normas , Animais , Dieta/veterinária
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