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1.
JAMSAT-Journal of Advances Medical Sciences and Applied Technologies. 2017; 3 (2): 69-76
em Inglês | IMEMR | ID: emr-194967

RESUMO

Objectives: It is important to recognize and diagnose various forms of ovulatory failure that contribute to infertility. Polycystic Ovary Syndrome [PCOS] is one such failure characterized by the formation of numerous follicles in the ovary. This disorder seriously affects women's health and it is diagnosed by ultrasound imaging which gives important information on the number of follicles and their size


Materials and Methods: These follicles are fluid filled structures that exhibit echo texture. Texture features of the follicle wall for both normal and PCOS dominant follicles are evaluated over a period of seven days before ovulation


Results: By considering these features, follicle growth rate is investigated in normal and PCOS


Conclusion: The results supported the hypothesis that quantitative changes in echo texture are reflecting the changes in the physiologic status of the normal ovary

2.
Indian J Hum Genet ; 2013 July-Sept ;19 (3): 373-376
Artigo em Inglês | IMSEAR | ID: sea-156598

RESUMO

Von Hippel‑Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumors, especially cerebellar hemangioblastomas, retinal angiomas and clear‑cell renal cell carcinomas (RCC). We have identified of VHL gene using immunohistochemistry in a patient who was diagnosed for RCC. In order to understand the involvement of mutation in the VHL gene exon 1 was amplified and sequenced (accession number: JX 401534). The sequence analysis revealed the presence of novel missense mutations c.194 C>T, c.239 G>A, c.278 G>A, c.319 C>G, c. 337 C > G leading to the following variations p.Ala 65 Val, p.Gly 80 Asp, p.Gly 93 Glu, p.Gln 107 Glu, p.Gln 113 Glu in the protein.


Assuntos
Carcinoma de Células Renais/epidemiologia , Humanos , Mutação de Sentido Incorreto/etiologia , Mutação de Sentido Incorreto/genética , Doença de von Hippel-Lindau/epidemiologia , Doença de von Hippel-Lindau/genética
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