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Dissanayake VH Bandarage P Pedurupillay CR Jayasekara RW 《Indian journal of human genetics》2010,16(3):164-165
Pentasomy 49,XXXXY is a rare sex chromosome disorder usually presenting with ambigous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. The incidence of the condition is estimated to be 1 in 85,000 male births. Previously, this condition was identified as a Klinefelter variant. The condition is suspected in a patient, by a combination of characteristic clinical findings, and the diagnosis is confirmed by chromosome culture and karyotyping. In the case we report here, the main presentation of ambiguous genitalia led to a suspicion of a sex chromosome aneuploidy which was subsequently confirmed by chromosomal analysis. 相似文献
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The synthesis of a backbone bicyclic nonapeptide that mimics the binding site of bovine pancreatic trypsin inhibitor (BPTI) is described. The BPTI mimetic, which contains cis-thioproline replacing Cys38 of the protein, inhibits trypsin with a Ki of 76 M. 相似文献
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Ron Kasher Gal Bitan Christeen Halloun Chaim Gilon 《International journal of peptide research and therapeutics》1998,5(2-3):101-103
Summary The synthesis of a backbone bicyclic nonapeptide that mimics the binding site of bovine pancreatic trypsin inhibitor (BPTI)
is described. The BPTI mimetic, which containscis-thioproline replacing Cys38 of the protein, inhibits trypsin with a K
i
of 76 μM. 相似文献
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Rushil Patel John Roberson Devina Prakash Rina Meyer Laura Hogan Christeen Azmy Valmore Suprenant Samuel Ryu Alexander Stessin 《Reports of Practical Oncology and Radiotherapy》2021,26(1):143
Primary hepatic rhabdomyosarcoma is rare, making decisions regarding locoregional management with resection and/or conventional radiation difficult. We present a novel treatment approach for a pediatric patient diagnosed with rhabdomyosarcoma diffusely involving the liver. This patient underwent treatment with yttrium-90 (Y-90) microspheres followed by external beam radiation therapy (EBRT ) to residual disease, interdigitated with systemic chemotherapy. Initial post-radiation imaging showed significant response to treatment, and she experienced minimal acute toxicities and no long-term toxicities. She developed recurrent PET-avid disease 23 months after Y-90 treatment, necessitating further local and continued systemic therapies. We report on the tumor control following Y-90 and EBRT treatment. 相似文献
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