31 research outputs found

    A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR)

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    Prader-Willi syndrome (PWS) is a multiple anomalies/mental retardation syndrome. The putative PWS gene(s) remains unknown, and its occurrence is based on genomic imprinting at chromosome 15q11-q13. We have constructed a 1.5- Mb, fine, physical map of PWS critical region (PWCR) between two markers, D15S9 and D15S174 at 15q11-q13. The map is composed of 32 PAC and 3 BAC clones without any gaps. By the PAC/BAC-end sequencing procedure, a total of 26 sequence tag site (STS) markers were newly generated, and 5 expressed sequence tags (ESTs) were mapped in the region. The contig map was verified by both STS and fluorescence in situ hybridization analyses. Our map has higher resolution, compared with a previous YAC-based map of PWCR. It is useful for further genome analysis, especially on genomic imprinting of this region

    Successful management of preoperatively diagnosed torsion of a subserosal uterine fibroid by pneumoperitoneum laparoscopic single-port surgery

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    Objective: Preoperative diagnosis and successful management of acute torsion of a subserosal fibroid by using appropriate imaging modalities and single-port laparoscopic surgery. Case report: A 44-year-old nulliparous woman presented with lower abdominal pain. Computed tomography and magnetic resonance imaging with contrast enhancement revealed a tumor in the pouch of Douglas with a low contrast at the center and thin-rim enhancement. Torsion of a uterine subserosal fibroid was diagnosed preoperatively. Laparoscopic single-port surgery by pneumoperitoneum was performed. Torsion of the pedicle attached to the uterine wall was excised by bipolar coagulation and cut with scissors. The extirpated fibroid was extracted from the umbilical wound. The pneumoperitoneum single-port laparoscopic surgery was completed as a gynecologic emergency operation. Conclusion: Torsional uterine fibroids are difficult to diagnose preoperatively as symptoms are nonspecific and need emergent surgical management as an acute abdomen. Preoperative diagnosis using appropriate imaging modalities is important to perform single-port laparoscopic surgery

    Successful management of pelvic recurrence of MSI-High endometrial cancer by total pelvic exenteration followed by administration of pembrolizumab:A case report

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    Surgery can be curative treatment for pelvic locoregional recurrence of endometrial cancer; however, a cure is contingent on complete resection. Here, we report the case of a patient in whom recurrent endometrial tumor remained in the pelvis after resection; long-term control was achieved with postoperative administration of pembrolizumab.The patient had recurrent endometrial cancer of stage IA and was treated with chemotherapy and radiation, but tumor persisted in the pelvic cavity. We therefore attempted total pelvic exenteration, but the tumor was adherent to the pelvic wall and complete resection could not be achieved. However, postoperative administration of pembrolizumab controlled the residual tumor for more than two years without regrowth. We believe that since the resected tumor was MSI-High, the residual tumor responded well to pembrolizumab. It is not known whether cytoreductive surgery contributes to a long-term response to pembrolizumab, but at least in our patient, pembrolizumab appeared to be a very effective drug therapy for MSI-High endometrial cancer that was refractory to chemotherapy and radiotherapy

    Anticancer Agents Targeted to Sirtuins

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    Sirtuins are nicotinamide adenine dinucleotide+-dependent deacetylases of which there are seven isoforms (SIRT1–7). Sirtuin activity is linked to gene expression, lifespan extension, neurodegeneration, and age-related disorders. Numerous studies have suggested that sirtuins could be of great significance with regard to both antiaging and tumorigenesis, depending on its targets in specific signaling pathways or in specific cancers. Recent studies have identified small chemical compounds that modulate sirtuins, and these modulators have enabled a greater understanding of the biological function and molecular mechanisms of sirtuins. This review highlights the possibility of sirtuins, especially SIRT1 and SIRT2, for cancer therapy targets, and focuses on the therapeutic potential of sirtuin modulators both in cancer prevention and treatment
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