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Fotopoulou C.,Universitatsklinik Charite | Fotopoulou C.,Imperial College London | Kraetschell R.,Universitatsklinik Charite | Dowdy S.,Rochester College | And 13 more authors.
Archives of Gynecology and Obstetrics | Year: 2015

Purpose: To ascertain the spectrum of clinical management of endometrial carcinoma (EC) the largest international survey was conducted to evaluate and identify differences worldwide. Methods: After validation of a 15-item questionnaire regarding surgical and adjuvant treatment of EC in Germany, an English-adapted questionnaire was put online and posted to all the major gynecological cancer Societies worldwide for further distribution commencing in 2010 and continued for 26 months. Results: A total of 618 Institutions around the world participated: Central Europe (CE), Southern Europe (SE), Northern Europe (NE), Asia and USA/Canada/UK. Both a therapeutic and staging value was attributed to systematic pelvic and paraaortic lymph node dissection (LND) in CE (74.6 %) and in Asia (67.2 %), as opposed to USA/UK where LND was mainly for staging purposes (53.5 %; p < 0.001). LND was performed up to the renal veins in CE in 86.8 %, in Asia in 80.8 %, in USA/UK in 51.2 % and in SE in 45.1 % (p < 0.001) of cases. In advanced disease, centers from Asia were treated most with adjuvant chemotherapy alone (93.6 %), as opposed to centers in SE, CE and UK/USA that employed combination chemo-radiotherapy in 90.9 % (p < 0.001) of cases. Paclitaxel/carboplatin was mostly used followed by doxorubicin/cisplatin (75 vs. 23.3 %; p < 0.001). In total, 94 % of all participants supported the concept of treating EC patients within appropriate clinical trials. Conclusions: There is broad range in both the surgical and adjuvant treatment of EC across different countries. Large-scale multicenter prospective trials are warranted to establish consistent, evidence-based guidelines to optimize treatment worldwide. © 2014, Springer-Verlag Berlin Heidelberg.

Yamashita S.,Kitano Hospital Tazuke Kofukai Medical Research Institute | Hata A.,Kitano Hospital Tazuke Kofukai Medical Research Institute | Usui T.,National Hospital Organization Kyoto Medical Center | Oda H.,Kitano Hospital Tazuke Kofukai Medical Research Institute | And 4 more authors.
Journal of Pediatric Endocrinology and Metabolism | Year: 2016

Background: X-linked recessive congenital nephrogenic diabetes insipidus (NDI) is caused by mutations of the arginine vasopressin type 2 receptor gene (AVPR2). More than 200 mutations of the AVPR2 gene with complete NDI have been reported although only 15 mutations with partial NDI has been reported to date. Methods: We herein report a Japanese kindred with partial NDI. The proband is an 8-year-old boy who was referred to our hospital for nocturnal enuresis. Water deprivation test and hypertonic saline test suggested partial renal antidiuretic hormone arginine vasopressin (AVP) resistance. Results: Analysis of genomic DNA revealed a novel missense mutation (p.L161P) in the patient. The patient's mother was heterozygous for the mutation. Three-dimensional (3-D) modeling study showed that L161P possibly destabilizes the transmembrane domain of the V2 receptor, resulting in its misfolding or mislocalization. Conclusions: Distinguishing partial NDI from nocturnal enuresis is important. A clinical clue for diagnosis of partial NDI is an incompatibly high level of AVP despite normal serum osmolality. © 2016 by De Gruyter 2016.

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