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  • International consensus on natural orifice specimen extraction surgery (NOSES) for colorectal cancer
    Publication . Guan, X; Liu, Z; Longo, A; Cai, JC; Tzu-Liang Chen, W; Chen, L; Chun, HK; Costa Pereira, JM; Efetov, S; Escalante, R; He, QS; Hu, JH; Kayaalp, C; Kim, SH; Khan, JS; Kuo, LJ; Nishimura, A; Nogueira, F; Okuda, J; Saklani, A; Shafik, AA; Shen, MY; Son, JT; Song, JM; Sun, DH; Uehara, K; Wang, GY; Wei, Y; Xiong, ZG; Yao, HL; Yu, G; Yu, SJ; Zhou, HT; Lee, SH; Tsarkov, PV; Fu, Chuan-Gang; Wang, Xi-Shan
    In recent years, natural orifice specimen extraction surgery (NOSES) in the treatment of colorectal cancer has attracted widespread attention. The potential benefits of NOSES including reduction in postoperative pain and wound complications, less use of postoperative analgesic, faster recovery of bowel function, shorter length of hospital stay, better cosmetic and psychological effect have been described in colorectal surgery. Despite significant decrease in surgical trauma of NOSES have been observed, the potential pitfalls of this technique have been demonstrated. Particularly, several issues including bacteriological concerns, oncological outcomes and patient selection are raised with this new technique. Therefore, it is urgent and necessary to reach a consensus as an industry guideline to standardize the implementation of NOSES in colorectal surgery. After three rounds of discussion by all members of the International Alliance of NOSES, the consensus is finally completed, which is also of great significance to the long-term progress of NOSES worldwide.
    2019-02Journal article Open access Show more
  • High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism
    Publication . Gonçalves, CI; Patriarca, FM; Aragüés, JM; Carvalho, D; Fonseca, F; Martins, S; Marques, O; Pereira, BD; Martinez-de-Oliveira, J; Lemos, MC
    Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormalities), but have also been found in patients with isolated CHH. The aim of this study was to identify CHD7 mutations in patients with CHH. Fifty Portuguese patients with CHH were screened for mutations in the CHD7 gene by DNA sequencing. Eight (16%) patients had CHD7 rare sequence variants that consisted of six missense (p.Gly388Glu, p.His903Pro, p.Thr1082Ile, p.Val1452Leu, p.Asp1854Gly, and p.Arg2065His) and two synonymous (p.Ser559Ser, and p.Ala2785Ala) mutations. Five of these mutations have never been reported before. Three CHD7 mutations occurred in patients that had mutations in additional CHH-genes. This study uncovered novel genetic variants that expand the known spectrum of mutations associated with CHH. The frequency of CHD7 mutations in this cohort was higher than that of other major CHH-genes and confirms the importance of including CHD7 in the genetic testing of CHH, even in the absence of additional CHARGE features.
    2019-02-07Journal article Open access Show more