Yam Code

New Paste Browse

https://www.selleckchem.com/products/tetrathiomolybdate.html © 2020 Wiley Periodicals, Inc.Pathogenic variants in the Golgi localised alpha 1,6 fucosyltransferase, FUT8, cause a rare inherited metabolic disorder known as FUT8-CDG. To date, only three affected individuals have been reported presenting with a constellation of symptoms including intrauterine growth restriction, severe delays in growth and development, other neurological impairments, significantly shortened limbs, respiratory complications, and shortened lifespan. Here, we report an additional four unrelated affected individuals homozygous for novel pathogenic variants in FUT8. Analysis of serum N-glycans revealed a complete lack of core fucosylation, an important diagnostic biomarker of FUT8-CDG. Our data expands both the molecular and clinical phenotypes of FUT8-CDG and highlights the importance of identifying a reliable biomarker for confirming potentially pathogenic variants. © 2020 SSIEM.INTRODUCTION Recto-vaginal endometriosis surgical management needing partial colpectomy is a surgically challenging condition and has been associated with a notable risk of major postoperative complications. In the present study we sought to compare feasibility and safety of total laparoscopic (TL) and vaginal-assisted (VA) routes in women affected by symptomatic recto-vaginal endometriosis with vaginal mucosa infiltration scheduled for minimally invasive surgery. MATERIAL AND METHODS Multi-centric, retrospective cohort study on medical records of consecutive reproductive age women submitted to complete macroscopic eradication of symptomatic recto-vaginal endometriosis with vaginal mucosa infiltration between March 2013 and November 2017. The two groups were compared in terms of preoperative data and surgical outcomes. RESULTS 84 women were included in the study (TL = 57 and VA = 27). The two groups were comparable in terms of preoperative, surgical and postoperative data. The major postoperative complications rate

Paste Settings

Paste Title : [Optional]

Paste Folder : [Optional]

Syntax Highlighting : [Optional]

Paste Expiration : [Optional]

Paste Status : [Optional]

Password : [Optional]

Description: [Optional]

Tags: [Optional]

Encrypt Paste (?)

You are currently not logged in, this means you can not edit or delete anything you paste. Sign Up or Login

Paste Settings

Site Languages