The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.
Bedei Andrea*, Carbonara Claudio, Farcomeni Alessio, Castellini Laura and Pietrelli Alessia
Published on: 8th August, 2022
Purpose: The purpose of the study was to evaluate which ocular parameters have an impact on visual results obtained after an extended depth of focus (EDF) wavefront-designed intraocular lens (IOL). Setting: The study was conducted in three Italian centers (private practice in Lucca and two ambulatory surgical centers in Pisa and in Rome) from 01/09/2014 to 30/09/2015.Design: The study population included 178 eyes of 91 patients who had cataract surgery and implantation of an EDF wavefront - designed IOL (Mini Well Ready - SIFI Med Tech S.r.l.).Methods: Preoperative and postoperative refractive corneal spherical aberration (SA), ocular axial length, or anterior chamber depth were measured.Results: The majority of patients were spectacle-independent for near, intermediate, and distance vision and no one reported disturbing halos or glare. No overall significant differences were observed when stratifying anterior chamber depth (ACD) and ocular axial length (AL) by uncorrected distance visual acuity (UCDVA); p = 0.465 and 1.000 respectively, corrected distance visual acuity (CDVA); p = uncorrected near visual acuity (UCNVA); p = 1.000 and 0.728 respectively; p = 1.000 under both parameters and halos; 1.000 under both parameters. Still, there was a statistically significant difference when stratifying SA with 5 mm only by UDVA (p = 0.040).Conclusion: These results are consistent with similar outcomes in the scientific literature as measured with tests of visual acuity, either with or without optical correction. We also demonstrated that these IOLs can be used in myopic and hyperopic eyes, although it may be useful to evaluate the preoperative corneal SA to achieve better results.
I am to express my view that Heighten Science Publications are reliable quick even after peer review process. I hope and wish the publications will go a long way in disseminating science to many interested in scientific research.
College of Fisheries, CAU(I), Tripura, India
Ajit Kumar Roy
Publishing with the International Journal of Clinical and Experimental Ophthalmology was a rewarding experience as review process was thorough and brisk.
Their visibility online is second to none as their published articles appear in all search engines.
I will encourage researchers to publish with them.
Elizabeth Awoyesuku
I was very pleased with the quick editorial process. We are sure that our paper will have great visibility, among other things due to its open access. We believe in science accessible to all.
Anderson Fernando de Souza
Service and process were excellent as was the “look” of the article when published.
Deane Waldman
Your services are very good
Chukwuka Ireju Onyinye
Thank you very much for your support and encouragement. I am truly impressed by your tolerance and support.
Thank you very much
Diaverum: PADC, Jeddah, Saudi Arabia
Nasrulla Abutaleb
The services of the journal were excellent. The most important thing for an author is the speed of the peer review which was really fast here. They returned in a few days and immediately replied all of my questions. I want to refer this platform to all scholars.
Many thanks.
Eastern Mediterranean University, Cyprus
Zehra Guchan TOPCU
Dear colleagues! I am satisfied with our cooperation with you. Your service is at a high level. I hope for a future relationship. Let me know if I can get a paper version of the magazine with my articles from you. I see them on the Internet.
Aksenov V.V
It has been a fabulous journey writing articles for your journal because of the encouragement you people provide for writers from developing nations like India. Kindly continue the same. Looking forward for a long term association.
Badareesh Lakshminarayana
Submission of paper was smooth, the review process was fast. I had excellent communication and on time response from the editor.
If you are already a member of our network and need to keep track of any developments regarding a question you have already submitted, click "take me to my Query."