Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism
Published on: 24th March, 2021
OCLC Number/Unique Identifier: 9272364196
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.
Influence of corneal spherical aberration, anterior chamber depth, and ocular axial length on the visual outcome with an extended depth of focus wavefront-designed intraocular lens
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.
Search by University/Institution
Enter your University/Institution to find colleagues at HSPI.
Ensuring author's satisfaction with
- Friendly and hassle-free publication process
- Less production time of articles
- Constructive peer-review
- Enhancing journal reputation
- Regular feedback system
- Quick response to authors' queries
Most Viewed Keywords
- Costal cartilage
- Thrombosis
- Lateral sinus thrombosis
- Chronic renal failure
- Vaginal Drug Delivery Systems (VDDSs)
- Intracerebral hemorrhage
- Thymoglobulin
- Strophanthus hispidus
- Radiotherapy
- ROMA
- Architecture
- Neutrophil to Lymphocyte Ratio
- Hemangioma
- Shoulder dystocia
- Gestational weight gain
- Dynamic panel data
- Brain imaging
- Episiotomy
- Forensics
- Goldenhar syndrome
Search Articles by Country
Get all latest articles in all Heighten Science Publications Inc journals by country.
Testmonials
“It was a delightful experience publishing my manuscript with the Clinical Journal of Obstetrics and Gynecology. They offered me lots of opportunities I never had from most publishing houses and the...
Department of Agricultural Economics, Agribusiness...
Akowuah Jones Asafo
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 inter...
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 t...
University of Port Harcourt Teaching Hospital, Nig...
Dr. Elizabeth A Awoyesuku
I am glad to submit the article to Heighten Science Publications as it has a very smooth and fast peer-review process, which enables the researchers to communicate their work on time.
Anupam M
Thank you very much for accepting our manuscript in your journal “International Journal of Clinical Virology”. We are very thankful to the esteemed team for timely response and quick review proces...
Abdul Baset
I, Muhammad Sarwar Khan, am serving as Editor on Archives of Biotechnology and Biomedicine (ABB). I submitted an editorial titled, 'Edible vaccines to combat Infectious Bursal Disease of poultry' for ...
University of Agriculture, Pakistan
Muhammad Sarwar Khan
The Clinical Journal of Obstetrics and Gynecology is an open access journal focused on scientific knowledge publication with emphasis laid on the fields of Gynecology and Obstetrics. Their services to...
Carole Assontsa
To the editorial team at HSPI and the Journal of Clinical Nephrology: Thank you so much for your hard work and collaboration in bringing our article to life. Your staff was responsive, flexible, and ...
Alejandro Munoz
We thank to the heighten science family, who speed up the publication of our article and provide every support.
Mehmet Besir
I like the quality of the print & overall service. The paper looks quite impressive. Hope this will attract interested readers. All of you have our best wishes for continued success.
Arshad Khan
