Results 21 to 30 of about 309,795 (229)

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Construction and Preliminary Application of a Rncat Congenital Cataract Mouse Model

Shiyan dongwu yu bijiao yixue, 2021
Congenital cataract is the main cause of blindness in children. The Center for Disease Control and Prevention of Xinjiang Uygur Autonomous Region successfully constructed mouse models of congenital cataracts.
ZHANG Yan, YAN Shunsheng
doaj   +1 more source

Cataracts in congenital toxoplasmosis [PDF]

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2007
To determine the incidence and natural history of cataracts in children with congenital toxoplasmosis.Children referred to the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS) between 1981 and 2005 were examined by ophthalmologists at predetermined times according to a specific protocol.
Veena, Arun, A Gwendolyn, Noble, Paul, Latkany, Robert N, Troia, Jessica, Jalbrzikowski, Kristen, Kasza, Ted, Karrison, Simone, Cezar, Mari, Sautter, Mark J, Greenwald, William, Mieler, Marilyn B, Mets, Ambereen, Alam, Kenneth, Boyer, Charles N, Swisher, Nancy, Roizen, Peter, Rabiah, Monte A, Del Monte, Rima, McLeod   +18 more
openaire   +2 more sources

Keratometric measurements of cornea in first three years of life in children with congenital cataract [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2008
INTRODUCTION Keratometry is a measurement curvature of the central 2-3mm of the anterior cornea and main meridians (horizontal and vertical) and secondary calculation of the full optic power of the cornea.
Marjanović Ivan, Stefanović Ivan, Vlajković Gordana   +2 more
doaj   +1 more source

IDENTIFICATION OF TORCH PATHOGENS IN CONGENITAL CATARACT PATIENTS VISITING ARMED FORCES INSTITUTE OF OPHTHALMOLOGY

Pakistan Armed Forces Medical Journal, 2021
Objective: To assess the rate of positivity of Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (TORCH) pathogens in patients suffering from congenital cataract in Pakistan. Study Design: Cross sectional comparative study.
Mamoona Javaid, Hannan Masud, Hassan Sajjad Rathore, Dilshad Ali, Haroon Javaid   +4 more
doaj   +3 more sources

The influence of congenital and developmental cataract surgery on the ocular surface in a six-month follow-up prospective clinical study

BMC Ophthalmology, 2022
Background The purpose of this study was to identify changes in tear film function and meibomian gland function in children after congenital/developmental cataract surgery.
Xiaolei Lin, Hongzhe Li, Xiyue Zhou, Xin Liu, Fan Fan, Tianke Yang, Yi Luo   +6 more
doaj   +1 more source

The Outcome after Surgery of Patients with Congenital Cataract in the Outpatient Clinic of RSUD Dr. Soetomo Surabaya in January 2014 – January 2017

Juxta: Jurnal Ilmiah Mahasiswa Kedokteran Universitas Airlangga, 2019
Introduction: Congenital cataract is a leading cause of childhood blindness. Congenital cataract is characterized by an opacification of the lens that has existed from birth or shortly after birth.
Lady Sherly Nuramalia, Indri Wahyuni, Prastiya Indra Gunawan   +2 more
doaj   +1 more source

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family

Journal of Ophthalmology, 2020
Purpose. To screen out pathogenic genes in a Chinese family with congenital cataract and iris coloboma. Material and Methods. A three-generation family with congenital cataract and iris coloboma from a Han ethnicity was recruited.
Bin Li, Bin Lu, Xuewen Guo, Shenghui Hu, Guihu Zhao, Weihong Huang, Jianzhong Hu, Kun Song   +7 more
doaj   +1 more source

Visual outcomes of bilateral congenital and developmental cataracts in young children in south India and causes of poor outcome. [PDF]

, 2013
CONTEXT: Bilateral pediatric cataracts are important cause of visual impairment in children. AIM: To study the outcome of bilateral pediatric cataract surgery in young children.
Krishnaiah, Sannapaneni, Gogate, Parikshit M, Mehta, Manohar K, Rohit C Khanna, Foster, Allen, Khanna, Rohit C, Parikshit M Gogate, Allen Foster, Manohar K Mehta, Sannapaneni Krishnaiah   +9 more
core   +1 more source

Development of a potent embryonic chick lens model for studying congenital cataracts in vivo

Communications Biology, 2021
Li et al. report an embryonic chick lens model to study the onset of congenital cataracts. By injecting recombinant retrovirus containing mutants that cause congenital cataract in lumen of embryonic chick lens, they show that their model exhibits ...
Zhen Li, Sumin Gu, Yumeng Quan, Kulandaiappan Varadaraj, Jean X. Jiang   +4 more
doaj   +1 more source