Results 41 to 50 of about 281,817 (339)

Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases

open access: yesFrontiers in Genetics
ObjectiveTo determine the genetic causes of monogenic inherited diseases in a couple using clinical whole exome sequencing (WES) and advise on their reproductive choices.MethodsWES was applied to a couple seeking reproductive advice, the female with ...
Yanan Wang   +5 more
doaj   +1 more source

Do Connexin Mutants Cause Cataracts by Perturbing Glutathione Levels and Redox Metabolism in the Lens?

open access: yesBiomolecules, 2020
Cataracts of many different etiologies are associated with oxidation of lens components. The lens is protected by maintenance of a pool of reduced glutathione (GSH) and other antioxidants.
Oscar Jara   +3 more
doaj   +1 more source

Nrf2 as a target for prevention of age‐related and diabetic cataracts by against oxidative stress

open access: yesAging Cell, 2017
Cataract is one of the most important causes of blindness worldwide, with age‐related cataract being the most common one. Agents preventing cataract formation are urgently required.
Xiu-Fen Liu   +8 more
semanticscholar   +1 more source

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts [PDF]

open access: yes, 2003
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.
Abitbol, M.   +11 more
core   +2 more sources

Comparing Effects of Listening to Nature Sounds and Lavender Inhalation on Hemodynamic Parameters among Patients Undergoing Cataract Surgery with Regional Anesthesia: A Randomized Controlled Trial [PDF]

open access: yesJournal of Mazandaran University of Medical Sciences, 2023
Background and purpose: Candidates for cataract surgery have high anxiety and worry for various reasons which may cause changes in their hemodynamic parameters. Maintaining hemodynamic stability during anesthesia and surgery is very important. This study
Reza Pourmohammad   +4 more
doaj   +1 more source

Optical properties of artificial intraocular lenses and considerations for additive manufacturing

open access: yesFrontiers in Medicine
Cataracts, a leading cause of blindness in the world, are commonly treated by replacing the ocular lens with an artificial intraocular lens (IOL).
Bushra Brighesh   +7 more
doaj   +1 more source

The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research [PDF]

open access: yes, 2017
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the ...
Atalaia, Antonio   +18 more
core   +4 more sources

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

open access: yesHuman Mutation, 2016
Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and glaucoma, and there can be syndromic associations.
A. Ma   +15 more
semanticscholar   +1 more source

Risk Factors of Cataract Incidence In Patients Men Age 40-55 Years At Pertamina Hospital Balikpapan

open access: yesWindow of Health, 2018
Cataracts occur due to opacities in the lens of the eye resulting in hanging of light into the eyeball, so the vision becomes blurred and over time can cause blindness. One of the most common causes of blindness worldwide is cataracts. Increased cases of
Andi Dewi Sari   +2 more
doaj   +1 more source

Associations of Humidity and Temperature With Cataracts Among Older Adults in China

open access: yesFrontiers in Public Health, 2022
BackgroundThe burden of cataracts was substantial in the current aging world. However, few epidemiological studies have examined the associations between climate and weather conditions and cataract in older populations.
Xiaoyang Lv   +5 more
doaj   +1 more source

Home - About - Disclaimer - Privacy