Results 61 to 70 of about 134,424 (302)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Habit Formation and Labor Supply [PDF]

This paper shows that the combination of habit formation - present consumption creating additional consumption needs in the future - and myopia may explain why some retirees are forced to ‘unretire’, i.e., unexpectedly return to work.
Darío Maldonado, Helmuth Cremer, Philippe De Donder, Pierre Pestieau   +3 more
core   +3 more sources

Myopia and emmetropisation [PDF]

Clinical and Experimental Optometry, 2017
As I sat reading the invitation to write this editorial, the ABC radio news was playing in the background and it was announced that Bob Dylan had just been awarded the 2016 Nobel Prize for literature. I remember a more progressive English teacher at high school in the 1970s basing her classes around Dylan’s song lyrics. She would be thrilled by Dylan’s
openaire   +3 more sources

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

On Myopia As Rationale for Social Security [PDF]

It has been argued that "paternalistically motivated forced savings constitutes an important, and to some the most important, rationale for social security retirement systems." This paper revisits the role played by myopia in generating a theoretical ...
Anderson, Torben M., Bhattacharya, Joydeep   +1 more
core   +3 more sources

Axial elongation among Hong Kong myopic children and adolescents wearing single vision spectacles from a clinical setting

Scientific Reports
This retrospective cohort study investigates axial elongation in myopic children and adolescents wearing single vision spectacles, before and after the availability of proven myopia control spectacles.
Kryshell Yu Qi Wong, Rachel Ka Man Chun, Andrew Kwok Cheung Lam   +2 more
doaj   +1 more source

Long-term myopia control effect and safety in children wearing DIMS spectacle lenses for 6 years

Scientific Reports, 2023
This study evaluated the long-term myopia control effect and safety in children wearing Defocus Incorporated Multiple Segments (DIMS) spectacle lenses.
Carly Siu Yin Lam, Wing Chun Tang, Han Yu Zhang, Paul H. Lee, Dennis Yan Yin Tse, Hua Qi, Natalia Vlasak, Chi Ho To   +7 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

A comparative study of extended depth of focus, bifocal intraocular lenses and their mix-and-match [PDF]

International Journal of Ophthalmology
AIM: To compare the visual performances of extended depth of focus (EDOF) lenses, diffractive bifocal intraocular lenses (IOLs) and their combination. METHODS: This was a prospective, consecutive observational comparative study performed from Dec 2020 to
Fan Fan, Xi-Yue Zhou, Jia-Ning Yang, Xin Liu, Yi Luo   +4 more
doaj   +1 more source

The 9+ month marathon: How pregnancy may have shaped human endurance capacities

The Anatomical Record, EarlyView.
Abstract Anthropology has long considered the evolution of our uniquely human endurance capacities to be the result of selection upon anatomical and physiological features imposed by the demands of thermoregulation and resource acquisition, particularly during the demands of persistence hunting. Research has focused on the anatomical changes present in
Cara Ocobock
wiley   +1 more source