Results 41 to 50 of about 30,062 (169)

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

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

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

Framing anatomical variation in anatomy textbooks: Language use and its implications

Anatomical Sciences Education, EarlyView.
Text mining of anatomy textbooks shows “abnormal” is the most frequently used descriptor for anatomical variation, reinforcing a binary framing. We advocate for explicit teaching of variation as a spectrum, with consistent, neutral terminology and contextualization (prevalence and functional relevance) to support a more nuanced understanding of ...
An‐Di Yim, Matthew Schell, Alexandra Zachwieja   +2 more
wiley   +1 more source

Polar Value Analysis of Low to Moderate Astigmatism with Wavefront-Guided Sub-Bowman Keratomileusis

Journal of Ophthalmology, 2017
Purpose. To evaluate the astigmatic outcomes of wavefront-guided sub-Bowman keratomileusis (WFG-SBK) for low to moderate myopic astigmatism. Methods. This study enrolled 100 right eyes from 100 patients who underwent WFG-SBK for the correction of myopia ...
Pisong Yan, Zhiyu Du, Yu Zhang
doaj   +1 more source

Effect of astigmatism and spherical equivalent correction on contrast sensitivity [PDF]

International Journal of Ophthalmology
AIM: To investigate the effect of astigmatism and spherical equivalent (SE) correction on contrast sensitivity (CS). METHODS: In this cross-sectional study, 103 visually normal subjects aged 18 to 36y with bilateral regular astigmatism in range of 1.00 ...
Maryam Saffarizadeh, Saeed Rahmani, Alireza Akbarzadeh Baghban, Mohammad Ghassemi-Broumand   +3 more
doaj   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Astigmatism in candidates of Cataract surgery and its relationship with corneal optical power, axial length, sex and patient age [PDF]

Acta Medica Iranica, 2000
This study was conducted to define the prevalence and types of corneal astigmatism in relation with corneal optical power, axial length, sex and patient age. 641 cataract patients were included in a descriptive study.
Siatiri H
doaj  

Correlation Between Keratometric and Refractive Astigmatism in Pseudophakes

Clinical Ophthalmology, 2021
Shavini Athukorala,1 Neal Kansara,2 Erik Lehman,3 Seth M Pantanelli1 1Department of Ophthalmology, Penn State College of Medicine, Hershey, PA, USA; 2Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA; 3Department of Public Health ...
Athukorala S, Kansara N, Lehman E, Pantanelli SM   +3 more
doaj  

Supercritical Angle Fluorescence and Raman Techniques in Biophotonics

Laser &Photonics Reviews, EarlyView.
Supercritical angle fluorescence (SAF) microscopy and supercritical angle Raman (SAR) spectroscopy have emerged as powerful tools in the field of biophotonics, enabling high‐resolution imaging and spectroscopy of biological specimens near interfaces. This review article provides a comprehensive overview of the principles, techniques, applications, and ...
Subir Das, Nathalia Simea Münch, Stefan Seeger   +2 more
wiley   +1 more source