Results 71 to 80 of about 30,385 (257)

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

Surgical Management of Unilateral Partial Limbal Stem Cell Deficiency: Conjunctival Autografts versus Simple Limbal Epithelial Transplantation

Clinical Ophthalmology, 2021
Swapna S Shanbhag,1 Sanjay Chanda,1 Pragnya R Donthineni,1 Sayan Basu1– 3 1The Cornea Institute, L.V. Prasad Eye Institute, Hyderabad, Telangana, India; 2Center for Ocular Regeneration (CORE), L.V.
Shanbhag SS, Chanda S, Donthineni PR, Basu S   +3 more
doaj  

BLIND SERBIAN RULERS AND FAMOUS PERSONS

Sanamed, 2016
History and medicine were an integral part of life-being of blind serbian acters. One of the main actors was half-blind serbian ruler, Stefan of Decani and whose name was associated with first ophthalmologic hospital and precursor of the eye`s injuries ...
Janicijevic Katarina, Kocic Sanja, Radovanovic Snezana, Sarenac Vulovic Tatjana, Petrovic Nenad, Todorovic Dusan   +5 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Management Strategies of Ocular Chemical Burns: Current Perspectives

Clinical Ophthalmology, 2020
Mohammad Soleimani, Morteza Naderan Ocular Trauma and Emergency Department, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, IranCorrespondence: Mohammad Soleimani; Morteza NaderanOcular Trauma and Emergency Department, Farabi Eye ...
Soleimani M, Naderan M
doaj  

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

Treatment of chemical burns of the eye

Zdravniški Vestnik, 2005
Background: Chemical burn of the eye is one of true ophthalmology emergencies. Correct and on time treatment is vital in preservation of eye function.
Brigita Drnovšek-Olup, Eva Novinec
doaj  

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Public Awareness of Ocular Chemical Injuries: A Cross-Sectional Study in Lithuania

Clinics and Practice
Background: Ophthalmic emergencies are acute conditions that progress rapidly, posing a significant threat to a patient’s vision and requiring urgent intervention to prevent permanent visual impairment. This study aimed to assess the general awareness of
Justina Skruodyte, Martyna Sveikataite, Jurate Sveikatiene, Pranas Serpytis   +3 more
doaj   +1 more source

Mandible composition and properties in two selected praying mantises (Insecta, Mantodea)

The Anatomical Record, EarlyView.
Abstract Insects process their food with their cuticle‐based mouthparts. These feeding structures reflect their diversity and can, in some cases, showcase adaptations in material composition, mechanical properties, and shape to suit their specific dietary preferences.
Malo Roze, Stanislav N. Gorb, Timo Zeimet, Wencke Krings   +3 more
wiley   +1 more source