Results 101 to 110 of about 51,591 (290)

Reticular Bullous Epithelial Corneal Edema after Netarsudil Use for Elevated Intraocular Pressure with Concurrent Fuchs Endothelial Corneal Dystrophy: A Case Report

Case Reports in Ophthalmology
Introduction: We describe a case of reticular bullous corneal epithelial edema associated with the use of netarsudil ophthalmic solution (0.02%) for elevated intraocular pressure. Case Presentation: A 74-year-old man with a complex ocular medical history,
Kathryn S. Park, Alexander C. Lieu, Michael J. Ang, Natalie A. Afshari   +3 more
doaj   +1 more source

Three Generation Family With Pattern Dystrophy and a Successful Treatment of Subfoveal Cnv Related to Pattern Dystrophy With Anti-vegf Intravitreal Injections

, 2010
Purpose: To phenotype a large 3 generation Swiss family with pattern dystrophy and to report a successful result of treatment with ranibizumab of a subfoveal choroidal neovascularisation (CNV) associated with pattern dystrophy in 1 patient Patients and ...
Munier, F.L., Vaclavik, V.
core  

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Complex interaction of sensory and motor signs and symptoms in chronic CRPS. [PDF]

, 2011
Spontaneous pain, hyperalgesia as well as sensory abnormalities, autonomic, trophic, and motor disturbances are key features of Complex Regional Pain Syndrome (CRPS).
Lauchart, Meike, Magerl, Walter, Antje Beyer, Kaufhold, Wibke, Schelling, Gustav, Volker Huge, Meike Lauchart, Beyer, Antje, Shahnaz Christina Azad, Gustav Schelling, Huge, Volker, Patrick Moehnle, Möhnle, Patrick, Azad, Shahnaz Christina, Wibke Kaufhold, Walter Magerl   +15 more
core   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Choroidal neovascularization associated with butterfly-shaped pattern dystrophy - a case report. [PDF]

Rom J Ophthalmol, 2023
Świerczyńska M, Danikiewicz-Zagała M, Sedlak L, Nowak-Wąs M, Wyględowska-Promieńska D.   +4 more
europepmc   +1 more source

El sistema hipocretina / orexina en la fisiopatología de las hipersomnias de origen central [PDF]

, 2007
[spa] INTRODUCCIÓN. El sistema hipocretina/orexina es un sistema neurotransmisor hipotalámico con funciones promotoras de la vigilia. La narcolepsia, enfermedad caracterizada por una excesiva somnolencia diurna y manifestaciones anormales del sueño REM ...
Martínez Rodríguez, José Enrique
core  

Dark Choroid in Cone-Rod Dystrophy

, 1992
An unusual pattern of dark choroid in an eight-year-old girl is described. The ophthalmoscopic, fluorescein angiographic and functional changes were indicative of progressive cone-rod dystrophy.
W. Van De Sompel, A. Leys
core   +1 more source

Nonviral Gold Nanoparticle‐Mediated Delivery of CRISPR‐Cas9 Ribonucleoprotein and Long DNA Transgenes Into Primary Blood Cells

Advanced NanoBiomed Research, EarlyView.
CRISPR/Cas9 has revolutionized the field of gene therapy, but delivery remains an outstanding issue. We propose a nonviral gold‐nanoparticle platform for co‐delivery of CRISPR/Cas9 ribonucleoprotein and long 2.1 kilobase dsDNA transgene constructs. This CRISPR‐AuNP is inexpensive to produce and mediate gene editing and DNA delivery in T cells and CD34+
Rachel A. Cunningham, Karthikeya S. V. Gottimukkala, Daniel D. Lane, Katrina Poljakov, Patricia Lipson, Mark R. Enstrom, Alessandro Rizzi, Aude G. Chapuis, Jennifer E. Adair   +8 more
wiley   +1 more source