Results 31 to 40 of about 5,933 (182)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Visual Evoked Potentials in the Detection and Monitoring of Optic Neuritis in Multiple Sclerosis

Proceedings
Introduction: Visual Evoked Potential (VEP) detects failures in nerve conduction along visual pathways [...]
Enzo K. M. Rodrigues, Luiz F. V. Carvalho, Renato P. Cúrcio, Thiago C. Oliveira, Carlos N. Aucélio   +4 more
doaj   +1 more source

An investigative study on the impact of smoking on visual evoked response of healthy volunteers

Journal of Clinical Ophthalmology and Research, 2018
Background: Cigarette smoking not only has numerous deleterious effects on respiratory and cardiovascular systems of the body but also poses a threat to damage the visual system and may lead to poor eyesight.
Ruchi Kothari, Vidit Panchal, Pradeep Bokariya   +2 more
doaj   +1 more source

Non-invasive visual evoked potentials under sevoflurane versus ketamine-xylazine in rats

Heliyon, 2021
Background: Visual Evoked Potential (VEP) quantifies electrical signals produced in visual cortex in response to visual stimuli. VEP elicited by light flashes is a useful biomarker to evaluate visual function in preclinical models and it can be recorded ...
Valerio Castoldi, Raffaele d’Isa, Silvia Marenna, Giancarlo Comi, Letizia Leocani   +4 more
doaj   +1 more source

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

Clinical utility and limitations of intraoperative monitoring of visual evoked potentials. [PDF]

PLoS ONE, 2015
During surgeries that put the visual pathway at risk of injury, continuous monitoring of the visual function is desirable. However, the intraoperative monitoring of the visual evoked potential (VEP) is not yet widely used.
Yeda Luo, Luca Regli, Oliver Bozinov, Johannes Sarnthein   +3 more
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Study of Effect of Chronic Use of Mobile Phones on Visual Evoked Potential in the Young-Adult Population

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Purpose: The current study was taken up to investigate the effects of chronic mobile phone use on visual system, both in terms of electromagnetic radiation (EMR) and screen-time exposure, with the use of visual evoked potential (VEP).
Karthik Kulkarni, K. S. Prashanth
doaj   +1 more source

Visual Evoked Potentials (VEPs) in Patients with Type 2 Diabetes Mellitus

Kathmandu University Medical Journal, 2022
Background Type 2 diabetes constitutes about 85-95% of all diabetes in developed countries, and accounts for an even higher percentage in developing countries. Diabetic retinopathy is probable the most characteristic, easily identifiable and treatable complication of diabetes, but remains an important cause of visual loss. Objective To study P100
P, Subedi, N, Limbu, R, Maskey, D D, Baral   +3 more
openaire   +2 more sources

A prospective natural history study protocol for clinical trial readiness in synaptic disorders

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee, Sarah M. Ruggiero, Kristin Cunningham, JoeyLynn Coyne, Ian McSalley, Michael C. Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M. Orlando, Viveknarayanan Padmanabhan, Alexander K. Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A. Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie McCarthy, Jan H. Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao‐Tuan Chao, Katherine Xiong, Elizabeth Berry‐Kravis, Sepideh Tabarestani, J. Michael Graglia, Kathryn Helde, Virginie McNamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J. Boland, Samuel R. Pierce, Ingo Helbig   +38 more
wiley   +1 more source