Results 51 to 60 of about 682,435 (246)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Artificial intelligence applications in pediatric ophthalmology: A comprehensive review

Journal of Clinical Ophthalmology and Research
Pediatric ophthalmology presents unique challenges due to the ongoing development of children’s eyes and their limited ability to articulate symptoms, complicating diagnosis and treatment. The global shortage of pediatric ophthalmologists underscores the
Anupama Janardhanan, Meenakshi Ravindran, Allapitchai Fathima, Neelam Pawar   +3 more
doaj   +1 more source

Self-Reported Findings of the Korean Intermittent Exotropia Multicenter Study Questionnaire [PDF]

Purpose: To determine subjective symptoms and medical history of patients with intermittent exotropia in a large study population. Methods: The Korean Intermittent Exotropia Multicenter Study (KIEMS) is a nationwide, observational, cross-sectional ...
Gye, HJ, Yang, HK, Lee, HJ, Park, SH, Lim, KH, the Korean Association of Pediatric Ophthalmology and Strabismus (KAPOS), Kim, SY, Shin, SY   +7 more
core   +1 more source

Rabb–Venable Excellence in Ophthalmology Research Program: Contributions to Ophthalmology Workforce Diversity

, 2021
The 2016 Health Resources and Services Administration, Health Workforce Analysis estimated that ophthalmology is the surgical specialty with the greatest physician shortage.
Croteau-Chonka, Clarisse C., Padovani-Claudio, Dolly Ann, Olivier, Mildred M.G., Knight, O\u27Rese J., Miller-Ellis, Eydie G.   +4 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Monitoring and Treatment of Juvenile Idiopathic Arthritis-associated Uveitis: Brazilian Evidence-based Practice Guidelines

, 2021
Purpose: To present a national guideline for ophthalmologic care and surveillance of juvenile idiopathic arthritis-associated uveitis (JIA-uveitis).Methods: Review article based on medical literature and the experience of an Expert Committee composed of ...
Aikawa, N., Haefeli, L. M., Neves, L. M., Magalhães, C. S. [UNESP], Terreri, M. T., Hopker, L. M., Sztajnbok, F., Hilario, M. O., Ejzenbaum, F., Moraes do Nascimento, H., Silva, C. A.A., Rossetto, J. D., LM Haefeli, F Ejzenbaum, CAA Silva, LM Hopker, CS Magalhães, LM Neves, MT Terreri, MO Hilario, JD Rossetto, Magalhães, C. S., H Moraes do Nascimento, F Sztajnbok, N Aikawa   +24 more
core   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Artificial Intelligence and Ophthalmology

, 2020
Artificial intelligence is advancing rapidly and making its way into all areas of our lives. This review discusses developments and potential practices regarding the use of artificial intelligence in the field of ophthalmology, and the related topic of ...
Kadircan Keskinbora, Fatih Güven, Guven, Fatih, Keskinbora, Kadircan H., Keskinbora, Kadircan, Keskinbora K, Güven F.   +6 more
core   +1 more source

The Impact of Away Rotations on the Ophthalmology Residency Match

, 2021
Background The ophthalmology residency match is highly competitive, and fourth-year medical students frequently complete away rotations at other institutions hoping to increase their chances of matching.
Yung, Chi Wah, Boente, Charline S., Young, Jason, Tso, Hanna L., Jason Young, Charline S. Boente, Hanna L. Tso, Chi Wah Yung   +7 more
core   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source