Results 141 to 150 of about 502,916 (312)

Occult Fronto-Orbital Fracture Presenting as Traumatic Pseudomeningocele in a 4-Month-Old Infant: Successful Surgical Management in a Resource-Limited Setting

International Medical Case Reports Journal
Abdirasak Ali Abukar,1 Ahmed Adam Osman,2 Hamdi Mohamed Isse,2 Hassan Muhumed Mohamed,3 Cihan Çelik,2 Mohamed Osman Dahir,2 Ismail Gedi Ibrahim2 1Department of Neurosurgery, Mogadishu Somali Türkiye Training and Research Hospital, Mogadishu, Somalia ...
Abukar AA, Osman AA, Mohamed Isse H, Mohamed HM, Çelik C, Dahir MO, Ibrahim IG   +6 more
doaj  

A Gendered Analysis of Canadian Academic Ophthalmology Leaders

Objective To describe and analyze the gender distribution of Canadian academic ophthalmology leadership. Methods This study assessed the characteristics of ophthalmology department chairs, program directors, undergraduate directors, fellowship ...
Hardy, Isabelle, Nguyen, Anne Xuan-Lan, Wen, Ying, Lando, Leonardo, Tanya, Stuti M.   +4 more
core   +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

A Historical Review of Encircling Laser Retinopexy as a Prophylaxis for Rhegmatogenous Retinal Detachment; and a Commentary on Recent Progress in Stickler Syndrome

Clinical Ophthalmology
Robert E Morris,1– 3 Ferenc Kuhn,1,4 Matthew H Oltmanns,1– 3 Matthew R West,1– 3 Cary R Baxter,1– 3 Mathew R Sapp,1– 3 Harshvardhan Chawla1– 3 1Helen Keller Eye Research Foundation, Birmingham, AL, USA; 2Retina Specialists of Alabama, Birmingham, AL, USA;
Morris RE, Kuhn F, Oltmanns MH, West MR, Baxter CR, Sapp MR, Chawla H   +6 more
doaj  

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

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 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

What is Neuro-Ophthalmology?

, 2019
Summary: • Neuro-ophthalmology is the bridge between neurologic disorders and ophthalmologic disorders o Considers both afferent pathways and efferent pathways o Much of the CNS is dedicated to visual processing and coordination of eye movement • Neuro ...
Andrew G. Lee, MD; Michael Duan
core  

A Bibliometric Analysis of Social Perception and Academic Trends on Gender and Race in Ophthalmology

Background: Gender and race disparities in ophthalmology have gained increased attention in recent years due to their clinical and societal significance.
Nguyen, Helen N, Choudhry, Hassaam S, Kaleem, Mona A, Dossantos, Jason, Shukla, Aakriti G, Kumarapuram, Siddhant, Choudhry, Hannaan S, Elam, Angela   +7 more
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source