Results 181 to 190 of about 682,435 (246)

Expanding the Biochemical Phenotype of ReNU Syndrome: A Case Report

Clinical Genetics, EarlyView.
This report detailed the clinical findings and the biochemical phenotype of a 3‐year‐old girl with ReNU syndrome. Circulating biomarkers and a muscle biopsy s uggested mild mitochondrial abnormalities. Severe plasmalogen deficiency was also observed, comparable to defects of peroxisomal plasmalogen biosynthesis.
Irene De Biase, McKall Johnson, Qinwen Mao, Vanina L. Taliercio, Stacey L. Cole   +4 more
wiley   +1 more source

The Impact of Primary Care Provider Telemedicine Adoption on Pediatric Ophthalmology Referrals. [PDF]

Telemed J E Health
Mesfin Y, O'Brien KS, Indaram M, Keenan JD, Oatts JT.   +4 more
europepmc   +1 more source

An Overview of the Korean Intermittent Exotropia Multicenter Study by the Korean Association for Pediatric Ophthalmology and Strabismus. [PDF]

Korean J Ophthalmol, 2021
Kim DH, Baek SH, Choi HY, Choi DG, Lee DC, Lee SY, Lim HW, Lim HT, Ryu WY, Yang HK, Lim KH.   +10 more
europepmc   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Editorial: Insights in pediatric ophthalmology and strabismus: 2022. [PDF]

Front Ophthalmol (Lausanne)
Bremond-Gignac D.
europepmc   +1 more source

A systematic review of ultrasound biomicroscopy use in pediatric ophthalmology. [PDF]

Eye (Lond), 2021
Alexander JL, Wei L, Palmer J, Darras A, Levin MR, Berry JL, Ludeman E.   +6 more
europepmc   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

A Review of the Utility and Limitations of Artificial Intelligence in Retinal Disorders and Pediatric Ophthalmology. [PDF]

Cureus
Labib KM, Ghumman H, Jain S, Jarstad JS.
europepmc   +1 more source

Neonatal Assessment Visual European Grid accuracy in detecting infants born preterm at risk of neurological impairment

Developmental Medicine &Child Neurology, EarlyView.
NAVEG: a screening tool for detecting preterm newborn at risk of neurolocal impairment, key findings and diagnostic accuracy. Abstract Aim To analyse the factorial structure of the Neonatal Assessment Visual European Grid (NAVEG), its diagnostic accuracy, the discriminative capacity of its individual items, and total score in detecting infants born ...
Elisa Fazzi, Laura Malerba, Jessica Galli, Salvatore Aversa, Lotfi B. Merabet, Francesco Risso, Andrea Rossi, NAVEG Group, Patrizia Accorsi, Anna Alessandrini, Sabina Bettelli, Nicole D'adda, Erika Loi, Michela Gritti, Paola Martelli, Paola Mattei, Giuseppe Nascimbeni, Federica Tansini, Francesco Semeraro, Vania Spinoni, Serena Micheletti, Giulia Balboni   +21 more
wiley   +1 more source

Study of Visual Evoked Potentials in Schoolchildren: A Promising Aid to Pediatric Ophthalmology. [PDF]

Cureus
Kothari R, Srivastava S, Sheikh A, Gomashe A, Murkhe A, Nallathambi N, Vrindavanam S, A P.   +7 more
europepmc   +1 more source