Results 51 to 60 of about 524,713 (207)

Endoilluminator-assisted pediatric cataract surgery with hazy cornea

Indian Journal of Ophthalmology, 2018
The purpose of this study was to demonstrate the usefulness of endoilluminator in pediatric cataract with hazy corneas. We describe a series of three cases of pediatric cataract where visualization of intraocular structures was inadequate under the ...
Jyoti Himanshu Matalia, Vimal Krishna Rajput, Himanshu Matalia, Bhujang K Shetty   +3 more
doaj   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Siblings With Duchenne Muscular Dystrophy: Exploring Diagnosis Age and Disease Progression in a Genetic Therapy‐Naïve Cohort

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Duchenne muscular dystrophy (DMD) is the most common pediatric muscular dystrophy. Typically, there is a ~ 2‐year delay between symptom onset and diagnosis. Limited data on outcomes in early‐diagnosed individuals have limited the understanding of the clinical impact of early diagnosis.
Vaishnavi Brahmamdam, Cuixia Tian, Niki Armstrong, Valentina Pilipenko, Lisa J. Martin, Alexander Zygmunt, Irina Rybalsky, Lisa Reebals, Chinmayee B. Nagaraj   +8 more
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Resource management and clinical outcomes during a national intravenous fluid shortage

Journal of Hospital Medicine, EarlyView.
Abstract Background A natural disaster, Hurricane Helene, damaged a production facility supplying 60% of intravenous (IV) fluids in the United States. A nationwide IV fluid shortage followed. Objectives To evaluate a multifaceted IV fluid conservation intervention's effect on IV fluid utilization and clinical outcomes during the shortage.
Stacy A. Johnson, Erin R. Fox, Smitha Warrier, Russell Vinik   +3 more
wiley   +1 more source

Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice

JPGN Reports, EarlyView.
Abstract Cerebrotendinous xanthomatosis (CTX) is a treatable genetic disorder associated with deficiency of the sterol 27‐hydroxylase enzyme (CYP27A1), important in bile acid synthesis. CTX may present in the newborn period as hepatic jaundice/cholestasis, that can resolve or can progress to fatal liver disease.
Andrea E. DeBarber, Maya Fowler, P. Barton Duell, Eric Dybbro   +3 more
wiley   +1 more source

Long-term economc burden and related influencing factors of pediatric cataracst: A population-based study in South Korea.

PLoS ONE
Pediatric cataracts are a significant cause of childhood blindness, requiring long-term management. This study evaluated the economic burden of pediatric cataract surgery in South Korea and identified factors influencing the medical costs, particularly ...
Semin Jang, Sang Jun Park, Seo Yoon Choi, Migyeong Jeong, Siin Kim, Hae Sun Suh   +5 more
doaj   +1 more source

Orbital Lymphatic Malformations Are Associated With Intracranial Vascular Anomalies

The Laryngoscope, EarlyView.
In this retrospective series, all seven patients with orbital lymphatic malformations had intracranial vascular anomalies consistent with cerebrofacial venous metameric syndrome and hotspot PIK3CA variants identified through tissue‐based sequencing. Five patients treated with alpelisib experienced symptom improvement within 6 months.
Kelsey A. Loy, Jennifer Siu, Clare Richardson, J. Nathaniel Perkins, Kaitlyn Zenner, Kevin Koo, Francisco Perez, James Bennett, Randall Bly, Danial K. Hallam, Amy Geddis, Jonathan A. Perkins   +11 more
wiley   +1 more source

Capsulotomy With Supine Nd:YAG Laser in Children

Lasers in Surgery and Medicine, EarlyView.
ABSTRACT Objectives To evaluate the visual outcomes of Nd:YAG laser posterior capsulotomy performed in the supine position under general anesthesia in children with visual axis opacification after cataract surgery. Materials and Methods A retrospective clinical case series of 13 eyes of 9 children with visual axis opacification following congenital ...
Nike Klun, Manca Tekavčič Pompe
wiley   +1 more source