Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.4045/tidsskr.17.0976 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.
Clin Genet
January 2025
Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Kleefstra syndrome (KLEFS) is a genetic neurodevelopmental disorder caused by haploinsufficiency of EHMT1. The full spectrum of clinical features and genotype-phenotype correlations is currently not fully understood. We performed a retrospective chart review of patients with KLEFS evaluated at the Boston Children's Hospital Kleefstra Clinic.
View Article and Find Full Text PDFAssessing the Risk of Kidney Stone Development in Patients With Idiopathic Intracranial Hypertension Treated With Carbonic Anhydrase Inhibitors.
J Neuroophthalmol
December 2024
College of Medicine (JM, AGL), Texas A&M University, Houston, Texas; Department of Ophthalmology (SAA, OAD, AGL), Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas; Department of Ophthalmology (SAA), The University of Jordan, Amman, Jordan; Department of Ophthalmology (OAD), Hashemite University, Amman, Jordan; Department of Ophthalmology (AL, AGL), Cullen Eye Institute, Baylor College of Medicine, Houston, Texas; Departments of Ophthalmology, Neurology, and Neurosurgery (AGL), Weill Cornell Medicine, New York, New York; Department of Ophthalmology (AGL), University of Texas MD Anderson Cancer Center, Houston, Texas; and Department of Ophthalmology (AGL), The University of Iowa Hospitals and Clinics, Iowa City, Iowa.
Background: The prevalence of idiopathic intracranial hypertension (IIH) is rising with the global obesity epidemic. Carbonic anhydrase inhibitors (CAIs), such as acetazolamide, have been shown to be effective in IIH but can also lead to kidney stone formation. This study evaluates the risk of kidney stone development in patients with IIH treated with CAIs.
View Article and Find Full Text PDFDeep Learning-Based Visual Complexity Analysis of Electroencephalography Time-Frequency Images: Can It Localize the Epileptogenic Zone in the Brain?
Algorithms
December 2023
Fetal-Neonatal Neuroimaging and Developmental Science Center, Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Article Synopsis
- In drug-resistant epilepsy, the study focuses on using deep learning to analyze intracranial electroencephalography (iEEG) signals, specifically through time-frequency (TF) images, to locate the epileptogenic zone (EZ) for surgical guidance.
- The researchers processed iEEG data from 20 children and employed a pre-trained neural network (VGG16) to measure visual complexity, revealing that contacts within the seizure onset zone had significantly lower activation energy compared to those outside.
- The findings suggest a new computer-assisted method for accurately localizing the EZ with a 7 mm accuracy in MRI scans, potentially reducing the need for extensive manual iEEG examinations.
Symptoms, Quality of Life, and Executive Function in Children Who Snore.
JAMA Otolaryngol Head Neck Surg
December 2024
Department of Otolaryngology, Children's Hospital of The King's Daughters, Norfolk, Virginia.
Introduction: Mild sleep-disordered breathing (mSDB) in children is associated with both neurobehavioral morbidity and reduced quality of life (QOL). However, the association between symptom burden and QOL with executive function is not well understood, and it is not known whether QOL and symptom burden may help identify children with neurocognitive dysfunction.
Objective: To assess associations among executive function, QOL, and symptom burden in children with mSDB.
Phase 1b Dose Escalation Study of Sozinibercept Inhibition of Vascular Endothelial Growth Factors C and D With Aflibercept for Diabetic Macular Edema.
Transl Vis Sci Technol
December 2024
Opthea Limited, Melbourne, Victoria, Australia.
Purpose: Sozinibercept inhibits vascular endothelial growth factors (VEGFs) C and D. This study evaluated outcomes following switching from anti-VEGF-A monotherapy to intravitreal injections of three dose levels of sozinibercept in combination with aflibercept in patients with diabetic macular edema (DME).
Methods: A phase 1b, open-label, multicenter dose-escalation study with a 24-week follow-up.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!