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Aim: The aim of this study is to assess associated cerebral supratentorial anomalies in patients who underwent myelomeningocele repair in hopes of developing a better morphological apprehension of the forebrain's anomalies in this category of patients.
Material And Methods: This retrospective observational study assessed 426 pediatric patients who underwent myelomeningocele repair between January 2013 and December 2020. Cranial MRIs with T1- and T2-weighted sequences were obtained as part of the postoperative assessment to determine the presence of associated supratentorial anomalies in pediatric patients following myelomeningocele repair.
Evaluation of gray-matter and white-matter microstructural abnormalities in children with growth hormone deficiency: a comprehensive assessment with synthetic magnetic resonance imaging.
Quant Imaging Med Surg
January 2025
Department of Radiology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Background: Pediatric growth hormone deficiency (GHD) is a disease resulting from the impaired growth hormone-insulin-like growth factor-1 (GH-IGF-1) axis, but the effects of GHD on children's behavior and brain microstructural structure alterations have not yet been fully clarified. We aimed to investigate the quantitative profiles of gray matter and white matter in pediatric GHD using synthetic magnetic resonance imaging (MRI).
Methods: The data of 50 children with GHD and 50 typically developing (TD) children were prospectively collected.
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Clin Genet
December 2024
Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.
View Article and Find Full Text PDFThe Prevalence of Septo-Optic Dysplasia in Neonates with Absent Cavum Septi Pellucidi Identified During Routine Prenatal Imaging.
Am J Perinatol
January 2025
Department of Pediatrics, Division of Neonatology, Oregon Health & Science University, Portland, United States.
Objective: To determine the prevalence of septo-optic-dysplasia (SOD) in patients with prenatally identified absent cavum septi pellucidi (CSP), agenesis of the corpus callosum (ACC) or dysgenesis of the corpus callosum (DCC).
Study Design: This retrospective chart review investigated neonates prenatally diagnosed with an absent CSP, ACC, or DCC who were admitted to a single quaternary academic medical center in the Pacific Northwest between 2016-2023. This prenatal diagnosis prompted a routine and protocolized postnatal workup for SOD including laboratory evaluation, imaging, and specialty consultation.
Thick and Short Fetal Corpus Callosum on Ultrasound: Added Value of Fetal Magnetic Resonance Diffusion Tensor Imaging With Tractography.
Pediatr Neurol
December 2024
Department of Radiology, Infocus Diagnostics, Ahmedabad, Gujarat, India.
Background: Thick fetal corpus callosum (CC) is a rare finding and its significance in isolation is not clear. In this retrospective study, we aim to gain insight into the microarchitecture of CC in a cohort of fetuses with thick and short CC (isolated or associated with mild extra-/intracranial abnormalities) as seen on ultrasound (US), by using prenatal magnetic resonance (MR) diffusion tensor imaging (DTI) with fiber tractography, thereby allowing better characterization for postnatal prognosis.
Methods: Twelve fetuses met the inclusion criteria on US.
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