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Focal choroidal excavation (FCE)-related choroidal neovascular membrane (CNV) in a child.
Retin Cases Brief Rep
June 2024
Department of Ophthalmology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905.
Purpose: To report the rare clinical, optical coherence tomography (OCT), and OCT-angiography findings of a visually significant choroidal neovascular membrane (CNV) in the setting of focal choroidal excavation (FCE) in a child.
Methods: Case report and literature review.
Results: A 9-year-old girl with FCE-related central CNV based on clinical findings and multimodal imaging.
Insights into pituitary stalk interruption syndrome: 2 cases that illuminate the condition.
Radiol Case Rep
March 2025
Pediatric Radiology Department, Children's Hospital, University Mohammed V of Rabat, Rabat, Morocco.
Pituitary stalk interruption syndrome (PSIS) is a congenital anatomical defect that leads to pituitary insufficiency, The symptoms are diverse, often leading to diagnostic delays or even misdiagnosis. MRI plays a crucial role in establishing an accurate diagnosis by revealing a characteristic radiological triad: a thin or absent pituitary stalk, an ectopic or missing posterior pituitary gland, and anterior pituitary hypoplasia. We herein describe 2 cases: 1 involving a 9-year-old boy and the other an 11-year-old girl, both diagnosed with PSIS.
View Article and Find Full Text PDFPreoperative Computed Tomography Virtual Simulation for HeartMate 3 Implantation in Small Children.
Ann Thorac Surg Short Rep
September 2024
Department of Cardiovascular Surgery, Tokyo Women's Medical University, The Heart Institute of Japan, Tokyo, Japan.
An implantable ventricular assist device became smaller and has been used for small body size patients. However, it is still challenging to determine whether it is implantable for pediatric patients. The preoperative computed tomography virtual simulation provided spatial information among the pump, intracardiac structures, and extracardiac structures, which was very useful to assess the implantability for borderline children.
View Article and Find Full Text PDFAttempts to Create Transgenic Mice Carrying the Q3924E Mutation in RyR2 Ca Binding Site.
Cells
December 2024
Cardiac Signaling Center, University of South Carolina, Medical University of South Carolina and Clemson University, Charleston, SC 29425, USA.
Over 200 point mutations in the ryanodine receptor (RyR2) of the cardiac sarcoplasmic reticulum (SR) are known to be associated with cardiac arrhythmia. We have already reported on the calcium signaling phenotype of a point mutation in RyR2 Ca binding site Q3925E expressed in human stem-cell-derived cardiomyocytes (hiPSC-CMs) that was found to be lethal in a 9-year-old girl. CRISPR/Cas9-gene-edited mutant cardiomyocytes carrying the RyR2-Q3925E mutation exhibited a loss of calcium-induced calcium release (CICR) and caffeine-triggered calcium release but continued to beat arrhythmically without generating significant SR Ca release, consistent with a remodeling of the calcium signaling pathway.
View Article and Find Full Text PDFLife-Threatening Respiratory Complications in Two Young Children with Extreme Obesity.
Children (Basel)
December 2024
Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, University Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, 71-215 Szczecin, Poland.
Background/objectives: Obesity is a chronic disease characterized by pathological accumulation of adipose tissue. The exponentially increasing number of children with severe obesity draws attention to the tragic consequences of the lack of, or inadequate treatment of, obesity in this age group. This article aims to present ways of preventing obesity and ways of treating its complications in order to reduce the risk of the life-threatening problems caused by it.
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