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Attempts 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.
View Article and Find Full Text PDFDevelopment and longitudinal neurocognitive functioning in mucopolysaccharidosis type IIIC: a case study.
J Appl Genet
December 2024
Psychological Counselling for Rare Genetic Diseases, Institute of Psychology, Faculty of Social Science, University of Gdansk, Bażynskiego, 4, 80-309, Gdańsk, Poland.
This case study presents a comprehensive analysis of the neurocognitive, medical, and developmental functioning of a 9-year-old girl diagnosed with mucopolysaccharidosis type IIIC (MPS IIIC). Genetic testing revealed a homozygous pathogenic variant of the HGSNAT gene (c.1872C > A), typically associated with severe neurodegeneration.
View Article and Find Full Text PDFPediatric macular hole associated with vitreoretinal traction on epiretinal lesions - a case report and literature review.
Retin Cases Brief Rep
October 2024
Department of Ophthalmology, Mayo Clinic, Rochester, MN, 55901.
Purpose: We describe a case of non-traumatic macular hole in a pediatric patient associated with numerous epiretinal lesions throughout the macula.
Methods: A healthy 9-year-old girl presented to retina clinic with several months of blurry vision in the right eye. Clinically, there was a full-thickness macular hole with serous detachment and white epiretinal tufts.
Ofatumumab treatment in new-onset narcolepsy type 1 following SARS-CoV-2 infection.
Ann Clin Transl Neurol
December 2024
Department of Neurology, Xijing Hospital, Fourth Military Medical University, Xi'an, China.
Objectives: To explore the efficacy of ofatumumab in new onset narcolepsy type 1 following SARS-CoV-2 infection.
Methods: We present a 9-year-old girl who experienced new onset narcolepsy type 1 following SARS-CoV-2 infection. Polysomnography (PSG) followed by a daytime multiple sleep latency test (MSLT) was under taken after admission.
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