Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker +9 more
wiley +1 more source
Dyspnoea at Term in an Obese Mother
Peripartum cardiomyopathy is a serious, potentially life-threatening heart disease of uncertain aetiology in previously healthy women. We report a morbidly obese woman who presented with peripartum shortness of breath.
Vicky O'Dwyer +3 more
doaj +1 more source
Chemiluminescence Microscopy as a Tool in Biomedical Research
Chemiluminescence has become a standard tool in biomedical research. Chemiluminescent probes are used for immunoassays, nucleic acid identification, reporter gene assays, measuring enzyme activity, and the detection of ions and small molecules such as ...
Robbert Créton, Lionel F. Jaffe
doaj +1 more source
Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source
Comparative effectiveness of drugs used to constrict the patent ductus arteriosus: a secondary analysis of the PDA-TOLERATE trial (NCT01958320). [PDF]
ObjectiveTo evaluate the effectiveness of drugs used to constrict patent ductus arteriosus (PDA) in newborns < 28 weeks.MethodsWe performed a secondary analysis of the multi-center PDA-TOLERATE trial (NCT01958320).
Aucott, Susan W +25 more
core +1 more source
Maternal fucosyltransferase 2 status affects the gut bifidobacterial communities of breastfed infants. [PDF]
BackgroundIndividuals with inactive alleles of the fucosyltransferase 2 gene (FUT2; termed the 'secretor' gene) are common in many populations. Some members of the genus Bifidobacterium, common infant gut commensals, are known to consume 2'-fucosylated ...
German, J Bruce +11 more
core +1 more source
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Epigenetic modification of the oxytocin receptor gene is associated with emotion processing in the infant brain [PDF]
The neural capacity to discriminate between emotions emerges early in development, though little is known about specific factors that contribute to variability in this vital skill during infancy.
Connelly, J. +4 more
core +2 more sources
Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion
Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana +8 more
wiley +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source

