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Tracking changes in autonomic function by coupled analysis of wavelet-based dispersion of heart rate variability and gastrointestinal symptom severity in individuals with hypermobile Ehlers-Danlos syndrome.
Front Neurol
January 2025
ARID Laboratory, Department of Pediatrics, College of Medicine, University of Arizona, Tucson, AZ, United States.
Introduction: People with hypermobile Ehlers-Danlos syndrome (hEDS) experience multisystemic dysfunction with varying severity and unpredictability of flare occurrence. Cohort studies suggest that individuals with hEDS have a higher risk for autonomic dysfunction. The gold standard for assessing autonomic function, clinically, is the heart rate variability (HRV) assessment from 24-h Holter monitor electrocardiogram data, but this is expensive and can only be performed in short durations.
View Article and Find Full Text PDFNeuropsychiatric profile in tuberous sclerosis complex patients with epilepsy.
Front Pediatr
January 2025
Division of Pediatric Neurology, Sidra Medicine, Doha, Qatar.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by mutations in the or genes, leading to dysregulation of the mTOR pathway and multisystemic manifestations. Epilepsy is a common neurologic feature of TSC, frequently accompanied by neuropsychiatric comorbidities. Understanding the relationship between epilepsy severity, TSC-associated neuropsychiatric disorders (TAND), and cognitive outcomes is crucial for optimizing patient care.
View Article and Find Full Text PDFAdult phenotypes of genetic developmental and epileptic encephalopathies.
Brain Commun
January 2025
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Developmental and epileptic encephalopathies constitute a group of severe epilepsies, with seizure onset typically occurring in infancy or childhood, and diverse clinical manifestations, including neurodevelopmental deficits and multimorbidities. Many have genetic aetiologies, identified in up to 50% of individuals. Whilst classically considered paediatric disorders, most are compatible with survival into adulthood, but their adult phenotypes remain inadequately understood.
View Article and Find Full Text PDFSimpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFDifferentiating Kawasaki Disease and Multisystem Inflammatory Syndrome in Children Using Blood Composite Scores: Insights into Clinical Outcomes and Predictive Indices.
Pediatr Cardiol
January 2025
Department of Pediatric Rheumatology, Ümraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
The study sought to assess the clinical utility of complete blood count-derived composite scores, suggesting their potential as markers of inflammation and disease severity in Kawasaki disease (KD) and multisystem inflammatory syndrome in children (MIS-C) with Kawasaki-like features. This retrospective study analyzed data from 71 KD and 73 MIS-C patients and 70 healthy controls. The KD group showed a higher rate of coronary involvement (26.
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