A5075204542- Epilepsy research and treatment
- Neonatal Health and Biochemistry
- Neurological and metabolic disorders
- Genetics and Neurodevelopmental Disorders
- Heme Oxygenase-1 and Carbon Monoxide
- Neurogenetic and Muscular Disorders Research
- Traumatic Brain Injury Research
- Child Nutrition and Feeding Issues
- Pharmacological Effects and Toxicity Studies
- Health Literacy and Information Accessibility
- Metabolism and Genetic Disorders
- Congenital heart defects research
- Genomics and Rare Diseases
- Methemoglobinemia and Tumor Lysis Syndrome
- Congenital Heart Disease Studies
- Trauma and Emergency Care Studies
- Cellular transport and secretion
- Genomic variations and chromosomal abnormalities
- Bacterial Infections and Vaccines
- Social Media in Health Education
- Neurological diseases and metabolism
- Vagus Nerve Stimulation Research
- Telemedicine and Telehealth Implementation
- Meta-analysis and systematic reviews
- Pancreatic function and diabetes
Children's Mercy Hospital
2016-2025
Mercy Hospital
2019-2024
Mercy Research
2024
University of Missouri–Kansas City
2013-2023
Pacific Biosciences (United States)
2021
University of Kansas
2014-2020
PurposeThis study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program.MethodsExtensive of 960 families with suspected genetic disorders included short-read exome sequencing genome (srGS); PacBio HiFi long-read (HiFi-GS); variant calling single nucleotide variants (SNV), structural (SV), repeat variants; machine-learning prioritization. Structured phenotypes, prioritized variants, pedigrees were...
Abstract: Acute bilirubin encephalopathy (ABE) remains a significant cause of morbidity and mortality throughout the world, especially in low-middle-income countries where it can account for up to 15% neonatal death. The pathophysiology this acute life-threatening event infancy its potential evolution kernicterus remain poorly understood. In review, we start by reviewing terminology hyperbilirubinemia clinical consequences, ABE later spectrum disorder (KSD). We then review pathogenesis...
ABSTRACT Introduction Tacrolimus is a potent immunosuppressive agent effective in preventing solid organ transplant rejection. It widely used following allogeneic liver, kidney, heart, and bone marrow transplantation. Tacrolimus‐related neurotoxicity, which can present up to one‐third of patients, manifests with broad clinical spectrum. Neuroradiological features are classically reported as bilateral symmetrical lesions involving the parietal occipital lobes, similar posterior reversible...
Access to paediatric neurology care is complex, resulting in significant wait times and negative patient outcomes. The goal of the American Academy Pediatrics National Coordinating Center for Epilepsy's project, Improvement Management Epilepsy with Telehealth (AIM-ET), was identify access management challenges deployment telehealth technology. AIM-ET organised four teams partner primary-care providers (PCP) their multidisciplinary teams. visits were conducted epilepsy patients. A post-visit...
ObjectiveLennox-Gastaut syndrome (LGS) is a severe drug-resistant epilepsy (DRE) of childhood. The Vagus Nerve Stimulator (VNS) established as safe and effective treatment for DRE. This study assesses efficacy tolerability the auto-stimulation VNS models in pediatric patients with LGS.MethodsThis retrospective chart review cohort (Age 1–18 years old) LGS implanted an model at single level four center. Patient responder's rate was measured seizure reduction over baseline improvements five...
Abstract Objective Patients with drug‐resistant epilepsy (DRE) pose considerable management challenges for patients, their families, and providers. Both the vagus nerve stimulator (VNS) ketogenic diet (KD) have been shown to be safe effective in treating DRE. Nevertheless, information is lacking regarding treatment combination of both modalities. This study reports efficacy tolerability combining VNS KD a pediatric cohort intractable epilepsy. Methods retrospective review 33 patients (0‐17...
Abstract PPFIA3 encodes the Protein-Tyrosine Phosphatase, Receptor-Type, F Polypeptide-Interacting Protein Alpha-3 (PPFIA3), which is a member of LAR protein-tyrosine phosphatase-interacting protein (liprin) family involved in synaptic vesicle transport and presynaptic active zone assembly. The structure function are well conserved both invertebrates vertebrates, but human diseases related to dysfunction not yet known. Here, we report 14 individuals with rare mono-allelic variants presenting...
One major advantage of developing large, federally funded networks for clinical research in neurology is the ability to have a trial-ready network that can efficiently conduct scientifically rigorous projects improve health people with neurologic disorders.
The concept of Epilepsy Treatment Gap (ETG) refers to the proportion people with epilepsy who are not being appropriately treated. ETG in USA approaches 10%, historically underserved populations and rural disproportionately affected. Low-and Middle-Income Countries (LMIC) is reported be 5-10 times higher than high-income countries. growing availability reliable internet access offers a unique opportunity provide better care children adults epilepsy. In this paper we explore various...
<sec> <title>BACKGROUND</title> Effectively managing epilepsy in children necessitates the active engagement of parents, a factor that is reliant on their understanding this neurological disorder. </sec> <title>OBJECTIVE</title> This study analyzes traffic to paired educational videos English and Spanish versions same content. By examining usage patterns preferences individuals seeking information different languages, we gained valuable insights into how language influences utilization...
Abstract Background Effectively managing epilepsy in children necessitates the active engagement of parents, a factor that is reliant on their understanding this neurological disorder. Widely available, high-quality, patient-focused, bilingual videos describing topics important for are limited. YouTube Analytics helpful resource gaining insights into how users differing backgrounds consume video content. Objective This study analyzes traffic to paired educational English and Spanish versions...
Abstract Neurology patients often have disorders that require life-long care and ongoing treatment. The transition of pediatric neurology to adult care, particularly in epilepsy, is an evolving concept recognized as important for families. Children's Mercy Hospital, Kansas City has established program been integrated into the clinic a part standard care. Our experience utilization provided our with unique opportunity, empowering them navigate their own create seamless neurology. Through...
<h3>Background</h3> According to the WHO, 50% of medication errors (ME) occur on admission or discharge from hospital. At his arrival in emergency department, patient does not provide much information treatment. Medication reconciliation (MR) can solutions this issue. <h3>Purpose</h3> To estimate severity potential consequences ME detected by MR an department and follow correction rate for ME. <h3>Material methods</h3> A prospective observational study was conducted. Retroactive performed 8...