Open Access. Powered by Scholars. Published by Universities.®
- Discipline
-
- Medical Specialties (11)
- Pediatrics (9)
- Neurology (6)
- Medical Sciences (4)
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities (2)
-
- Endocrine System Diseases (2)
- Endocrinology, Diabetes, and Metabolism (2)
- Medical Genetics (2)
- Medical Nutrition (2)
- Nursing (2)
- Pediatric Nursing (2)
- Bioethics and Medical Ethics (1)
- Cardiovascular Diseases (1)
- Dietetics and Clinical Nutrition (1)
- Education (1)
- Emergency Medicine (1)
- Health Services Research (1)
- Health and Medical Administration (1)
- Higher Education and Teaching (1)
- Infectious Disease (1)
- Medical Education (1)
- Musculoskeletal Diseases (1)
- Neoplasms (1)
- Oncology (1)
- Pathology (1)
- Psychiatry (1)
- Public Health (1)
- Keyword
-
- Female (3)
- Humans (3)
- Male (3)
- Children (2)
- Diet, Ketogenic (2)
-
- Hospitalization (2)
- Hospitals, Pediatric (2)
- Infant (2)
- Seizures (2)
- Teenagers (2)
- 3-Hydroxybutyric Acid (1)
- Adolescent (1)
- Age Factors (1)
- Aged (1)
- Blood Pressure (1)
- Case-Control Studies (1)
- Central Nervous System Viral Diseases (1)
- Child (1)
- Child, Preschool (1)
- Clinical Trial Protocols as Topic (1)
- DNA (1)
- Diabetes Mellitus, Type 2 (1)
- Diet therapies (1)
- Disease Outbreaks (1)
- Drug Resistant Epilepsy (1)
- Dystonia (1)
- Electroencephalography (1)
- Emergency Service, Hospital (1)
- Enterovirus D, Human (1)
- Epilepsy (1)
- Publication Type
Articles 1 - 12 of 12
Full-Text Articles in Nervous System Diseases
Phenotypic Characterization Of Jarid2-Related Intellectual Disability: A Case Series, Maxime Cadieux-Dion
Phenotypic Characterization Of Jarid2-Related Intellectual Disability: A Case Series, Maxime Cadieux-Dion
Research Days
Background: In recent years, wide implementation of research and clinical next generation sequencing has led to an astonishing number of novel disease-gene assertions. Recently, loss of function variants in JARID2 were reported in 16 patients with a clinically distinct neurodevelopmental phenotype that consisted of neurodevelopmental delay, intellectual disability (ID), learning disability, autism and behavioral abnormalities. Dysmorphic features were seen in most patients and included high anterior hairline, deep-set eyes, full lips, broad forehead, bulbous nasal tip, or depressed nasal bridge. Cleft lip/palate was observed in only 1/16 patients. Most cases were de novo, with only one inherited case from an …
Failure To Thrive - An Overlooked Manifestation Of Kmt2b-Related Dystonia: A Case Presentation., Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose N. Gelineau-Morel, Shimul Chowdhury, Rady Children’S Institute For Genomic Medicine Investigators, Jennifer Friedman
Failure To Thrive - An Overlooked Manifestation Of Kmt2b-Related Dystonia: A Case Presentation., Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose N. Gelineau-Morel, Shimul Chowdhury, Rady Children’S Institute For Genomic Medicine Investigators, Jennifer Friedman
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene.
CASE PRESENTATION: We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the …
A Ten-Year Retrospective Evaluation Of Acute Flaccid Myelitis At 5 Pediatric Centers In The United States, 2005-2014., Margaret M. Cortese, Anita K. Kambhampati, Jennifer E. Schuster, Zaid Alhinai, Gary R. Nelson, Gloria J. Guzman Perez-Carrillo, Arastoo Vossough, Michael A. Smit, Robert C. Mckinstry, Timothy Zinkus, Kevin R. Moore, Jeffrey M. Rogg, Meghan S. Candee, James J. Sejvar, Sarah E. Hopkins
A Ten-Year Retrospective Evaluation Of Acute Flaccid Myelitis At 5 Pediatric Centers In The United States, 2005-2014., Margaret M. Cortese, Anita K. Kambhampati, Jennifer E. Schuster, Zaid Alhinai, Gary R. Nelson, Gloria J. Guzman Perez-Carrillo, Arastoo Vossough, Michael A. Smit, Robert C. Mckinstry, Timothy Zinkus, Kevin R. Moore, Jeffrey M. Rogg, Meghan S. Candee, James J. Sejvar, Sarah E. Hopkins
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: Acute flaccid myelitis (AFM) is a severe illness similar to paralytic poliomyelitis. It is unclear how frequently AFM occurred in U.S. children after poliovirus elimination. In 2014, an AFM cluster was identified in Colorado, prompting passive US surveillance that yielded 120 AFM cases of unconfirmed etiology. Subsequently, increased reports were received in 2016 and 2018. To help inform investigations on causality of the recent AFM outbreaks, our objective was to determine how frequently AFM had occurred before 2014, and if 2014 cases had different characteristics.
METHODS: We conducted a retrospective study covering 2005-2014 at 5 pediatric centers in 3 …
Rna Sequencing Of Human Peripheral Nerve In Response To Injury: Distinctive Analysis Of The Nerve Repair Pathways., Andrew S. Welleford, Jorge E. Quintero, Nader El Seblani, Eric Blalock, Sumedha Gunewardena, Steven M. Shapiro, Sean M. Riordan, Peter Huettl, Zain Guduru, John A. Stanford, Craig G. Van Horne, Greg A. Gerhardt
Rna Sequencing Of Human Peripheral Nerve In Response To Injury: Distinctive Analysis Of The Nerve Repair Pathways., Andrew S. Welleford, Jorge E. Quintero, Nader El Seblani, Eric Blalock, Sumedha Gunewardena, Steven M. Shapiro, Sean M. Riordan, Peter Huettl, Zain Guduru, John A. Stanford, Craig G. Van Horne, Greg A. Gerhardt
Manuscripts, Articles, Book Chapters and Other Papers
The development of regenerative therapies for central nervous system diseases can likely benefit from an understanding of the peripheral nervous system repair process, particularly in identifying potential gene pathways involved in human nerve repair. This study employed RNA sequencing (RNA-seq) technology to analyze the whole transcriptome profile of the human peripheral nerve in response to an injury. The distal sural nerve was exposed, completely transected, and a 1 to 2 cm section of nerve fascicles was collected for RNA-seq from six participants with Parkinson's disease, ranging in age between 53 and 70 yr. Two weeks after the initial injury, another …
Recommendations For The Design Of Therapeutic Trials For Neonatal Seizures., Janet S. Soul, Ronit Pressler, Marilee Allen, Geraldine Boylan, Heike Rabe, Ron Portman, Pollyanna Hardy, Sarah Zohar, Klaus Romero, Brian Tseng, Varsha Bhatt-Mehta, Cecil Hahn, Scott Denne, Stephane Auvin, Alexander Vinks, John Lantos, Neil Marlow, Jonathan M. Davis, International Neonatal Consortium
Recommendations For The Design Of Therapeutic Trials For Neonatal Seizures., Janet S. Soul, Ronit Pressler, Marilee Allen, Geraldine Boylan, Heike Rabe, Ron Portman, Pollyanna Hardy, Sarah Zohar, Klaus Romero, Brian Tseng, Varsha Bhatt-Mehta, Cecil Hahn, Scott Denne, Stephane Auvin, Alexander Vinks, John Lantos, Neil Marlow, Jonathan M. Davis, International Neonatal Consortium
Manuscripts, Articles, Book Chapters and Other Papers
Although seizures have a higher incidence in neonates than any other age group and are associated with significant mortality and neurodevelopmental disability, treatment is largely guided by physician preference and tradition, due to a lack of data from well-designed clinical trials. There is increasing interest in conducting trials of novel drugs to treat neonatal seizures, but the unique characteristics of this disorder and patient population require special consideration with regard to trial design. The Critical Path Institute formed a global working group of experts and key stakeholders from academia, the pharmaceutical industry, regulatory agencies, neonatal nurse associations, and patient advocacy …
Neuroblastoma In Adolescents And Children Older Than 10 Years: Unusual Clinicopathologic And Biologic Features, Laura Mccarthy, Katherine Chastain, Terrie Flatt, Eugenio Taboada, Robert E. Garola, John Herriges, Linda D. Cooley, Atif Ahmed
Neuroblastoma In Adolescents And Children Older Than 10 Years: Unusual Clinicopathologic And Biologic Features, Laura Mccarthy, Katherine Chastain, Terrie Flatt, Eugenio Taboada, Robert E. Garola, John Herriges, Linda D. Cooley, Atif Ahmed
Posters
This poster describes four cases of neuroblastoma diagnosed since 2008 in children greater than 10 years and presents their clinical, histologic and biologic features, emphasizing unusual clinicopathologic characteristics and the role of DNA microarray analysis and Next Generation Sequencing in their management.
Early Identification Of Depression In Patients With Pediatric Epilepsy, Erin Fecske, Paul Glasier, Lines Vargas Collado, Elizabeth Rende
Early Identification Of Depression In Patients With Pediatric Epilepsy, Erin Fecske, Paul Glasier, Lines Vargas Collado, Elizabeth Rende
Posters
Describes the use of the Neurological Disorders Depression Inventory-Epilepsy-Youth (NDDI-E-Y) in adolescent patients in a comprehensive epilepsy center to identify patients who need referral for mental health care.
Quality Improvement: Implementing A Foot Exam To Improve Care For Patients With Diabetes Mellitus, Emily Paprocki, Ryan Mcdonough, Tiffany Musick, Joseph Cernich
Quality Improvement: Implementing A Foot Exam To Improve Care For Patients With Diabetes Mellitus, Emily Paprocki, Ryan Mcdonough, Tiffany Musick, Joseph Cernich
Posters
No abstract provided.
The Headache Champion Program, Courtney Wellman, Kristin Allender
The Headache Champion Program, Courtney Wellman, Kristin Allender
Posters
BACKGROUND
Approximately 10% of school age children suffer from migraines, making migraines one of the top five health problems experienced by youth today
School nurses often are the first healthcare provider seen by youth with migraine; visits to the school nurse for headaches amounted to one-third of the enrolled student population in a large local school district. (see reference)
Empowering school nurses through education and resources to identify and manage migraines therefore may have significant benefits to children with migraines and their families.
OBJECTIVE
To improve migraine care in the community through establishing a headache specialist mentorship program for select …
Long-Term Excess Risk Of Stroke In People With Type 2 Diabetes In Sweden According To Blood Pressure Level: A Population-Based Case-Control Study., C Hedén Ståhl, M Lind, A-M Svensson, M Kosiborod, S Gudbjörnsdottir, A Pivodic, Mark A. Clements, A Rosengren
Long-Term Excess Risk Of Stroke In People With Type 2 Diabetes In Sweden According To Blood Pressure Level: A Population-Based Case-Control Study., C Hedén Ståhl, M Lind, A-M Svensson, M Kosiborod, S Gudbjörnsdottir, A Pivodic, Mark A. Clements, A Rosengren
Manuscripts, Articles, Book Chapters and Other Papers
AIMS: To estimate the risk of stroke in people with Type 2 diabetes with different blood pressure levels compared with the risk in the general population in Sweden.
METHODS: This prospective case-control study included 408 076 people with Type 2 diabetes, aged ≥ 18 years, and free of prior stroke, registered in the Swedish National Diabetes Register 1998-2011. Age- and sex-matched control subjects (n = 1 913 507) without stroke from the general population were included. Stroke diagnoses were retrieved using International Classification of Disease codes from the Swedish patient and death registers. Cox hazard ratios and 95% confidence intervals …
Use Of The Ketogenic Diet In The Neonatal Intensive Care Unit-Safety And Tolerability., Lindsey M. Thompson, Erin Day Fecske, Mohammad Salim, Ara Hall
Use Of The Ketogenic Diet In The Neonatal Intensive Care Unit-Safety And Tolerability., Lindsey M. Thompson, Erin Day Fecske, Mohammad Salim, Ara Hall
Manuscripts, Articles, Book Chapters and Other Papers
Drug-resistant epilepsy poses a challenge in neonatal patients, especially those in the neonatal intensive care unit (NICU), who have various secondary comorbidities. We present results of four children with a history of drug-resistant epilepsy for whom a ketogenic diet was initiated and used in the NICU. A nonfasting induction into ketosis over 1-2 weeks was utilized, with gradual increases in the ketogenic ratio every 2-3 days. Data were collected retrospectively from a database, which included medical history, daily progress notes, relevant laboratory data, and imaging and diagnostic information. The ketogenic diet was well tolerated in all cases. The most common …
Ketogenic Diet Decreases Emergency Room Visits And Hospitalizations Related To Epilepsy., Husam R. Kayyali, Anastasia Luniova, Ahmed Abdelmoity
Ketogenic Diet Decreases Emergency Room Visits And Hospitalizations Related To Epilepsy., Husam R. Kayyali, Anastasia Luniova, Ahmed Abdelmoity
Manuscripts, Articles, Book Chapters and Other Papers
Background. Approximately, one-third of patients with epilepsy are refractory to pharmacological treatment which mandates extensive medical care and imposes significant economic burden on patients and their societies. This study intends to assess the impact of the treatment with ketogenic diet (KD) on reducing seizure-related emergency room visits and hospitalizations in children with refractory epilepsy. Methods. This is a retrospective review of children treated with the KD in one tertiary center. We compared a 12 months' period prior to KD with 12 months after the diet was started in regard to the number of emergency department (ED) visits, hospitalizations, …