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Articles 1 - 30 of 44
Full-Text Articles in Medicine and Health Sciences
National Prescribing Practices For Dystonia Among Providers In The United States, Sarah Paige Davis, Natalie J. Kane, Haley Botteron, Rose N. Gelineau-Morel
National Prescribing Practices For Dystonia Among Providers In The United States, Sarah Paige Davis, Natalie J. Kane, Haley Botteron, Rose N. Gelineau-Morel
Posters
Objective: While multiple oral medications are used to treat dystonia, limited information exists on current prescribing practices. This study analyzes prescribing practices for dystonia in the United States, evaluating variations in dosing and impact of co-morbidities. Methods: Querying the Cerner Real World database from 2014 to 2019 for children age 0-18 with an ICD-10 diagnosis containing “dystonia” resulted in 11,300 inpatient and outpatient encounters. Information extracted included current dystonia medications (baclofen, clonidine, carbidopa-levodopa, gabapentin, tetrabenazine, trihexyphenidyl, and benzodiazepines including diazepam, clonazepam, midazolam, and lorazepam), medication dosing, and co-morbid diagnoses of cerebral palsy, epilepsy, or spasticity. Encounters without current weight were …
Feasibility Of And Experience Using A Portable Mri Scanner In The Neonatal Intensive Care Unit., Maura Sien, Amie L. Robinson, Houchun H. Hu, Christopher R. Nitkin, Ara Hall, Marcie G. Files, Nathan S. Artz, John T. Pitts, Sherwin S. Chan
Feasibility Of And Experience Using A Portable Mri Scanner In The Neonatal Intensive Care Unit., Maura Sien, Amie L. Robinson, Houchun H. Hu, Christopher R. Nitkin, Ara Hall, Marcie G. Files, Nathan S. Artz, John T. Pitts, Sherwin S. Chan
Manuscripts, Articles, Book Chapters and Other Papers
OBJECTIVE: A portable, low-field MRI system is now Food and Drug Administration cleared and has been shown to be safe and useful in adult intensive care unit settings. No neonatal studies have been performed. The objective is to assess our preliminary experience and assess feasibility of using the portable MRI system at the bedside in a neonatal intensive care unit (NICU) at a quaternary children's hospital.
STUDY DESIGN: This was a single-site prospective cohort study in neonates ≥2 kg conducted between October and December 2020. All parents provided informed consent. Neonates underwent portable MRI examination in the NICU with support …
The Use Of Virtual Tools In Narrowing The Impact Of Health Disparities In Neurology., Jean-Baptist Lepichon, Stephanie Horton, Omar Abdelmoity, Mark A. Hoffman, Emily Cramer, Nirmeen Kishk, Salah Hamada, Ahmed Abdelmoity
The Use Of Virtual Tools In Narrowing The Impact Of Health Disparities In Neurology., Jean-Baptist Lepichon, Stephanie Horton, Omar Abdelmoity, Mark A. Hoffman, Emily Cramer, Nirmeen Kishk, Salah Hamada, Ahmed Abdelmoity
Manuscripts, Articles, Book Chapters and Other Papers
The concept of Epilepsy Treatment Gap (ETG) refers to the proportion of people with epilepsy who are not being appropriately treated. The ETG in the USA approaches 10%, with historically underserved populations and rural populations disproportionately affected. The ETG in Low-and Middle-Income Countries (LMIC) is reported to be 5-10 times higher than in high-income countries. The growing availability of reliable internet access offers a unique opportunity to provide better care to children and adults with epilepsy. In this paper we explore various telehealth (TH) initiatives that have leveraged the availability of easy and free access to an internet connection in …
Pharmacokinetic Evaluation Of Intravenous Vitamin C: A Classic Pharmacokinetic Study., Ping Chen, Greg Reed, Joyce Jiang, Yaohui Wang, Jean Sunega, Ruochen Dong, Yan Ma, Anna E. Esparham, Ryan Ferrell, Mark Levine, Jeanne Drisko, Qi Chen
Pharmacokinetic Evaluation Of Intravenous Vitamin C: A Classic Pharmacokinetic Study., Ping Chen, Greg Reed, Joyce Jiang, Yaohui Wang, Jean Sunega, Ruochen Dong, Yan Ma, Anna E. Esparham, Ryan Ferrell, Mark Levine, Jeanne Drisko, Qi Chen
Manuscripts, Articles, Book Chapters and Other Papers
Purpose: Intravenous vitamin C (IVC) is used in a variety of disorders with limited supporting pharmacokinetic data. Herein we report a pharmacokinetic study in healthy volunteers and cancer participants with IVC doses in the range of 1-100 g.
Methods: A pharmacokinetic study was conducted in 21 healthy volunteers and 12 oncology participants. Healthy participants received IVC infusions of 1-100 g; oncology participants received IVC infusions of 25-100 g. Serial blood and complete urine samples were collected pre-infusion and for 24 h post-infusion. Pharmacokinetic parameters were computed using noncompartmental methods. Adverse events were monitored during the study.
Results: In both cohorts, …
Barriers, Access And Management Of Paediatric Epilepsy With Telehealth., Kari Gali, Sucheta Joshi, Sarah Hueneke, Alexis Katzenbach, Linda Radecki, Trisha Calabrese, Linda Fletcher, Cristina Trandafir, Carey Wilson, Monisha Goyal, Courtney J. Wusthoff, Jean-Baptist Lepichon, Rhonda Corvalan, April Golson, Jessica Hardy, Michael Smith, Elizabeth Cook, Joshua L. Bonkowsky
Barriers, Access And Management Of Paediatric Epilepsy With Telehealth., Kari Gali, Sucheta Joshi, Sarah Hueneke, Alexis Katzenbach, Linda Radecki, Trisha Calabrese, Linda Fletcher, Cristina Trandafir, Carey Wilson, Monisha Goyal, Courtney J. Wusthoff, Jean-Baptist Lepichon, Rhonda Corvalan, April Golson, Jessica Hardy, Michael Smith, Elizabeth Cook, Joshua L. Bonkowsky
Manuscripts, Articles, Book Chapters and Other Papers
Access to paediatric neurology care is complex, resulting in significant wait times and negative patient outcomes. The goal of the American Academy of Pediatrics National Coordinating Center for Epilepsy's project, Access Improvement and Management of Epilepsy with Telehealth (AIM-ET), was to identify access and management challenges in the deployment of telehealth technology. AIM-ET organised four paediatric neurology teams to partner with primary-care providers (PCP) and their multidisciplinary teams. Telehealth visits were conducted for paediatric epilepsy patients. A post-visit survey assessed access and satisfaction with the telehealth visit compared to an in-person visit. Pre/post surveys completed by PCPs and neurologists captured …
Grading Of Improvement In Hypsarrhythmia With Standard Epileptic Spasms Treatment At A Large Pediatric Tertiary Care Center, Julie Grace Gianakon, Roha Khalid, Mohammed Ilyas
Grading Of Improvement In Hypsarrhythmia With Standard Epileptic Spasms Treatment At A Large Pediatric Tertiary Care Center, Julie Grace Gianakon, Roha Khalid, Mohammed Ilyas
Posters
Background Epileptic spasm is a peculiar type of epileptic seizure, entailing the clinical spasms and a characteristic electroencephalogram (EEG) abnormality often called hypsarrhythmia or its variants. The main goal of epileptic spasm treatment with standard therapy is to suppress clinical spasms and abolish the hypsarrhythmia and its variant EEG pattern. This interictal EEG pattern frequently heralds developmental regression. The elimination of hypsarrhythmia is a principal goal of therapy and a key outcome measure in clinical trials. There have been several studies in the interpretation or grading of hypsarrhythmia (Watanabe et al.1993 & Jeavons & Bower et al.1961). Still, there have …
Lipomatous Infiltration In Tuberous Sclerosis Complex - A Case Series And Literature Review., Mohammed Ilyas, Julio Quezada, Erin K. Opfer
Lipomatous Infiltration In Tuberous Sclerosis Complex - A Case Series And Literature Review., Mohammed Ilyas, Julio Quezada, Erin K. Opfer
Manuscripts, Articles, Book Chapters and Other Papers
Diffuse Lipomatosis is a dermatological lesion consisting of a poorly circumscribed, infiltrative overgrowth of mature adipose tissue that usually affects the trunk and the extremities. The lesions in the Tuberous Sclerosis Complex (TSC) are usually hamartomatous in nature, but lesions arising from adipocytes are rare. There are only three previous reports of association of TSC with diffuse lipomatosis. Herein we present a case series of diffuse lipomatosis in three subjects with TSC and proceed to review the literature for any other reported cases. On the basis of the three index cases and identification of three more cases in the literature, …
Use Of Artificial Intelligence To Identify Predictors Of Functional Outcomes In Patients With Facioscapulohumeral Muscular Dystrophy, Natalie K. Katz
Use Of Artificial Intelligence To Identify Predictors Of Functional Outcomes In Patients With Facioscapulohumeral Muscular Dystrophy, Natalie K. Katz
Research Days
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy characterized by slowly progressive muscle weakness. Symptoms initially involve the facial and shoulder girdle muscles, with later involvement of the distal lower extremities, pelvic girdle and proximal lower extremities. FSHD type 1 (FHSD1) is the most common form (~95% of individuals) and is caused by deletion of microsatellite repeats in the D4Z4 region on chromosome 4 (4q35). Normal individuals have >10 repeats whereas individuals with FSHD1 have 1-10 repeats. There is significant variability in regards to disease severity, rates of progression and functional outcomes, but …
Teaching Pediatric Procedural Pain And Anxiety Management To Residents: Early Outcomes Of A Newly Developed Curriculum, Jennifer J. Dilts, Brian R. Lee, Shobhit Jain, Ross Newman, Sarah Fouquet, Michael Brancato, Kadriye O. Lewis
Teaching Pediatric Procedural Pain And Anxiety Management To Residents: Early Outcomes Of A Newly Developed Curriculum, Jennifer J. Dilts, Brian R. Lee, Shobhit Jain, Ross Newman, Sarah Fouquet, Michael Brancato, Kadriye O. Lewis
Posters
Background: Poorly managed pediatric pain has negative long-term outcomes, including needle phobia, increased pain and anxiety with subsequent procedures, and healthcare avoidance in adulthood. Evidence-based interventions to reduce procedural pain and anxiety are vastly underutilized, and a literature search revealed no specific curriculum to teach residents optimal skills for pain and anxiety management in minor procedures (e.g. venipuncture, laceration repair). Thus, we developed a multimedia-based lecture with PowerPoint, utilizing results from a focus group interview (conducted with 7 pediatric residents, to determine educational content and identify residents’ needs and learning preferences).
Objective: To measure residents’ learning outcomes (knowledge, attitudes, perceived …
Virtual Child Neurology Education During Covid-19 And Beyond, Jennifer J. Dilts, Rose N. Gelineau-Morel
Virtual Child Neurology Education During Covid-19 And Beyond, Jennifer J. Dilts, Rose N. Gelineau-Morel
Posters
Background: Even prior to the Coronavirus Disease 2019 (COVID-19) pandemic, Children’s Mercy Kansas City’s large neurology division struggled to engage learners in educational conferences. With 113 division members across 5 locations, attending conferences was challenging. While some conferences were live-streamed, we offered no recorded lectures, and most conferences were attended solely by trainees and 3-4 select faculty. COVID-19 eliminated in-person group learning opportunities.
Objective: We aimed to rapidly develop and implement a comprehensive and inclusive virtual child neurology curriculum and assess its impact.
Design/Methods: We created a neurology education “team” using Microsoft® Teams. Within 1 week of beginning social distancing, …
The Efficacy And Tolerability Of Auto-Stimulation-Vns In Children With Lennox-Gastaut Syndrome., Sherouk A. Abdelmoity, Ayman Abdelmoity, Sean M. Riordan, Christian Kaufman, Jean-Baptist Lepichon, Ahmed Abdelmoity
The Efficacy And Tolerability Of Auto-Stimulation-Vns In Children With Lennox-Gastaut Syndrome., Sherouk A. Abdelmoity, Ayman Abdelmoity, Sean M. Riordan, Christian Kaufman, Jean-Baptist Lepichon, Ahmed Abdelmoity
Manuscripts, Articles, Book Chapters and Other Papers
OBJECTIVE: Lennox-Gastaut syndrome (LGS) is a severe drug-resistant epilepsy (DRE) of childhood. The Vagus Nerve Stimulator (VNS) is established as a safe and effective treatment for DRE. This study assesses efficacy and tolerability of the auto-stimulation VNS models in pediatric patients with LGS.
METHODS: This is a retrospective chart review of a cohort of pediatric patients (Age 1-18 years old) with LGS implanted with an auto-stimulation VNS model at a single level four pediatric epilepsy center. Patient responder's rate was measured as seizure reduction over baseline and improvements in five quality-of-life measures as reported by the patients and families. Efficacy …
Combined Use Of The Ketogenic Diet And Vagus Nerve Stimulation In Pediatric Drug-Resistant Epilepsy., Ayman Abdelmoity, Jean-Baptist Lepichon, Sherouk A. Abdelmoity, Ashley K. Sherman, Ara Hall, Ahmed Abdelmoity
Combined Use Of The Ketogenic Diet And Vagus Nerve Stimulation In Pediatric Drug-Resistant Epilepsy., Ayman Abdelmoity, Jean-Baptist Lepichon, Sherouk A. Abdelmoity, Ashley K. Sherman, Ara Hall, Ahmed Abdelmoity
Manuscripts, Articles, Book Chapters and Other Papers
Objective: Patients with drug-resistant epilepsy (DRE) pose considerable management challenges for patients, their families, and providers. Both the vagus nerve stimulator (VNS) and the ketogenic diet (KD) have been shown to be safe and effective in treating DRE. Nevertheless, information is lacking regarding treatment with combination of both modalities. This study reports the efficacy and tolerability of combining VNS and KD in a pediatric cohort with intractable epilepsy.
Methods: This is a retrospective review of 33 patients (0-17 years) with DRE treated with VNS and KD at a single pediatric level IV epilepsy center. We compared seizure reduction rates for …
De Novo Variants Of Nr4a2 Are Associated With Neurodevelopmental Disorder And Epilepsy., Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah Green, Koen Van Gassen, Tracy Brandt, Rhonda E. Schnur, Francisca Millan, Yue Si, Volker Mall, Juliane Winkelmann, Ralitza H. Gavrilova, Eric W. Klee, Kendra Engleman, Nicole P. Safina, Rachel Slaugh, Emily M. Bryant, Wen-Hann Tan, Jorge Granadillo, Sunita N. Misra, G Bradley Schaefer, Shelley Towner, Eva H. Brilstra, Bobby P C Koeleman
De Novo Variants Of Nr4a2 Are Associated With Neurodevelopmental Disorder And Epilepsy., Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah Green, Koen Van Gassen, Tracy Brandt, Rhonda E. Schnur, Francisca Millan, Yue Si, Volker Mall, Juliane Winkelmann, Ralitza H. Gavrilova, Eric W. Klee, Kendra Engleman, Nicole P. Safina, Rachel Slaugh, Emily M. Bryant, Wen-Hann Tan, Jorge Granadillo, Sunita N. Misra, G Bradley Schaefer, Shelley Towner, Eva H. Brilstra, Bobby P C Koeleman
Manuscripts, Articles, Book Chapters and Other Papers
PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene.
METHODS: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one patient. Targeted RNA sequencing was performed for one variant to confirm its splicing effect. Independent discoveries were shared through GeneMatcher.
RESULTS: Missense and loss-of-function variants in NR4A2 were identified in patients from eight unrelated families. One patient carried a larger deletion including adjacent genes. The cases presented with developmental delay, hypotonia (six cases), and epilepsy (six cases). De novo status was …
Polyspike Ictal-Onset Absence Seizures In A Pediatric Patient With Down Syndrome., Sherouk A. Abdelmoity, Mohammed Ilyas
Polyspike Ictal-Onset Absence Seizures In A Pediatric Patient With Down Syndrome., Sherouk A. Abdelmoity, Mohammed Ilyas
Manuscripts, Articles, Book Chapters and Other Papers
Polyspike ictal-onset absence seizure has been reported in adult patients with genetic generalized epilepsy but is a novel pattern in the pediatric population. Absence seizures are usually associated with generalized spike-and-wave on EEG. However, we present the case of a 10-year-old girl with Down syndrome and developmental delays who presented with atypical absence seizure associated with an unusual electroencephalographic (EEG) pattern of polyspike ictal-onset. Recognition of this ictal pattern in the pediatric population, as previously reported in adult populations, is important as it can have therapeutic and prognostic implications.
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 …
Pathogenic Variants In Kptn Gene Identified By Clinical Whole-Genome Sequencing, Isabelle Thiffault, Andrea Atherton, Bryce Heese, Ahmed Abdelmoity, Kailash Pawar, Emily G. Farrow, Lee Zellmer, Neil A. Miller, Sarah E. Soden, Carol J. Saunders
Pathogenic Variants In Kptn Gene Identified By Clinical Whole-Genome Sequencing, Isabelle Thiffault, Andrea Atherton, Bryce Heese, Ahmed Abdelmoity, Kailash Pawar, Emily G. Farrow, Lee Zellmer, Neil A. Miller, Sarah E. Soden, Carol J. Saunders
Manuscripts, Articles, Book Chapters and Other Papers
Status epilepticus is not rare in critically ill intensive care unit patients, but its diagnosis is often delayed or missed. The mortality for convulsive status epilepticus is dependent on the underlying aetiologies and the age of the patients and thus varies from study to study. In this context, effective molecular diagnosis in a pediatric patient with a genetically heterogeneous phenotype is essential. Homozygous or compound heterozygous variants in KPTN have been recently associated with a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. We describe a comprehensive investigation of a 9-yr-old male patient who was admitted to the intensive care …
Childhood Absence With Polyspike Ictal-Onset, Sherouk A. Abdelmoity
Childhood Absence With Polyspike Ictal-Onset, Sherouk A. Abdelmoity
Research Days
No abstract provided.
Musculoskeletal Pain Outcomes Pre- And Post Intrathecal Baclofen Pump Implant In Children With Cerebral Palsy: A Prospective Cohort Study., Chantel C. Barney, Alyssa M. Merbler, Jean Stansbury, Linda E. Krach, Michael D. Partington, Patrick Graupman, Peter D. Kim, Debbie Song, Frank J. Symons
Musculoskeletal Pain Outcomes Pre- And Post Intrathecal Baclofen Pump Implant In Children With Cerebral Palsy: A Prospective Cohort Study., Chantel C. Barney, Alyssa M. Merbler, Jean Stansbury, Linda E. Krach, Michael D. Partington, Patrick Graupman, Peter D. Kim, Debbie Song, Frank J. Symons
Manuscripts, Articles, Book Chapters and Other Papers
Objective: To characterize musculoskeletal pain intensity, duration, frequency, and interference with activities of daily living in children with cerebral palsy (CP) before and after intrathecal baclofen pump placement.
Design: Prospective cohort study.
Setting: Children's tertiary hospital.
Participants: Participants were children with CP (N=32; 53% male; mean age, 9.9y; age range, 4-17y). The majority of participants had a CP diagnosis of quadriplegia (76%) and relied on wheeled mobility (91%).
Interventions: Assessments were completed pre- and post intrathecal baclofen pump implant.
Main outcome measures: Because of considerable patient heterogeneity, both pain measures (Brief Pain Inventory, Dalhousie Pain Interview) were completed by proxy …
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 …
Dr. Ahmed Abdelmoity To Receive Endowed Chair, Children's Mercy Hospital
Dr. Ahmed Abdelmoity To Receive Endowed Chair, Children's Mercy Hospital
Our Story Continues
Former Children’s Mercy CEO Rand O’Donnell, PhD, and his wife, Melva, are establishing an endowed chair position that will be awarded to Ahmed Abdelmoity, MD, FAAP, Division Director of Child Neurology, Section Chief of Epilepsy and Neurophysiology. Dr. Abdelmoity will become our 31st endowed chair at Children’s Mercy.
Msto1 Mutations Cause Mtdna Depletion, Manifesting As Muscular Dystrophy With Cerebellar Involvement., S Donkervoort, R Sabouny, P Yun, L Gauquelin, K R Chao, Y Hu, I Al Khatib, A Töpf, P Mohassel, B B Cummings, R Kaur, D Saade, S A Moore, L B Waddell, M A Farrar, J K Goodrich, P Uapinyoying, S H S Chan, A Javed, M E Leach, P Karachunski, J Dalton, L Medne, A Harper, C Thompson, Isabelle Thiffault, S Specht, R E Lamont, Carol J. Saunders, H Racher, F P Bernier, D Mowat, N Witting, J Vissing, R Hanson, Keith A. Coffman, Meagan K. Hainlen, J S Parboosingh, A Carnevale, G Yoon, R E Schnur, Care4rare Canada Consortium, K M Boycott, J K Mah, V Straub, A Reghan Foley, A M Innes, C G Bönnemann, T E Shutt
Msto1 Mutations Cause Mtdna Depletion, Manifesting As Muscular Dystrophy With Cerebellar Involvement., S Donkervoort, R Sabouny, P Yun, L Gauquelin, K R Chao, Y Hu, I Al Khatib, A Töpf, P Mohassel, B B Cummings, R Kaur, D Saade, S A Moore, L B Waddell, M A Farrar, J K Goodrich, P Uapinyoying, S H S Chan, A Javed, M E Leach, P Karachunski, J Dalton, L Medne, A Harper, C Thompson, Isabelle Thiffault, S Specht, R E Lamont, Carol J. Saunders, H Racher, F P Bernier, D Mowat, N Witting, J Vissing, R Hanson, Keith A. Coffman, Meagan K. Hainlen, J S Parboosingh, A Carnevale, G Yoon, R E Schnur, Care4rare Canada Consortium, K M Boycott, J K Mah, V Straub, A Reghan Foley, A M Innes, C G Bönnemann, T E Shutt
Manuscripts, Articles, Book Chapters and Other Papers
MSTO1 encodes a cytosolic mitochondrial fusion protein, misato homolog 1 or MSTO1. While the full genotype-phenotype spectrum remains to be explored, pathogenic variants in MSTO1 have recently been reported in a small number of patients presenting with a phenotype of cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic and pigmentary retinopathy. The proposed underlying pathogenic mechanism of MSTO1-related disease is suggestive of impaired mitochondrial fusion secondary to a loss of function of MSTO1. Disorders of mitochondrial fusion and fission have been shown to also lead to mitochondrial DNA (mtDNA) depletion, linking them to the mtDNA …
Scurvy Presenting With Limp And Weakness: A Case Report., Robin M. Lund, Mara L. Becker, Steven Shapiro, Tyler Allison, Julia G. Harris
Scurvy Presenting With Limp And Weakness: A Case Report., Robin M. Lund, Mara L. Becker, Steven Shapiro, Tyler Allison, Julia G. Harris
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: Scurvy is one of the oldest diseases known to mankind. Although presently rare in the developed world, scurvy was a common potentially fatal disease. In recent times, the most common risk factors for scurvy include alcoholism, low socioeconomic status, and severely poor nutrition or dietary restriction secondary to psychiatric illness or developmental disorders. Our case demonstrates the importance of having a high index of clinical suspicion of an uncommon disease in developed countries and emphasizes the necessity of a dietary screening that could potentially reduce extensive work-up in patients with nonspecific complaints.
CASE PRESENTATION: We report a case of …
Initiating The Ketogenic Diet In Infants With Treatment Refractory Epilepsy While Maintaining A Breast Milk Diet, Jean-Baptist Lepichon, Lindsey M. Thompson, Megan Gustafson, Ahmed Abdelmoity
Initiating The Ketogenic Diet In Infants With Treatment Refractory Epilepsy While Maintaining A Breast Milk Diet, Jean-Baptist Lepichon, Lindsey M. Thompson, Megan Gustafson, Ahmed Abdelmoity
Manuscripts, Articles, Book Chapters and Other Papers
© 2019 The Authors
Purpose: The ketogenic diet has been found to be safe and effective in the treatment of drug resistant epilepsy in childhood. The age range of children undergoing this treatment has steadily been going down. There is strong evidence that it is a safe alternative in infants with drug resistant seizures. The American Academy of Pediatrics strongly supports continuing a breast milk diet until infants are at least six months of age. The purpose of this study is to evaluate the safety and efficacy of the ketogenic diet in infants while maintaining a breast milk diet.
Method: …
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 …
Weighted Pathway Genetic Load Analysis Of Hyperbilirubinemic Infants Indicates A Potential Genetic Component For Susceptibility To Bilirubin Neurotoxicity, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, John Cowden, Monica Villagullen, Laurence Thielemans, Dina Villanueva Garcia, Jesus Aguirre-Hernandez
Weighted Pathway Genetic Load Analysis Of Hyperbilirubinemic Infants Indicates A Potential Genetic Component For Susceptibility To Bilirubin Neurotoxicity, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, John Cowden, Monica Villagullen, Laurence Thielemans, Dina Villanueva Garcia, Jesus Aguirre-Hernandez
Posters
Severe kernicterus spectrum disorder (KSD) is described as motor and auditory deficits resulting from brain damage caused by hyperbilirubinemia. The severity of HB does not always predict the severity of injury. The lack of a strong monogenetic link to susceptibility suggests bilirubin-induced brain damage may be due to impaired bilirubin response pathways. This poster describes work to use a modified pathway genetic load (mPGL) score method to perform a targeted genetic analysis of whole exome data from patients with various degrees of neonatal HB, with an ultimate goal of developing a neonatal screen to susceptibiltiy to bilirubin neurotoxicity.
Total And Free Plasma Bilirubin And Clinical Outcomes In Severe Hyperbilirubinemia, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, Tina Slusher, Fatima Abdullahi, Hafsat M. Suleiman, Victor C. Pam, Mamu B. Samuel, Christopher S. Yilgwan, Christian Isichei, Idris Y. Mohammed
Total And Free Plasma Bilirubin And Clinical Outcomes In Severe Hyperbilirubinemia, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, Tina Slusher, Fatima Abdullahi, Hafsat M. Suleiman, Victor C. Pam, Mamu B. Samuel, Christopher S. Yilgwan, Christian Isichei, Idris Y. Mohammed
Posters
Acute bilirubin encephalopathy (ABE) and kernicterus spectrum disorder (KSD) have become relatively uncommon in high income countries but remain a major cause of morbidity and mortality in low- and middle-income countries. To better understand the relationship between free (Bf) and total (TB) bilirubin levels and the development of ABE and KSD we followed infants born in three large tertiary centers in northern and central Nigeria (Jos, Kano and Zaria).
Developing Technologically Advanced Research In Low- And Middle-Income Countries, Isa Abdulkadir, Tina Slusher, Fidelia Bode-Thomas, Sean Riordan, Jean-Baptiste Lepichon, Laila Hassan, Shehu Abdullahi, Akinyemi Ofakunrin, Stephen Oguche, Steven Shapiro, William Ogala
Developing Technologically Advanced Research In Low- And Middle-Income Countries, Isa Abdulkadir, Tina Slusher, Fidelia Bode-Thomas, Sean Riordan, Jean-Baptiste Lepichon, Laila Hassan, Shehu Abdullahi, Akinyemi Ofakunrin, Stephen Oguche, Steven Shapiro, William Ogala
Posters
This poster presents a collaboration between a group of scientists in Nigeria and the USA in developing a genomic research project and the solutions adopted in tackling the ethical implications and partnership equity and ownership of such a project.
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.
Review Of Karyotypic Data From Low Grade Glial Brain Tumors, Specifically Pilocytic Astrocytomas, And Correlation Of Genetic Aberrations With Tumor Recurrence., Linda D. Cooley, Scott C. Smith, Lisa Warren, Melissa Gener, Kevin Ginn, John Herriges
Review Of Karyotypic Data From Low Grade Glial Brain Tumors, Specifically Pilocytic Astrocytomas, And Correlation Of Genetic Aberrations With Tumor Recurrence., Linda D. Cooley, Scott C. Smith, Lisa Warren, Melissa Gener, Kevin Ginn, John Herriges
Posters
Abstract: Brain tumors are the most common solid tumor of childhood. Approximately 50% of pediatric CNS tumors are low grade gliomas (WHO grade I or II) and Pilocytic astrocytoma (PA) is the most common accounting for 33% of all gliomas in children 0-14 years and ~18% of all childhood brain tumors. Prognosis with this slow-growing tumor is excellent; 10 year overall survival of ~95%. However, event free survival averages ~50%. Patient age and extent of tumor resection are key prognostic factors; tumor location and size impact resection and outcome. Histopathological features indicate PA is a benign tumor and rarely are …
Pediatric Headache Clinic Model: Implementation Of Integrative Therapies In Practice., Anna E. Esparham, Anne Herbert, Emily Pierzchalski, Catherine Tran, Jennifer J. Dilts, Madeline Boorigie, Tammie Wingert, Mark Connelly, Jennifer Bickel
Pediatric Headache Clinic Model: Implementation Of Integrative Therapies In Practice., Anna E. Esparham, Anne Herbert, Emily Pierzchalski, Catherine Tran, Jennifer J. Dilts, Madeline Boorigie, Tammie Wingert, Mark Connelly, Jennifer Bickel
Manuscripts, Articles, Book Chapters and Other Papers
The demand for integrative medicine has risen in recent years as research has demonstrated the efficacy of such treatments. The public has also become more conscientious of the potential limitations of conventional treatment alone. Because primary headache syndromes are often the culmination of genetics, lifestyle, stress, trauma, and environmental factors, they are best treated with therapies that are equally multifaceted. The Children’s Mercy Hospital, Kansas City, Missouri Headache Clinic has successfully incorporated integrative therapies including nutraceuticals, acupuncture, aromatherapy, biofeedback, relaxation training, hypnosis, psychology services, and lifestyle recommendations for headache management. This paper provides a detailed review of the implementation of …