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Dr. Ahmed Abdelmoity To Receive Endowed Chair, Children's Mercy Hospital

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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

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

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

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

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 …

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).

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.

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.