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5 results on '"Emily Shelkowitz"'

1. Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

Author

Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, and Johan L. K. Van Hove

Subjects
Nonketotic hyperglycinemia, Benzoate, Ketogenic diet, Magnetic resonance spectroscopy, Glycine, Epilepsy, Medicine
Abstract

Abstract Background Nonketotic hyperglycinemia (NKH) is a severe neurometabolic disorder characterized by increased glycine levels. Current glycine reduction therapy uses high doses of sodium benzoate. The ketogenic diet (KD) may represent an alternative method of glycine reduction. Aim We aimed to assess clinical and biochemical effects of two glycine reduction strategies: high dose benzoate versus KD with low dose benzoate. Methods Six infants with NKH were first treated with high dose benzoate therapy to achieve target plasma glycine levels, and then switched to KD with low dose benzoate. They were evaluated as clinically indicated by physical examination, electroencephalogram, plasma and cerebral spinal fluid amino acid levels. Brain glycine levels were monitored by magnetic resonance spectroscopy (MRS). Results Average plasma glycine levels were significantly lower with KD compared to benzoate monotherapy by on average 28%. Two infants underwent comparative assessments of brain glycine levels via serial MRS. A 30% reduction of brain glycine levels was observed in the basal ganglia and a 50% reduction in the white matter, which remained elevated above normal, and was equivalent between the KD and high dose benzoate therapies. CSF analysis obtained while participants remained on the KD showed a decrease in glycine, serine and threonine levels, reflecting their gluconeogenetic usage. Clinically, half the patients had seizure reduction on KD, otherwise the clinical impact was variable. Conclusion KD is an effective glycine reduction method in NKH, and may provide a more consistent reduction in plasma glycine levels than high-dose benzoate therapy. Both high-dose benzoate therapy and KD equally reduced but did not normalize brain glycine levels even in the setting of low-normal plasma glycine.

Published
2022
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4. The mitochondrial DNA variant m.9032T C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome

Author

Ting Chen, Austin Larson, Marisa W. Friederich, David M. Mirsky, Johan L.K. Van Hove, Lee-Jun C. Wong, Emily Shelkowitz, Kaz M. Knight, and Yue Wang

Subjects
0301 basic medicine, Male, Microcephaly, Mitochondrial DNA, Ataxia, Mitochondrial Diseases, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Downregulation and upregulation, medicine, Humans, Child, Molecular Biology, Brain, High-Throughput Nucleotide Sequencing, Cell Biology, Sequence Analysis, DNA, Mitochondrial Proton-Translocating ATPases, medicine.disease, Molecular biology, Phenotype, 030104 developmental biology, Mitochondrial biogenesis, Amino Acid Substitution, Lactic acidosis, MT-ATP6, biology.protein, Molecular Medicine, medicine.symptom, 030217 neurology & neurosurgery
Abstract

Diagnosing complex V deficiencies caused by new variants in mitochondrial DNA is challenging due to the rarity, phenotypic diversity, and limited functional assessments. We describe a child with the m.9032T > C variant in MT-ATP6 encoding p.(Leu169Pro), with primary presentation of microcephaly, ataxia, hearing loss, and lactic acidosis. Functional studies reveal abnormal fragment F1 of complex V on blue native gel electrophoresis. Respirometry showed excessively tight coupling through complex V depressing oxygen consumption upon ADP stimulation and an excessive increase following uncoupling, in the presence of upregulation of mitochondrial biogenesis. These data add evidence about pathogenicity and functional impact of this variant.

Published
2020

5. Counseling for personal care options at neonatal end of life: a quantitative and qualitative parent survey

Author

Emily Shelkowitz, Richard Tucker, Patricia O’Reilly, Beatrice E. Lechner, and Sharon Vessella

Subjects
Counseling, Male, Parents, Closed-ended question, Palliative care, Neonatal intensive care unit, media_common.quotation_subject, Memory making, Neonate, Nursing, Professional-Family Relations, Intensive Care Units, Neonatal, Surveys and Questionnaires, Medicine, Humans, media_common, Multiple choice, Medicine(all), Terminal Care, Personal care, business.industry, Infant, Newborn, General Medicine, Preference, Death, Feeling, Telephone interview, Female, business, Infant, Premature, Research Article
Abstract

Background The death of a newborn is a traumatic life changing event in the lives of parents. We hypothesized that bereaved parents of newborn infants want to have choices in the personal care of their infant at the end of life. Methods Parents who had suffered a perinatal or neonatal loss between 1 and 6 years before the survey in a regional level IV neonatal intensive care unit (NICU) and associated labor and delivery room were invited to participate. Parents chose between an online survey, paper survey or telephone interview. The survey included multiple choice and open ended questions. Results Parents prefer multiple options for the personal care of their infant at the end of life. Emergent themes were need for guidance by the medical team, memory making, feeling cared for and respected by staff, and regrets related to missed opportunities. Conclusion While parents differ in their preferences in utilizing specific personal care options for their infant’s end of life, they share a common preference for being presented with multiple options to choose from and in being guided and supported by healthcare providers, while being afforded the opportunity to make memories with their infant by bonding with and parenting them. Electronic supplementary material The online version of this article (doi:10.1186/s12904-015-0063-6) contains supplementary material, which is available to authorized users.

Published
2015

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