Walaa Elfar

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Journals/Publications

• Govindappa, P. K., Begom, M., Gupta, Y., Elfar, J. C., Rawat, M., & Elfar, W. (2023). A critical role for erythropoietin on vagus nerve Schwann cells in intestinal motility. BMC biotechnology, 23(1), 12.
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  Dysmotility and postoperative ileus (POI) are frequent major clinical problems post-abdominal surgery. Erythropoietin (EPO) is a multifunctional tissue-protective cytokine that promotes recovery of the intestine in various injury models. While EPO receptors (EPOR) are present in vagal Schwann cells, the role of EPOR in POI recovery is unknown because of the lack of EPOR antagonists or Schwann-cell specific EPOR knockout animals. This study was designed to explore the effect of EPO via EPOR in vagal nerve Schwann cells in a mouse model of POI.
• Elfar, W., Gurjar, A. A., Talukder, M. A., Noble, M., Di Lorenzo, C., & Elfar, J. (2021). Erythropoietin promotes functional recovery in a mouse model of postoperative ileus. Neurogastroenterology and motility, 33(2), e14049.
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  Dysmotility and postoperative ileus (POI) are major clinical problems after surgical trauma and it is associated with increased intestinal inflammation and oxidative stress. Despite the high occurrence of POI following intra-abdominal surgeries, no effective treatment is currently available. Erythropoietin (EPO) is a multifunctional tissue-protective cytokine with potent anti-inflammatory and anti-oxidative properties, and it is an FDA approved medicine for clinical use. While both EPO and EPO receptors (EPOR) are widely expressed in the gut, the role of EPO in POI is largely unknown. This study was designed to explore the possible beneficial effect of EPO in a mouse model of POI.
• Kovacic, K., Elfar, W., Rosen, J. M., Yacob, D., Raynor, J., Mostamand, S., Punati, J., Fortunato, J. E., & Saps, M. (2020). Update on pediatric gastroparesis: A review of the published literature and recommendations for future research. Neurogastroenterology and motility, 32(3), e13780.
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  Due to scarcity of scientific literature on pediatric gastroparesis, there is a need to summarize current evidence and identify areas requiring further research. The aim of this study was to provide an evidence-based review of the available literature on the prevalence, pathogenesis, clinical presentation, diagnosis, treatment, and outcomes of pediatric gastroparesis.
• Elfar, W., Järvinen, E., Ji, W., Mosorin, J., Sega, A. G., Iuga, A. C., Lobritto, S. J., Konstantino, M., Chan, A., Finel, M., & Lakhani, S. A. (2019). A Novel Pathogenic Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome. Drug metabolism and disposition: the biological fate of chemicals, 47(1), 45-48.
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  Uridine diphosphate glucuronosyltransferases (UGTs) are key enzymes responsible for the body's ability to process a variety of endogenous and exogenous compounds. Significant gains in understanding UGT function have come from the analysis of variants seen in patients. We cared for a Sudanese child who showed clinical features of type 1 Crigler-Najjar syndrome (CN-1), namely severe unconjugated hyperbilirubinemia leading to liver transplantation. CN-1 is an autosomal recessive disorder caused by damaging mutations in the gene for UGT1A1, the hepatic enzyme responsible for bilirubin conjugation in humans. Clinical genetic testing was unable to identify a known pathogenic mutation in this child. Instead, a novel homozygous variant resulting in an in-frame deletion, p.Val275del, was noted. Sanger sequencing demonstrated that this variant segregated with the disease phenotype in this family. We further performed functional testing using recombinantly expressed UGT1A1 with and without the patient variant, demonstrating that p.Val275del results in a complete lack of glucuronidation activity, a hallmark of CN-1. Sequence analysis of this region shows a high degree of conservation across all known catalytically active human UGTs, further suggesting that it plays a key role in the enzymatic function of UGTs. Finally, we note that the patient's ethnicity likely played a role in his variant being previously undescribed and advocate for greater diversity and inclusion in genomic medicine.