HPD Research Day | February 16, 2018

37 as sodium salt, they differ in degree of substitution and level of crosslinking, potentially affecting their deterrence performance in extracting solvents. Methods. DEX and CMC/CMS mixtures were prepared in different aqueous solvents. Drug concentration in solution was determined (UV Spectrophotometer). Percent of entrapment was calculated from the mass balance. Same procedure was repeated using washed Explotab CLV. Results. AcDiSol showed highest entrapment compared with non-washed Explotabs in polar solvents (>80% versus ~60%). Comparable results were achieved in less polar solvents or those containing ions. Conclusion. Higher degree of substitution significantly enhanced the deterrence capacity of cellulose and starch derivatives in polar solvents. Crosslinking had no significant effect on total drug entrapment. Ionic interferences, derived from solvents or polymers, negatively affected the entrapment efficiency. Grants. This study was supported by NSU Grants 335357 & 335829 Atrium – Poster 18 12:15-1:15 p.m. Growth Suppression in Children with Frequently-Relasing/Steroid-Dependent Nephrotic Syndrome Alex R. Constantinescu, MD, Professor, College of Allopathic Medicine, Joe DiMaggio Children's Hospital O.Marginean, Louis Turcanu Children’s Hospital, Timisoara, Romania E.Velis, Barry University, Miami, FL Objective. Growth velocity rate (GR) in children with steroid-sensitive nephrotic syndrome (SSNS) is adversely affected by steroid dose and duration of therapy. Prediction of long term growth-suppression is desired. The purpose of this study was to characterize the growth of children with SSNS during the first year after diagnosis, in an attempt identify a predictor of growth suppression, in two geographically distinct settings. Methods. Two cohorts of pre- pubertal children (≤ 10 years of age) with SSNS treated with prednisone based on modified ISKDC protocol, 4-6 wks daily and 4-6 wks alternate day dosing, followed for at least a year, in two different settings (Romania – group 1, and USA/JDCH – group 2). Variables: relapse pattern, GR and height (Ht) SDS at 6 and 12 months. Student’s t- test where applicable, significance if p Results. 29 children with SSNS (age : 3.9±2.4 in gr 1, 4.3±1.5 in gr 2), had complete data at 12 mos, 25 at 6 mos. 14 in group 1 and 15 in group 2, 20 infrequent relapsers (IR), 9 frequent relapsing (FR)/steroid-dependent (SD) disease course. 16 Caucasians, 9 African-Americans, 4 Hispanics. Due to small sample size, in both groups combined, during the second 6-month period, GR was slower in FR/SD vs IR: 4.4±2.5 vs 8.0±4.9 cm/yr (p=0.0003), with ΔHt SDS at 1 yr of -0.5±0.7 and 0.5±0.5, respectively (p=0.003, n=29). No geographical or racial differences. Conclusion. Use of steroid-sparing agents needs to be considered if by one year after diagnosis catch-up growth is not seen in patients with FR/SD SSNS. Atrium – Poster 19 12:15-1:15 p.m. First Identification of Mutations in the Human SLC5A6 Gene Associated with Brain, Immune, Bone and Intestinal Dysfunction Alex R. Constantinescu, MD, Professor, Dr. Kiran C. Patel College of Osteopathic Medicine, Joe DiMaggio Children's Hospital V. S. Subramanian, UC Irvine/VA Medical Center, Long Beach, CA P. J. Benke, Joe DiMaggio Children's Hospital, Hollywood, FL H. M. Said, UC Irvine/VA Medical Center, Long Beach, CA Introduction. Biotin (vitamin B7) is indispensable for normal cellular metabolism due to involvement in many critical metabolic pathways including fatty acid, amino acid and energy metabolism; it also plays a role in regulating cellular level of reactive oxygen species and gene expression, as well as normal immune function/response. Human (mammalian) cells cannot synthesize biotin endogenously; they obtain the vitamin across the plasma membrane via a carrier-mediated uptake process - human sodium-dependent multivitamin transporter (hSMVT; encoded by SLC5A6 gene); this system also transports pantothenic acid and lipoate. Case presentation. Using whole exome sequencing (GeneDx), we describe the first identification of two mutations in SLC5A6 gene in a young child: R94X [(CGA>TGA) c280 C>T] and R123L [(CGC>CTC), c368 G>T]. Both mutations are located in exon 3 of SLC5A6 gene. The child exhibited failure to thrive, microcephaly, brain changes, cerebral palsy, developmental delay, immunodeficiency, severe gastro-esophageal reflux, osteoporosis and pathologic bone fractures. After identification of the hSMVT mutations, he responded favorably to supplemental administration of pharmacological doses of