SNPMiner Trials: Mutation Report

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Report for Mutation V29C

Developed by Shray Alag, 2019.

SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

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1 A Randomized Controlled Trial on the Effectiveness of Inhaled Nitrous Oxide for Pain Relief During ROP Screening Exam in the Pre-term Infant

The primary objective of the proposed study is to show that inhaled equimolar mixture of oxygen and nitrous oxide (EMONO) will reduce pain associated with retinal exam in the preterm infant, as compared to the current standard treatment (oral sucrose and topical anaesthesia). The investigators also aim to show that EMONO can be used safely in preterm neonates undergoing retinal exam, and will not result in any increase in apnea, bradycardia, or desaturation in the 24 hours following the exam. Finally, the investigators aim to show that EMONO will keep the infant calm, and make retinal examination easier and less traumatic.

NCT00623220 Retinopathy of Prematurity Other: N2O Other: oxygen

MeSH: Retinal Diseases Premature Birth Retinopathy of Prematurity

HPO: Abnormal retinal morphology Premature birth Retinopathy

Heart and respiratory rate will be monitored using one of our NICU integrated monitors: Draeger Infinity Gamma XL (Draeger Medical Canada Inc, Richmond Hill, ON), or HP Agilent V29C/HP 895 (Hewlett Packard Company, Palo Alto, CA). --- V29C ---

Primary Outcomes

Measure: The primary objective is to show decrease of pain response in the treatment group as measured by the PIPP (Premature Infant Pain Profile) score

Time: PIPP score before, during and after eye exam

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Secondary Outcomes

Measure: Heart and respiratory rate will be monitored using one of our NICU integrated monitors. Continuous pulse oximetry will be performed with a Masimo Radical pulse oximeter.

Time: during 48 hours

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HPO Nodes

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Premature birth

Genes 124

COL3A1 TPM3 KRAS COL5A1 FLI1 COL5A2 NDUFB11 FLNB MYH7 SLC26A3 COL11A1 SF3B4 EOGT ZMPSTE24 WDR4 NUP107 ADAMTS2 AIMP1 DLL4 ABCA12 CYP11A1 SMC1A KLHL40 PEX3 ACTA1 TPRKB GAS1 HDAC8 ASCC1 GBA PEX1 SHH PEX6 PEX10 PEX12 PEX13 PEX14 LAGE3 RPS19 KLHL41 NDP ATP8B1 TDGF1 TSHR FLVCR2 OSGEP PEX11B NEB PTCH1 SIX3 DLL1 BCR NDUFB3 ITGB4 TRIP4 PTH1R NLRC4 NLRP3 PEX26 CRKL ZIC2 RNU4ATAC KIF7 PNPO ABCB4 ESCO2 BSND FZD4 SLC17A5 TGIF1 LMOD3 FBN1 SARS2 SLC12A1 LMNA BRAF CLCNKA CLCNKB MAGED2 SMC3 HOXD13 FIG4 SETD5 ARHGAP31 STRADA KCNJ1 GLI2 IGHMBP2 DHCR7 TMEM70 RBPJ PEX19 PEX16 HRAS NUP133 PEX2 PEX5 HYLS1 LRP5 KMT2A FGF8 WDR73 FGFR1 MAPK1 PLEC TP53RK FOXH1 DOCK6 SUFU MAP2K1 MAP2K2 NODAL NIPBL MED12 DISP1 MUSK NOTCH1 RPL10 SLC27A4 CRB2 CDON COL1A1 RAD21 COL1A2

Retinopathy

Genes 115

COL2A1 IL10 CDKN2A HFE KRAS CDKN2B CDKN2D IL12A IL12B SCO2 TREX1 ASXL1 KLF11 HNF1A ERCC2 COL11A1 ERCC3 ERCC4 ERCC5 PRTN3 CEL MLX ACD HLA-B MYO5A ERAP1 HLA-DPA1 HLA-DPB1 NSD2 NELFA INS ENPP1 GNPTAB POT1 NDUFAF3 MC1R TUBB PDX1 PEX7 PTPN22 GCK TMEM107 APOE PTCH1 IDUA FAS HNF4A TERT MCOLN1 NDUFB8 DPM1 KLRC4 ABCC6 NDUFS2 LETM1 MEFV TERF2IP MMACHC TNFRSF11B STAT3 MKS1 STAT4 TULP1 BAP1 NOD2 BLK PHYH NEU1 NEUROD1 PANK2 ATP6 NDUFAF1 MGMT BRAF TINF2 KLHL7 TRIM32 IL12A-AS1 ABCC8 SURF1 AP5Z1 KCNJ11 SAR1B TLR4 AGXT MITF CEP41 MTTP APPL1 TRNE CCR1 UBAC2 C4A FGFR1 MFSD8 CTLA4 HADHA TRNK PAX4 C1QTNF5 TRNL1 CTNS TMEM231 ALDH3A2 HBB TXN2 MAPRE2 PLOD1 CDH3 CSPP1 PLK4 IL23R KIF11 CDK4 PROS1