1.Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion.
Qiong PAN ; Ping HU ; Jihua OU ; Xin JIN ; Fengting ZHANG ; Yue HU ; Longfei CHENG ; Liangrong HAN ; Ying NING
Chinese Journal of Medical Genetics 2015;32(5):695-699
OBJECTIVE To analyze a neonate with multiple malformations and to correlate its genotype with phenotype. METHODS The karotypes of the child and her parents were subjected to G-banding chromosome analysis, and array comparative genomic hybridization (array-CGH) was used for fine mapping of the aberrant region. RESULTS The karyotype of the child was ascertained as 46,XX,del(18)(p11.2). Array CGH has identified a 9.8 Mb deletion at 18p11.32-p11.22. The patient has presented features such as holoprosencephaly, choanal atresia, heart defect, and craniofacial dysmorphisms. CONCLUSION The de novo 18p deletion probably underlies the main clinical manifestations of the child.
Abnormalities, Multiple
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genetics
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Chromosome Banding
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Chromosome Deletion
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Chromosomes, Human, Pair 18
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Female
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Humans
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Infant, Newborn
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Phenotype
2.Development of a UHPLC-MS/MS method for the quantification of ilaprazole enantiomers in rat plasma and its pharmacokinetic application
Fengting OU ; Ying ZHOU ; Jinxiu LEI ; Su ZENG ; Fuhai WU ; Ning ZHANG ; Lushan YU
Journal of Pharmaceutical Analysis 2020;10(6):617-623
In Korea and China, ilaprazole is a widely used proton pump inhibitor in the treatment of gastric ulcers. In this study, a specific and sensitive LC-MS/MS method has been developed and validated for the quantification of ilaprazole enantiomers in the rat plasma, using R-lansoprazole as the internal standard. The enantioseparation was achieved on a CHIRALPAK AS-RH column (4.6 mm × 150 mm, i.d. 5μm), with a mobile phase composed of 10 mM ammonium acetate aqueous solution and acetonitrile (60:40, V/V), at a flow-rate of 0.5 mL/min. The method was validated over the concentration range of 0.5-300 ng/mL for both, R- and S -ilaprazole. The lower limit of quantification was 0.5 ng/mL for both enantiomers. The relative standard deviation (RSD) of intra- and inter-day precision of R-ilaprazole and S-ilaprazole was less than 10.9%, and the relative error accuracy (RE) ranged from -0.5%-2.0%. Finally, the method was successfully evaluated in rats in a stereoselective pharmacokinetic study of the ilaprazole racemate.