OBJECTIVETo investigate genetic etiology of fetal urinary abnormalities with array-based comparative genomic hycridization(array-CGH).

METHODSThirty-two fetuses with variable urinary abnormalities but normal karyotyping by conventional cytogenetic technique were selected. DNA from the fetuses and their parents samples were prepared and hybridization with Affymetrix cytogenetic 2.7M arrays by follwing the manufacture's standard protocol. The data were analyzed by special CHAS software packages.

RESULTSBy using array-CGH detection, genomic imbalanced copy number variations (CNVs) were identified in night fetuses(28%), four out of night CNVs were inherited from parental samples; two were indicated to be benign variants(6%) in the database; and the other three CNVs (9%) were all de novo adjacent microdeletions and microduplication mapping on to common chromosome 1q21.1 region, within which was genitourinaty system function associated gene PDZK1.

CONCLUSIONThe incidence of genomic unbalanced variations in fetuses with congenital urinary malformations is approximately 28%, including about 9% pathogenic variations. Copy number variations (CNVs) of chromosome 1q21.1 region are associated with congenital urinary malformations which may be due to haploinsufficiency or overexpression of PDZK1 gene.

Chromosome Deletion ; Chromosomes, Human, Pair 1 ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Female ; Humans ; Kidney ; abnormalities ; Pregnancy ; Prenatal Diagnosis

Objective To explore the effects of individualized rehabilitation training process on the life quality (QOL) of patients with stroke.Methods Totals of 120 cases were randomly divided into observational group (n =60) and control group (n =60),both groups were given neurological routine care,and the observational group was furthermore implemented individualized rehabilitation training process according to Motor Relearning Progarn (MRP) and Burnnstom Disease Staging.Then,they were investigated with the SF-36 before intervention,three days before discharge,1 month,3 month and 6 month after discharge,respectively.Results The total QOL scores were (321.22 ± 17.80),(447.93 ± 19.04),(509.80 ± 20.27),(543.91 ± 46.78),(579.31 ± 44.87) in observational group before intervention,three days before discharge,1 month,3 month,and 6 month after discharge,respectively,while in control group were (322.22 ± 19.15),(443.58 ±22.55),(472.25 ± 21.02),(471.82 ± 29.53).Results showed that the total QOL scores in the observational group was increasing progressively with the extension of intervention time.It reached peak at 6th month after discharge.And there were significantly difference in total QOL scores comparing among different time points except for 1,3 month after discharge (F =633.469,402.503,1044.881,69.654,respectively ; P ＜ 0.05).The control groups results showed that the total QOL scores raised correspondingly with time extension,but the rate of climb was mild after discharge,and no significant difference between the first and third month after discharge was found (P =0.930).Conclusions The individualized rehabilitation training process could improve the patients' survival quality.