Objective To explore the study of NT-1 promote recovery mechanisms after cerebral ischemia.Methods 30 ICR mice were equally divided into NT-1 and BSA groups and respectively given NT-1 and BSA injection in the brain.The middle cerebral artery ischemia model was established with suture method.NRSS score and beam-walking test were used to exam the behavior performance after MCAO.Immnuohischemstry was used to evaluate the status of angiogenesis and apoptosis.Results Compared to the BSA group, NT-1 not only reduced the time on the beam-walking but the score of NRSS behavioristices.NT-1 also increased the number of vessels and reduced the number of apoptotic cells.Conclusion NT-1 cerebral injection can promote the recovery by increasing angiogenesis and inhibiting apoptosis.NT-1 is a promise target in the treatment of cerebral ischemia.

Objective To investigate the genetic basis of the children with growth retardation. Methods From January to October 2013, the 56 patients with growth retardation were enrolled in this study. Genomic DNA was extracted from peripheral blood and was analyzed with gene array chips. Results Abnormalities were found in 12 patients (6 cases of sex chromosome abnormalities and 6 cases of autosomal aberration) and the detection rate was 21.4%. Four patients had the copy-number variations of smaller than 2.5Mb in size which could not be found by karyotyping analysis. Conclusions SNP-array gene chip could be used in the genetic diagnosis of growth retardation.

Objective To investigate stilbene glycosides(TSG) and PNS concomitantly on PC12 cell survival rate of Alzheimer's disease.Methods The nerve cells that were seeded on the two culture plates were cultured for 1 day after the removal of primary culture fluid.In addition to the blank group, the model group and drug compatibility group were added 5 μl Aβ25-35 perpore to induced PC12 cell damage.To established AD cell damage model after exposure to the circumstances for 24 hours.Uniform design and factorial design were used respectively.After 1 d, using MTT method in ELISA analyzer measured the OD value of each pore, and calculating the survival rate of cells.Results The uniform design results showed that the cell survival rate was significantly linear with TSG and PNS (P＜0.05).From the equation, The higher the dose, the higher the cell survival rate.In this experimental condition, TSG and PNS respectively 50 mg/L, 200 mmol/L achieved the highest cell survival rate.2×2 factorial design experiments showed that, compared with the model group, the cell survival rate of TSG-PNS group (74.46％ ± 2.06％ vs.65.42％ ± 1.42％) increased (P＜0.05), but there was no interaction between the two groups (P=0.053).This showed that the combination of the two drugs in this dose has a protective effect on AD damage.Conclusion The compatibility of total saponins of two stilbene glucoside and three seven combination has the synergistic effect of anti AD damage.

Objective To investigate the genetic basis of patients with intellectual disability,and to assess the application of single nucleotide polymorphisms (SNP)-array in the molecular diagnosis of intellectual disability.Methods Sixty-four patients with intellectual disability who were identified in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2013 to June of 2015 were enrolled.Genomic DNA was extracted from peripheral blood and was analyzed with Illumina Humancyto SNP-12 300K gene array chip.All identified copy number variants (CNVs) were analyzed with references from databases such as ClinVar,DECIPHER,OMIM and DGV(Database of Genomic Variants),as well as comprehensive literature review from PubMed database to determine the pathogenicity of CNVs.Results Sixteen cases of the above 64 patients were found to have CNVs with genomic alterations,including 6 cases microdeletions/microduplications associated with known syndromes,3 cases microdeletions and microduplications with clear clinical relevance (non-syndrome),1 case numerical chromosome aberration,1 case unbalanced translocation and 5 cases CNVs of unknown clinical significance.The detection rate was 25% (16/64 cases).Among these 16 abnormalities,6 cases of them could not be detected by using karyotyping analysis because their sizes were less than 5 Mb,and the smallest detected missing fragment was 0.53 Mb.Conclusion SNP-array gene chip technique with the advantages of higher efficiency,high-resolution and good accuracy,which can be applied to the genetic diagnosis of intellectual disability.

OBJECTIVE: To explore the genetic basis and pregnancy outcome of fetuses with urinary system anomalies. METHODS: Ultrasonographic features, genetic testing and pregnancy outcomes of 337 fetuses with urinary system anomalies identified by prenatal ultrasonograhy were collected for analysis. RESULTS: Ultrasonographic features of the fetuses were mainly characterized by hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia. Thirty four fetuses (10.1%) were found to harbor a genetic defect, including 14 numerical chromosomal disorders, 10 structural chromosomal aberrations, and 10 pathogenic copy number variations (CNVs). In 31 cases, the parents elected induced labor. For the 303 fetuses with negative findings, 142 were born by spontaneous delivery or Caesarean section, 48 cases underwent induced labor, 1 case had miscarriage, and the remaining 112 cases had unknown or missed pregnancy outcomes. CONCLUSION Hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia are the most common findings among fetuses with urinary system anomalies. Approximately 10.1% of such fetuses are positive by genetic testing.
Cesarean Section ; Chromosome Aberrations ; DNA Copy Number Variations ; Female ; Fetus ; Genetic Testing ; Humans ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Ultrasonography, Prenatal

OBJECTIVETo explore the value of single nucleotide polymorphism array (SNP-array) for the analysis of pediatric patients with growth retardation.

METHODSOne hundred eighty one children with growth retardation were enrolled. DNA was extracted from peripheral samples from the patients, and whole genome copy number variations (CNVs) were detected using Illumina Human Cyto SNP-12. All identified CNVs were further analyzed with reference to databases including ClinGen, ClinVar, DECIPHER, OMIM and DGV as well as comprehensive review of literature from PubMed to determine their pathogenicity.

RESULTSForty seven patients (26%) with abnormal CNVs were detected, which included 12 known microdeletions/microduplications syndrome (26%), 10 pathogenic non-syndromic CNVs (21%), 3 numerical chromosome aberrations (6%), 3 unbalanced translocations (6%), 4 pathogenic mosaicisms (9%) and 15 cases with unknown clinical significance (32%). After excluding obvious numerical and/or structural chromosomal abnormalities, this study has detected 15 pathogenic microdeletions/microduplications sized 5 Mb or less, which may be missed by routine chromosomal karyotyping. In addition, there were 3 cases with loss of heterozygoisty (LOH) containing known or predicted imprinting genes as well as 2 cases with suspected parental consanguinity.

CONCLUSIONSNP-array technology is a powerful tool for the genetic diagnosis of children with growth disorders with advantages of high resolution and improved accuracy.

Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; DNA Copy Number Variations ; Developmental Disabilities ; diagnosis ; genetics ; Female ; Humans ; Infant ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide

Objective To investigate the genetic diversity of MICA, and to analyze the correlation between genetic polymorphisms of MICA and T1DM in population of Han and Li nationalities in Hainan province.Methods This study was performed as a case-control study.Fifty-five individuals with T1DM and Fifty-five healthy controls of Han and Li nationalities from Wuzhishan, Lingshui, Qiongzhong, Baisha, Ledong,Changjiang, Dongfang and Haikou regions in Hainan province(35 Male,20 Female of T1DM of Han;28 Male,27 Female of healthy controls of Han; 33 Male,22 Female of T1DM of Li; 28 Male, 27 Female of healthy controls of Li), were enrolled for the study.MICA allelic variation was analyzed by sequencing-based typing(PCR-SBT).Fisher′s exact test was performed to determine the statistical significance of the distribution and allele frequency of MICA.Results In healthy population,11 MICA-sequence and 5 MICA-STR alleles were found in Han nationality, while 13 MICA-sequence and 5 MICA-STR alleles were detected in Li nationality.The MICA-sequence allele MICA*008:01 and the MICA-STR allele MICA-A5 were most frequently observed in Han nationality[30.85%(29/94)and 41.49%(39/94), respectively],while MICA*002:01 and A4 were the most common in Li nationality[21.57%(22/102) and 36%(36/100), respectively].Among patients with T1DM, 10 MICA-sequence and 5 MICA-STR alleles were detected in Han, and 9 MICA-sequence and 5 MICA-STR alleles were found in Li.MICA*002:01 and A9 were most frequently observed in Han[29%(29/100),29.29%(29/99),respectively], while MICA*012:01, MICA*002:01 and the A4 were the most common in Li[21.15%(22/104), 21.15%(22/104),38.24%(39/102), respectively].The allelic frequency of MICA*002:01, MICA*010, MICA-A5, MICA-A6 and MICA-A9 between the healthy population and T 1DM patients of Han nationality(5.32%,22.34%,41.49 %,9.58%,6.38%, respectively in healthy population;29%,7%, 26.26%,2.02%,29.29%, respectively in T1DM patients), exist significant difference(χ2value were 18.799,9.233,5.218,5.197,16.762, respectively.P value were 0.000,0.002, 0.025,0.024,0.000, respectively.all P<0.05),while no significant difference(all P>0.05)between the healthy population and T1DM patients of Li nationality.Conclusions The most common MICA alleles were MICA*008:01 and MICA-A5 in healthy population of Han nationality, while MICA*002:01 and MICA-A4 in healthy population of Li nationality.MICA*002:01 and MICA-A9 were high frequency in T1DM patients of Han population,while the MICA*010,MICA-A5 and MICA-A6 were low frequency.There was not any MICA alleles associated with T1DM in Li nationality.

Objective To investigate the effect of Ganshuang granule combined with entecavir on portal vein thrombosis (PVT) in patients with hepatitis B cirrhosis. Methods A total of 356 patients with hepatitis B cirrhosis who attended and were hospitalized in The Third People's Hospital of Kunming from January 1, 2018 to December 31, 2020 were enrolled and randomly divided into combination group with 191 patients and control group with 165 patients. The patients in the combination group received Ganshuang granule combined with entecavir, and those in the control group received entecavir alone. The course of treatment was at least 24 weeks. The t -test or the Mann-Whitney U test was used for comparison of continuous data between two groups, and the chi-square test or the Fisher's exact test was used for comparison of categorical data between two groups. The Kaplan-Meier method was used to analyze the cumulative incidence rate of PVT in both groups, and the log-rank test was used for comparison between two groups. Univariate and multivariate Cox proportional-hazards regression model analyses were used to investigate the influencing factors for PVT in patients with hepatitis B cirrhosis. Results The 191 patients in the combination group were followed up for 296.25 person-years in total, with a mean follow-up time of 1.55±0.65 years, and there were 8 patients with PVT, with an incidence rate of 4.19% and an incidence density of 1.41 per ten-thousand person-years. The 165 patients in the control group were followed up for 253.25 person-years in total, with a mean follow-up time of 1.53±0.67 years, and there were 20 patients with PVT, with an incidence rate of 12.12% and an incidence density of 4.79 per ten-thousand person-years. There was a significant difference in the incidence rate of PVT between the two groups ( χ 2 =7.687, P =0.006). The cumulative incidence rate of PVT plotted by the Kaplan-Meier method showed that the combination group had a significantly lower cumulative incidence rate of PVT than the control group ( χ 2 =7.226, P =0.007), with a relative risk of 3.155 (95% confidence interval [ CI ]: 1.351-7.370). The univariate Cox analysis showed that hypertension, alanine aminotransferase, aspartate aminotransferase (AST), albumin (Alb), cholinesterase, estimated glomerular filtration rate, alpha-fetoprotein, D-dimer (D-D), Child-Pugh class, and Ganshuang granule combined with entecavir were influencing factors for PVT (all P < 0.05); the multivariate Cox analysis showed that AST (hazard ratio [ HR ]=1.002, 95% CI : 1.000-1.004, P =0.025), and D-D ( HR =1.907, 95% CI : 1.554-2.338, P < 0.001) were independent risk factors for PVT in patients with hepatitis B cirrhosis, while Alb ( HR =0.844, 95% CI : 0.755-0.944, P =0.003) and Ganshuang granule combined with entecavir ( HR =0.350, 95% CI : 0.144-0.851, P =0.021) were independent protective factors against PVT in patients with hepatitis B cirrhosis. Conclusion Ganshuang granule combined with entecavir can significantly reduce the incidence rate of PVT in patients with hepatitis B cirrhosis, thereby exerting a certain preventive effect against PVT.