BACKGROUND:The comfortable shoes can absorb or reduce the impact force from the ground. Is the damped system is absent in shoes to relieve the impulse,the feet will be extremely tired,even damage the human knee joint,waist,back and brain. OBJECTIVE:To measure the changes of human plantar pressure by different sole hardness through the measurement system of plantar pressure. DESIGN,TIME AND SETTING:An observation experiment was performed in the Shanghai University of Sport between December 2008 and February 2009.PARTICIPANTS:Six volunteers wearing the experimental designed shoes were recruited from Nanjing Institute of Physical Education.METHODS:Three pairs of experimental shoes weighing 103 g were measured with shore hardness tester,as 51,62 and 69 hardness values. Accordingly they were named soft shoes,medium hardness shoes and hard shoes. The subjects were asked to do a 60-minute walk test at the speed of 2 m/s on the running platform with the experimental designed shoes,and they were determined using the insole plantar pressure measurement system of German's Novel style series of Emed-pedar.MAIN OUTCOME MEASURE:The pressure,contact area and impulse in the sole of foot.RESULTS:With the increase in hardness soles,the pressure of center plantar was shown to move from the medial first metatarsal outwards by turns. Compared with barefoot walking,the trail length of the center plantar was prolonged in subjects with medium hardness shoes and hard shoes,while shortened in subjects with soft shoes. The total pressure when you walked with soft shoes and medium hardness shoes were reduced than barefoot walking,and the pressure of walking phase wearing these two types of shoes were also reduced,while total pressure and walking phase pressure with hard shoes were both increased compared with barefoot walking. The contact area was similar between soft shoes and medium hardness shoes,but the smallest in the hard shoes. Except the increase in the initial 10 minutes,the soft shoes had no change with the medium hardness shoes. The hard shoes were firstly increased but then declined. The total impulse of medium hardness shoes was the closest to bare feet,while that of soft shoes and hard shoes were increased compared with bare foot.CONCLUSION:The plantar pressure was the greatest in the hard shoes,then medium hardness shoes and last soft shoes;the contact area was the greatest in soft shoes,then medium hardness shoes and last hard shoes;the impulse was the greatest in hard shoes,then soft shoes,and last medium hardness shoes.

Objective: To explore the genetic basis for a fetus with Dandy-Walker malformation. Methods: G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents. Results: SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6; 14)(p25.1; p13) translocation, while the fetus has a der(6)t(6; 14)(p25.1; p13) derived the paternal translocation. Conclusion The der(6)t(6; 14)(p25.1; p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father’s cryptic balanced translocation.

Objective To investigate the effect of expression of Cullin 4B (CUL4B) on the prognosis of patients after liver transplantation for hepatocellular carcinoma (HCC).Methods The retrospective case-control study was conducted.The clinicopathological data of 79 patients who underwent liver transplantation for HCC in the First Affiliated Hospital of Sun Yat-sen University between January 1,2014 and June 30,2015 were collected.The specimens of HCC tissues were collected and embedded in paraffin,and then were detected by immunohistochemistry staining.Observation indicators:(1) expression of CUL4B in HCC tissues;(2) follow-up and survival;(3) prognostic factors analysis after liver transplantation;(4) association between expression of CUL4B and recurrence and metastasis of tumor after liver transplantation.Follow-up using outpatient examination and telephone interview was performed to detect tumor recurrence or metastasis and survival up to June 2018.Measurement data with normal distribution were represented as (x)±s.The comparison between groups of count data was done using the chi-square test.The survival curve drawn using the Kaplan-Meier method,and the survival analysis was done by Log-rank test.The univariate and multivariate analysis were respectively done using the COX regression model.The association analysis was done using the Pearson test.Results (1) Expression of CUL4B in HCC tissues:immunohistochemistry staining showed that CUL4B was mainly expressed in the cytoplasm,with a powerful brownish-yellow staining.The high expression and low expression of CUL4B in HCC tissues were detected in 64 and 15 patients,respectively.(2) Follow-up and survival:79 patients were followed up for 38-56 months,with an average time of 46 months.During the follow-up,37 patients had no tumor recurrence and 42 had tumor recurrence (32 with tumor extrahepatic metastasis and 10 with intrahepatic metastasis);36 had survival and 43 died;the 1-and 3-year overall survival rates were respectively 86.84％ and 63.25％,and 1-and 3-year tumorfree survival rates were respectively 62.31％ and 51.27％.(3) Prognostic factors analysis after liver transplantation:① Results of univariate analysis showed that preoperative alpha-fetoprotein (AFP),Child-Pugh score,maximum tumour dimension,capsular invasion,intravascular tumor thrombus,Edmonson pathological grading and expression of CUL4B were related factors affecting the 3-year overall survival rate of patients after liver transplantation for HCC [Hazard Ratio (HR) =2.17,3.36,3.66,2.43,2.19,3.36,2.84,95％ confidence interval(CI):1.17-4.04,1.53-7.42,2.10-6.42,1.33-4.17,1.08-9.04,1.58-7.59,1.17-6.32,P＜ 0.05].The preoperative alpha-fetoprotein (AFP),Child-Pugh score,maximum tumour dimension,capsular invasion,intravascular tumor thrombus,Edmonson pathological grading and expression of CUL4B were related factors affecting the 3-year tumor-free survival rate of patients after liver transplantation for HCC (HR =2.06,3.72,3.16,2.36,2.83,3.21,1.69,95％CI:1.34-4.85,1.72-8.63,1.79-7.31,1.46-4.86,1.19-8.63,1.19-7.92,1.06-4.87,P＜0.05).② Results of multivariate analysis showed that maximum tumour dimension,intravascular tumor thrombus and expression of CUL4B were independent factors affecting the 3-year overall survival rate of patients after liver transplantation for HCC [Odds ratio(OR) =3.43,3.69,2.81,95％CI:1.16-6.02,1.96-9.38,1.04-9.63,P＜0.05].The maximum tumour dimension,intravascular tumor thrombus and expression of CUL4B were independent factors affecting the 3-year tumor-free survival rate of patients after liver transplantation for HCC (OR=2.25,4.72,2.74,95％C1:1.16-4.02,1.98-9.47,1.03-7.10,P＜ 0.05).The 3-year overall survival rate in patients with high-and low-expressions of CUL4B was respectively 66.7％ and 32.8％,with a statistically significant difference (x2 =5.69,P＜0.05).The 3-year tumor-free survival rate in patients with high-and low-expressions of CUL4B was respectively 73.3％ and 18.6％,with a statistically significant difference (x2 =4.63,P＜0.05).(4) Association between expression of CUL4B and recurrence and metastasis of tumor after liver transplantation:results of Pearson test showed that expression of CUL4B was significantly associated with HCC recurrence and metastasis after liver transplantation (r =0.62,P＜0.05).The further analysis showed that expression of CUL4B was significantly associated with extrahepatic metastasis after liver transplantation (r=0.84,P ＜ 0.05).Conclusion The expression of CUL4B is associated with HCC recurrence after liver transplantation,and it can be as a predictor for HCC recurrence and distant metastasis after liver transplantation.

OBJECTIVE: To diagnose a fetus with Phelan-McDermid syndrome (PMS) using various techniques. METHODS: Single nucleotide polymorphism array (SNP Array), multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) were applied in conjunction for the prenatal diagnosis of the fetus. RESULTS: SNP Array detected a 4.03 Mb microdeletion at 22q13.31q13.33 in the fetus, which was confirmed by FISH and MLPA. FISH analysis of the parents suggested that the 22q13.31q13.33 deletion has a de novo origin. CONCLUSION Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.
Chromosome Deletion ; Chromosome Disorders ; diagnosis ; Chromosomes, Human, Pair 22 ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Pregnancy ; Prenatal Diagnosis

Objective: To study the change of STAT1 expression in the anterior cingulate cortex on rats under orthodontic force, and to further explore the roles of STAT1 and related JAK-STAT1 signaling pathway in the mediation and regulation of pain during tooth movement. Methods: 112 male Sprague-Dawley (SD) rats (225±25 g) were used in this study. They were randomly divided into experimental groups (96 rats) and control groups (16 rats). All rats were installed bilateral maxillary device for tooth movement models. Rats in the experimental groups were applied 80g orthodontic force on both sides and were divided into six subgroup 4 h, 12 h, 24 h, 2 d, 3 d, 7 d, with 16 rabbits in each subgroup. The control groups were only installed the same orthodontic devices, without the application of orthodontic force. Brain tissue of the anterior cingulate cortex was isolated after 4 h, 12 h, 24 h, 2 d, 3 d, 7 d since experiment, and the expression level of STAT1 and p-STAT1 was analyzed with the method of immunofluorescence and PCR. Results : For the immunofluorescence result, there was significant difference in STAT1 expression between control groups and different experimental groups at different time points in total (P < 0.05). The STAT1 expression amount in the 4 h group decreased significantly when compared with the control group (P < 0.05); to the 2 d group, the difference is still statistically significant (P < 0.01). 3 d group, 7 d group and control group had no statistically significant difference. The STAT1 expression amount in 4 h group, 12 h group, 24 h group was significantly lower than that in 3 d and 7 d groups, differences were statistically significant (P < 0.05). The STAT1 expression in the 2 d group was significantly lower than that of 7 d (42.35 ± 5.77) group, the difference was statistically significant (P < 0.05). There was significant difference in p-STAT1 expression between control groups and different experimental groups at different time points in total (F = 623.518, P < 0.05). The p-STAT1 expression amount in experimental groups were higher than that in the control group (P < 0.05). The p-STAT1 expression in 4 h group was lower than that in 12 h and 24 h group and higher than that in 2 d, 3 d and 7 d groups, of which the differences were statistically significant (P < 0.05). The p-STAT1 expression in 12 h group was lower than that in 24 h group and higher than that in 2 d, 3 d and 7 d groups, of which the differences were statistically significant (P < 0.05). For the PCR result, the expression of mRNA in STAT1 of experimental groups of 4 h, 12 h, 24 h, 2 d, 3 d, 7 d and the control groups were not statistically significant (P > 0.05). Conclusions After applying orthodontic force, the expression of STAT1 decreased transiently and the expression of p-STAT1 increased transiently. The reduction of STAT1 was probably caused by the phosphorylation of STAT1 and decrease in the translation level of STAT1, rather than changes in the transcriptional levels. The orthodontic pain might be related with the activation of STAT1 into phosphorylated STAT1.

OBJECTIVETo assess the clinical application of single nucleotide polymorphism (SNP)-array in detecting abnormal chromosome karyotypes of chorionic villi from early spontaneous abortuses.

METHODSA total of 861 chorionic villus samples from unexplained early spontaneous abortion were collected from Women's Hospital, Zhejiang University School of Medicine during October 2013 and June 2016, and SNP-array was performed to detect genome-wide DNA copy number variants.

RESULTSAll samples were successfully tested by SNP-array and 440 cases (51.10%) were found to have abnormal chromosome constitutions. Aneuploidy was identified in 358 (41.58%) cases, distributing in all chromosomes except chromosome 1. Triploidy and haploidy were found in 21 (2.44%) and one case (0.12%), respectively. Thirty-seven cases (4.30%) were identified as single chromosomal segment deletion or duplication, 25 of which were less than 10 Mb in size. For 6 of 25 cases with unclear pathogenesis, family studies were carried out to identify origin of deletion or duplication, showing that 4 cases were de novo and 2 were inherited from one of the parents. Twenty-three cases (2.67%) showed two chromosomal deletion/duplication segments. Combining with karyotyping and fluorescencehybridization, 6 cases were identified as de novo aberration and 11 carried small-size segmental balanced abnormality.

CONCLUSIONSSNP-array can provide a relatively comprehensive genetic analysis of chorionic villi and can detect various kinds of chromosome abnormalities in spontaneous miscarriages.

OBJECTIVE: To assess the clinical application of single nucleotide polymorphism microarray (SNP array) in patients with intellectual disability/developmental delay(ID/DD). METHODS: SNP array was performed to detect genome-wide DNA copy number variants (CNVs) for 145 patients with ID/DD in Women's Hospital, Zhejiang University School of Medicine from January 2013 to June 2018. The CNVs were analyzed by CHAS software and related databases. RESULTS: Among 145 patients, pathogenic chromosomal abnormalities were detected in 32 cases, including 26 cases of pathogenic CNVs and 6 cases of likely pathogenic CNVs. Meanwhile, 18 cases of uncertain clinical significance and 14 cases of likely benign were identified, no significant abnormalities were found in 81 cases (including benign). CONCLUSIONS SNP array is effective for detecting chromosomal abnormalities in patients with ID/DD with high efficiency and resolution.
Chromosome Aberrations ; DNA Copy Number Variations ; Genome-Wide Association Study ; Humans ; Intellectual Disability ; diagnosis ; genetics ; Oligonucleotide Array Sequence Analysis ; standards ; Polymorphism, Single Nucleotide

OBJECTIVE: To assess the clinical application of single nucleotide polymorphism microarray (SNP array) in prenatal genetic diagnosis for fetuses with absent nasal bone. METHODS: Seventy four fetuses with absent nasal bone detected by prenatal ultrasound scanning were recruited from Women's Hospital, Zhejiang University School of Medicine during June 2015 and October 2018. The chromosome karyotypes analysis and SNP array were performed. The correlation between absent fetal nasal bone and chromosome copy number variants was analyzed. RESULTS: Among 74 fetuses, 19 were detected to have chromosomal abnormalities, including 16 cases of trisomy-21, 1 case of trisomy-18 and two cases of micro-deletion/duplication. Among 46 cases with isolated absence of nasal bone, 3 had trisomy-21, and 1 had a micro-duplication. Absence of nasal bone in association with nuchal translucency thickening had a higher rate of abnormal karyotypes compared with isolated absence of nasal bone (=32.27,<0.01). CONCLUSIONS Fetuses with absent nasal bone and nuchal translucency thickening are likely to have chromosome abnormalities, and SNP array testing is recommended to exclude the chromosome abnormalities.
Chromosome Aberrations ; Female ; Fetus ; Humans ; Nasal Bone ; abnormalities ; Oligonucleotide Array Sequence Analysis ; standards ; Polymorphism, Single Nucleotide ; genetics ; Pregnancy ; Pregnancy Trimester, First ; Prenatal Diagnosis ; methods

OBJECTIVE: To conduct genetic analysis in a fetus with complex translocation of four chromosomes. METHODS: G-banded chromosome karyotype analysis, single nucleotide polymorphism array (SNP array) and fluorescence hybridization (FISH) were performed in a fetus with multiple malformations. Peripheral blood chromosome karyotype and FISH were also carried out for the parents. RESULTS: The fetal amniotic fluid karyotype was 46, XY, t(12; 13)(q22; q32). SNP array analysis showed that there were 20 192 kb duplication at 1q42.13q44 and 13 293 kb deletion at 15q26.1q26.3 in the fetus. The results of karyotype and SNP array were inconsistent. FISH analyses on the parental peripheral blood samples demonstrated that the mother was a cryptic 46, XX, t(1; 15)(q42.1; q26.1) translocation. The fetus had inherited 46, XY, t(12; 13)(q22; q32) from his father and der(15)t(1; 15)(q42.1; q26.1) from his mother. CONCLUSIONS The 1q42.13q44 duplication and 15q26.1q26.3 deletion may have contributed to the abnormal sonographic features of the fetus. The combination of cytogenetic, SNP array and FISH techniques was beneficial for providing an accurate genetic counseling.
Chromosome Aberrations ; Female ; Fetus ; abnormalities ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Polymorphism, Single Nucleotide ; Translocation, Genetic