Objective To examine the expression of stromal cell-derived factor-1 (SDF-1) in a rat model of retinal ischemia-reperfusion injury (RIRI),and investigate the protective effect of 17β-Estradiol (E2) on RIRI and explore the mechanism.Methods The RIRI model was established in Sprague-Dawley rats by increasing the intraocular pressure.Relative expression levels of SDF-1 mRNA and protein in the retina at 6 hours,12 hours and 24 hours following reperfusion was determined by RT-PCR and Western blot,respectively.E2 was administered to investigate the effects of estrogen on SDF-1 expression,and the estrogen receptor antagonist ICI 182-780 was administered to investigate the effect of estrogen receptor on the expression of SDF-1.Results SDF-1 expression in RIRI 6 hours group,12 hours group and 24 hours group was increased compared with normal control group (all P ＜ 0.05),with maximum expression at RIRI 12 hours group.As expected,pretreatment of RIRI rats with E2 had a protection on RIRI retina;SDF-1 expression was increased in RIRI + E2 group compared with IR control group and RIRI + vehicle group (all P ＜ 0.05).RIRI + E2 + ICI 182-780 group could decrease SDF-1 expression compared with RIRI + E2 group(all P ＜ 0.05).Conclusion E2 offers protection against RIRI by inducing an up-regulation in SDF-1 expression through activation of the estrogen receptor.

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 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 explore the genetic basis for a child with mentally retardation.Methods G-banding karyotyping,single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were performed for the child.Karyotyping and FISH were also carried out for her parents.Results SNP-array has detected a 5077 kb microdeletion at 5q35.2q35.3 and a 4964 kb microduplication at 7q36.2q36.3 in the child.The results were confirmed by FISH.Based on above results,the father was subsequently found to carry a cryptic t(5;7)(q35.2;q36.2) translocation.The child was verified to have inherited a der(5) t(5;7) (q35.2;q36.2) from her father.Conclusion The 5077 kb microdeletion at 5q35.2q35.3 may have predisposed to the Sotos syndrome in the child.SNP-array combined with G-banding karyotyping and FISH can help to detect cryptic chromosomal translocations among patients.

Objective:To investigate the brain functional connectivity and network of patients with bipolar depression (BD) during emotion recognition, and to assess the correlation of brain functional indicators with clinical data.Methods:From August 2023 to September 2024, a total of 34 BD patients and 35 healthy controls were recruited for the study. The 17-item Hamilton depression scale(HAMD-17) and the Hamilton anxiety scale (HAMA) were used to assess the depression and anxiety symptoms of BD patients. While all the participants performed the emotion recognition task, a functional near-infrared spectroscopy (fNIRS) with 52 channels was utilized to collect their oxyhemoglobin concentrations in dorsolateral prefrontal cortex (DLPFC), medial prefrontal cortex (mPFC), and temporal lobe (TL). Brain functional indicators, including brain functional connectivity(BFC) and brain functional network (BFN) parameters, were extracted using fNIRS analysis algorithms. SPSS 26.0 software was used to perform t-test, Wilcoxon rank sum test, chi-square test, Pearson correlation and multiple linear regression analysis. Results:The emotion recognition accuracy of BD patients ((69.40±18.32) %) was lower than that of healthy controls ((76.94±6.09)%)( t=-2.13, P=0.036), and the average spending time ((4.00±1.78) s) of BD patients was longer than that of healthy controls ((2.69±1.27) s) ( t=-2.81, P=0.007). The BFC values of right DLPFC-right mPFC, right DLPFC-left TL, right DLPFC-left mPFC, right TL-right mPFC, right TL-left TL, right TL-left mPFC, right mPFC-left DLPFC, and right mPFC-left mPFC, the clustering coefficient, and small-world coefficient of BD patients were lower than those of healthy controls (all P<0.05).The characteristic path length of BD patients was higher than that of healthy controls ( t=1.27, P<0.05). For BD patients, the total score of HAMD-17 were significantly and negatively correlated with the clustering coefficient, small-world coefficients, and BFC values of right DLPFC-left mPFC and right mPFC-left DLPFC ( r=-0.45--0.27, all P<0.05).The total score of HAMA was significantly and positively correlated with the BFC value of right DLPFC-left mPFC ( r=0.30, P<0.05). The results of multiple linear regression analysis showed that the clustering coefficient ( β=-0.12, t=-0.69, P=0.009), small-world coefficients ( β=-0.22, t=-1.05, P=0.013), and BFC values of right DLPFC-left mPFC ( β=-0.47, t=-2.29, P=0.030) and right mPFC-left DLPFC( β=-0.20, t=-0.90, P=0.010) were influencing factors of depressive symptoms in BD patients. The BFC value of right DLPFC -left mPFC ( β=0.37, t=2.36, P=0.026) was influencing factor for anxiety symptoms in BD patients. Conclusions:There are abnormalities in some BFC values and BFN parameters in the DLPFC, mPFC, and TL brain regions during the emotional recognition task, which are related to the clinical symptoms. The abnormalities may be associated with the emotional recognition deficits in BD patients. These findings may provide theoretical guidance for the development of clinical intervention strategies for BD patients.

OBJECTIVE: To analyze clinical and genetic features of a family affected with Van der Woude syndrome. METHODS: The umbilical cord blood of the proband and the peripheral blood of the parents were used for the whole exon sequencing to find the candidate gene.Peripheral blood of 9 members of the family were collected for Sanger sequencing verification, bioinformatics analysis and genotype-phenotype correlation analysis. RESULTS: The proband was diagnosed with cleft lip and palate by ultrasound. His father and grandmother had hollow lower lip and all other family members did not have the similar phenotype. A missense c.263A>G (p.N88S) mutation was found in exon 4 of gene in the proband, his father and his grandmother.The mutation was not found in other family members. CONCLUSIONS A missense c.263A>G (p.N88S) mutation in gene probably underlies the pathogenesis of Van der Woude syndrome in the family and the mutation has been firstly discovered in China.
Abnormalities, Multiple ; genetics ; China ; Cleft Lip ; complications ; diagnostic imaging ; etiology ; genetics ; Cleft Palate ; complications ; diagnostic imaging ; etiology ; genetics ; Cysts ; complications ; genetics ; Female ; Humans ; Interferon Regulatory Factors ; genetics ; Lip ; abnormalities ; Male ; Mutation ; Pedigree ; Ultrasonography

There is a shared problem in current optical imaging technologies of how to obtain the optical parameters of biological tissues with complex profiles. In this work, an imaging system for obtaining the optical parameters of biological tissues with complex profile was presented. Firstly, Fourier transformation profilometry was used for obtaining the profile information of biological tissues, and then the difference of incident light intensity at different positions on biological tissue surface was corrected with the laws of illumination, and lastly the optical parameters of biological tissues were achieved with the spatial frequency domain imaging technique. Experimental results indicated the proposed imaging system could obtain the profile information and the optical parameters of biological tissues accurately and quickly. For the slab phantoms with height variation less than 30 mm and angle variation less than 40º, the maximum relative errors of the profile uncorrected optical parameters were 46.27% and 72.18%, while the maximum relative errors of the profile corrected optical parameters were 6.89% and 10.26%. Imaging experiments of a face-like phantom and a human's prefrontal lobe were performed respectively, which demonstrated the proposed imaging system possesses clinical application value for the achievement of the optical parameters of biological tissues with complex profiles. Besides, the proposed profile corrected method can be used to combine with the current optical imaging technologies to reduce the influence of the profile information of biological tissues on imaging quality.
Diagnostic Imaging ; Humans ; Light ; Optical Imaging ; Phantoms, Imaging

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 analyze the results of noninvasive prenatal screening (NIPS) for fetal chromosome aneuploidy in twin pregnancy. METHODS: A total of 2057 women with twin-pregnancy between 12-26 weeks were recruited from Women's Hospital, Zhejiang University School of Medicine, Hangzhou Municipal Women's Hospital and Jiaxing Maternal and Child Health Hospital during February 2015 to August 2018. The cell-free DNA was extracted from the peripheral blood sample for DNA library, and non-invasive prenatal testing (NIPT) was performed by high-throughput sequencing technique. The fetal karyotype analysis or neonatal karyotype analysis was performed in pregnant women with fetal chromosome aneuploidy, and all subjects were followed up. The efficiency of NIPS testing for twin aneuploidy was calculated. RESULTS: NIPS revealed chromosome abnormalities in 11 out of 2057 twin pregnant women, 9 cases were confirmed chromosome abnormalities, 2 cases were normal and no false negative cases. In this screening, the detection rate, sensitivity, specificity, positive predictive value, false positive rate of NIPS were 100.00%, 100.00%, 99.90%, 81.82%, 0.10%. Those were 100.00%, 100.00%, 99.95%, 87.50% and 0.05% for trisomy 21, 100.00%, 100.00%, 100.00%, 100.00%, 0.00% for trisomy18, and the specificity and false positive rate for trisomy13 were 99.95% and 0.05%, respectively. CONCLUSIONS NIPS can detect fetal chromosomal aneuploidy rapidly and accurately in twin pregnancies,and it is of value in clinical application.
Aneuploidy ; Female ; Humans ; Noninvasive Prenatal Testing ; standards ; Pregnancy ; Pregnancy, Twin ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Trisomy

OBJECTIVE: To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS). METHODS: The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing. RESULTS: The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a CONCLUSIONS The
Aborted Fetus/physiopathology* ; Adult ; Eyelashes/pathology* ; Female ; Forkhead Transcription Factors/genetics* ; Frameshift Mutation ; Humans ; Lymphedema/pathology* ; Male ; Phenotype ; Pregnancy ; Whole Exome Sequencing