Glioma is a tumor with a high incidence of intracranial tumor. Because of its high degree of malignancy, strong invasiveness and high mortality, the current conventional treatment cannot achieve the desired therapeutic effect, which greatly affects the quality of life of patients. As a protein with the functions of anti-proliferation, anti-angiogenesis and anti-invasion, interferon is widely used in the treatment of all kinds of tumors in clinic. Many studies have shown that interferon plays an important role in the occurrence and development of gliomas. To explore the mechanism of interferon and its related signal pathway in the process of glioma invasion, and to study the new treatment of glioma is very necessary in clinical treatment.

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 observe the incidence of infection related complications after percutaneous nephrolithotripsy.Methods:One hundred and forty-two patients with renal calculi who were treated in the First Affiliated Hospital of Zhejiang University of Traditional Chinese Medicine from January 2017 to December 2018 were divided into control group (71 cases) and experimental group (71 cases) by random number method. Among them, the control group was treated with common sheath, the experimental group was treated with negative pressure lithotomy, and the patients were followed up for 1 year after the operation to count the recurrence. The patients in the two groups were compared in terms of perioperative indexes, intraoperative complication rate, postoperative complication rate, recurrence rate in 1 year′s follow-up and quality of life in 1 year′s follow-up.Results:The operation time in two groups had no significant difference ( P>0.05). The amount of bleeding in the experimental group was significantly higher than that in the control group [(12.15 ± 1.06) ml vs. (13.03 ± 1.17) ml], the length of hospitalization was significantly shorter than that in the control group [(5.13 ± 0.67) d vs. (6.02 ± 0.78) d], and the differences were statistically significant ( P<0.01). The incidence of intraoperative complications in two groups had no significant difference ( P>0.05). The incidence of postoperative complications in the experimental group was significantly lower than that in the control group [1.41%(1/71) vs. 11.27%(8/71)], the recurrence rate in the follow-up period of 1 year was significantly lower than that in the control group [1.14%(1/71) vs. 9.86%(7/71)], and the differences were statistically significant ( P<0.05). The scores of postoperative World Health Organization Quality of Life Questionaire BREF (WHOQOL-BREF) of the two groups had no significant difference ( P>0.05). At 1 year′s follow-up, the scores of WHOQOL-BREF in the experimental group were significantly higher than those in the control group ( P<0.01). Conclusions:With the help of vacuum lithotripsy in percutaneous nephrolithotripsy, but the incidence of postoperative complications can be significantly reduced, the length of stay can be shortened, the follow-up recurrence can be reduced, and the quality of life can be improved.

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 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

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 function of Notch-3 in epithelial-mesenchymal transition(EMT) and prognosis of pancreatic cancer patients.Methods Patients who received radical resection for pancreatic cancer in our hospital between January 2004 and October 2012 were included in this study.Immunohistochemical staining was performed with Notch-3,E-cadherin and Vimentin antibodies.Imaging pro plus 3.0 was used for analyzing the staining intensity.Survival analysis was performed using Kaplan-Meier method.Results Sixty-seven patients were included.Low expression of E-cadherin was detected in 61.2％ (41/67) of patients,while high expression of Vimentin and Notch-3 was found in 65.6％ (44/67) and 59.7％ (40/67),respectively.Notch-3 expression was proportional to Vimentin expression (R2 =0.872,P ＜ O.05),while inversely proportional to E-cadherin expression (R2 =0.570,P ＜ 0.05).Median overall survival time in high expression group of E-cadherin,Vimentin and Notch-3 was (25.2 ± 2.3) months,(14.8 ±0.9) months and (15.8 ±0.8) months.While in low expression group,the median overall survival time was (14.3 ± 1.0) months,(25.5 ± 2.4) months and (25.1 ± 2.9) months,respectively.There were significant differences between these two groups (all P ＜ 0.05).Conclusions Notch-3 expression was associated with EMT process in pancreatic cancer patients.Low expression of E-cadherin and high expression of Vimentin and Notch-3 predicated poor prognosis of pancreatic cancer.

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.