ABSTRACT
Objective:To detect the expression of MYBL2 gene in gastric adenocarcinoma tissue and its effects on cell proliferation and invasion. Methods:A total of 100 cases of gastric adenocarcinoma tissue and 100 cases of paracancerous tissue were selected from patients who received surgery in The People's Hospital of Yuhuan between January 2017 and December 2020. Gastric adenocarcinoma cell lines MGC-803 were transfected with MYBL2 siRNA and siRNA control. The cells not transfected were used as controls. MYBL2 gene expression in gastric adenocarcinoma tissue and paracancerous tissue as well as MGC-803 were determined by quantitative real time-polymerase chain reaction. MGC-803 cell proliferation was determined by MTT. The invasive ability of MGC-803 cells was determined by Transwell assay. The migration ability of MGC-803 cells was determined by Scratch testing. MYBL2 protein expression in gastric adenocarcinoma tissue and paracancerous tissue as well as MGC-803 cells was determined by western blotting. Results:The relative mRNA expression of MYBL2 in gastric adenocarcinoma tissue was significantly higher than that in paracancerous tissue [(0.65 ± 0.17) vs. (0.18 ± 0.05), t = 26.52, P < 0.05). The relative mRNA expression of MYBL2 in the MYBL2 siRNA group (0.29 ± 0.07) was significantly lower than that in the control group (0.73 ± 0.12) and siRNA group (0.71 ± 0.16, t = 5.48, 4.16, both P < 0.05). MTT assay showed that after 24 and 48 hours of culture, MGC-803 cell proliferation rate in the MYBL2 siRNA group [(40.95 ± 5.46)%, (52.12 ± 12.27)%] was significantly lower than that in the control group [(67.84 ± 6.45)%, (87.83 ± 9.96)%] and siRNA group [(66.98 ± 7.85)%, (85.98 ± 10.24)%, t = 5.51, 3.91, 4.71, 3.67, all P < 0.05]. MGC-803 cell invasion rate in the MYBL2 siRNA group [ (62.12 ± 6.43)%] was significantly lower than that in the control group [(89.74 ± 6.56)%] and siRNA group [(88.83 ± 7.85)%, t = 5.20, 4.55, both P < 0.05]. The number of MGC-803 cells migrated in the MYBL2 siRNA group [(4.32 ± 0.84) × 10 3] was significantly lower than that in the control group [(8.95 ± 1.64) × 10 3] and siRNA group [(8.83 ± 1.78) × 10 3, t = 4.35, 3.96, both P < 0.05]. The gray value of MYBL2 protein in the gastric adenocarcinoma tissue was (0.56 ± 0.15), which was significantly higher than that in the paracancerous tissue [(0.23 ± 0.07), t = 19.93, P < 0.001]. The gray value of MYBL2 protein in the MYBL2 siRNA group was (0.21 ± 0.03), which was significantly lower than that in the control group (0.67 ± 0.15) and siRNA group (0.65 ± 0.19) ( t = 5.20, 3.96, both P < 0.05). Conclusion:MYBL2 gene is highly expressed in gastric adenocarcinoma tissue. siRNA silencing MYBL2 can decrease the ability of MGC-803 cells to proliferate, invade and migrate and downregulate MYBL2 expression. This study is highly innovative and scientific.
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a child with idiopathic mental retardation.@*METHODS@#Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS).@*RESULTS@#No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c.722delA (p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation-27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance.@*CONCLUSION@#A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.
Subject(s)
Child , Humans , Comparative Genomic Hybridization , High-Throughput Nucleotide Sequencing , Homozygote , Intellectual Disability , Genetics , Proteins , GeneticsABSTRACT
Objective:To explore the value of prenatal MRI in the diagnosis of isolated mild and moderate bilateral ventriculomegaly and neural development of the fetuses after birth.Methods:This is a retrospective study involving 244 singleton fetuses with isolated mild or moderate lateral ventriculomegaly diagnosed by both prenatal ultrasound and MRI in Huzhou Maternity & Child Health Care from May 2013 to June 2017, consisting of 82 cases with bilateral ventriculomegaly (BVM) and 162 with unilateral ventriculomegaly (UVM). The two groups were further divided into two subgroups: mild (lateral ventricle width: 10.0-12.0 mm, bilateral 56 cases, unilateral 120 cases) and moderate group (lateral ventricle width: >12.0-<15.0 mm, bilateral 26 cases, unilateral 42 cases). In addition, 50 singleton fetuses without any abnormality in the nervous system in prenatal check were included in the control group during the same period. All neonates were reexamined by ultrasound within one week after birth, and followed up regularly at the age of 3, 6, 12 and 18 months. Gesell Development Schedules (GDS) were used to evaluate the central nervous system's function, and postnatal changes in lateral ventriculomegaly were observed. Statistical analysis was performed by t, F, Chi-square tests (or Fisher's exact test). Results:(1) There was no difference among intervals between MRI scan and delivery in the BVM, UVM, and the control groups. The disappearance rate of lateral ventriculomegaly after birth was 80.4% (45/56) in the mild BVM group, 42.3% (11/26) in the moderate BVM group, 88.3% (106/120) in the mild UVM group, and 57.1% (24/42) in the moderate UVM group ( χ2=35.183, P<0.001). (2) The GDS evaluation results in the BVM group at 6, 12, and 18 months after birth were worse than those in the UVM group (all P<0.0167). The GDS evaluation results in the BVM group were worse than those in the control group at 3 and 6 months after birth [3 months: normal: 58.5% (48/82) vs 86.0% (43/50), borderline: 22.0% (18/82) vs 10.0% (5/50), delay: 19.5% (16/82) vs 4.0% (2/50), χ2=11.425; 6 months: normal: 63.4% (52/82) vs 88.0% (44/50), borderline: 19.5% (16/82) vs 8.0% (4/50), delay: 17.1% (14/82) vs 4.0% (2/50), χ2=9.678; all P<0.0167]. (3) The GDS evaluation results in the moderate BVM group at 6, 12, and 18 months after birth were worse than those in the moderate UVM group [6 months: normal: 30.8% (8/26) vs 69.0% (29/42), borderline: 30.8% (8/26) vs 21.4% (9/42), delay: 38.5% (10/26) vs 9.5% (4/42), χ2=11.417; 12 months: normal: 53.8% (14/26) vs 88.1% (37/42), borderline: 23.1% (6/26) vs 9.5% (4/42), delay: 23.1% (6/26) vs 2.4% (1/42), χ2=11.199; 18 months: normal: 65.4% (17/26) vs 95.2% (40/42), borderline: 15.4% (4/26) vs 2.4% (1/42), delay: 19.2% (5/26) vs 2.4% (1/42), χ2=10.568; all P<0.0167]. The GDS evaluation results of the moderate BVM group at 3, 6, 12, and 18 months after birth were worse than the control group. (4) In the BVM group, the GDS scores at 18 months of age were better than those at three months of age ( χ2=8.224, P=0.016). Conclusions:(1) Most mild BVM would disappear spontaneously after birth, while more in mild UVM cases. (2) The postnatal GDS evaluation results of the BVM group is significantly worse than that of the UBM group at months of age; (3) Fetuses with less severe isolated BVM are more likely to have improved GDS score after birth.
ABSTRACT
Objective@#To explore the genetic basis of a child with idiopathic mental retardation.@*Methods@#Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS).@*Results@#No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c. 722delA(p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation - 27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance.@*Conclusion@#A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.
ABSTRACT
Objective@#To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders.@*Methods@#Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing.@*Results@#The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c. 3842T>G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies.@*Conclusion@#A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.
ABSTRACT
OBJECTIVE@#To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders.@*METHODS@#Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing.@*RESULTS@#The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c.3842T to G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies.@*CONCLUSION@#A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.
Subject(s)
Child, Preschool , Humans , Infant , Male , Developmental Disabilities , Genetics , Epilepsy , Genetics , Intellectual Disability , Genetics , Mutation , Nerve Tissue Proteins , Genetics , Nuclear Proteins , Genetics , SeizuresABSTRACT
Objective To explore the value of prenatal MRI in the diagnosis of fetal simple expansion of lateral ventricle(ventriculomegaly), and follow up the nervous system development status after birth. Methods Simple expansion of the lateral ventricle fetus by prenatal MRI examination were collected in Huzhou Maternal and Child Care Hospital from May 2013 to June 2015, 126 cases of live births in expansion group, 50 normal cases were recruited in the same period as the control group. In expansion group, fetal subgroup analysis was done:(1) unilateral or bilateral lateral ventricle expasion:one group was 98 cases was lateral ventricle expansion (77.8%, 98/126), expansion of bilateral ventricle group was 28 cases (22.2%, 28/126). (2) Prenatal MRI in the diagnosis of the lateral ventricle of expansion: expansion of the lateral ventricle width was greater than 10.0 mm, if both sides were expanding, the expand width was the heavier one side, divided into 3 subgroups: ①Expansion in group A (lateral ventricle width 10.0-12.0 mm) were 88 cases (69.8%, 88/126).②Expansion in group B (lateral ventricle width 12.1-15.0 mm) were 29 cases (23.0%, 29/126). ③Expansion of group C (lateral ventricle width> 15.0 mm) were 9 cases (7.12%, 9/126). All 176 cases were followed up after birth at the 3rd, 6th, 12th, 18th month (corrected age was used for premature babies), and Gesell developmental schedules (GDS) were used to evaluate the neurobehavioral development. Results (1) The MRI results after birth:21 cases were followed up by MRI after birth. In group A, 11 cases had MRI and 9 were normal (the ventricular width0.05). (3) The GDS results among the subgroups:in each evaluation after birth, there were no statistically significant differences between group A and the control group (all P>0.05). The GDS results of group B at the 3rd and 6th month were lower than those of the control group (P0.05). And for group C, statistically significant differences were found compared to the control group at each follow-up time (all P0.05). But when the result at the 3rd month was compared to the results of the 12th or 18th month, the differences were statistically significant (P0.05). There was no statistically significant difference between the results at the 12th and 18th month (P>0.05). (5) The GDS results in unilateral and bilateral ventricle expansion:at the 18th month, among the 98 unilateral cases, 86 (87.8%, 86/98) had normal GDS results(>85 scores);8 (8.2%, 8/98) had borderline results (75-85 scores);4 (4.1%, 4/98) had delayed results (0.05). Conclusions Among the simple expansion of lateral ventricle, those whose ventricular width are≤12.0 mm may not need clinical treatment. If the width is between 12.1 to 15.0 mm, closely follow-up and targeted rehabilitation training after birth are recommended. When the width is more than 15.0 mm, the risk of the central nervous system function delay is significantly increased, and early intervention might improve the prognosis.
ABSTRACT
Objective:To study the expression of caveolin-1 in colorectal adenocarcinoma tissues and its correlation with microlymphatic vessel density (LMVD), and to investigate the clinical pathological prognostic significance of caveolin-1 and LMVD in patients with colorectal cancer.Methods:The expression of caveolin-1 and LMVD in 45 specimens of normal colorectal tissues, and 90 specimens of colorectal adenocarcinoma tissues were detected by immunohistochemistry technique. The correlation between their expression and the clinicopathologic features was analyzed. Muhivariable Cox regression was used to analyze the association between the laboratory indices and overall survival time.Results:The positive rates of caveolin-1 in colorectal adenocarcinoma tissues were significantly higher than those in normal colorectal tissues (P<0.01). LMVD in colorectal adenocarcinoma tissues were significantly higher than those in normal colorectal tissues (P<0.01). Mean LMVD in group with caveolin-1 positive was significantly higher than in that with caveolin-1 negative. The median survival time was 26.7 months. Cox regression analysis showed that the caveolin-1 expression, invation depth, lymph nodemetastasis, TNM stage, liver metastasis and LMVD were independent risk factors of overall survival time of patients with colorectal carcinoma. Conclusions:Caveolin-1 may contribute to the lymphangiogenesis in the tumor. During the occurrence and development of colorectal adenocarcinoma, there is a close relationship between the expression of caveolin-1 and lymphatic microvessel of tumor. Caveolin-1 expression and microlymphatic vessel density are significant prognostic value of colorectal carcinoma.
ABSTRACT
Protein disulfide isomerase (PDI) is one of thiol-disulfide oxidoreductases that mainly located in the endo?plasmic reticulum (ER). It is generally known that PDI caralyzes the formation,rearrangement,breakage of disulfide bonds, and this enzyme is effective in regulation of protein folding. Now it is also known as a biomarker of cardiovascular disease. Protein disulfide isomerase can reduce infarct size and myocardial apoptosis in acute myocardial infarction (AMI). PDI can also improve changes of cardiac vulnerability in diabetic cardiomyopathy (DCM). Further more, it is also shown that PDI play an important role in hypertension and thrombosis. Therefore, this paper review the effects of protein disulfide isomerase in cardiovascular diseases.
ABSTRACT
This article was aimed to study the pharmacokinetics of mussaenoside in rats. Gardenoside was used as the internal standard in the content determination of mussaenoside in rat plasma with HPLC. The chromatographic conditions were Diamonsil C18 (2) column (150 mm í 4.6 mm, 5 μm), mobile phase of methanol:0.5% glacial acetic acid (30:70), flow amount of 1.0 ml/min, detection wavelength at 238 nm, column temperature at 30℃. Compartment model fitting of average plasma concentration in rats - time data had been conducted after mussaenoside was given to mice through single intravenous injection with the help of DAS 2.0 pharmacokinetics intelligence analysis software. The results showed that the plasma concentration using 2-comparment model intravenous injection calculation method, which corresponded well to that of actually measured (weighting of 1), was proved superior to other models. The distribution half-life time (t1/2α) was 9.892 min and the elimination half-life time (t1/2β) was 55.384 min. It was concluded that the established method was convenient, accurate and stable, which can be used for the study on phar-macokinetics of mussaenoside. Mussaenoside was distributed rapidly in the body of rats. The main process of mus-saenoside in the body of rats was elimination. The metabolic rate was at moderate speed.
ABSTRACT
Objective To analyze the emergency-event in patients with obstructive sleep apnea-hypopnea syndrome( OSAHS), and to discuss the risk factors and preliminary strategies for prevention of emergency-event. Method A total of 257 OSAHS patients in Zhejiang Provincial Peoples Hospital, were enrolled from January 2000 to December 2009 for the retrospective study. Demographics of patients include age, sex,height, weight, related diseases, AHI and LSaO2 before operation , the way of anesthesia and operation,when and how the emergency-events happened, the way to cure and the results. Risk facts of emergency-event were analyzed by using univariate analysis and multiple logistic regression analysis. Results Of the 257patients, the incidents of emergency-event was 7.3%. The independent risk factors of emergency-event were general anesthesia, multiple level surgery in one time, BMI and AHI. Performing CPAP treatment before operation had a beneficial effect to the avoidance of emergency-event. Conclusions Emergency-event are more common in severe OSAHS patients, especially when they were operated under general anesthesia and multiple level surgery in one time. Performing CPAP treatment before operation had a beneficial effect to the avoidance of emergency-event.
ABSTRACT
<p><b>OBJECTIVE</b>To explore the hematopoietic and immunologic reconstitution and transplantation-related complications of HLA one locus mismatched unrelated umbilical cord blood transplantation for the treatment of hematological malignancies.</p><p><b>METHODS</b>Two children with acute lymphoblastic leukemia received HLA-mismatched unrelated umbilical cord blood transplantation. The conditioning regimens were BU-CTX (case 1) and BU-CTX plus BCNU (case 2). GVHD prophylaxis regimen consisted of cyclosporine (CsA) and mycophenolate mofetil (MMF). The patients received 14.6 x 10(7) nucleated cells/kg with 7.24 x 10(5) CD(34)(+) cells/kg and 16.24 x 10(7) nucleated cells/kg with 21.11 x 10(5) CD(34)(+) cells/kg, respectively.</p><p><b>RESULTS</b>The two recipients, ANC > 0.5 x 10(9)/L occurred at day 27 and day 17, BPC > 50 x 10(9)/L at day 53 and day 46, the peripheral blood counts normalization at day 60 and day 52, the immune function normalization at day 134 and day 122 and the DNA fingerprinting showing engraftment at day 19 and day 17, respectively. The donor-recipient pair of case 1 was male to female, and the chromosome karyotype of recipients bone marrow and peripheral blood cells showed 100%, 46, XY cells at day 49. Grade II acute graft versus host disease (aGVHD) occurred at day 26 (case 1) and day 21 (case 2). The two recipients have survived for 353 days and 256 days.</p><p><b>CONCLUSION</b>The hematopoietic and immunologic reconstitution in umbilical cord blood transplantation were earlier and more durable. The transplantation-related complications were less and aGVHD were milder.</p>