Analysis of genetic variant in a fetus featuring pontocerebellar hypoplasia type 6 / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles.@*METHODS@#The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both parents were collected for the extraction of genomic DNA, which was then subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasonography showed increased nuchal translucency (0.4 cm) and widened lateral ventricles. Magnetic resonance imaging revealed infratentorial brain dysplasia. By DNA sequencing, the fetus was found to carry compound heterozygous variants c.1A>G and c.1564G>A of the RARS2 gene, which were inherited from its father and mother, respectively. Among these, c.1A>G was known to be pathogenic, but the pathogenicity of c.1564G>A was unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.1564G>A variant of RARS2 gene was predicted to be likely pathogenic(PM2+PM3+PP3+PP4).@*CONCLUSION@#The compound heterozygous variants c.1A>G and c.1564G>A of RARS2 gene contributed to the fetus suffering from pontocerebellar hypoplasia type 6, which expanded variant spectrum of RARS2 gene.

Comparison between case management and group work on rehabilitation effects in discharged schizophrenia patients / 上海预防医学

Objective:To compare the intervention effect of Case Management and Group Work in discharged schizophrenic patients. Methods:A total of 100 patients with stable schizophrenia who were discharged from a mental health center in a district of Shanghai were randomly divided into two groups： case management （CM） and group work （GW）， with 50 patients each. The group work method and case management model were used， respectively， to provide psychiatric symptom assessment，medication guidance，functional training，health education and other services to for 6 months. Both Positive and Negative Syndrome Scale （PANSS） and Social Disability Screening Schedule （SDSS） were used for assessment at the beginning and at the end of 6th month. The conditions and the improvement of social function of these two groups were compared. Results:Before and after the intervention，the positive symptom score，negative symptom score and PANSS total score of the CM group were decreased，the difference was statistically significant（t=4.214，3.926，3.929，P<0.001）. The PANSS score of the GW group only had significant difference before and after the general pathology and the total score（t=2.195，2.466，P<0.05）.There were significant differences in SDSS scores between these two groups before and after the intervention（P＜0.001）. There was a significant difference in the reduction rate of positive symptom score between the two groups（z=-2.937，P<0.05）. There was also a significant difference in the reduction rate of SDSS scores（z=-3.834，P<0.001）. Conclusion:Both case management and group work can stabilize the condition of schizophrenia patients and improve social function，but there is a slight difference in the emphasis of the two methods.

Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS).@*METHODS@#Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Suspected variant was validated by Sanger sequencing. Western blotting was used to detect changes in protein expression.@*RESULTS@#The proband and his mother were both found to carry a heterozygous nonsense variant c.177C>G (p.Tyr59X) of the FOXC2 gene, which was previously unreported. Down-regulated expression of FOXC2 was detected by Western blotting. Prenatal ultrasonography of the fetus indicated increased nuchal thickness. Amniocentesis was performed at 21+1 weeks of pregnancy, genetic testing suggested that the fetus also carried the c.177C>G variant.@*CONCLUSION@#The patients' condition may be attributed to the heterozygous nonsense variant c.177C>G of the FOXC2 gene, which resulted in a significant decrease in FOXC2 expression. Increased nuchal thickness may also be related with decreased FOXC2 expression. Above finding has expanded the variant spectrum of the FOXC2 gene.

Feasibility of application of umbilical cord blood autologous transfusion in intrapartum and neonatal surgery / 中国实用妇科与产科杂志

OBJECTIVE: To investigate the feasibility of the application of autologous umbilical cord blood transfusion in intrapartum neonatal surgery.METHODS: From August 2008 to December 2018,15 cases of birth defects diagnosed in Shengjing Hospital affiliated to China Medical University who had received prenatal or neonatal surgery and had cord blood retained for autologous transfusion were selected.Routine biochemical tests were performed on the retained cord blood and the peripheral blood of the children before transfusion,follow-up was conducted on the postoperative infants with autologous blood transfusion,and blood routine tests and other relevant postoperative indicators,such as length of hospital stay and duration of intravenous nutrition support,were tested.RESULTS: Comparing the routine blood test of umbilical cord blood of the fetuses with that of the peripheral blood of neonates,there was no obvious statistical difference in the number of red cells[(4.15 ± 0.35)× 1012/L,(4.39 ± 0.31)× 1012/L,P=0.069],erythrocyte deposited[0.4749±0.047,0.5072±0.0367,P=0.052],thenumberofhemoglobin[(156.67±13.28)g/L,(166.47±13.73)g/L,1012/L,P=0.391].No adverse reactions were observed after umbilical cord blood transfusion.After transfusion,hemoglobin reached the predetermined indexes,and no second transfusion was performed.CONCLUSION: The index of autologous umbilical cord blood is basically the same as that of neonatal peripheral blood,and it is simple,easy and cheap,which avoids the adverse reaction of allogeneic adult blood transfusion;there was no adverse prognosis.Therefore,it can be used for neonatal blood transfusion preparation.

Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the molecular basis for three pedigrees affected with hypophosphatemia vitamin D resistant rickets (X-linked hypophosphatemia, XLH).</p><p><b>METHODS</b>Peripheral blood samples from the three pedigrees were collected. Following DNA extraction, the 11 exons and flanking regions of the PHEX gene were subjected to PCR amplification and direct sequencing. Pathogenicity of identified mutations was evaluated through genotype-phenotype correlation.</p><p><b>RESULTS</b>For pedigrees 1 and 2, pathogenic mutations were respectively identified in exon 8 (c.871C>T, p.R291X) and exon 15 (c.1601C>T, p.P534L) of the PHEX gene. For pedigree 3, a novel mutation (c.1234delA, p.S412Vfs*12) was found in exon 11 of the PHEX gene, which caused shift the reading frame and premature termination of protein translation.</p><p><b>CONCLUSION</b>The three mutations probably account for the XLH in the affected pedigrees. The discovery of novel mutations has enriched the spectrum of PHEX gene mutations.</p>

Clinical study of the characteristics of lymph node metastasis in thoracic esophageal cancer / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To explore the characteristics of lymph node metastasis in thoracic esophageal cancer in order to provide evidence for the extent of lymph node dissection and the operation access.</p><p><b>METHODS</b>A retrospective study was performed on the specimens of 72 patients who underwent radical operation of right transthoracic approach and the features of lymph node metastasis were explored.</p><p><b>RESULTS</b>Lymph node metastases were found in 48 of 72 patients (66.7%). In 1495 lymph nodes dissected, metastases was identified in 181 lymph nodes (12.1%). The rate of lymph node metastasis in the right and left recurrent laryngeal nerve was 30.6% and 12.5% respectively. Lymph node metastasis was associated with tumor size and tumor invasion depth (both P<0.05), while tumor location and differentiation of tumor cells were not significant (both P>0.05).</p><p><b>CONCLUSIONS</b>The lymph node metastasis in thoracic esophageal carcinoma can be easily found in the right recurrent laryngeal nerve. The best surgical approach of thoracic esophageal carcinoma is the right transthoracic approach.</p>

Effect of berberine, liensinine and neferine on HERG channel expression / 中国中药杂志

<p><b>OBJECTIVE</b>Immunofluorescence and Western blot methods were adopted for qualitative and quantitative detections of the effect of different concentrations of berberine, liensinine and neferine on the expression of stable transfection in HERG potassium channel in HEK-293 cells, as well as the effect of different concentrations of berberine on protein expression of Ikr channel in cardiac muscular tissues, in order to investigate the anti-arrhythmic mechanism of berberine, liensinine and neferine.</p><p><b>METHOD</b>Western blot method was used to detect protein expression of HERG channel in HERG-HEK cells. Immunofluorescence method as well as confocal laser microscope were used to detect the effect of different concentrations of berberine, liensinine and neferine on protein expression of HERG channel. Western blot method was used to detect the effect of different concentrations of berberine on protein expression of Ikr channel in cardiac muscular tissues as well as the effect of berberine, liensinine and neferine on protein expression of stable transfection in HERG potassium channel in HEK-293 cells.</p><p><b>RESULT</b>Western blot experiment manifested that stable transfection of HEK293 cells containing HERG genes could increase protein expression of HERG channel. Berberine (10, 30 micromol x L(-1)) remarkably inhibited protein expression of HERG channel in HERG-HEK cells (P < 0.01). Berberine (10, 20 mg x kg(-1)) also inhibited protein expression of Ikr channel in rat ventricular tissues (P < 0.05). Liensinine (3, 10, 30 micromol x L(-1)) increased protein expression of HERG channel in HERG-HEK cells (P < 0.05). Neferine showed no effect on protein expression of HERG channel in HERG-HEK cells.</p><p><b>CONCLUSION</b>The stably transfection of HERG-HEK cells can increase protein expression of HERG channel. Berberine shows inhibitory effect on protein expressions of in vitro HERG-HEK cells and Ikr channel in rat ventricular tissues. Liensinine improves protein expression of HERG channe in HERG-HEK cells. Neferine shows no effect on protein expression of HERG channel.</p>

Correlation of serum levels of VEGF and SDF-1 with the number and function of circulating EPCs in children with cyanotic congenital heart disease / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To examine the number and function of circulating endothelial progenitor cells (EPCs) in children with cyanotic congenital heart diseases (CHD) and study their correlation with serum levels of vascular endothelial growth factor (VEGF) and stromal cell derived factor-1 (SDF-1).</p><p><b>METHODS</b>Fifteen children with tetralogy of Fallot (cyanotic group) and 15 age-and sex-matched children with ventricular septal defect (control group) were enrolled. Serum levels of VEGF and SDF-1 were measured using ELISA. Mononuclear cells were isolated from peripheral blood by Ficoll density gradient centrifugation and cultured in vitro. EPCs were identified by immunofluorescence and were counted under a microscope. Modified Boyden chamber assay and the MTT assay were used to measure the migration and proliferation capacities of EPCs. EPCs adhesion ability assay was performed by replating cells on fibronectin-coated dishes, and then adherent cells were counted. The correlations of serum levels of VEGF and SDF-1 with the number and function of circulating EPCs were assessed by linear regression analysis.</p><p><b>RESULTS</b>Serum levels of VEGF (201.42+/-44.74 ng/L vs 113.56+/-35.62 ng/L; P<0.05) and SDF-1 (3.45+/-1.07 ng/L vs 1.05+/-0.99 ng/L; P<0.05) in the cyanotic group were higher than those in the control group. There was a positive correlation between serum levels of VEGF and SDF-1(r=0.675, P<0.01). The number of EPCs (*200 field) in the cyanotic group significantly increased compared with that of the control group (72.2+/-9.73 vs 51.2+/-3.83; P<0.01). The functional activities of EPCs, including proliferation, migration and adhesion capacities, were augmented in the cyanotic group compared with those in the control group. The increased number and function of EPCs and the increased serum levels of VEGF and SDF-1 were consistent in the cyanotic group, with a correlation coefficient of 0.8395, 0.5491, 0.6376 and 0.7392 respectively.</p><p><b>CONCLUSIONS</b>The number and functional activity of EPCs as well as serum levels of VEGF and SDF-1 increased in children with cyanotic CHD. Serum levels of VEGF and SDF-1 were correlated to the number and functional activity of EPCs. Serum VEGF and SDF-1 together with circulating EPCs may play important roles in the pathology and physiology in these patients.</p>

Effect of decellular treatment on the framework of extracellular matrix in bovine jugular vein conduit / 中南大学学报(医学版)

OBJECTIVE@#To investigate the effect of decellular treatment on the framework constituents of extracellular matrix and tissue stability in bovine jugular vein conduit (BJVC), and to provide an evidence for tissue engineering of vascular prosthesis.@*METHODS@#Bovine jugular veins were obtained fresh from a local slaughterhouse and were stored in chilled PBS. In the laboratory, any fat and loose connective tissue on the outer surface of the vessel was trimmed. BJVCs were decellularized by a 3-step extraction method as detergent Triton X-100 (0.5%), Trypsin (0.025%) EDTA (0.02%), and DNase I(30kU/L) RNaseA(0.3g/L). Histological and transmission electron microscopy (TEM) techniques were used to study the framework constituents of extracellular matrix of treated the examples, and fresh tissues were used as controls. Tissue contents of hydroxyproline(alkaline hydrolysis method) and elastin (Fastin Elastin Assay) were assayed respectively in the fresh and decellularized groups (n=10). The vascular wall heat shrinking temperature and mechanical strength were measured to evaluate the tissue stability (n=10).@*RESULTS@#Histochemical and TEM analysis of BJVCs treated with decellularization proved a complete removal of nuclear and other cell components. Tissue collagen was well kept,but elastin was partly lessened. Tissue content of hydroxyproline increased comparatively [(25.73+/-2.97)mg/g vs. (29.25+/-2.99)mg/g, P<0.05] and the elastin content obviously decreased [(159.71+/-21.06)mg/g vs. (134.91+/-35.40)mg/g, P<0.05] in the decellular treatment group compared with the control group. The heat shrinking temperature and tensile stress of decelluarized tissue were lower than those of the fresh tissue[(72.50+/-0.53) degrees C vs. (69.75+/-0.54)degrees C ,P<0.05], [(5.19+/-0.65)MPa vs. (3.13+/-0.94)MPa, P<0.05].@*CONCLUSION@#The basic framework of extracellular matrix in the decellularized BJVC is partly damaged and tissue stability is reduced. Decellularized BJVC should be further crosslinked before being used as a tissue engineering scaffold for clinical pulmonary artery graft.

NEUROTROPHIC EFFECT OF ENSHEATHING CELLS ON GABAERGIC NEURONS in vitro / 解剖学报

Objective The purpose of the present study is to illustrate the effect of olfactory ensheathing cells(OECs) on the survival and neurite outgrowth of GABAergic neurons in vitro. Methods OECs were dissociated from olfactory bulb and neurons from spinal cord of E12 mouse. On the sixth day in vitro,the Millipore cultue blank with OECs was transferred to the neuron culture mediam and continue the co-culture for another 6 days.The cultured neurons were stained with anti-GABA antibody.The neurite of neurons was observed with an image system.The number of GABAergic positive neurons was counted under the microscope. Result The number of GABAergic neurons was 39