Clinical and molecular genetic study of a Chinese Han family with X-linked retinoschisis / 中华实验眼科杂志

Objective:To study the clinical phenotype and molecular genetic characteristics of a Chinese Han family with X-linked retinoschisis (XLRS), and to determine the associated gene variations.Methods:A pedigree investigation was performed.The clinical characteristics and pedigree analysis of a Han Chinese family line with XLRS was conducted in August 2021 at the Xiamen Eye Center Affiliated to Xiamen University.All patients and the carriers underwent comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, non-contact tonometer, slit lamp microscope, direct ophthalmoscope, and optical coherence tomography.The proband and some patients underwent medical optometry, fundus photography or wide-angle fundus photography, and electroretinogram examination.Peripheral venous blood samples were collected from the family members, and whole exome sequencing (WES) analysis was performed on the proband samples.For variants screened by WES, the expanded verification in other patients and normal persons in the family was carried out by Sanger sequencing.Multiple bioinformatic tools were used to analyze the pathogenicity of variants.This study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.XMYKZX-KY-2021-012). Written informed consent forms were obtained from each subject or guardian of minors.CADD, FATHMM and other bioinformatics tools were used to analyze the pathogenicity of the variation sites.Results:The Han XLRS pedigree consisted of 8 individuals in 3 generations.Out of the 3 cases diagnosed with XLRS based on clinical evaluation, all were male.The mother of the proband was a carrier of related genes.There were 5 persons with normal phenotypes.There was no history of consanguineous marriages within the family, and the disease was shown to be intergenerational, which is consistent with the recessive inheritance of the X chromosome.None of the patients had a history of systemic disease or any other abnormal manifestations.The prevailing feature of ophthalmopathy was poor binocular vision since childhood.The proband and his younger brother had spoke split in the macula, and their grandfather showed atrophy of retinal nerve fibers.Genetic analysis revealed a hemizygous variation c. 214G>C: p.Glu72Gln in the RS1 gene in all the patients in this family.The proband's mother was heterozygous at this site, and all other phenotypically normal family members exhibited wild type at this site.This variant was predicted to be a deleterious variation and likely to cause disease based on bioinformatics analysis. Conclusions:The proband and patients in this Han Chinese family have the known c. 214G>C: p.Glu72Gln hemizygous variation of the RS1 gene and exhibit mild XLRS, which was consistent with the recessive inheritance of X chromosome.

Effect of naringenin on the anti-inflammatory, vascularization, and osteogenesis differentiation of human periodontal ligament stem cells via the stromal cell-derived factor 1/C-X-C motif chemokine receptor 4 signaling axis stimulated by lipopolysaccharide / 华西口腔医学杂志

OBJECTIVES@#This study aimed to investigate how naringenin (Nar) affected the anti-inflammatory, vascula-rization, and osteogenesis differentiation of human periodontal ligament stem cells (hPDLSCs) stimulated by lipopolysaccharide (LPS) and to preliminarily explore the underlying mechanism.@*METHODS@#Cell-counting kit-8 (CCK8), cell scratch test, and Transwell assay were used to investigate the proliferation and migratory capabilities of hPDLSCs. Alkaline phosphatase (ALP) staining, alizarin red staining, lumen-formation assay, enzyme-linked immunosorbent assay, quantitative timed polymerase chain reaction, and Western blot were used to measure the expression of osteopontin (OPN), Runt-related transcription factor 2 (RUNX2), vascular endothlial growth factor (VEGF), basic fibroblast growth factor (bFGF), von Willebrand factor (vWF), tumor necrosis factor-α (TNF-α), and interleukin (IL)-6.@*RESULTS@#We observed that 10 μmol/L Nar could attenuate the inflammatory response of hPDLSCs stimulated by 10 μg/mL LPS and promoted their proliferation, migration, and vascularization differentiation. Furthermore, 0.1 μmol/L Nar could effectively restore the osteogenic differentiation of inflammatory hPDLSCs. The effects of Nar's anti-inflammatory and promotion of osteogenic differentiation significantly decreased and inflammatory vascularization differentiation increased after adding AMD3100 (a specific CXCR4 inhibitor).@*CONCLUSIONS@#Nar demonstrated the ability to promote the anti-inflammatory, vascularization, and osteogenic effects of hPDLSCs stimulated by LPS, and the ability was associated with the stromal cell-derived factor/C-X-C motif chemokine receptor 4 signaling axis.

Clinical and molecular genetics research of a Chinese Han family with Wagner syndrome / 中华实验眼科杂志

Objective:To explore the clinical features and pathogenic causes of a Chinese Han family with Wagner syndrome, and to analyze the relationship between VCAN gene mutation and patient phenotype. Methods:The method of family pedigree investigation was adopted.A Chinese Han family with Wagner syndrome in 3 generations including 13 family members was collected in Xiamen Eye Center of Xiamen University in January 2020, and 5 patients from 3 generations were diagnosed.All members underwent a comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, intraocular pressure, slit lamp microscopy, and ophthalmoscopy to analyze the condition of anterior segment and fundus.Anterior segment photography, fundus photography, optical coherence tomography and ultrasound biological microscopy were carried out in the proband and some patients to analyze the condition of anterior segment, fundus and anterior chamber angle.The peripheral venous blood of all family members was collected for genomic DNA extraction, and pathogenic gene variation analysis for verification was through high-throughput target region capture sequencing and Sanger sequencing.Variants were scored using the American College of Medical Genetics and Genomics (ACMG) guidelines, and the structure and function of variants were predicted through PredictProtein.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.MR-35-22-002800).Written informed consent was obtained from each subject.Results:The Chinese pedigree with Wagner syndrome was in accordance with autosomal dominant inheritance pattern, and all patients had no history of systemic disease or other abnormal manifestations.The common ophthalmic features of the patients were abnormal suspensory ligament, premature cataract, vitreous cavity, vitreous condensation, veil-like proliferative membrane in the vitreous cavity, retinal choroid atrophy and thinning, tractional retinal detachment, and retinal pigmentation.The proband had binocular cataract surgery, and binocular intraocular lens dislocation occurred after the operation.Genetic analysis revealed that a heterozygous splice site variation c.9265+ 1G>A in the VCAN gene in this family was co-segregated with the disease phenotype and graded as a likely pathogenic variant by the ACMG guidelines.This variant base pair substitution could cause the formation of a protein product with 1 754 amino acids shorter, resulting in insufficient haploid dosage and severe reduction of glycosaminoglycan attachment sites, making the versican protein dysfunctional. Conclusions:It is the first time to report a Chinese family with Wagner syndrome in China, and it is confirmed that the family has a heterozygous variation in the VCAN gene c.9265+ 1G>A by molecular genetic analysis.

Comparison of efficacy between intravitreal injection of conbercept with and without macular photocoagulation for diabetic macular edema / 中华实验眼科杂志

Objective:To compare the clinical efficiency and safety between intravitreal injection of conbercept with and without macular photocoagulation for diabetic macular edema (DME).Methods:A non-random controlled study was conducted.Sixty patients (60 eyes) with DME treated in Shenzhen People's Hospital from January 2017 to January 2020 were enrolled.The patients receiving intravitreal injection of conbercept alone were divided into conbercept injection group (33 cases, 33 eyes), and those who underwent macular photocoagulation combined with intravitreal injection of conbercept were divided into combined treatment group (27 cases, 27 eyes). Best corrected visual acuity (BCVA) was examined using Early Treatment of Diabetic Retinopathy Study.The BCVA, central macular thickness (CMT) and fluorescein fundus angiography (FFA) examination were performed to observe the changes of macular edema and leakage area before and at 1, 3, 6, 9 and 12 months after treatment.The injection frequency, ocular and systemic complications were recorded.This study protocol adhered to the Declaration of Helsinki and was approved by an Ethics Committee of Shenzhen Pepole's Hospital (No.LL-YK-20170405). Written informed consent was obtained from each patient prior to any medical examination.Results:There were better mean BCVA and lower CMT at 1, 3, 6, 9 and 12 months after treatment compared with the BCVA and CMT before treatment in the two groups (all at P<0.05). At 12 months after treatment, FFA showed that the improvement rate of macular edema was 91.0% (30/33) in the conbercept injection group and 96.3% (26/27) in the combined treatment group, showing a statistically significant difference between them ( χ2=3.430, P<0.05). The injection frequency was (4.36±1.62) times in the conbercept injection group, which was significantly higher than (3.41±0.64) times in the combined treatment group ( t=9.211, P<0.05). No ocular adverse events, including ocular hypertension, endophthalmitis and retinal pigment epithelial tears or systemic complications were found during the follow-up. Conclusions:Intravitreal injection of conbercept with or without macular photocoagulation can both maintain or improve visual acuity and alleviate exudative macular edema.They both show good safety, and the combined therapy has better long-term efficacy than conbercept alone.

The impact of lymph node dissection on survival in patients with clinical early-stage ovarian cancer / 부인종양

Objective@#To estimate the impact of lymph node dissection on survival in patients with apparent early-stage epithelial ovarian cancer (EOC). @*Methods@#We conducted a retrospective review of patients with clinical stage I–II EOC. All patients underwent primary surgery at Sun Yat-sen University Cancer Center between January 2003 and December 2015. Demographic features and clinicopathological information as well as perioperative adverse events were investigated, and survival analyses were performed. @*Results@#A total of 400 ovarian cancer patients were enrolled, and patients were divided into 2 groups: 81 patients did not undergo lymph node resection (group A), and 319 patients underwent lymph node dissection (group B). In group B, the median number of removed nodes per patient was 25 (21 pelvic and 4 para-aortic nodes). In groups A and B, respectively, the 5-year progression-free survival (PFS) rates were 83.3% and 82.1% (p=0.305), and the 5-year overall survival (OS) rates were 93.1% and 90.9% (p=0.645). The recurrence rate in the retroperitoneal lymph nodes was not associated with lymph node dissection (p=0.121).The median operating time was markedly longer in group B than in group A (220 minutes vs. 155 minutes, p<0.001), and group B had a significantly higher incidence of lymph cysts at discharge (32.9% vs. 0.0%, p<0.001). @*Conclusion@#In patients with early-stage ovarian cancer, lymph node dissection was not associated with a gain in OS or PFS and was associated with an increased incidence of perioperative adverse events.

DNMT1 protein promotes retinoblastoma proliferation by silencing MEG3 gene / 南方医科大学学报

OBJECTIVE@#To investigate whether DNMT1 protein induces retinoblastoma proliferation by silencing MEG3 gene.@*METHODS@#Two retinoblastoma cell lines (HXO-RB44 and SO-RB50) and a normal human retinal pigment epithelial (RPE) cell line were transfected with the plasmid pcDNA-DNMT1 or si-DNMT1 for up-regulating or interference of DNMT1 expression, and with pcDNA-MEG3 or si-MEG3 for up-regulating or interference of MEG3 expression. Western blotting was used to detect the changes in the expression of DNMT1 protein in the transfected cells, and CCK-8 and EdU assays were used to detect the changes in cell proliferation. Real-time quantitative PCR (qRT-PCR) was performed to detect MEG3 expression in SO-RB50 and HXO-RB44 cells after transfection, and the methylation level of MEG3 gene promoter after interference of DNMT1 expression was detected using methylation-specific PCR.@*RESULTS@#SO-RB50 and HXO-RB44 cells showed significantly increased expression of DNMT1 protein as compared with normal RPE cells ( < 0.05). In HXO-RB44 cells, transfection with pcDNADNMT1 resulted in significantly increased expression of DNMT1 protein, enhanced cell proliferation ability, and significantly reduced expression of MEG3 ( < 0.05). In SO-RB50 cells, transfection with si-DNMT1 significantly reduced the expression of DNMT1 protein, suppressed the cell proliferation, and increased MEG3 expression ( < 0.05). Interference of DNMT1 significantly reduced the methylation level of MEG3 gene promoter. After reversing the regulatory effect of DNMT1 on MEG3 gene, DNMT1 protein showed significantly weakened ability to regulate retinoblastoma cell proliferation ( < 0.05).@*CONCLUSIONS@#In retinoblastoma cells, the up-regulation of DNMT1 protein induces promoter methylation and inactivation of MEG3 gene and eventually leads to abnormal cell proliferation.

Clinical observation of budesonide and azithromycin combined with terbutaline in the treatment of children with acute bronchitis / 中国生化药物杂志

Objective To discuss the clinical effect of the treatment of acute bronchitis in children with the treatment of children with the treatment of children with acute bronchitis. Methods 50 patients with pediatric acute bronchitis from January 2013 to January 2016 were selected,and randomly divided into observation group and control group,25 cases in each groups.The control group with azithromycin treatment, the observation group with cloth to Ned + archie LeiSu + terbutaline therapy; To two groups of patients with detailed record and analysis of the experimental data, discussed the budesonide, azithromycin combined terbutaline clinical effect for the treatment of infantile acute bronchitis. Results After treatment,the observation group (budesonide + archie LeiSu + terbutaline) clinical curative effect is better than that of control group (azithromycin) clinical curative effect, clinical symptoms improved situation is better than that of control group, compare the difference between groups was statistically significant (P<0.05). Conclusion Children with acute bronchitis choose budesonide + archie LeiSu + terbutaline combined treatment effect significantly, can effectively improve clinical symptoms in a short time, is widely used in clinical treatment of children with acute bronchitis.

Effects of Lactobacillus fermentum on the Inhibition of Cytoxan on Human Colorectal Cancer HCT116 Cells / 中国药房

OBJECTIVE:To study the effects of Lactobacillus fermentum(Lb-f)on inhibition of cytoxan(CTX) on HCT116 cells of human colorectal cancer in vitro and in vivo. METHODS:HCT116 cells were cultured in vitro. MTT assay was used to in-vestigate the effects of 4,2,1μg/ml CTX and combined with 10μg/ml Lb-f on the survival rate of HCT116 cells. HCT116 cell xe-nograft tumor nude mice model was induced to investigate the effects of 100,50,25 mg/kg CTX and combined with 180 mg/kg Lb-f on tumor volume,tumor weight,relative tumor inhibition rate,the sensitization effect of chemotherapy (by q value),the number of peripheral blood leucocyte and platelet. RESULTS:Compared with CTX alone,CTX combined with Lb-f had no signifi-cant effect on survival rate of HCT116,relative inhibition rate of tumor volume in nude mice, relative inhibition rate of tumor weight and q value (P>0.05),but increased the number of peripheral blood leucocyte and platelet (P<0.05). CONCLUSIONS:No synergistic effects of Lb-f is found on the inhibition of CTX on the growth of HCT116 in vitro and in vivo;Lb-f can inhibit the decrease of peripheral blood leucocyte and platelet of HCT116 cell xenograft tumor nude mice induced by CTX.

Investigation for anti-tumor effects of CIK cells induced by TLR7 agonist instead of IFN-γ / 中国免疫学杂志

Objective:To investigate the immune effects of CIK cells induced by Toll like receptor 7 agonist (Tlr7a) instead of IFN-γon killing lymphoma cells in vitro .Methods: Mononuclear cells were isolated from healthy human peripheral blood .CIK were induced by Tlr7a in vitro instead of IFN-γ.Two groups were divided as follows:CIK group,Tlr7a-CIK group.Then the main investigation on immune effects included immune phenotype was detected respectively , and cytotoxicity of the effectors was analyzed .Results: In Tlr7a-CIK group,the amount of CD56+cells was more than CIK group (P<0.05),and the cytotoxicity was also stronger (P<0.05). Conclusion:Tlr7a instead of IFN-γcould promote the immune effects of CIK cells on killing tumor cells in vitro .

The influence of combined spinal epidurai analgesia on the level of T lymphocyte subsets in maternity sera in labor / 中国医师杂志

ObjectiveTo investigate the effect of combined spinal epidural analgesia (CSEA) on immune function by observing the changed level of T lymphocyte subsets in maternity sera in labor.MethodsFifty healthy primipara with single birth,vertex present and ASA I between July 2007 and Dec 2007 at the first Affiliated Hospital of Nangchang University,who were in spontaneous labor,were randomly divided into two subgroups when their rerviral dilations were in 2～3 cm.In interfering subgroup( n =25),the puncture point of CSEA was at L3-4 interspace,the fentanyl (20 μg) was used in lumbar anesthesia,the ropivaraine (0.1％) rombined with fentanyl (2 μg/ml) was used in epidural analgesia.Blood samples were taken from the mother vein at cervical dilation in 2 ～ 3 m (T1),fetal disengagement(T2),24 hrs after childbirth ( T3 ).Flow cytometry was used to measure T lymphocyte subsets,Radioimmunoassay (RIA) was used to measure cortisol.In addition,Data on labor progress,VAS score,and neonatal Apgar score were recorded for each patient.Results(1)The active phase in the first stage of labor after analgesia in the CSEA group [ ( 177.64 ± 67.98 ) min ] was significantly lower than that in control group [ (219.40 ± 67.37) min ].No significant difference was found for the active phase in the second stage and the third stage,and for the neonatal Apgar score between the CSEA group [ (32.92 ± 11.59 ) min,( 7.56 ± 2.47 )min,9.20 ± 0.82,respectively ] and the control group [ ( 31.44 ± 13.93 ) min,( 7.28 ± 2.25 ) min,8.84± 1.31,respectively ].(2)The level of cortisol in A group [ ( 548.11 ± 75.67) ng/ml ] was significantly lower than that in C group[ (789.32±96.07) ng/ml] at T2.(3) In two groups,the levels of the CD3+,CD4+,CD4+/CD8 + degraded in different degree at each point,more significantly decreased at T3,and these in C group[ (48.43 ± 6.46) ％,( 31.35 ± 8.93 ) ％,(0.96 ± 0.21 ) ％,respectively ] were significantly lower than those in A group [ (52.3 ± 5.62 ) ％,( 36.90 ± 7.91 ) ％,( 1.16 ± 0.25 ) ％,respectively ].ConclusionsCSEA could shorten the active delivery phase in the first stage of labor,and did not affect the neonatal Apgar score.It can alleviate the inhibitory effect of pain stress response on the immune function.

Determination of 50％ and 95％ effective dose for butorphanol inhibition uterine contraction pain on analgesic artificial abortion / 中国医师进修杂志

ObjectiveTo determine the dose of butorphanol at which 50％ and 95％ effective dose (ED50 and ED95) of patients inhibition uterine contraction pain on analgesic artificial abortion.Methods Twenty-six patients undergoing analgesic artificial abortion were sequentially given different doses butorphanol so that the ED50 and ED95 could be determined by up-and-down sequential test.Anesthetic depth was observed when giving propofol with 200 mg/min speed,uterine contraction pain at awaking immediately,10,20 min after awaleing.Data was analyzed by Probit regression analysis for calculating ED50 and ED95..ResultsButorphanol could restrain uterine contraction pain on analgesic artificial abortion and the ED50 was 246 μg with the 95％ confidence interval of 201 μg to 281 μg,the ED95 was 324 μg with the 95％ confidence interval of 287 μg to 548 μg.ConclusionED50 and ED95 value can be expected as a parameter to optimize analgesic artificial abortion.

Fresh amniotic membrane transplantation for recurrent pterygium / 中国基层医药

Objective To explore the efficacy of excision of pterygium combined with fresh amniotic membrane transplantation for treatment of recurrent pterygium.Methods Pteryga of 27 patients(32 eyes) were excised and transplanted with fresh amniotic membrane.Patients were followed up for 6～36 months.Results Pterygium recurred in only 2 eyes during the period of follow-up.The curative rate of the operation for recurrent pterygium was 93.75%,and the recurrence rate was 6.25%.Conclusion Excision of pterygium combined with fresh amniotic membrane transplantation is an effective therapeutic method for recurrent pterygium.

Effect of Health Education and Supportive Therapy on Neuroses / 中国临床心理学杂志

Objective: To explore the effect of health education and supportive therapy on neuroses. Methods: Fifty six subjects were assigned into two groups according to the sequence of hospitalization. Both groups received the same drug treatment, average dosage: in experiment group fluoxetine 20～30mg/d (9 cases), Amitriptyline 75～150mg/d(8 case), Alprazolam 1.6～ 2.8mg/d(13 cases), received the health education and supportive therapy for 38 to 60 days in addition to drug treatment. In control group, fluoxetine 20～30mg/d(11 case), Amitriptyline 75～200mg/d(5 cases), Alprazolam 1.2～2.8mg/d(10 cases) were used. The Symptom Checklist 90 was used for assessment before and after treatment and cure rate was evaluated by clinical standard at discharge in both groups. Results: Cure rate was higher in the experimental group (94%) than control group (71%, P<0.05). The total score of the Symptom Checklist 90 and main factors were lower in the experimental group than the control group (P<0.01). Conclussion: Early health education and supportive therapy can improve the treatment outcome of patients with neuroses.

COMPARISON OF SUPPRESSIVE EFFECT BETWEEN THE LOW MOLECULAR WEIGHT NATURAL TUMOR SUPPRESSOR OF HUMAN FETAL HEPATOCYTE AND THAT OF EMBRYO CALF HEPATOCYTE ON THE GROWTH OF MURINE S- 180 CELLS / 肿瘤研究与临床

Objective:Effect of the low molecular weight natural tumor suppressor (LMW NTS) of human fetal hepatocyte and that of embryo calf hepatocyte on the growth of murine S 180 cells was observed.Methods:LMW NTS was isolated respectively from human fetal hepatocyte and embryo calf hepatocyte.(1)In vitro two layers agar plate culture method was used to detect the suppressive effect of the human fetal hepatocyte LMW NTS and the emtryo calf hepatocyte LMW NTS on the growth of murine S 180 cells.(2)Surviral of the mice bearing S 180 cells and treated respectively with intraperitoneal injections of the human fetal hepatocyte LMW NTS or the embryo calf hepatocyte LMW NTS(0.5 mg/one mouse/day for 21 days)was surveyed.Results:Both the human fetal hepatocyte LMW NTS and the embryo calf hepatocyte LMW NTS can obviously inhibit the growth of murine S 180 cell,and the suppressive effect was enhanced while the concentration of LMW NTS was increased.Survival of the mice bearing tumor that treated with intraperitoneal injections of the human fetal hepatocyte LMW NTS or the embryo calf hepatocyte LMW NTS was remarkably prolonged.Conclusion:The LMW NTS of embryo calf hepatocyte is similar to that of human fetal hepatocyte,and it possesses marked anti tumor activity both in vitro and in vivo.

Effect of heterogenic corneal stroma transplantation on peripheral T cells of rats / 中国病理生理杂志

0.05), the expression of CD4+ was increased in rabbit corneal stroma (P