Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia.@*METHODS@#Peripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#The 40-day-old infant had presented with vomiting brown matter in a 7 days neonate and was transferred for kidney failure. Clinical examination has discovered renal failure, polycystic renal dysplasia, congenital hypothyroidism, bilateral thumb polydactyly, sensorineural hearing loss and preauricular dermatophyte. Genetic testing revealed that he has harbored a previously unreported c.824delT, p.L275Yfs*10 frameshift variant of SALL1 gene, which was confirmed by Sanger sequencing as de novo.@*CONCLUSION@#The patient was diagnosed with Townes-Brocks syndrome due to the novel de novo variant of SALL1 gene. Townes-Brocks syndrome without anal atresia is rare. Above finding has also enriched the mutational spectrum of the SALL1 gene.

Effects of standardized treatment combined with medical nutrition intervention on blood glucose level, body mass management and glucose metabolism at 3 months after delivery in patients with gestational diabetes mellitus / 中国基层医药

Objective:To investigate the effects of standardized treatment combined with medical nutrition intervention on blood glucose level, body mass management and glucose metabolism at 3 months postpartum in patients with gestational diabetes mellitus (GDM).Methods:A total of 114 patients with GDM who received treatment in Shunyi District Hospital of Beijing from June 2017 to October 2019 were included in this study. They were randomly divided into observation group ( n = 57) and control group ( n = 57). The control group was treated with standardized therapy, and the observation group was treated with standardized therapy combined with medical nutrition intervention. Blood glucose level, body mass management, glucose metabolism outcomes at 3 months postpartum, pregnancy outcome, and neonatal outcome were compared between the two groups. Results:After treatment, hemoglobin A1c (HbA1c), fasting blood glucose, 2-hour plasma glucose (2hPG) after breakfast, and 2hPG after dinner in the observation group were (5.20 ± 0.34)%, (4.69 ± 0.31) mmol/L, (7.32 ± 2.13) mmol/L, and (7.54 ± 2.36) mmol/L, respectively, which were significantly lower than those in the control group [(6.38 ± 0.42)%, (6.34 ± 0.45) mmol/L, (9.01 ± 2.27) mmol/L, (9.35 ± 2.47) mmol/L, t = 16.48, 22.79, 4.09, 4.00, all P < 0.001]. The increases in body mass and body mass index during pregnancy in the observation groups were (12.19 ± 2.35) kg and (4.52 ± 1.13) kg/m 2, respectively, which were significantly lower than those in the control group [(16.21 ± 2.64) kg, (6.11 ± 1.25) kg/m 2, t = 8.58, 7.12, both P < 0.001]. The abnormal rate of glucose metabolism at 3 months postpartum in the observation group was significantly lower than that in the control group [5.3% (3/57) vs. 8.8% (5/57), χ2 = 0.53, P = 0.462]. The incidences of premature rupture of membranes, polyhydramnios, and cesarean section in the observation group were 5.3% (3/57), 14.0% (8/57) and 15.8% (9/57), which were significantly lower than those in the control group [22.8% (13/57), 35.1% (20/57), 40.4% (23/57), χ2 = 7.27, 6.81, 8.51, all P < 0.05]. There were no significant differences in the incidences of pregnancy-induced hypertension and postpartum hemorrhage between the two groups (both P > 0.05). The incidences of premature births, macrosomia, respiratory distress, neonatal hypoglycemia and hyperbilirubinemia in the observation groups were 5.3% (3/57), 3.5% (2/57), 7.0% (4/57), 3.5% (2/57), 5.3% (3/57), respectively, which were significantly lower than those in the control group [22.8% (13/57), 17.5% (10/57), 21.1% (12/57), 15.8% (9/57), 19.3% (11/57), χ2 = 7.27, 5.96, 5.60, 4.93, 5.21, all P < 0.05). Conclusion:Standardized treatment combined with medical nutrition intervention can effectively reduce blood glucose level in patients with GMD, control body mass, and improve glucose metabolism at 3 months after delivery.

Correlation between total burden of cerebral small vessel disease and outcomes in large artery atherosclerotic stroke / 国际脑血管病杂志

Objective To investigate the relationship between the total burden of cerebral small vessel disease (CSVD) and the outcomes in patients with large artery atherosclerotic (LAA) stroke.Methods From June 2016 to January 2018,patients with LAA stroke treated at the Department of Neurology,the Affiliated Hospital of Qingdao University were enrolled retrospectively.The overall burden of CSVD was evaluated according to MRI findings.The National Institute of Health Stroke Scale (NIHSS) was used to evaluate theseverity of stroke.The modified Rankin scale (mRS) was used to evaluate the outcomes at day 90 after the onset.The mRS score 0-2 was defined as good outcome,and ＞2 was defined as poor outcome.Results A total of 148 patients with LAA stroke were enrolled,including good outcome in 72 (48.65％) and poor outcome in 76 (51.35％).There were significant differences in the proportions of hypertension (69.44％ vs.85.52％;x2 =5.519,P =0.019),taking antihypertensive drugs before the onset (48.61％ vs.69.74％;x2 =6.845,P =0.009),white matter hyperintensity (18.06％ vs.39.47％;x2 =8.228,P =0.004),enlarged perivascular space (33.33％ vs.60.53％;x2 =10.968,P =0.001),as well as the baseline NIHSS scores (3.00 [2.00-4.00] vs.7.0 [5.0-10.0];Z =-8.159,P =0.001),baseline systolic blood pressure (149.40± 15.80mmHgvs.157.21± 14.05mmHg;t=3.180,P=0.002;1 mmHg=0.133 kPa),fasting glucose (5.91 ±2.06 mmol/L vs.6.92 ±2.65 mmol/L;t =2.595,P =0.010),and the proportions of total CSVD scores 0,1,2,3,and 4 (Z =-4.927,P =0.001) between the 2 groups.After adjustment for the confounding factors,such as hypertension and fasting glucose,multivariate regression analysis showed that the total CSVD score (odds ratio 4.457,95％ confidence interval 1.768-11.236;P =0.002) and baseline NIHSS score (odds ratio 2.070,95％ confidence interval 1.580-2.710;P ＜ 0.001)were the independent risk factors for the poor outcomes in patients with LAA stroke.Conclusions The total CSVD burden was closely associated with the outcomes in patients with LAA stroke.Higher CSVD total score and baseline NIHSS scores were independently associated with the poor outcome at 90 d in patients with LAA stroke.

Perioperative nursing care of patients with pernicious placenta previa and placenta accreta treated with temporary ballon occlusion of the abdominal aorta / 中国实用护理杂志

Objective To study the nursing effect of temporary ballon occlusion of the abdominal aorta in the treatment of pernicious placenta previa and placenta accrete. Methods Nursing points and experience of 126 cases of pernicious placenta previa and placenta accreta using temporary ballon occlusion of the abdominal aorta to prevent intraoperative bleeding in caesarean section were retrospectively summarized. This paper introduced the method, safety and superiority of the way of temporary ballon occlusion of the abdominal aorta, and the method of nursing care of patients with temporary ballon occlusion of the abdominal aorta, and the methods of the observation and prevention of postoperative bleeding and the nursing of pain. Results Totally 126 patients successfully achieved hemostasis, no hysterectomy occurred. Conclusions Through effective nursing of temporary ballon occlusion of the abdominal aorta in the treatment of pernicious placenta previa and placenta accrete, the postpartum hemorrhage, blood transfusion and the risk of hysterectomy can be reduced.

Circle of Willis variants and white matter lesions / 国际脑血管病杂志

Circle of Willis is the most important intracranial collateral circulation system,it has many types of variation.Circle of Willis variants reduce intracranial blood perfusion and increase the risks of ischemic cerebrovascular diseases and white matter lesions.White matter lesions are white matter damage caused by a variety of causes.With the wide application of neuroimaging technology,the detection rate of white matter lesions is significantly higher,and it is closely associated with the ischemic cerebrovascular disease.This article reviews the correlation between circle of Willis variants and white matter lesions.

Tongluo Xingnao Effervescent Tablets ameliorates cognitive function of SAMP8 mice via Nampt/SIRT1/FOXO3 pathway / 中成药

AIM To investigate the effects of Tongluo Xingnao Effervescent Tablets (Chuanxiong Rhizoma,Angelicae sinensis Radix and Scutellariae Radix) on the learning and memory function in SAMP8 mice,and improvements in cognitive function.METHODS Morris water maze was used to evaluate the change of cognitive function in SAMP8 mice after they were treated with Tongluo Xingnao Effervescent Tablets for 60 d,and the activity of superoxide dismutase (SOD),the concentration of protein carbonyls (PC),the ratio of NAD +/NADH in brain tissue were detected by ELISA,the expression of Nampt,SIRT1 and FOXO3 in hippocampus were measured with immunohistochemical methods.RESULTS Tongluo Xingnao Effervescent Tablets shortened escape latency and obviously increased percentage of time in target quadrant in hidden platform test and increased the times entering the target quadrant in spatial probe test in SAMP8 mice.It evidently enhanced the activity of SOD,the ratio of NAD +/NADH and distinctly decreased the protein carbonyls level.Moreover,Tongluo Xingnao Effervescent Tablets could markedly up-regulate the expression of Nampt and SIRT1,but evidently down-regulate FOXO3 protein expression.CONCLUSION The experimental data show that Tongluo Xingnao Effervescent Tablets can enhance the cognitive function of SAMP8 through regulating Nampt/SIRT1/FOXO3 signal pathway.

Effects of Tongluoxingnao effervescent tablet on Aβmetabolism in transgenic cell model / 中国药理学通报

Aim Tongluoxingnao effervescent tablets ( TLXNET) ,based on the ancient formula of QiongGui Tang, can improve cognitive dysfunction in different AD models. This research is aimed to study the effects of TLXNET on the Aβmetabolism and explore the anti-AD mechanism in SH-SY5 Y-APP and SH-SY5 Y-C99 cells. Methods Cells were incubated for 48h in dif-ferent concentrations of medicated serum ( containing 0% ~40% of TLXNET in the serum ) . Firstly, the non-toxic concentration was measured by MTT assay, the activity of cells was detected by LDH methods, and ELISA was used to measure the levels of Aβ1-40 and Aβ1-42 . Then, the gene and protein expressions of APP were detected via RT-PCR and Western blot of which the expressions of shearing fragments such as sAPPα and sAPPβ were investigated by Western blot, the same as the expressions of IDE and NEP. Addi-tionally, the level of mRNA, protein and activity of BACE1 were measured by qRT-PCR, Western blot and fluorescence detection kits respectively. Eventually, MTT assay was performed to detect the cell viability after the SH - SY 5 Y cells were treated with various concentrations of medicated serum and Aβ25-35 for 48h. Results There was no significant toxicity of TLXNET medicated serum in SH-SY5 Y-APP and SH-SY5 Y-C99 cells ( P >0 . 05 ) . TLXNET could signifi-cantly inhibit Aβ secretion in SH-SY5 Y-APP cells ( P0. 05). Additionally, TLXNET could still notably inhibit the expression of sAPPβ pro-tein in a dose-dependent way, with statistical signifi-cance ( P <0. 05 ) . Meanwhile, the level of mRNA, protein and activity of BACE1 were also significantly decreased by TLXNET (P <0. 01). Moreover, the medicated serum of TLXNET had a protective effect on SH-SY5 Y apoptosis induced by Aβ25-35 ( P <0 . 01 ) . Conclusion TLXNET could obviously inhibit β-secretase enzyme, and has an antagonistic effect a-gainst Aβneurotoxicity, which suggests that the inhibi-tion of β-secretase enzyme and antagonism against Aβneurotoxicity are the main anti-AD mechanism of TLX-NET .

Investigation in climacteric symptoms and depression of gynaecology outpatients and inpatients / 中国实用护理杂志

Objective To investigate the climacteric symptoms and depressive related factors of climacteric females in gynecology outpatients and inpatients,to provide evidence for effective health promotion.Methods 416 climacteric women were investigated by using improved menopause Kuppermen Scales and Center for Epidemiological Studies Depression (CES-D).The results underwent analysis.Results There were 93.99％ of patients suffering from climacteric syndrome,49.52％ with depression symptom.The main factors of climacteric syndrome were eating breakfast according to the timetable every day,nutritionally balanced diet,controlling of salt intake,regular body exercises and to maintain a proper body weight.Factors related to depression symptoms were sore breasts,constipation,dry skin,lower abdominal pain.The correlation between climacteric syndrome and depressive symptom was significant.Conclusions The main influencing factor of climacteric syndrome was healthy lifestyle.The climacteric syndrome increases the risk of depressive symptoms.

Study of postpartum depression state and its related factors among Chinese and Japanese parturients / 中国实用护理杂志

ObjectiveTo explore the related factors of postpartum depression among Chinese and Japanese women and analyze the cause of it.Methods587 delivery women who were from Tokyo,Japan and Henan China were investigated by using the Edinburgh Postnatal Depression Scale(EPDS) and 12-item General Health Questionnaire (GHQ-12), 352 Chinese women included and 235 Japanese women included.ResultsThe incidence of postpartum depression of Chinese women was 31 cases accounting for 8.81％ and Japanese women was 7 cases accounting for 2.98％. The number of GHQ- 12 cases were higher in Chinese women than in Japanese women. Through Logistic regression analysis, dehvery experience, having job or not, having family support or not, having someone looking after baby or not, the degree of physical pain are related factors were influencing factors of postpartum depression.Conclusions The incidence of postpartum depression of Chinese women was higher than Japanese women. Having no job is the risk factor of postpartum depression. The factors of eutocia, having someone looking after baby, the lower degree of physical pain were protective factors.

Bioreactor in bioartificial liver system / 中国组织工程研究

OBJECTIVE: To introduce the basic functions, working conditions and requirements of bioreactot, additional, to discuss the research process of bioreactor.METHODS: PubMed database (http://www.ncbi.nlm.nih.) and CNKI database (www.cnki.nat/index.htm) were retrieved by the first author with search terms of "bioartificial liver, bioreactor, membrane material" both in English and Chinese. The time was limited between January 1994 and August 2009. Inclusion criteria: ①literatures closely linked to the article; ②papers published in more authoritative journals in recent years. ③the contents of old or duplicate documents were excluded.RESULTS: Totally 150 documents were seized by primary screen, 88 irrelative papers and 32 duplicate documents were excluded, finally, 30 literature entered further analysis. Bioartificial liver system has become an effective in vitro supportive treatment for hepatic failure patients. Bioreactor is an important ingredient of bioartificial liver, which provided a platform for the hepatocytes growth metabolism, substances exchange and immune isolation. The main cellulose semipermeable bioreactor comprises fiat membrane bioreactor and hollow fiber bioreactor, and the main types of semipermeable membranes contain mixed cellulose ester membrane, cellulose acetate membrane, cuprophan membrane, PVDF membrane, as well as poly(ethylene terephthalate) membrane.CONCLUSION: As a dynamic system, the optimal of control system in bioreactor is conductive to regulating mass transfer and establishing bionic physical or chemical gradients, which can implement the construction of hepatocyte with smallest unit. The selection of membrane is the key link in bioreactor construction of bioartificial liver system

Primary research on the mechanisms of Xiaoyao powder influences hypothalamus-pituitary-adrenal axis of chronic stress rats / 中华行为医学与脑科学杂志

Objective To observe the mechanisms that Xiaoyao powder influences the hypothalamus-pituitary-adrenal (HPA) axis of chronic-stress rats. Methods Chronic stress rats were as researching object,and RU-38486 acted as tool drugs. The serum-GC density of rats were tested with ELISA,and the glucocortcoid(GR) in hippocampus neuron were tested with immunofluorescence,the CRH mRNA in hypothalamus were tested by in situ hybridization (ISH). Results Compared with normal group ( 1.09 ± 0.11 ;0.57 ± 0.10), the expression of GR in hippocampus of model group decreased(0.65 ± 0. 10; P ＜ 0. 01 ), and the expression of CRH mRNA in hypothalamus of model group increased ( 1.12 ±0. 11; P＜0. 0l ) ,the GR in hippocampus of RU-38486 group increased ( 1.59 ± 0. 11; P ＜ 0. 01 ), and the expression of CRH mRNA in hypothalamus of RU-38486 group reduced (0.48±0.10; P＜0.05) ,but both the expression of GR in hippocampus and the CRH mRNA in hypothalamus of Xiaoyao powder group were no change (0.62 ±0.08;0.97 ±0.13; P＞0.05). Compared with model group,both the expression of GR in hippocampus of RU-38486 and Xiaoyao powder group increased (P＜0. 01) ,and both the expression of CRH mRNA in hypothalamus of RU-38486 and Xiaoyao powder group reduced (P＜0.01). Conclusion Multi-stress can result in the expression of GR in hippocampus of rats decreasing and the expression of CRH mRNA in hypothalamus increasing, but those changes can be restrained by Xiaoyao powder, and it is the maybe mechanism of Xiaoyao Powder resisting chronic stress in HPA axis.

Mechanism of Xiao Yao San influences concentration of Ca2+ intracellular in cultured rat hippocampal neurons in the state of chronic stress / 中华行为医学与脑科学杂志

Objective To investigate the effects of Xiao Yao San on intracellular Ca2 + concentration in cultured rat hippocampal neurons in the state of chronic stress and study the mechanism of chronic stress injuring and XiaoYao San protecting. Methods MK-801 acts as tool,cultured rat hippocampal neurons were divided into seven groups, those were group 1 (control), group 2 (normal serum), group 3 (normal serum + Glu), group 4 (model serum + Glu), group 5 (model serum + Glu + MK-801), group 6 (Xiaoyaosan + Glu), group 7 (Xiaoyaosan + Glu + MK-801). to detect intracellular Ca2+ concentration in cultured hippocampal neurons in the simulated micro - environment of chronic stress and after intervention with the serum treated with Xiao Yao San by confocal laser microscope at the same period of time. Results Compared with group 1 (779.97 ± 36.81), concentration of Ca2+ intracellular of group 2 (1092.38 ± 36.41), group 3 (1472.49 ± 76. 19), group 4 (1509.52 ±104.69) and group 5 (1186.97 ±41.92) all increased significantly (P＜0.01) ,group 6 (908.74 ±40.24) increased too (P ＜ 0.05), compared with group 2, concentration of Ca2 + intracellular of group 3,4 and 5 all increased significantly (P ＜ 0.01), but group 7 (721.99 ± 60.33) decreased significantly (P ＜ 0.01). Compared with group 4, concentration of Ca2+ intracellular of group 6 and 7 decreased significantly (P＜ 0.01), group 5 decreased too (P ＜ 0.05), compared with group 6, concentration of Ca2 + intracellular of group 5 increased significantly (P ＜ 0.01),when group 7 decreased significantly (P＜0.01). Conclusion Serum of chronic stress treated with Xiao Yao San has the effect of inhibiting Ca2+ overload in hippocampal neurons,it may work through a variety of signaling pathways including Glu-NR-Ca2+ to maintain the steady-state of Ca2+ concentration in hippocampal neurons, and then to protect neurons from the neurotoxic effects of excitatory.

Diltiazem in combination with metoprolol for treating aortic dissection / 中华急诊医学杂志

Objective To explore the clinical therapeutic effects of intravenous infusion of dihiazem in com-bination with metoprolol for treating aortic dissection. Method From June 2005 to January 2008, fourteen patients with aortic dissection (male 8, female 4) in the First Hospital of Yichang,were treated with diltiazen 1～5 μg/(kgrate 30 min,60 min, 120 min,6 h, 1 d and 7 d after treatment were recorded. All data were analyzed using self-matching t test. Results The heart rate reduced significantly 60 min after treatment. The heart rate reduced (21±5) beats/min from the baseline. The total effective rate was 100% .The blood pressure reduced significantly 30min after treatment. The systolic pressure reduced to (126.2±11.1 ) mmHg and diastolic pressure declined to (80.3±8.1) mmHg. No severe cardiac side-effect observed. Conclusions Dihiazem in combination with meto-prolol can reduce heart rate and blood pressure markedly and safely in aortic dissection patients.

The Study of Immune Pathogenesis and The Effective of Immune Therapy in Patients with Recurrent Vulvovaginal Candidiasis / 医学研究杂志

Objective To study the role of immunoregulation in patients with Recurrent vulvovaginal candidiasis(RVVC) that evaluate the efficacy of application with combining clotrimazole and rhIFN-? therapy.Methods Patients were divided randomly into two groups :treatment group(60) and control group(60). The patients in treatment group were scheduled to receive clotrimazole therapy, 400mg,pv,qd,and add to rhIFN-? 1000000u im,biw; control group only using clotrimazole therapy.Results The curative rate betweet two groups had significant difference (68.33 (41/60) vs. 35.0(21/60). The efficiency rate in control group was significantly higher than treatment group( (56.67(34/60)vs 26.67(16/60)),In treatment group ,the serum levels of IL-18(pg/ml)(before treatment (111.71?18.45),after treatment (189.18?28.17))and TNF-? (pg/ml)(before treatment (52.66?18.75),after treatment (124.25?43.77))were significantly increased (P0.05). Conclusion The application with combining clotrimazole and rhIFN-? can significant ameliorate the curative rate of RVVC,by regulate immune fanction in the patients that were induced the produce of IL-18 and TNF-?. rhIFN-?can improve cell-mediated immunity in patients with RVVC.

A PHARMACOLOGICAL STUDY OF TERMINATION OF EARLY PREGNANCY BY ADMINISTRATION OF 15-METHYL PROSTAG LANDIN F2a ALONE AND IN COMBINATION WITH TESTOSTOS- TERONE PROPIONATE / 中国药理学通报

15-methyl prostaglandin F2a (PGF2a) in a dose of 0.2 rag/kg B. W.combined with testosterone propionate ( TP ) in a dnse of 25mg/ kg B. W. was better than 15-methyl PGF2a alone in a dope of 0.2mg/ kg B. W. on termination of early pregnancy in rats.The endometriurn necrosis only in the uterine deciduous of rats treated with TP.All the above results show that the combined administration of 15 methyl PGF2a and TP is better than the administration of 15-methyl PGF2a alone. TP can probably strengthen the abortion effect of 15-rnethyl PGF2a.