Genetic analysis of the ALMS1 gene in two families affected with Alstr?m syndrome / 中华眼底病杂志

Objective:To identify two pathogenic gene mutations in two families with Alstr?m syndrome (ALMS).Methods:A retrospective clinical study. Two patients and five family members from two Han families of ALMS diagnosed at Henan Eye Hospital from August 2020 to December 2021 were enrolled in this study. All participants underwent comprehensive ophthalmic examinations including best corrected visual acuity (BCVA), color test, slit-lamp, fundus biomicroscopy with slit lamp, fundus color photography, optical coherence tomography (OCT) and full-field electroretinography (ff-ERG) after the detailed history of the patient was taken. Five millilitres peripheral venous blood of each subject was collected, and the whole genome DNA was extracted. The pathogenic genes and mutation sites were identified using whole exome sequencing and the identified mutations were verified by Sanger sequencing. Mutation sites were analyzed via bioinformatics softwares.Results:Family one included one victim and two members and family two included one victim and three members. Proband in the first family was a four-year old boy whose chief complaint was poor vision along with photophobia since born, while proband in the second family was a 12-year old girl whose chief complaint was the same. The boy proband could not distinguish color, and both the anterior segment and fundus were normal. Ellipsoid zone of the boy was unclear in both eyes in OCT, and though rod system function decreased mildly-moderately in both eyes, the cone system function decreased severely in ff-ERG. The girl could not distinguish color as well, and the anterior segment was normal, though obvious pigmentary change could be seen in both retinas. The integrity of outer retinal bands was unclear in both eyes in OCT, and both cone and rod systems function decreased severely in both eyes in ff-ERG. Gene tests and bioinformatics analyze showed c.468dupT and c.10819C>T of ALMS1 gene in family one were novel mutations and c.10819C>T in family one and c.10831_10832del in family two were pathogenic mutations. Conclusions:M1, M2 and M3, M4 may be pathogenic gene variants in family 1 and family 2, respectively. The compound heterozygous mutation, c.468dupT and c.10819C>T of ALMS1 gene was a novel mutation.

A retrospective cohort study of tracheal intubation for meconium suction in nonvigorous neonates / 中国当代儿科杂志

OBJECTIVES@#To study the feasibility of tracheal intubation for meconium suction immediately after birth of nonvigorous neonates born through meconium-stained amniotic fluid (MSAF).@*METHODS@#A retrospective cohort study was performed on nonvigorous neonates born through MSAF who were admitted to the Department of Neonatology, Zhecheng People's Hospital. The neonates without meconium suction who were admitted from July 1, 2017 to June 30, 2018 were enrolled as the control group. The neonates who underwent meconium suction from July 1, 2018 to June 30, 2019 were enrolled as the suction group. The two groups were compared in terms of the mortality rate and the incidence rates of neonatal meconium aspiration syndrome (MAS), persistent pulmonary hypertension of the newborn, pneumothorax, and pulmonary hemorrhage.@*RESULTS@#There were 80 neonates in the control group and 71 in the suction group. There were no significant differences between the two groups in the incidence rates of MAS (11% vs 7%), persistent pulmonary hypertension of the newborn (5% vs 4%), pneumothorax (3% vs 1%), and death (0% vs 1%). Compared with the control group, the suction group had a significantly lower proportion of neonates requiring oxygen inhalation (16% vs 33%, P<0.05), noninvasive respiratory support (25% vs 41%, P<0.05) or mechanical ventilation (10% vs 23%, P<0.05) and significantly shorter duration of noninvasive ventilation [(58±24) hours vs (83±41) hours, P<0.05] and length of hospital stay [6(4, 8) days vs 7(5, 10) days, P<0.05].@*CONCLUSIONS@#Although tracheal intubation for meconium suction immediately after birth may shorten the duration of respiratory support for mild respiratory problems, it cannot reduce the incidence rate of MAS, mortality rate, or the incidence rate of serious complications in nonvigorous infants born through MSAF.

Application of Maxillary Sinus Effusion Detection in Diagnosis of Drowning / 法医学杂志

Objective To study the imaging characteristics of maxillary sinus effusion in drowned bodies, to explore its morphological characteristics and value in the diagnosis of the cause of death, and to provide objective evidence to support the study of virtual anatomy of drowning. Methods The 154 postmortem CT examination cases （31 cases of drowning, 123 cases of non-drowning） of Beijing Public Security Bureau Forensic Center in 2019 were collected. The bodies of all cases were scanned by multi-layer spiral CT before double-blind reading by clinical imaging experts. Maxillary sinus of corpses with maxillary sinus effusion in imaging findings was punctured. The detection rate of maxillary sinus effusion was calculated. The CT value and volume of maxillary sinus effusion were measured on 3D DICOM workstation. Results The detection rate of maxillary sinus effusion in the drowning was 100%, the shape was horizontal liquid level, the volume was 1.2-11.2 mL, the CT value was 6.08-19.02 Hu, with an average value of 12.85 Hu. The detection rate of maxillary sinus effusion in non-drowning was 19.51% （24/123）, the shape was wavy or irregular, and there were bubbles inside, the volume was 0.4-13.4 mL, the CT value was 23.68-77.75 Hu, with an average value of 42.08 Hu. The differences in CT value between the two groups had statistical significance. Conclusion The postmortem CT examination method can be used to observe the shape and measure the CT value of the maxillary sinus effusion in the bodies in water, which can be an auxiliary examination method for identification of drowning.

Genetic analysis of the CACNA1F gene in a family affected with incomplete form Schubert-Bornschein type congenital stationary night blindness / 中华眼底病杂志

Objective:To determine the pathogenic gene mutation in a family with incomplete congenital quiescent night blindness (CSNB) of Schubert-Bornschein type.Methods:A retrospective clinical study. In February 2021, one patient and his parents and elder brother from a Han Chinese incomplete CSNB of Schubert-Bornschein type family diagnosed by clinical and genetic examination at Henan Provincial People's Hospital were included in the study. The patient’s medical history, family history were inquired; best corrected visual acuity (BCVA), color vision, fundus color photography, full-field electroretinogram (ERG), and frequency domain optical coherence tomography (OCT) were examined in detail. Five ml of the subject’s peripheral venous blood was collected and the whole genome DNA was extracted. The genomic DNA of the subject was library constructed, and all-exon probes were polymerized for capture. The suspected pathogenic mutation site was verified by Sanger, and the pathogenicity of the gene mutation site was determined by parallel bioinformatics analysis.Results:The BCVA of both eyes of the proband (Ⅱ2) was 0.4; the color vision test could not recognize the red color. Fundus examination showed no obvious abnormalities. The retina thickness in the macular area of both eyes was slightly thinned. ERG examination of the whole field showed that the amplitude of ERG b wave was significantly reduced under the stimulation of binocular dark adaptation 3.0 and showed a negative waveform. The mother of the proband (Ⅰ2) had normal BCVA, color vision, fundus color photography, and frequency domain OCT examination. The full-field ERG examination showed that the amplitude of each eye reaction was slightly reduced, and the amplitude of the dark adaptation shock potential was significantly reduced. Genetic testing showed that the proband (Ⅱ2) had a c.1761dupC hemizygous mutation in exon 14 of the voltage-dependent calcium channel α1F subunit gene ( CACNA1F gene). The results of protein sequence homology analysis showed that the site was highly conserved in multiple species; the results of bioinformatics analysis showed that the CACNA1F gene c.1761dupC (pY588fs) subsequently had a frameshift mutation and became a stop at position 10. Codons appear translational termination in the conserved regions of the protein. According to the standards and guidelines of the American College of Medical Genetics and Genomics, the mutation was judged to be a possible pathogenic variant. The mother of the proband (Ⅰ2) was a carrier of this site mutation. The clinical and genetic test results of the father and elder brother of the proband were not abnormal. Conclusion:CACNA1F gene c.1761dupC is the pathogenic mutation site of the Schubert-Bornschein type incomplete CSNB family.

Novel mutations in the TULP1 and CNGB1 genes in a family affected with early onset severe retinal dystrophy / 中华眼底病杂志

Objective:To identify the pathogenic gene mutations in a family with early onset severe retinal dystrophy (EOSRD).Methods:A retrospective clinical study. One patient and three family members from a Han of EOSRD who were diagnosed at Henan Eye Hospital in August 2018 were included in the study. After the detailed history of the patients was collected, all participants underwent best corrected visual acuity (BCVA), slit-lamp, fundus biomicroscopy with the slit lamp, untra-widefield fundus color photography, spectral-domain optical coherence tomography (SD-OCT) and full-field electroretinography (ff-ERG). The subject’s peripheral venous blood of 5 ml was collected and the whole genome DNA was extracted. A genetic eye disease capture chip containing 441 disease-causing genes was used for targeted capture and enrichment of high-throughput sequencing, and Sanger sequencing was performed for the clear pathogenic mutation sites; the analysis software was used for bioinformatics analysis of the mutation sites.Results:A 6-year-old female proband developed poor night vision in both eyes after 1 year old. The BCVA of both eyes were 0.1. The color of the optic disc was slightly lighter; the diameter of the retinal vessels was slightly reduced, and extensive pigment changes can be seen in the retina outside the vascular arch. SD-OCT examination showed that the outer membrane, ellipsoid zone and chimera zone in the central fovea of both eyes were unclear and intermittent. The visual area outside the fovea was neuroepithelial outer plexiform layer, outer nuclear layer, outer membrane, ellipsoid zone. The chimera zone gradually disappeared, and the thickness of the pigment epithelial layer was not uniform. In ff-ERG examination, the functions of the binocular cone and rod system were severely decreased. The results of genetic testing showed that there were c.921C>A homozygous mutations in the Tubby-like protein (TULP1) gene of the proband, and c.3121C>T and c.3488G>A compound heterozygous mutations in the cyclic nucleotide gated channel beta 1 (CNGB1) gene. Amino acid conservation analysis results showed that the above three mutation sites were highly conserved in multiple species; bioinformatics analysis results showed that TULP1 gene c.921C>A (p.Cys307*) had translation termination in the protein conserved region, CNGB1 gene c.3121C>T (p.Arg1041Trp) and c.3488G>A (p.Gly1163Glu) had amino acid polarity changes in the protein conserved region, which led to major changes in the protein spatial structure.Conclusion:TULP1 gene c.921C>A homozygous mutation, CNGB1 gene c.3121C>T and c.3488G>A compound heterozygous mutation are the mutation sites of this EOSRD family.

A novel mutation of CNGB3 gene in a Chinese achromatopsia family / 中华实验眼科杂志

Objective:To identify the pathogenic gene mutations in a Chinese achromatopsia family.Methods:A pedigree investigation was performed.A Chinese Han pedigree from Luoyang city of China was enrolled in Henan Eye Hospital in November 2018.The medical history of the patients was collected.The best corrected visual acuity (BCVA) of the families was examined.The maniafestations of the anterior segment and fundus were obtained via slit lamp biomicroscope and slit lamp lens.The diopter was determined by objective and subjective refraction.Color vision was examined by Farnsworth-Munsell Hue Test.Retinal function was evaluated by international standard electroretinogram (ERG). Retina was observed by color photography, and its structural image was obtained by spectral-domain optical coherence tomography (SD-OCT). The peripheral blood sample was collected from the proband (Ⅲ1) and her younger brother (Ⅲ2) and parents for whole blood DNA extraction, and a whole genome sequencing (WGS) was performed to identify the pathogenic genes and mutation sites, and the sequencing data was compared through disease-related databases such as the Human Genome Databases due to a negative detective result of specific hereditary eye disease enrichment panel based on targeted exome capture technology.Sanger sequencing and bioinformatics analysis was carried out with softwares.The cosegregation analysis was performed.This study protocol was approved by an Ethics Committee of Henan Eye Hospital (No.HNEECKY-2019[15]) and complied with Declaration of Helsinki.Written informed consent was obtained from each subject or the guardian before any medical examination.Results:This family included 2 patients and 8 members with normal phenotypes in 3 generations and showed an autosomal recessive inheritance model.Poor vision and photophobia appeared after birth in both Ⅲ1 and Ⅲ2, and these symptoms did not deteriorate with aging.Pigmentary mottling and atrophic changes could be seen in the retinas of the patients.Reflection bands of external membrane and ellipsoid line in macula of patients were irregular on the OCT image.Color vision examination showed achromatopsia of the patients.ERG indicated that the amplitudes of a-, b-waves of scotopic 0.01, 3.0, 10.0 ERG and oscillatory potentials were slightly reduced, and the amplitudes of a-, b-waves of photopic ERG and wavelets of 30 Hz were seriously reduced in both eyes of Ⅲ1 and Ⅲ2.WGS showed that heterozygous mutations of a novel mutation c. 129+ 1G>A and a known mutation c. 1285dupT of CNGB3 gene in Ⅲ1 and Ⅲ2.The mutations were confirmed by Sanger sequencing.Conclusions:The compound heterozygous mutation in c. 129+ 1G>A/c.1285dupT of CNGB3 gene may be responsible for the achromatopsia pathogenesis in this Chinese Han pedigree.The abnormal phenotype of the patients is the result of both CNGB3 c. 129+ 1G>A and CNGB3 c. 1285dupT mutations simultaneously.

Exploration of active components and mechanism of Scutellariae Radix-Phellodendri Chinensis Cortex drug pair in treatment of psoriasis based on network pharmacology and molecular docking / 中国中药杂志

This paper aims to explore active components and mechanism of Scutellariae Radix(SR)-Phellodendri Chinensis Cortex(PCC) drug pair in treatment of psoriasis by network pharmacology and molecular docking. Specifically, the chemical components of SR and PCC were retrieved from literature and TCMSP, as well as targets of these components from PharmMapper and UniProt, and the targets related to psoriasis from OMIM, TTD, PharmGkb, and DrugBank. Then the chemical component-medicinal target, protein-protein interaction(PPI), and chemical component-psoriasis target networks were constructed by Cytoscape. Gene ontology(GO) term enrichment analysis and Kyoto encyclopedia of genes and genomes(KEGG) pathway enrichment analysis were performed based on Metascape. Finally, molecular docking of the chemical components(high degree) with core therapeutic targets was carried out by AutoDock vina. The results showed 88 compounds of SR and PCC(including baicalin, wogonoside, berberine and phellodendrine) and 30 targets of the pair in the treatment of psoriasis. The 30 targets mainly involved the biological processes such as neutrophil mediated immunity(GO: 0002446) and T cell activation(GO: 0042110), and the signaling pathways such as metabolism of xenobiotics by cytochrome P450(hsa00980), apoptosis(hsa04210), and PI3 K-Akt signaling pathway(hsa04151). The results of molecular docking demonstrated that the main active components can spontaneously bind to the targets and the binding energy of 46 components with epidermal growth factor receptor(EGFR) was less than-8 kcal·mol~(-1). According to the PPI analysis, EGFR may be a key target for the treatment of psoriasis. Active components such as baicalin and berberine had high binding affinity with EGFR. This study preliminarily revealed the multi-component, multi-target and multi-pathway mechanism of SR-PCC drug pair in the treatment of psoriasis, which provided theoretical basis for the research on the mechanism of the drug pair in the treatment of psoriasis.

The construction of the appraisal index system for the full-time scientific research personnel in general hospitals / 中华医学科研管理杂志

Objective:To construct a performance appraisal index system for the full-time scientific research personnel in general hospitals.Methods:Appraisal indexes and weight coefficients are determined by Documentary Analysis, Delphi Method and Analytic Hierarchy Process.Results:Weight coefficients of performance appraisal index system for the full-time scientific research personnel are determined after 3 rounds of expert consultation by using Analytic Hierarchy Process and calculating weight coefficients of evaluation indexes and combined weight coefficients.Conclusions:This system can introduce new evaluation methods for human resource management in general hospitals, help to evaluate the research capacity and work performance of full-time scientific research personnel comprehensively, and improve the evaluation system for full-time scientific research personnel.

Novel mutations of RPGRIP1 gene in a family with Leber congenital amaurosis / 中华眼底病杂志

Objective:To identify the pathogenic gene mutations in a family with Leber congenital amaurosis (LCA).Methods:In October 2018, 1 patient and 3 normal family members from a LCA family was enrolled in this retrospective study. Detailed medical history of proband was obtained and fixation test, cycloplegic refraction, slit-lamp, fundus color photography and full-field ERG were performed. And other family members underwent BCVA, refraction slit-lamp, fundus biomicroscopy with the slit lamp, fundus color photography and full-field ERG. The family was investigated with a specific hereditary eye disease enrichment panel which contained 441 known pathogenic genes and based on targeted exome capture technology first to indentify the potential pathogenic genes and mutations. Then the potential pathogenic mutations were conformed by Sanger sequencing. Finally, the results were analyzed via bioinformatics analysis.Results:The proband showed no trace object from childhood, but had obvious photophobia and nystagmus. No positive changes were found in the anterior segment, vitreous and retina in both eyes. Both cone and rod system function decreased significantly in full-field ERG in both eyes. Gene tests showed the proband carried both RPGRIP1 c.1635dupA and c.3565C> T, which composited a heterozygous mutation. Bioinformatics analysis showed RPGRIP1 c.1635dupA was a pathogenic mutation, and RPGRIP1 c.3565C> T which was a novel potential pathogenic mutation in LCA.Conclusion:The compound heterozygous mutation, c.1635dupA and c.3565C> T in RPGRIP1 may be responsible for the pathogenesis in this Chinese Han LCA pedigree.

Practice of parenting and related factors on children aged 0-5 in the urban areas of China / 中华流行病学杂志

Objective@#To characterize the relations between the practice of parenting and associated factors on children (0-5 years old) in urban areas of China, in order to provide evidence for promoting the early development of children and to provide positive guidance and service programs on parenting.@*Methods@#A total of 4 515 parents from 15 cities (14 provinces) were surveyed with a self-administered questionnaire. Parenting and Family Adjustment Scales (PAFAS) was used, including parameters as: consistency and coercive parenting, positive encouragement, parent-child relationship and parental emotion adjustment, family relationship and parental teamwork aspects, etc. Both single factor analysis and multiple linear regression were used to examine the associations between parenting practice, individual, parental and family factors.@*Results@#The mean score of PAFAS was 21.00 (15.00-28.00), associated with factors as children’s age, only-child family, premature delivery, father’s education level, confidence on parenting, problems regarding the parental mood, annual family income, family structure and behavior on seeking professional help, etc. Results showed that there were big differences on the practice of parenting in China and influenced by variety of factors.@*Conclusions@#The general situation of parenting was well, in the urban areas of China. The practice of parenting was associated with a series of individual, parental and family factors. Programs on improving the parenting skills and promoting the early development of children, should be highlighted.

Effect of ω-3 polyunsaturated fatty acid on oxidative stress production and apoptosis in hippocampus of neonatal rats with brain injury induced by lipopolysaccharide / 新乡医学院学报

Objective To investigate the effects of ω-3 polyunsaturated fatty acid(PUFA)on oxidative stress produc-tion and apoptosis in hippocampus of neonatal rats with brain injury induced by lipopolysaccharide(LPS). Methods Forty-eight neonatal Sprague Dawley rats(3 days)were randomly divided into control group,LPS group,ω-3 PUFA group and ω-6 PUFA group,with 12 rats in each group. The rats in the LPS group,ω-3 PUFA group and ω-6 PUFA group were given 0. 6 mg·kg - 1 LPS via intraperitoneal injection,then equal volume of saline,ω-3 PUFA and ω-6 PUFA was immediately given via intraperitoneal injection respectively;while the rats in the control group were all given equal volume of saline. The rats in each group were sacrificed at 24 hours after intraperitoneal injection with saline or fat emulsions to obtain the hippocampus. The levels of superoxide dismutase(SOD)and malondialdehyde(MDA),reduced glutathion(GSH),oxidized glutathione(GSSG) were detected and GSSG/ GSH was calculated. The apoptotic index was measured by terminal deoxynucleotidyl transferase-me-diated dUTP nick end labeling. Results Compared with the control group,the levels of SOD and GSH in hippocampus of rats in the LPS group,ω-6 PUFA group and ω-3 PUFA group were significantly decreased(P < 0. 05),and the levels of MDA, GSSG and the ratio of GSSG/ GSH were significantly increased(P < 0. 05). Compared with the LPS group,the levels of SOD and GSH in hippocampus of rats in ω-6 PUFA group were significantly decreased(P < 0. 05),the levels of MDA,GSSG and the ratio of GSSG/ GSH were significantly increased(P < 0. 05);the levels of SOD and GSH in hippocampus of rats in ω-3 PU-FA group were significantly increased(P < 0. 05),the levels of MDA,GSSG and the ratio of GSSG/ GSH were significantly de-creased(P < 0. 05). Compared with the ω-6 PUFA group,the levels of SOD and GSH in hippocampus of rats in ω-3 PUFA group were significantly decreased(P < 0. 05),the levels of MDA,GSSG and the ratio of GSSG/ GSH were significantly in-creased(P < 0. 05). The apoptotic index in the LPS group,ω-6 PUFA group and ω-3 PUFA group was higher than that in the control group(P < 0. 05). The apoptotic index in the ω-6 PUFA group was higher than that in the LPS group(P < 0. 05). The apoptotic index in the ω-3 PUFA group was lower than that in the LPS group and ω-6 PUFA group(P < 0. 05). Conclusion ω-3 PUFA can alleviate the oxidative stress,and decrease the apoptosis of hippocampus in neonatal rats with brain injury in-duced by LPS. So it has a neuroprotective effect in brain injury induced by LPS.

Slow Wave Activity and Modulations in Mouse Jejunum Myenteric Plexus In Situ

BACKGROUND/AIMS: Myenteric plexus interstitial cells of Cajal (ICC-MY) are involved in the generation of gut pacemaker activity and neuronal communication. We performed patch clamp on ICC-MY in situ to observe the changes of pacemaker activity in response to neural modulations. METHODS: A fresh longitudinal muscle with myenteric plexus (LMMP) from mouse jejunum was prepared. ICC-MY and ganglion neurons embedded in the layer of longitudinal muscles were targeted by patch clamping in whole-cell configuration in a model of current or voltage clamp. Neurogenic modulators were applied to evaluate their effects on ICC pacemaker activity. RESULTS: In situ ICC-MY showed spontaneous and rhythmical voltage oscillations with a frequency of 27.2 ± 3.9 cycles/min, amplitude of 32.6 ± 6.3 mV, and resting membrane potential of −62.2 ± 2.8 mV. In situ neurons showed electrically evocable action potential in single or multiple spikes. Pacemaker activity was modulated by neuronal activators through receiving a neuronal input. Application of tetrodotoxin depolarized pacemaker potentials in a dose dependent manner, and decreased the amplitude at tetrodotoxin 0.3 μM for about 40 ± 10%; capsaicin (1 μM) ameliorated ICC-MY K+ current for about 49 ± 14.8%; and, nitric oxide hyperpolarized pacemaker potential and decreased the amplitude and frequency. CONCLUSIONS: The in situ preparation patch clamp study further demonstrates that the pacemaker activity is an intrinsic property of ICC. The neurogenic activators change and shape pacemaker potential and activity in situ. LMMP preparation in situ patch clamp provides an ideal platform to study the functional innervation of the ICC and the enteric neural system, thereby, for evaluating the neural regulation of pacemaker activity, especially in disorder models.

Intervention of BCG Polysaccharide and Nucleic Acid in Hypersusceptibility in Guinea Pigs / 中国药师

Objective:To study the effect and underlying mechanism of BCG polysaccharide and nucleic acid ( BCG-PSN) in hy-persusceptibility in guinea pigs to explore the improvement method for the quality control model of BCG-PSN. Methods:The ovalbumin induced hypersusceptibility animal model was established, the effect of BCG-PSN on hypersusceptibility in guinea pigs was observed. According to the guideline for immunity toxicity study on Chinese traditional medicine and natural medicine, the hypersusceptibility tests were carried out. Serum IgE and histamine were determined by ELISA. Results:The guinea pigs in the model group and the low dosage BCG-PSN group showed strong anaphylactic symptoms, while the middle and high dosage BCG-PNS groups showed fewer symp-toms. The level of IgE in the model group was (1. 673 0 ± 0. 158 6) μg·ml-1 and (1. 683 1 ± 0. 228 1)μg·ml-1 before and after the attacking, respectively, which was higher than that in the control group(P<0. 01). The levels of IgE in the middle and high dos-age BCG-PNS groups were decreased compared with those in the model group before and after the attacking(P<0. 01). The same re-sults were observed in the levels of histamine. Before and after the attacking, the levels of histamine in the model group was (1. 499 7 ± 0. 133 1) ng·ml-1 and (1. 512 1 ± 0. 050 6) ng·ml-1 , respectively, while the levels of histamine in low, middle and high dos-age BCG-PNS groups were decreased compared with those in the model group before and after the attacking(P<0. 01). Conclusion:BCG-PSN can dose-dependently inhibit the anaphylactic reaction induced by ovalbumin.

Translational medicine and clinical nursing / 中华医学科研管理杂志

Nursing had a long history over thousands of years which developed from ancient saying better bid the cooks than the medicine,disease-centered and patient centered tohealth-centered clinical nursing.In order to promote quality of clinical nursing,it need innovation by introducing translational medicine into nursing.This paper analyzed how to integrate translational medicine into clinic nursing and explore nursing model based on translational medicine.

Association of CLOCK gene T3111C polymorphism with attention deficit hyperactivity disorder and related sleep disturbances in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To examine the association between CLOCK gene T3111C polymorphism with attention deficit hyperactivity disorder (ADHD) and ADHD related sleep disturbances in children.</p><p><b>METHODS</b>One hundred and sixty-six unrelated children with ADHD diagnosed according to DSM-IV criteria and a control group of 150 normal children were enrolled in this study. Parents filled out the Sleep Disturbance Scale for Children (SDSC). Genotype and allele frequencies of T3111C of the CLOCK gene were examined by PCR-restriction fragment length polymorphisms (PCR-RFLP).</p><p><b>RESULTS</b>There were significant differences in the genotype and allele frequencies of T3111C of the CLOCK gene between the ADHD and control groups (P<0.05). C allele frequency in the ADHD group was significantly higher than in the control group (χ2=7.254, P=0.007, OR=1.740, 95%CI=1.160-2.612). The ADHD children with sleep disturbances were found to have higher C allele frequency than those without sleep disturbances (χ2=13.052, P<0.001, OR=2.766, 95%CI=1.573-4.865).</p><p><b>CONCLUSIONS</b>There is an association between CLOCK gene T3111C polymorphism and both ADHD and related sleep disturbances in children. The individuals with C allele are susceptible to ADHD as well as ADHD related sleep disturbances.</p>

Sodium butyrate induces rat liver oval cells WB-F344 differentiating into billiary epithelium cells in vitro / 第二军医大学学报

Objective: To investigate the effect of sodium butytate (different concentrations) on the growth and proliferation of rat liver oval cell line WBF344, and to discuss the conditions and tules for sodium butyrate-inducd WB-F344 cells differentiation into biliary lineage in vitro. Methods: WB-F344 cells were treated with sodium butyrate (0.70, 2.25, 3.75, 4.5 mmol/L) and the cell growth and morphological changes were observed; routinely cultured WB-F344 cells were taken as control. The changes of CK19 protein expression were examined immunohistochemically after WB-F244 cells were treated with 3.75% sodium butyrate; and the expression of phenotypic markers, such as γ-glutamyltransferase (GGT), β4-integrin, CK19, AFP and ALB at toRNA level were determined by RT-PCR. Untreated WB-F344 cells were used as blank control. Results: We found that sodium butyrate inhibited the growth of WB-F344 cells. The optical densities were significantly decreased in 3.75 and 4.5 mmol/L groups compared with that in control group(P<0.01); but no significant difference was found between 0.75, 2.25 mmol/L groups with control group. WB-F344 cells treated with 3.75, 4.5 mmol/L sodium butyrate became larger and round, with increased nuclei and decreased nucleus to cytoplasm ratio; those treated with 0.75, 2.25 mmol/L had no obvious changes. Immunohistochemical results showed that sodium butyrate significantly increased CK19 expression compared with control group ([92.3±1.1]% vs [1.3±0.2]%, P<0.01). RT-PCR showed increased expression of β4-integrin in sodium butyrate treated groups, but not in control group; the expression of GGT and CK19 was higher than that of control group. Alpha-fetoprotein (AFP) expression was observed in blank control group, but not in sodium butyrate treated cells. Albumin expression was not detected in the 2 groups. Conclusion: Sodium butyrate at 3.75 mmol/L is suitable for inducing WB-F344 cells differentiate into the biliary lineage in vitro.

Effect of preoperative transcatheter arterial chemoembolization for treatment of resectable large hepatocellular carcinoma: A clinical randomized controlled trial / 第二军医大学学报

Objective: To evaluate the effect of preoperative transcatheter arterial chemoembolization (TACE) on liver function and survival of patients after resection of large hepatocellular carcinoma (HCC) by a randomized controlled approach. Methods: From July 2001 to December 2003, a total of 108 patients with resectable large HCC(≥ 5 cm) ,who met the inclusion criteria, were prospectively randomized into surgical resection group (OP group, n=56) or preoperative TACE group (TACE + OP group, n=52). Operative outcomes, resection rate, 1-,3-,and 5-year tumor-free survival rates and overall survival rate were compared between the two groups. Results: The preoperative baseline conditions were equivalent between the two groups. The γ-globulin level in TACE + OP group was significantly higher than that in the OP group(P = 0. 046) after chemoembolization. The prealbumin level was significantly lower than that of the OP group seven days after operation(P = 0. 031). Compared with TACE + OP group, OP group had a significantly higher resection rate (100% vs 89. 4% ,P=O. 017) ,a less average operative time (P=O. 042) ,and less metastases (2 vs 9,P=O. 018). There were no significant differences between the two groups in intraoperative blood loss, warm ischemic time, 1-,3-,and 5-year tumor-free survival rates,or overall survival rate. Conclusion: The preoperative TACE can not improve post-operative tumor-free and overall survival rates, and it may result in tumor metastasis or hepatic function damages.

Expression of Vascular Endothelial Growth Factor and Its Receptor of Bone Marrow in Children with Acute Leukemia / 实用儿科临床杂志

Objective To investigate the expression of vascular endothelial growth factor/vcascular endothelial growth factor receptor(VEGF/VEGFR) in bone marrow of children with acute leukemia(AL),and explore their relationship of the clinical features,and observe changes before and after chemotheropy.Methods The bone marrows of 53 children with AL were assayed to study the expression of VEGF/VEGFR(KDR,Flt-1)before and after chemtheropy with S-P immhistochemical staining.Their relations to the clinical features were evaluated.Results The expressions of VEGF,Flt-1,KDR were significantly higher in newly diagnosed children with AL than those of control group.They were significantly higher in children with acute myeloid leukemia(AML) than in children with ALL.The expressions of VEGF,Flt-1,KDR in remission chidren after chemotheropy were significantly lower than before chemotheropy.There was a positive correlation of the percentage of bone marrow blasts with VEGF expression in children with AL.There was also a positive correlation of the percentage of leukemic cell in blood rountine with VEGF expression.For the untreated group of children,no correlation was found between expressions of VEGF,Flt-1,KDR and age,sex,extramedullary infiltration.Conclusions Expression levels of VEGF,Flt-1,KDR in bone marrow of children with AL increases.VEGF/VEGFR may play an important role in process of chidhood AL.

Relationship between oxidized lipoprotein, angiogenesis and human coronary atherosclerotic plaque stabilization / 中华病理学杂志

<p><b>OBJECTIVES</b>To analyze the relationship between oxidized low density lipoprotein (oxLDL), angiogenesis and stabilization of atherosclerotic plaques in human coronary arteries; and to investigate the role of oxLDL in creating vulnerable sites in atherosclerotic plaques.</p><p><b>METHODS</b>Samples of coronary arteries were obtained at autopsies of 42 patients with acute coronary syndrome. Eighty randomly selected blocks were studied by immunohistochemistry using antibodies against oxLDL and endothelial cells (factor VIII). Computer-aided planimeter was used for quantitative analysis.</p><p><b>RESULTS</b>In unstable plaques, percentage of immunoreactive areas for oxLDL was significantly higher than that in stable plaques. Most of the oxLDL were located in shoulder region of these plaques, as compared to the fibrous cap and basal regions. The details of distribution of oxLDL were as follows: shoulder region (20.43 +/- 3.12 for unstable plaques and 17.65 +/- 4.22 for stable plaques), fibrous cap (4.77 +/- 2.03 for unstable plaque and 2.80 +/- 0.22 for stable plaques) and basal region (5.65 +/- 1.65 for unstable plaques and 3.22 +/- 1.02 for unstable plaques). OxLDL was also a main component in the lipid core. In the shoulder region, there was a significant positive correlation between neovascularization and oxLDL (r = 0.8247, P = 0.000).</p><p><b>CONCLUSIONS</b>The amount of oxLDL is significantly higher in unstable atherosclerotic plaques, especially over the shoulder region. OxLDL in coronary atherosclerotic plaques is thus an important factor in determining stabilization of the plaques. OxLDL may induce influx of inflammatory cells which subsequently leads to decreased plaque stabilization.</p>

Effect of cardiotrophin-1 on cardiac transcription factor GATA4 expression in rat cardiomyocytes / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the effect of cardiotrophin-1 (CT-1) on the GATA4 expression and related signaling pathways (JAK-STAT3, ERK1/2 and PI3-K) in rat cardiomyocytes.</p><p><b>METHODS</b>Using semi-quantitative RT-PCR and EMSA, we measured the dose and time dependent effects of CT-1 on GATA4 mRNA and binding activity in cultured rat cardiomyocytes. Parthenolide (a STAT inhibitor), U-0126 (an ERK inhibitor) and LY-294002 (a PI3-K inhibitor) alone or in combination were added to the culture medium to assess the role of above signaling pathways in CT-1 mediated effects.</p><p><b>RESULTS</b>GATA4 mRNA expression significantly increased at 3 h post 0.1 nmol/L CT-1 exposure, peaked at 6 h and remained high till 24 h post exposure. The GATA4 binding activity began to increase at 10 min and peaked at 60 min and returned to baseline level 180 min. Six hours post CT-1 (0.01 nmol/L, 0.1 nmol/L, 1 nmol/L) exposure, the GATA4 mRNA expression increased in a dose-dependent manner. The GATA4 binding activity peaked with 0.1 nmol/L CT-1 and higher dose did not further increase the binding activity. U-0126 increased the GATA4 mRNA expression and enhanced the GATA4 binding activity and these effects could be partially attenuated with addition of Parthenolide. Parthenolide also prevented the increase of GATA4 mRNA and binding activity induced by CT-1. LY-294002 had no effects GATA4 mRNA and binding activity.</p><p><b>CONCLUSION</b>CT-1 increases the GATA4 mRNA expression and binding activity in rat cardiomyocytes via STAT3/ERK1/2 pathways and these effects are independent of PI3-K pathway.</p>