Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review / 中华儿科杂志

Objective@#To investigate the clinical manifestations and genetic features of a child with Bainbridge-Ropers syndrome caused by ASXL3 gene variation and review the literature.@*Methods@#Clinical data and genetic features were collected and analyzed from a child with Bainbridge-Ropers syndrome who was diagnosed in Bao'an Maternity and Child Health Hospital in November 2016. "ASXL3" and "Bainbridge-Ropers" were used as key words to search at China National Knowledge Infrastructure, Wangfang Data Knowledge Service Platform, PubMed and Human Gene Mutation Database up to June 2017.@*Results@#A 29/12 years old girl was presented with psychomotor retardation, feeding difficulty, hypotonia and specific craniofacial phenotype. She showed severe growth retardation (height: 84 cm, body weight: 8.0 kg (both were less than 3rd percentile rank of the children at the same age) and head circumference: 46 cm(=3rd percentile rank)), without obvious abnormalities in laboratory tests and neuroimaging tests. A de novo heterozygous nonsense variation: c.3349C>T(p.R1117*) in ASXL3 gene was identified by the whole exome sequencing, and the novel variation was classified into pathologic variant based on Standards and guidelines for the interpretation of sequence variants from ACMG. According to literature retrieval, no Chinese cases with ASXL3 variation had been reported. Totally 28 cases including the present girl harboring ASXL3 variations with detailed clinical information were reported. Thirty-one variations in ASXL3 gene were involved, including 1 missense variation and 30 loss of function variations, which were all de novo variations.@*Conclusions@#The clinical features of Bainbridge-Ropers syndrome include severe psychomotor retardation, feeding difficulties, hypotonia and specific facial features. The heterozygous nonsense variation in ASXL3 gene is the cause of the patient. All the pathogenic variations in ASXL3 gene are de novo and loss of function variations.

The longitude study on the mental development of congenital hearing-impaired infants and toddlers / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To explore the effect of chronological age and acoustic device in cognitive development of congenital hearing-impaired infants and toddlers, and analyze the correlation of abilities in cognitive development with other factors.</p><p><b>METHODS</b>Depending on chronological age (1 year old group and 2 years old group) and acoustic device (hearing aids and cochlear implantation), locomotor, personal-social, hearing and speech, hand and eye co-ordination, performance tests in Griffith Cognitive Development Scale were used to assess the cognitive development of 80 hearing-impaired infants and toddlers aged 0-2 years, including before intervention (0 month), after intervention (6, 12 months). Datas were analyzed by Repeated Measurements and Pearson Correlation Test.</p><p><b>RESULTS</b>During 1 year hearing intervention and rehabilitation, hearing and speech, performance and cognitive were extremely significant difference for each phase of early intervention (P < 0.01), the development of locomotor, personal-social, hand and eye co-ordination were no significant difference (P > 0.05). Personal-Social in 1 year old group with hearing impairment was much higher than 2 years old group P < 0.05). Hearing and speech in cochlear implanted group with hearing loss was much higher than hearing aids group. Cognitive development was positive correlation with various region development P < 0.01), and was negatively correlated with chronological age (P > 0.05).</p><p><b>CONCLUSIONS</b>Cognitive development is proportional to recovery time. The chronological age of early intervention obviously affect deaf children's cognitive development. The ability of hearing and speech in cochlear implanted children is superior to children with hearing aids in severe and profound hearing impaired children.</p>

Preparation of a fusion protein with pneumococcal surface protein A of two different clades of familyⅠand analysis of immunogenicity of the recombinant protein / 中华微生物学和免疫学杂志

Objective To construct a recombinant fusion protein with pneumococcal surface pro-tein A (PspA) of Stretococcus pneumonia (SPN) familyⅠclade 1 and 2, and to analyze the immunogenici-ty of the fusion protein.Methods The gene fragments encoding theα-helix of PspA of the two clades were amplified by PCR and then inserted into the expression vector pET-27b(+) to construct the recombinant ex-pression plasmid.The transformed Escherichia coli BL21 strains carrying expression plasmid were induced by IPTG to express the recombinant protein.The titers and affinity of antibodies against PspA protein were measured by ELISA.An opsonophagocytic assay and an animal experiment were performed to evaluate the immunogenicity of the recombinant protein.Results Double enzyme cutting and gene sequencing confirmed the two purpose gene fragments were correctly expressed in the expression vector pET-27b(+).The titers of anti-PspA antibody in the serum of Kunming ( KM) mice immunized with the fusion protein were 1 ×104 . The affinity of anti-PspA antibody reached to 2×105 .The rates of recombinant PspA6B-PspA05 protein me-diated phagocytosis for SPN6B, SPN05 and SPN01 strains were 20%, 15% and 8.8%, respectively.No SPN23F strain was engulfed by macrophages upon the stimulation with PspA6B-PspA05 protein.The survival rates of mice injected with SPN05, SPN6B, SPN01 and SPN23F strains were respectively 75%, 92%, 75%and 33%upon the immunization of PspA6B-PspA05 protein.Conclusion The recombinant fusion protein PspA6B-PspA05, constructed with the PspA proteins of Stretococcus pneumonia familyⅠclade 1 and 2, was successfully expressed in the E.coli prokaryotic system with the advantage of high immunogenicity.High ti-ters of anti-PspA antibodies with high specificity were induced in KM mice upon the stimulation with Ps-pA6B-PspA05 protein.Moreover, a cross-protective immunity was induced in KM mice upon the immuniza-tion with PspA6B-PspA05 protein.

Comparison of immunogenicity of the pneumococcal proteins PspA and PsaA / 中华微生物学和免疫学杂志

Objective To compare the immunogenicity of pneumococcal surface adhesion A (PsaA) and pneumococcal surface protein A (PspA). Methods The variability of the genes and the expressed pneumococcal proteins PsaA and PspA was investigated by electrophoresis. Cross-reactivity of proteins with the antibodies induced by the corresponding proteins of Streptococcus pneumoniae serotype 5, 6B,1, 19F and 23F was researched by Western blot. The enzyme-linked immunosorbent assay (ELISA) was adopted to detect the antibody subclasses and the accessibility of antibodies induced by PsaA and PspA to the surface of the above intact strains. Cross-protection against challenging with Streptococcus pneumoniae strains was indagated in mice. Results Both proteins showed to induce the similar level of antibody subclasses.This study demonstrated that cross-reactivity of pneumococcal PspA was restricted in the same clade, which showed less extensive than pneumococcal protein PsaA. But antibody induced by pneumococcal protein PspA could be bound to the surface of the intact strains, which conduced the stronger cross-protection against inva sive strains. Conclusion The mice immunized with PspA protein cross-protected well against the invasive strains in which PspA belonged to the same clade 1 of family 1. It showed that pneumococcal protein PspA was more effective than PsaA in protection as composition of vaccine.

The common causes of premature delivery and the analysis of tocolytic effect / 中国基层医药

Objective To investigate the eomman causes of premature delivery,the tocolytic effect and suc-cess ratio and the birth situation of premature infants. Methods 150 pregnant women with natural delivery or iatro-genie preterm labor from 28 weeks to 34 weeks who carried out tocolytic therapy because of threatened preterm labor or premature delivery after tocolytic therapy were selected. The common inducement of premature delivery, the pro-longed gestational weeks, the success ratio of tocolyis and the birth situation of premature infants were retrospectively analyzed. Results The premature rupture of membranes(PROM) ,the spontaneous uterine contraction and iatrogenic preterm labor were the main reasons of premature labor. The primiparas are the majority. The iatrogenic partus pre-maturus were prolonged, the asphyxia rate of premature infants was still high. The incidence of premature rupture of fe-tal menbranes in pregnant with tocolytic therapy beyond 1 week was 3. 3% ,and the incidence of spontaneous urerine contraction was 4. 8%. Conclusion Antenatal care and prenatal diagnosis are important to decrease the premature labor ratio as early as possible to use the D. X. M to promote the fetal lung maturity, so as not to delay the treatment.

Microendoscopic cervical discectomy and intervertebral fusion with carbon fiber reinforced polymer Cage by anterior approach for treatment of cervical spondylosis A 25-case analysis / 中国组织工程研究

BACKGROUND:Techniques of antedor cervical discectomy and interbody fusion have achieved good clinical outcomes since Robinson and Smith first introduced it in 1955.Currently,microendoscopic approaches have resulted in good clinical effectiveness in treating cervical spondylosis.Cage has also been used widely in the clinic.OBJECTIVE:To find a minimally invasive method that uses microendoscopic technique and Cages to treat cervical spondylosis by anterior approach.DESIGN,TIME AND SETTING:A retrospective case analysis was performed at the Department of Spinal Surgery,First Affiliated Hospital of University of South China between January 2003 and July 2008.PARTICIPANTS:A total of 25 patients with cervical spondylosis,15 males and 10 females,averaging 39 years of age (range,33-58 years old),who received treatments at the Department of Spinal Surgery,First Affiliated Hospital of University of South China were included in this study.Each of them had unilateral limb pain,numbness or weakness in varying degrees.MRI image showed one-level cervical disc degeneration in 20 patients and two levels in 5 patients.METHODS:Twenty-five patients underwent anterior cervical microendoscopic discectomy and interbody fusion using carbon fiber reinforced polymer (CFRP) Cage.Surgical techniques,neurological outcomes and complications were retrospectively analyzed.The postoperative treatments were just like the conventional approaches.MAIN OUTCOME MEASURES:Improvements in neurological symptoms were assessed using the Japanese Orthopedic Association (JOA) grading system.Postoperative imaging data including lordosis and fusion condition were examined.RESULTS:All patients received treatments successfully.The mean surgical time was 140 minutes (range,80 to 225 minutes).The hospital stay averaged 7 days (range,6 to 10 days).Patients' neurological statuses improved to varying degrees according to the JOA grading system:7.5 pre-operative (range,4 to 9 points) to 12 post-operative (range,8 to 16 points),with the mean improvement rate of 45.6%.All cases were followed up and the mean follow-up period was 18 months (range,6 to 27 months).Postoperative images showed solid bone fusion without implant migration.No vascular injury and infection occurred.Graft collapse was found in 2 patients,and transient hoarse voice in 1 patient.No other complications were found.CONCLUSION:Anterior microendoscopic cervical discectomy and interbody fusion with CFRP Cage in treatment of cervical spondylosis have the advantages of minimal invasion,sufficient decompression,and satisfactory bone fusion,resulting in a significant relief of patients' preoperative clinical symptoms.

Effects of astragalus and angelica injections on adenosine triphosphate-ase in renal injury induced by ischemia / reperfusion in rabbits / 中国组织工程研究

BACKGROUND: It is indicated in researches of recent years that both astragalus and angelica act on anti-free radical and protect renal injury due to ischemia / reperfusion.OBJECTIVE: To observe the protection and its mechanism of astragalus and angelica injections on adenosine triphosphate-ase (ATPase) in renal injury due to ischemia/reperfusion.DESIGN: The observing controlled experiment based on experimental animals .SETTING: Physiological teaching & research room and teaching & research room of renal functional protection in a medical college. MATERIALS: The experiment was performed in Physiological Experimental Room of Luzhou Medical College from January 2001 to March 2001. Totally 33 Japanese big-ear white healthy adult rabbits of either sex were employed,provided by Experimental Animal Center of Luzhou Medical College, in the mass of(1.63 + 0. 22) kg. According to random number table, they were divided in sham-operation control(8 rabbits), simple ischemia/reperfusion group (8 rabbits), astragalus injection + ischemia/reperfusion group (astragalus group) (8 rabbits) and angelica injection + ischemia/reperfusion group(angelica group) (9 rabbits).METHODS: One day before operation, on the day of operation and 1 day after operation, successively, intravenous medical injections (astragalus 1.25 g/kg,angelica 12.5 g/kg) were administrated in astragalus and angelica groups everyday respectively, and injection with physiological saline 5 mL/kg was applied in the control and simple ischemia/reperfusion group. In 48 hours reperfusion after 1 hour ischemia in kidney, blood sample was collected from inferior vena cava. The upper tissue of the right kidney was collected and fixed by placed in 30 mL/L glutaraldehyde and the lower tissue was prepared into homogenate. Ultrastructure of renal tissue was examined with electron microscope; serum creatinine level and ATPase activity in renal tissue were assayed.MAIN OUTCOME MEASURES: Ultrastructure of renal tissue, serum creatinine level and ATPase activity in renal tissue.RESULTS: In simple ischemia/reperfusion group, renal tissue was degenerated significantly, and the disorders in astragalus and angelica groups were reduced markedly compared with simple ischemia/reperfusion group. Serum creatinine level in simple ischemia/reperfusion group was higher remarkably than the sham-operation control ( P ＜ 0. 05 ), and that in astragalus and angelica groups was reduced than simple ischemia/reperfusion group (P ＜ 0. 05) . In simple ischemia/reperfusion group, the levels of Mg2+-ATPaes, Na+-K+-ATPase and Ca2+-ATPase were(0. 155 ±0. 020),(0.179±0.018), (0.150±0.022) nkat/g respectively, which was markedly reduced compared with sham-operation control [ (0. 174 + 0. 012),(0. 198 + 0. 012), (0. 181 + 0. 017) nkat/g], ( t = 2. 344, 2. 438, 3. 014,P ＜ 0.05 ). In astragalus and angelica groups, respectively, the activities of Mg2+-ATPaes, Na+-K+-ATPase and Ca2+-ATPase were(0. 172 ± 0. 023),(0. 196 ±0. 077), (0. 175 ±0. 016) and (0. 177 ±0. 015), (0. 200 ±0.011 )and (0. 181 ± 0. 025) nkat/g successively. Except that Mg2+-ATPaes activity in astragalus group was not different significantly from that in simple ischemia/reperfusion group, all the rest were higher than simple ischemia/reperfusion group(t =2. 372 -2. 786, P ＜0.05).CONCLUSION: Both astragalus and angelica inhibit the decrease of ATPase and improve the disturbed local blood-flow adjustment in kidney, which has provided experimental basis of astragalus and angelica on reducing renal injury induced by ischemia/reperfusion through protecting ATPase.

Effects of Radix Angelicae Sinensis on changes of IL-6, TNF-? and bFGF in renal ischemia/reperfusion injury in rabbits / 中国病理生理杂志

AIM: To determine the effect of Radix Angelicae Sinensis(RAS) on renal ischemia/reperfusion injury in rabbits and to explore its mechanism. METHODS: Twenty-five rabbits were divided randomly into the sham operated group(Control group), renal ischemia/reperfusion injury group(IR group) and RAS+IR group. At the time point of reperfusion 48 h after renal ischemia 1 h, the renal tissue were observed by electron-microscope and the contents of creatinine(Cr) in serum, tumor necrosis factor-?(TNF-?), interleukin-6(IL-6)and basic fibroblast growth factor(bFGF) in the renal tissue were measured. RESULTS: A remarkably degenerative changes in renal tissue were showed under electronmicroscope in IR group , but the changes in RAS+IR group were slight . The contents of Cr, TNF-? and IL-6 in IR group were higher than those in Control group, these parameters in RAS+IR group were lower than those in IR group, the difference between these groups was significant ( P

The primary study on changes of expressive proteome of the prefrontal cortex between normal and morphine-addicted rats / 中国药理学通报

Aim To obtain two-dimensional gel electrophoresis maps of the prefrontal cortex(PFC)proteins of normal and morphine-addicted rats for identifying the diferentially expressed proteins in the addicted rats.Methods Rat models of morphine addiction were established.The proteins in the PFC underwent two-dimensiona1 gel electrophoresis with immobiline pH gradient isoelectric focusing as the first and vertica1 SDS-PAGE as the second dimension.Analysis of 2-DE maps was used to determine differential expressions of proteins between the two groups by ImageMaster 2D Platinum v5.0,and four protein spots expressed differently were picked up for further identification by MALDI-TOF-MS.Results Matched and compared with those of control group,87 protein spots had been determined with differently expressive levels in morphine addiction group.By MALDI-TOF-MS,two protein spots of them had been identified as Snap25 Isoform ?-Snap 25 of Synaptosomal-associated protein 25 and Actb Actin,cytoplasmic 1.Conclusions There is obvious difference in expressive proteomes in PFC between normal and morphine-addicted rats. The functions of those identified proteins are involved in cell growth,apoptosis,differentiation,signal transduction,axon growth and cellular energy metabolism,so proteomics can serve as a new approach in the study of morphine dependence to discover new therapeutic targets.