CD40L基因c.509A>G突变的X连锁高IgM综合征1例

1病例资料患儿,男,4岁5月龄,以“口唇苍白10余天、腹泻1周余”为主诉于2020年8月26日就诊于我院。患儿于10余天前无明显诱因出现口唇苍白,伴活动后乏力,无发热、咳嗽、流涕,无头痛、晕厥,无鼻衄、血尿、黑便。1周前患儿出现腹泻,稀水至稀糊状,5?6次/天,无粘液脓血便,伴低热,体温最高37.5℃,半天前至我院门诊就诊,查血常规:白细胞2.82×10^(9)/L,中性粒细胞百分比28.0%,淋巴细胞百分比47.9%,血红蛋白50g/L,血小板522×10^(9)/L.

Role of Plain Abdominal X-Ray in the Differential Diagnosis of Common Acute Abdominal Conditions in Children at Olabisi Onabanjo University Teaching Hospital, Sagamu, Ogun State, Nigeria

Background: The plain abdominal x-ray is one of the commonly requested investigations in the children emergency room, paediatric surgical ward and neonatal wards. The short interval required to carry out this investigative procedure and obtain results makes it the first imaging modality used to unravel the different causes of acute abdominal conditions in children. The safety of abdominal x-ray in children makes it attractive for use in paediatric surgical practice as part of routine work-up for undifferentiated acute abdominal conditions and also to diagnose specific causes of acute abdomen in children. Setting: Olabisi Onabanjo University Teaching Hospital, Sagamu, Ogun State. Objectives: Evaluation of the role of plain abdominal x-ray in diagnosing common acute abdominal conditions in children. Materials and method: Patients admitted to the children emergency room, paediatric surgical wards, children’s ward and neonatal ward who had plain abdominal x-ray as part of their diagnostic work-up were included in the study. They were studied prospectively between March 2011 and April 2021. Results: Three Hundred and Ninety-nine patients who had plain abdominal x-rays as part of their diagnostic work-up were studied. Males were 240 while females were 159, a male to female ratio of 1.5:1. The patients were aged between 1 day to 16 years. Differential diagnoses made with plain abdominal x-ray were intestinal obstruction in 298, perforated viscus 69 patients, intra-abdominal masses 13 patients and location of intra-abdominal foreign body 14. Intestinal obstruction cases in which plain abdominal x-ray played a role in their diagnosis and management included the following: intussusception 66, neonatal sepsis 60, malrotation 48, intestinal atresia 42, anorectal malformation 32, hirschsprung’s disease in 30 cases, pyloric stenosis 24, obstructed hernia 22, post-operative adhesions 16 and intestinal helminthiasis 12. Perforated viscus accounted for 69 indications. Out of these indications, perforated gut in intussusception 19, perforated typhoid ileitis was responsible in 13 cases, gut perforation in blunt abdominal trauma 8, perforation in strangulated hernia 11 cases, perforated gut in malrotation 7, ceacal perforation in hirschsprugs disease 6 and colonic perforation in necrotizing enterocolitis 5 cases. Conclusion: Plain abdominal x-ray remains a role to play in the differential diagnosis and management of common paediatric acute abdominal conditions.

P2X receptors in maintenance and differentiation of neural progenitor cells

Purinergic receptors are among the first cell surface receptors expressed during embryonic development （Burnstock and Ulrich, 2011）. These are characterized based on their pharmacological properties of being activated by adenosine or purine/pyrimidine nucleotides as P1 and P2 receptors. P2 receptors are further classified by their structure as P2Y metabotropic and P2X ionotropic receptors.

Changes of the expression of CCNL2 gene during the differentiation of P19 cells to cardiac myocytes

Objective： To investigate the changes of cyclin L2（CCNL2） gene mRNA and protein during the differentiation of P19 cells to cardiac myocytes, and to explore the relationship between CCNL2 gene and the differentiation of cardiac myocytes. Methods： P19 cells were cultured with 0.9% DMSO for 18 days. Western blots of cardiac troponin I （cTnI） were used to identify cell differentiation. Total RNA was extracted from P19 cells during the process of differentiation at various time points：pre-differentiation（Day 0）, and Day 1 to Day 18. The expression levels of CCNL2 gene mRNA and protein were evaluated by RT-PCR and Western blot, respectively. Results： After being induced to differentiate by DMSO for 4 days in suspension, spontaneously and rhythmically beating ceils were seen at 8 day, which were cTnI-positive. In P19 cells, both the expression level of CCNL2 gene mRNA and protein were gradually down-regulated. Conclusion： Both the expression of CCNL2 gene and protein were down-regulated during the process of the differentiation of P19 cells into cardiac myocytes, suggesting a possible role for this cyclin in their differentiation.

Population genetic diversity and regional differentiation of Chinese forest frog s (Rana chensinensis) in Heilongjiang Province

The Random Amplified Polymorphism DNA (RAPD) markers were used to stu dy the intra-specific diversity and regional differentiation of the Chinese fore st frogs (Rana chensinensis), which were sampled from the fields of 8 regions in Heilongjiang Province. Totally 78 polymorphic DNA loci were amplified by 10 RAP D primers. By genetic distance analysis and phylogenetic tree reconstruction wit h the Neighbor-Joining (NJ) method the results showed that the populations of Ch inese forest frogs distributed in 8 regions existed great differentiation (Avera ge Fst=0.347, SD=0.235) while there was the paradox between geographic distances and genetic distances. Based on geographic and geological data, a hypothesis wa s posed that it is very possible that the hilly lands in the downstream of the S onghua River and the Heilong River were the center of the origin of the Chinese forest frogs in Heilongjiang Province. And mainly through the Songhua River syst em, the Chinese forest frogs dispersed into the Songneng Plain from the Sanjiang Plain whereas the Fangzheng region became a sub-center for the western dispersi on.

共刺激分子OX40和OX40L在重症手足口病患儿外周血中的表达及意义

目的 研究重症手足口病(HFMD)患儿外周血中共刺激分子OX40、OX40L的表达并探讨其临床价值。方法 选取2019年1月至2022年8月郑州大学附属儿童医院收治的肠道病毒71型(EV71)感染并确诊为HFMD的144例患儿,根据病情轻重程度分为轻症组(95例)及重症组(49例)。同时选取50例同年龄段健康体检儿童为对照组。检测所有入组儿童外周血标本中CD4^(+) T细胞OX40及CD14^(+)单核细胞上OX40L的表达。对HFMD患儿进行小儿危重病例评分(PCIS),分析HFMD患儿PCIS与OX40和OX40L表达间的相关性。结果 HFMD患儿的OX40和OX40L的表达水平均高于对照组,其中重症组最高(P<0.05);相关性分析显示,HFMD患儿OX40的表达与PCIS有相关性(r=-0.729,P<0.05)。比较外周血OX40、OX40L、白细胞计数(WBC)和白介素-6(IL-6)对重症HFMD的诊断效能,OX40的曲线下面积(AUC)最大,为0.844(95%CI:0.780~0.908),诊断重症HFMD效能较高。结论 OX40、OX40L在HFMD患儿的外周血中表达升高,在HFMD发病过程中发挥重要作用,且OX40可能与疾病的严重程度相关,可作为重症HFMD的预测指标之一,对早期识别重症HFMD患儿具有重要意义。

Identification of Differentially Expressed Genes in Sweetpotato Storage Roots Between Kokei No.14 and Its Mutant Nongdafu 14 Using PCR-Based cDNA Subtraction

The contents of earotenoids in the storage root of sweetpotato, Ipomoea batatas （L.） Lam. vary dramatically among different cultivars. However, so far little is known about the regulation of carotenoids synthesis in sweetpotato. In our laboratory, we identified a novel sweetpotato mutant, Nongdafu 14, which is a homogenous mutant derived from the wild type Kokei No. 14. The contents of carotenoids in the storage root of Nongdafu 14 were analyzed using high performance liquid chromatography （HPLC）, and it was found that the amount of carotenoids, [3-carotene, lutein and zeaxantion, three major types of earotenoids in sweetpotato storage roots, increased 2-26 folds in Nongdafu 14 compared to Kokei No. 14. Suppression subtractive hybridization （SSH） was used to identify genes that were differentially expressed in Nongdafu 14, and a differentially expressed eDNA library was constructed using the eDNA of Nongdafu 14 storage roots as tester and that of Kokei No. 14 storage roots as driver. Out of the 1 530 clones sequenced, we identified 292 nonredundant ESTs. GO and KEGG analyses of these differentially expressed ESTs indicated that diverse metabolism pathways were affected and candidate genes involved in regulation of carotenoids synthesis are suggested.

Promoter and coding sequence diversity of CsCCD1 may contribute to the differential accumulation of floralβ-ionone in fresh tea leaves

The carotenoid-derived volatileβ-ionone makes an important contribution to tea fragrance.Here,we qualitatively and quantitatively analysed 15 carotenoids in tea leaves of 13 cultivars by UHPLC-APCI-MS/MS.The 13 cultivars were divided into two groups by PCA(Principal Component Analysis)clustering analysis of their carotenoid content,and OPLS-DA(Orthogonal projections to latent structures)indicated that the levels ofβ-carotene(VIP=2.89)and lutein(VIP=2.30)were responsible for much of the variation between the two groups.Interestingly,theβ-carotene toβ-ionone conversion rates in Group 1 were higher than in Group 2,while theβ-carotene content was significantly lower in Group 1 than in Group 2.Theβ-ionone content was significantly higher in Group 1.Pearson Correlation Coefficient calculation between the transcription level of candidate genes(CsCCD1 and CsCCD4)and the accumulation ofβ-ionone indicated that CsCCD1 may involve in the formation ofβ-ionone in 13 cultivars.Prokaryotic expression and in vitro enzyme activity assays showed that‘Chuanhuang 1’had an amino acid mutation in carotenoid cleavage dioxygenases 1(CsCCD1)compared with‘Shuchazao’,resulting in a significantly higherβ-ionone content in‘Chuanhuang 1’.Sequence analysis showed that‘Chuanhuang 1’and‘Huangdan’had different CsCCD1 promoter sequences,leading to significantly higher CsCCD1 expression andβ-ionone accumulation in‘Chuanhuang 1’.These results indicated that the promoter and coding sequence diversity of CsCCD1 might contribute to the differential accumulation ofβ-ionone in different tea cultivars.

API 5L X56管中管横向冲击性能的数值研究

随着海洋石油行业的蓬勃发展,油气田开发不断向深海发展,对海底管道性能的要求也不断提高。管中管具有良好的保温性能而逐渐得到应用;为系统地研究管中管结构的横向抗冲击性能,采用非线性有限元程序建立了数值模型,并与试验数据进行验证。参数化研究发现,一定冲击能量下,聚氨酯泡沫所吸收的能量与管中管的内管和外管所吸收能量的总和相比所占比重较小;随管中管壁厚和钢材等级的提高,管道的局部凹陷程度降低,海底管中管抵抗冲击变形的能力越强;随管中管悬跨长度增加,管中管跨中截面的残余位移逐渐增大,而横截面残余变形和局部凹陷深度逐渐减小,整体弯曲变形所占的比重逐渐增加,局部凹陷所占的比重有所减小。

X510L钢连续冷却相变动力学对改善翘曲的应用

连续冷却过程中的相变行为是决定淬火残余应力的关键要素。通过相变行为研究和显微组织观察研究了X510L钢连续冷却转变动力学规律。结果表明:冷速是决定相变动力学最关键的影响因素。随冷速增大,铁素体相变开始温度降低,相变时间缩短,且前期转变快于后期。建立了考虑冷速的铁素体相变动力学模型:ξ=1-exp[-b(Fs-T)(f(v))],弥补了传统相变动力学方程不考虑冷速影响的缺陷,模型中材料参数n对相变过程的影响更显著。运用上述相变动力学方程,结合现场实际冷却工艺分析X510L钢翘曲缺陷形成的原因,提出了基于铁素体钢翘曲控制的F7出口速度与冷速的匹配原则,并确定当F7出口速度为8 m/s时,将冷速范围设定为14.3~20℃/s可以避免X510L钢出现翘曲缺陷。借鉴上述方法,可以避免铁素体钢由于冷速设定不合理所导致的翘曲缺陷。

Differential Expression Analysis of Genie Male Sterility A/B Lines in Chinese Cabbage-Pak-Choi (Brassica campestris ssp. chinensis Makino)

To determine differential expression of genie male sterility A/B lines in Chinese cabbage-pak-choi (Brassica campestris ssp. chinensis Makino var. communis Tsen et Lee), we used the RNA fingerprinting technique, cDNA-AFLP analysis, in different developmental stages and different tissues. While no obvious differential expressions were observed in rosette leaves, florescence leaves, and scapes, some differential expressions were found in alabstrums of A/B lines and among leaves, scapes and alabstrums. We analyzed the al-abstrums collected in different developmental stages with 10 primer combinations. We got a unique band between middle size alabstrums and large alabstrums in B line in one of the ten pair primers, and in another one pair, one band reflecting a higher gene-expression level in A line than that in B line was obtained. No unique bands were found with the other primer combinations. The bands reflecting different gene-expression level were confirmed by Northern hybridization. The results indicated that cDNA-AFLP was a suitable tool for studying differential expression of genie male sterility in plants. SDS-polyacrylamide gel electrophoresis patterns of soluble proteins further verified the difference in A/B lines.

DIFFERENTIAL SCANNING CALORIMETRY AND X-RAY DIFFRACTION STUDIES ON AGING BEHAVIOR OF Zn-Al ALLOYS

Decomposition processes of the quenched Zn-Al alloys were studied by differential scanning calorimetry (DSC), X-ray diffraction (XRD) and transmission electron microscopy (TEM). The results show that the stabilities of supersaturated solid solution (SSS) of Zn-Al alloy and α' phase formed by quenching would reduce with the increase of Zn content and the precipitation of η-Zn phases even when aging at ambient temperature, so that the exothermic precipitation peak in DSC curve would disappear. The activation energy of the η-Zn precipitation and the reaction enthalpy were calculated and measured. The kinetics of α' decomposition or η-Zn formation was determined by XRD. The microstructure change during aging was observed by TEM.

Cisplatin increases carboxylesterases through increasing PXR mediated by the decrease of DEC1

cis-Diamminedichloroplatinum(CDDP)is widely used for the treatment of various solid cancers.Here we reported that CDDP increased the expression and enzymatic activities of carboxylesterase 1(CES1)and carboxylesterase 2(CES2),along with the upregulation of pregnane X receptor(PXR)and the downregulation of differentiated embryonic chondrocyte-expressed gene 1(DEC1)in human hepatoma cells,primary mouse hepatocytes,mouse liver and intestine.The overexpression or knockdown of PXR alone upregulated or downregulated the CES1 and CES2 expression,respectively.The increases in CES1 and CES2 expression levels induced by CDDP abolished or enhanced by PXR knockdown or overexpression,implying that CDDP induces carboxylesterases through the activation of PXR.Likewise,the overexpression or knockdown of DEC1 alone significantly decreased or increased PXR and its targets.Moreover,the increases of PXR and its targets induced by CDDP were abolished or alleviated by the overexpression or knockdown of DEC1.The overexpression or knockdown of DEC1 affected the response of PXR to CDDP,but not vice versa,suggesting that CDDP increases carboxylesterases by upregulating PXR mediated by the decrease of DEC1.In addition,CDDP did not increase DEC1 mRNA degradation but suppressed DEC1 promoter reporter activity,indicating that it suppresses DEC1 transcriptionally.The combined use of CDDP and irinotecan had a synergistic effect on two cell lines,especially when CDDP was used first.

A new method of detecting interferogram in differential phase-contrast imaging system based on special structured x-ray scintillator screen

An x-ray scintillator screen with a special structure, functioning as detector and analyser grating, was proposed for collecting the interferogram of differential phase contrast imaging without absorption grating and difficulty of fabrication by a state of the art technique. On the basis of phase grating diffraction, a detecting model of the scintillator screen was built for analysing the phase and absorption information of objects. According to the analysis, a new method of phase retrievals based on two-images and the optimal structure of screen were presented.

闭合复位L形切开解剖型锁定钢板固定治疗跟骨Essex-LoprestiⅡ型Ⅲ度舌型闭合性骨折

目的 探讨闭合撬拨复位L形切开解剖型锁定钢板固定治疗跟骨Essex-LoprestiⅡ型Ⅲ度舌型闭合性骨折的疗效。方法 2013年1月-2023年1月,对14例(15足)跟骨Essex-LoprestiⅡ型Ⅲ度舌型闭合性骨折患者,在C型臂X线机透视下行舌型骨折块斯氏针闭合撬拨复位,临时固定。跟骨外侧L形切开,跟骨外侧面软组织连同骨膜整体锐性剥离,形成全厚皮瓣并翻开,显露骨折及距下关节。选择大小合适解剖型锁定钢板紧贴跟骨外侧锁定,取出临时固定的斯氏针,更换为松质骨螺钉固定舌型骨块。术后随访,观察伤口愈合情况,并采用(American Orthopaedic Foot and Ankle Society,AOFAS)踝-后足评分标准评定跟骨骨折复位、愈合、跟骨宽度高度及跟距关节活动等情况。结果 14例患者均未出现皮肤切口、骨折感染。仅有1例切口皮缘出现部分坏死,经局部换药治疗3周后痊愈。术后Bohler角26°~38°,平均32°±1°,术后Gissine角96°~105°,平均100°±1°;跟骨宽度高度正常,未发现足内翻及外翻畸形;踝关节、距下关节活动未见异常。随访11例患者(3例失访),AOFAS踝-后足评分标准评定为86~95分,平均(91±1)分。结论 闭合撬拨复位L形切开解剖型锁定钢板固定治疗跟骨Essex-LoprestiⅡ型Ⅲ度舌型闭合性骨折,骨折复位相对微创、固定牢靠,可缩短手术时间,术后并发症少,患者可早日下床活动,疗效满意,值得临床推广应用。

植物乳植杆菌NXU0011发酵枸杞产物对溃疡性结肠炎小鼠代谢物质的影响

为探究植物乳植杆菌NXU0011发酵枸杞产物对溃疡性结肠炎小鼠代谢物质的影响,以葡聚糖硫酸钠(dextran sodium sulfate,DSS)诱导的溃疡性结肠炎模型小鼠为研究对象,将其分为模型组(DSS组)、空白组(Con组)、药物组(MS组)、植物乳植杆菌NXU0011发酵枸杞产物冻干粉干预组(LP+Ly组),基于非靶向代谢组学技术,对其血清进行差异代谢物质分析。在正离子模式下,鉴定出4组样本间共有381种差异代谢物,其中MS、DSS比较组样本间差异代谢物有56种,LP+Ly、DSS比较组样本间差异代谢物有87种。对Con组和LP+Ly组与DSS组显著差异代谢物进行京都基因与基因组百科全书富集分析,筛选出精氨酸生物合成、维生素消化和吸收两条富集率较高的代谢途径。本研究可为乳酸菌发酵枸杞产物改善溃疡性结肠炎提供参考依据。

Rheum palmatum L. and Salvia miltiorrhiza Bge. Alleviates Acute Pancreatitis by Regulating Th17 Cell Differentiation: An Integrated Network Pharmacology Analysis, Molecular Dynamics Simulation and Experimental Validation

Objective: To identify the core targets of Rheum palmatum L. and Salvia miltiorrhiza Bge.,(Dahuang-Danshen, DH-DS) and the mechanism underlying its therapeutic efficacy in acute pancreatitis(AP)using a network pharmacology approach and validate the findings in animal experiments. Methods: Network pharmacology analysis was used to elucidate the mechanisms underlying the therapeutic effects of DH-DS in AP. The reliability of the results was verified by molecular docking simulation and molecular dynamics simulation.Finally, the results of network pharmacology enrichment analysis were verified by immunohistochemistry,Western blot analysis and real-time quantitative PCR, respectively. Results: Sixty-seven common targets of DH-DS in AP were identified and mitogen-activated protein kinase 3(MAPK3), Janus kinase 2(JAK2), signal transducer and activator of transcription 3(STAT3), protein c-Fos(FOS) were identified as core targets in the protein interaction(PPI) network analysis. Gene ontology analysis showed that cellular response to organic substance was the main functions of DH-DS in AP, and Kyoto Encyclopedia of Genes and Genomes analysis showed that the main pathway included Th17 cell differentiation. Molecular docking simulation confirmed that DH-DS binds with strong affinity to MAPK3, STAT3 and FOS. Molecular dynamics simulation revealed that FOS-isotanshinone Ⅱ and STAT3-dan-shexinkum d had good binding capacity. Animal experiments indicated that compared with the AP model group, DH-DS treatment effectively alleviated AP by inhibiting the expression of interleukin-1β, interleukin-6 and tumor necrosis factor-α, and blocking the activation of Th17 cell differentiation(P<0.01). Conclusion: DH-DS could inhibit the expression of inflammatory factors and protect pancreatic tissues,which would be functioned by regulating Th17 cell differentiation-related m RNA and protein expressions.

Apium graveolens L. accelerating differentiation of neural stem cells in vitro

To evaluate the action of Apium graveolens L. on the growth and differentiation of neural stem cells （NSCs）, cells culture and animal experiment were performed. NSCs were isolated from the striatum of SD rat embryo were cultured in the medium containing aqueous extract from Apium graveolens L（AAG）.and/or the serum derived from mice treated with Apium graveolens L （SAG）. The results show that AAG promoted the survival and growth of NSCs in low concentration. Apium graveolens L. leaves aqueous extract promoted the proliferation of NSCs in relatively high concentration. SAG significantly accelerated the differentiation of NSCs.

Effects of Different Hormone Proportions on Differentiation and Regeneration of Prtmus avium L. Adventitious Buds

In order to screen the appropriate culture condition for the differentiation and regeneration of Prtmus avium L. adventitious buds, in this study, the effect of different hormone proportions on differentiation and regeneration of shoot tip explants were investigated using Gisela No. 5 and Gisela No. 6 as experimental materi- als. The results showed that, different hormone proportions had extremely significant effects （ P 〈0.01 ） on the differentiation rate of P. avium adventitious buds; the appropriate hormone proportions for Gisela No. 5 and Gisela No. 6 to induce dedifferentiation of adventitious buds were 6-BA 3.0 mg/L ＋ IBA 0.5 mg/L ＋ KT O. 1 mg/L and 6-BA 1.0 mg/L ＋ IBA 0.5 mg/L ＋ KT 0.2 rag/L, respectively. In addition, different hormone proportions had extremely significant effects （P 〈 0.01 ） on the regeneration coefficient and regeneration rate of P. avium adventitious buds; with the hormone proportion of 6-BA 1.0 mg/L ＋ IBA 1.0 mg/L ＋ KT 0.3mg/L, the number of regenerated adventitious buds reached the maximum for both varieties.

一类漂移系数分段连续的随机微分方程驯服Euler方法的L^(p)收敛率

本文研究一类漂移系数分段连续的标量随机微分方程的驯服Euler方法的L^(p)收敛率.更确切地说,本文在漂移系数是分段连续的并且呈多项式增长,扩散系数是Lipschitz连续的并且在漂移系数的间断点处不为0的假设下,证明方程具有唯一的强解,并且对于任意的p∈[1,∞),驯服Euler方法的L^(p)收敛阶都可以达到1/2.此外,本文还提供一个数值算例来验证理论结果.