A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1

Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs’ proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder.     

葡聚糖硫酸钠致溃疡性结肠炎小鼠模型的建立

目的　建立小鼠溃疡性结肠炎模型。方法　给小鼠自由饮用5％葡聚糖硫酸钠（DSS）溶液7d后,改为蒸馏水自由饮用10d,如此进行4个循环,每天观察症状。在第1个循环和第4个循环后剖杀小鼠,取出整段结肠行实体显微镜观察及切片组织学研究。结果　所观察的症状、实体显微镜像、组织学病理改变均与人类溃疡性结肠炎类似。结论　此模型制作方法简便,重复性良好,可应用于多种实验研究。     

Effects of Platelet Factor 4 on Expression of Bone Marrow Heparan Sulfate in Syngenic Bone Marrow Transplantation Mice

Platelet factor 4 ( PF4) is a negativehematopoietic factor.It can inhibit the prolifera-tion of endothelial cells and hematopoietic stem/progenitor cells,particularly megakaryoryocyticcells,reversibly[1] ,inhibit DNA synthesis,blockcell cycle progression during S phase and reducethe sensibility of normal hematopoietic stem/pro-genitor cells,but not some cancer or leukemia celllines,to cytotoxic drugs and ionizing radia-tion[2 - 3] ,and it also can cause a population in-crease of the stem cel…     

Flerobuterol: a potential antidepressant drug related to β-adrenergic agonists. Experimental profile in mice

The potential antidepressant effect of flerobuterol (dl-(fluoro-2 phenyl)-1 t-butylamino-2 ethanol), a new drug related to beta-adrenoceptor agonists, was evaluated and compared with imipramine and salbutamol using classical psychopharmacological tests in mice. Like imipramine and salbutamol, flerobuterol (0.5-32 mg kg-1, ip) fully prevented apomorphine (16 mg kg-1, sc)- and partly reversed reserpine- and oxotremorine-induced hypothermia. At higher doses (16-32 mg kg-1), flerobuterol enhanced the toxic effects of yohimbine. Unlike imipramine, flerobuterol and salbutamol did not reduce immobility duration in the behavioural despair test. Salbutamol and flerobuterol decreased locomotor activity. Flerobuterol did not induce mydriasis, did not prevent oxotremorine-induced tremors or salivary and lacrimal gland secretion and did not reduce reserpine-induced palpebral ptosis. Propranolol (8 mg kg-1, ip) but not alpha-methyl-paratyrosine (75 mg kg-1, ip) prevented the flerobuterol-induced antagonism of apomorphine-induced hypothermia. Our results suggest that flerobuterol demonstrates potential antidepressant activity, which could be related to beta-adrenoceptor activation in mice.     

保留冠状动脉的猪心螺旋形心室肌带的解剖

Objective Based on the Helical Ventricular Myocardial Band (HVMB) theory proposed by Torrent-Guasp,the ventricular myocardial hand extends from the root of the pulmonary artery to the root of the aorta with two helical coils.This new theory is considered as a revolutionary concept for further understanding the global, three-dimensional and functional architecture of the ven- tricular myocardium. No repot had described techniques for disecting HVMB while keepin～ the integrity of the coronmy artery sys- tern. We explored techniques for dissecting HVMB in swine.Methads 33 fresh swine hearts were randomly divided intoll groups, 3 bearts in each. 160% barium sulfate (type I)suspmmion was injected into the coronary artery system. The coronary arteries were li- gated. The strial tissue was removed following puuing the hearts in boiling water then cooling for several hours. The superficial coro- nary vessels and fat tissue around the atrio-ventricular taxi inter-ventricular sulcus we～'e preserved. Some branches of the left anterior descending artery, distal segment, of posterior descending branch, and middle and distal segment of obtuse marginal branches were mu- tilated appropriately. HVMB dissection was completed with fingers in accordnce with Torrent Guasp' s technique. Results A contin- ued bundle of muscle, originated at the root of pulmonary artery and ended at the root of aorta, was unwrapped along the major dire- tion of the cardiac muscle fiber in all of the 33 hearts with spating of the coronary artery. The swine hearts' ventricular myocandium was cumosed of two loops, with basal loop firm the root of the pulmonart artery to the anterior papillary muscle and apical from the beginning of the anterior papillary muscle to the root tithe aorta. Each loop consisted of two segments: the right segment-coincid- ing with the right ventricular free wall and the left segment-coinciding with the basal d the left ventricular free wall. Posterior papillary muscle, which belongs to the descendant segment, denmrcated the border between the descendent and the ascendant of the HVMB's apical loop. Conclusion Although controversies about the theory of the HVMB remain, we have dissected the HVMB in the swine hearts' ventricular myocardium successfully with sparing of the coronary artery systems. This dissection procedure provides technical information for the studies of associated diseases based on the theory of HVMB.     

硫酸铁铵催化合成乙酰乙酸乙酯乙二醇缩酮

采用正交试验优选出最佳条件为：当乙酰乙酸乙酯为0.2moL时，硫酸铁铵0.7g，环乙烷10mL。乙酰乙酸乙酯和惭二醇摩尔比为1：1.5，反应时间为5h。所得产率为59.2%。     

The in vitro elution characteristics of vancomycin and tobramycin from calcium sulfate beads

The purpose of this study was to determine the elution characteristics of vancomycin and tobramycin when mixed with calcium sulfate to form antibiotic beads. Calcium sulfate was combined with vancomycin and tobramycin separately to form 2 types of antibiotic beads, which were packaged and labeled separately. The packaged calcium sulfate beads with vancomycin and tobramycin were then gas sterilized. The beads were placed in phosphate-buffered saline and kept at 36 degrees C for 6 weeks. Two separate series of assays were run simultaneously for both types of beads. In one assay, a bead containing vancomycin was placed in a fresh vial of phosphate buffered saline after each assay. The same was done with beads containing tobramycin. In the second series of assays, 9 vials of phosphate buffered saline each containing 1 vancomycin bead and 9 vials of phosphate buffered saline each containing 1 tobramycin bead was arranged. The phosphate-buffered saline was then assayed at predetermined times for both the vancomycin bead series and the tobramycin bead series. The amount of vancomycin and tobramycin assayed nearly equaled the calculated amount of antibiotic per bead measured before bead construction. Also, the elution of antibiotic from the calcium sulfate was complete within 72 hours. In conclusion, the construction and gas sterilization of calcium sulfate beads containing vancomycin and tobramycin does not destroy vancomycin and tobramycin. Also, the complete elution of available vancomycin and tobramycin in calcium sulfate beads occurs within 72 hours.     

猪喉软骨硫酸软骨素的制备和自由基清除活性

直接用木瓜蛋白酶水解软骨,三氯醋酸除蛋白质,乙醇沉淀干燥得硫酸软骨素粗多糖,经DEAE-Sepharose fast flow离子交换层析分离纯化,高效凝胶渗透色谱和琼脂糖凝胶电泳测定其相对分子质量和纯度,比较硫酸软骨素粗品和纯品的体外自由基清除活性。结果显示硫酸软骨素粗品和纯品提取率分别为31.56±0.46%和19.79±0.78%,后者相对相对分子质量为75 174,粗品的DPPH.和.OH清除活性最强,随着产品纯度的提高,活性降低,而对于O2-.清除活性结果则相反。     

Drug Induced Acute Generalized Exanthematous Pustulosis

A 62-year-old woman with diabetic triopathy developed widespread erythematous macules, numerous pustules, and a high fever after she underwent electric coagulation for vitreous hemorrhage. She was administered several drugs at that time. After discontinuation of the drugs, the eruption disappeared, and the fever returned to normal within two weeks. A positive patch test with isepamicin sulfate highly suggested that the symptoms described above were due to drug allergy. Cadralazine, which was positive in the drug lymphocyte stimulation test (DLST), could not be excluded from the causative drugs. A false-positive DLST with ofloxacin was confirmed by an accidental challenge test. To our knowledge, this is the first report of acute generalized exanthematous pustulosis due to isepamicin sulfate and/or cadralazine.