Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical,biochemical, and molecular genetic aspects

We report the clinical course and biochemical findings of a 10-year-old, mentally retarded girl with late-onset holocarboxylase synthetase (HCS, gene symbol HLCS) deficiency and only partial response to biotin. On treatment, even with an unusually high dose of 200mg/day, activities of the biotin-dependent mitochondrial carboxylases in lymphocytes remained below 50% of the mean control values. Not only urinary 3-hydroxyisovaleric acid excretion has been persistently elevated, but also plasma and, with even higher concentrations, cerebrospinal fluid 3-hydroxyisovaleric acid have not normalized. The unusual and insufficient response of this patient to biotin treatment can be explained by the effect of the combination of the common HLCS allele IVS10 +5 g>a on one chromosome and a truncating mutation on the other. This case illustrates mechanisms involved in the genotype-phenotype correlation that unequivocally exists in HCS deficiency.     

Skin collagen changes related to age and hormone replacement therapy.

A total of 76 nulliparous women who had been hospitalized for minor operations, classified according to age group (by decade from 20s to 60s) and 118 postmenopausal women randomly allocated to one of four groups were studied. In all, 312 skin biopsies were taken from the lower abdomen at 0 and 12 months and the skin collagen changes noted. Collagen content decreased significantly with age beyond the 40s (P < 0.001) and after the menopause (P < 0.01). The decrease was preventable by the use of hormone replacement therapy. All the therapeutic regimens induced increases in skin collagen content, whereas in the control group a significant decrease was observed (P < 0.05).     

三维超声测胎儿股容积估计胎重的价值

目的通过对57例妊娠分别使用二维、三维超声测量相关参数估计胎重，并作统计学比较，从而评价三维超声对于估测胎儿体重、诊断胎儿发育迟缓及巨大胎的优势和价值。方法对2005年10月至2006年3月间在我院分娩的57例妊娠，研究组用三维超声测胎儿股容积估计胎重，对照组用二维超声同步测量相关参数估计胎重。结果对两组估重结果与胎儿实际出生体重作相关统计学分析，研究组相关系数为0．983，对照组为0．906（P〈0．05），前者与实际体重关系更密切。结论三维超声测量胎儿股容积估测胎儿体重，较传统二维超声具有更大优势，对于发现胎儿发育迟缓（FGR）及巨大胎意义重大，有利于指导临床冶疗、选择分娩方式。     

Functional and mechanistic studies on the toxicity of deoxyguanosine for the in vitro proliferation and differentiation of human peripheral blood B lymphocytes

Deoxyguanosine (dGuo) has been implicated as the toxic metabolite causing a severe impairment of cellular immunity in children with a genetic deficiency of purine nucleoside phosphorylase (PNP). In peripheral blood T cells of normal donors both the pathway which leads to phosphorylation of dGuo (ultimately resulting in deoxyguanosine triphosphate, dGTP) and the salvage pathway which starts with degradation of dGuo by PNP (resulting in the formation of guanosine triphosphate, GTP) contribute to the inhibition of proliferation. In normal peripheral blood B cells, addition of dGuo leads to an inhibition of proliferation and differentiation. The concentrations of dGuo needed to cause a 50% inhibition are equivalent for peripheral blood T cells and B cells. Inhibition of B cell differentiation can be observed at the level of intracytoplasmic as well as secreted Ig and concerns all Ig isotypes. The early phase of B cell activation which takes place during a 24-h preculture with formalinized Cowan I Staphylococci is not affected by dGuo; it is not until proliferation and differentiation of B cells, brought about by culturing in the presence of crude concanavalin A supernatant, occurs that inhibitory effects of dGuo become evident. Addition of dGuo to B cell cultures results in an intracellular accumulation of GTP and dGTP. Addition of 8-aminoguanosine, a PNP inhibitor, next to dGuo, completely prevents the dGuo-mediated inhibition. Under these circumstances the dGuo-mediated increase in intracellular GTP is abrogated while dGTP accumulation still occurs. This indicates that the inhibitory effect of dGuo on the proliferation and differentiation of peripheral blood B lymphocytes of normal donors is independent of dGTP accumulation.     

柴胡加龙骨牡蛎汤治疗冠状动脉粥样硬化性心脏病合并焦虑抑郁研究进展

冠状动脉粥样硬化性心脏病（CHD）是全球常见的慢性病之一,焦虑和抑郁是其发生不良预后事件的潜在与关键危险因素。柴胡加龙骨牡蛎汤（CLMT）首见于《伤寒论》,为治疗少阳病兼心神逆乱证的经典名方,具备和解少阳、镇惊安神之功效。目前机制研究表明CLMT能通过调控相关信号通路、抑制相关炎症因子表达、改善氧化应激损伤、调节神经递质水平、抑制下丘脑-垂体-肾上腺轴亢进、促进骨髓间充质干细胞动员、抑制血小板活化等多途径对CHD合并焦虑抑郁发挥作用。临床研究表明CLMT对CHD合并焦虑抑郁导致的心绞痛、失眠等症状具有显著改善作用,可有效减轻患者负性情绪、改善中医证候积分、降低炎症因子水平等,且与西医常规治疗相比不良反应少,安全性较高。该文通过归纳整理近15年来中国知网（CNKI）、万方（Wanfang）、维普（VIP）、PubMed等数据库关于CLMT治疗CHD合并焦虑抑郁的文献,对其进行了机制及临床研究的综述,以期为CLMT指导CHD合并焦虑抑郁的进一步研究提供参考。     

2000~2019年4起重症监护病房火灾的分析与思考

重症监护病房(ICU)内易燃物多、高精尖设备多。为了做好其防火工作,文章搜集了2000~2019年我国境内医院ICU的4起火灾,对火灾时间、医院等级、起火部位和直接原因进行统计分析,提出了具体的防范措施。     

GDM患者脂肪组织中HMGB1表达与产后糖代谢异常的关系

目的研究脂肪组织中高迁移率族蛋白B1(HMGB1)表达增加与妊娠期糖尿病(GDM)患者胰岛素抵抗程度及产后糖代谢异常的关系。方法选择2016年10月至2019年3月期间在海安市中医院诊断为GDM并接受剖宫产的126例患者作为GDM组,选择同期在该院接受剖宫产的健康孕妇150例作为对照组,检测剖宫产当天孕妇血清HMGB1、空腹胰岛素(FINS)的含量及脂肪组织中HMBG1、胰岛素受体底物(IRS)-1、IRS-2的表达水平,计算胰岛素抵抗指数(HOMA-IR)。随访产后1年内糖代谢异常的发生情况并绘制K-M曲线。结果GDM组患者脂肪组织中HMGB1的表达水平、血清HMGB1含量及FINS、HOMA-IR水平明显高于对照组(t值分别为14.496、16.503、19.068、13.446,P<0.05),脂肪组织中IRS-1、IRS-2的表达水平明显低于对照组(t值分别为11.616、10.596,P<0.05);GDM组患者脂肪组织中HMGB-1的表达水平与血清HMGB1、FINS的含量及HOMA-IR的水平呈正相关(r值分别为0.405、0.358、0.405,P<0.05),与脂肪组织中IRS-1、IRS-2的表达水平呈负相关(r值分别为-0.278、0.255,P<0.05);经K-M曲线分析,与GDM组中脂肪组织HMGB1低表达患者比较,HMGB1高表达患者产后1年糖代谢异常累积发生率明显升高(χ^(2)=3.933,P<0.05)。结论GDM患者脂肪组织中HMGB1表达增加与胰岛素抵抗的加重、产后糖代谢异常的发生有关。     

城镇污水综合排放消毒效果实验研究

用实验的方法观察城镇污水综合排放消毒前后效果。消毒前,菌落总数为48000(cuf/ml),总大肠菌和粪大肠菌群>16000(个/L)。消毒后,菌落总数灭活率90分钟达85.93％,总大肠菌群和粪大肠菌群30分钟灭活率达98％,经统计学处理,有极显著差异。结论 加入有效氯30mg/L,消毒30分钟能达到较好效果,提示城镇污水应有效地消毒后排放。     

螺旋CT动态扫描对肝癌大血管侵犯的对比研究

目的 :进一步认识肝癌大血管侵犯的螺旋CT表现特征。方法 :75例肝癌伴大血管侵犯的病例中 ,2 6例前瞻性设计了动脉期同层面扫描加全肝门静脉期扫描的程序 ,选择兼顾病变及门静脉的靶平面 ,并与 31例双期扫描和 18例单纯门静脉期扫描的病例作对照。结果 :动脉期同层面扫描在动 静脉瘘和门静脉早显方面优于双期扫描 ,动脉期对显示大血管侵犯征象有特征性 ,癌栓在动脉期总强化率为 66 67% ( 38/ 5 7例 ) ,单纯门静脉期扫描不能显示动 静脉瘘和癌栓新生血管。结论 :动脉期同层面扫描能显示肿瘤和大血管侵犯引起的血流动力学异常 ,有助于定性和发现动 静脉瘘