产前诊断胎儿染色体异常临床价值及对妊娠结局的影响分析

目的：探讨妊娠期胎儿染色体异常与各类高危指征之间的相关性,为提高产前诊断胎儿染色体异常的检出率提供理论依据。方法对2615例血清学筛查高危、高龄或B超提示胎儿结构异常等高危孕妇,妊娠中期通过羊膜腔穿刺抽取羊水,通过羊水细胞培养、染色体核型分析技术,对胚胎是否存在染色体核型异常进行分析。结果在2615例存在高危因素进行产前诊断的病例中,共检出异常的发生率为3．10％,胚胎存在染色体异常81例,其中三体综合征共46例,占胎儿异常核型的56．79％;性染色体数目异常共13例,占胎儿异常核型的16．05％;常染色体结构异常22例,占胎儿异常核型的27．16％。结论妊娠期母体血清学筛查出的高风险孕妇及高龄孕妇或B超发现胎儿存在器官结构的异常等高危指征的孕妇,应进行产前诊断来分析胎儿是否存在染色体异常,避免缺陷患儿出生。     

羊水细胞培养用于染色体病产前诊断分析

目的探讨羊水细胞培养对孕中期孕妇进行产前诊断的可行性及必要性,防止染色体病患儿的出生。方法对293例有产前诊断指征的孕妇进行羊膜腔穿刺,采取羊水细胞培养,制备中期染色体,分析胎儿核型,进行产前诊断。结果发现染色体异常14例,异常率4．78％,其中数目异常9例,结构异常5例,不同产前诊断指征分组中的异常率不同,以夫妇一方为染色体异常组异常率最高。结论妊娠中期对有产前诊断指征的孕妇进行羊水细胞培养染色体核型分析是产前诊断的重要手段,而血清学筛查,染色体检查和超声检查三者相互结合对于预防出生缺陷意义重大。     

产前诊断羊水细胞培养分析

目的探讨羊水细胞培养用于产前诊断的临床效果。方法对我院2006年4月至2007年12月产科门诊产前诊断指征疑有胎儿染色体异常孕妇46例,采用羊水细胞改良培养方法,进行产前诊断,分析胎儿染色体异常的主要核型与频率。结果43例羊水细胞一次培养成功率为95.6%,采用改良羊水细胞培养,培养时间缩短,检出染色体异常核型3例,异常率为6.97%。结论羊水细胞培养可有效判断分析胎儿染色体异常核型,为孕妇是否终止妊娠提供了确切依据。     

某市羊水培养产前诊断胎儿染色体核型异常的分析

目的探讨羊水培养产前诊断胎儿染色体核型异常的社会价值。方法在超声引导下,对朝阳市产前诊断分中心650例有产前诊断指征的孕妇经腹抽取适量羊水,细胞培养,染色体核型分析;同时,对不同产前诊断指征组染色体异常的检出率进行比较。结果 650例均穿刺成功,培养成功634例(成功率97.83%),染色体异常检出17例(检出率2.61%);其中不良孕产史组(13.15%)、高龄组(6.12%)和超声确诊阳性组(3.37%)染色体异常检出率明显高于血清学高危组(0.94%)(P<0.05)。结论羊膜腔穿刺羊水培养分析染色体核型异常是安全、有效的方法,能够减少出生缺陷并确定染色体异常核型;不良孕产史、高龄、超声确诊阳性及血清学高风险均为有效的产前诊断指征,不良孕产史更有预测价值,高龄是不可忽视的因素。     

妊娠中期235例羊水细胞培养分析

目的探讨妊娠中期羊水细胞培养对产前诊断的可行性进行。方法235例有产前诊断指征的孕妇．在16-24周行羊膜腔穿刺取羊水细胞培养,分析胎儿染色体核型。结果羊膜腔穿刺成功234例,成功率99．57％;羊水细胞培养成功214例．成功率91．45％;检出异常核型8例,异常检出率（3．42％）。结论有产前诊断指征的孕妇应做羊水细胞产前诊断。     

产前诊断834例临床分析

目的 通过对妊娠中、晚期高危孕妇羊水细胞或脐血染色体的核型分析,探讨产前诊断的临床价值.方法 对2009年1月～2011年10月来我院遗传咨询门诊就诊并符合产前诊断指征的834例妊娠中晚期孕妇进行羊膜腔穿刺术或脐血管穿刺术,抽取羊水或脐带血进行染色体核型分析.结果 在834例孕妇中发现染色体异常46例(5.52%).通过遗传咨询筛查出具有产前诊断适应证而行产前诊断的387例中,查出染色体异常20例(5.17%);孕期唐氏综合征高风险行产前诊断227例,查出染色体异常10例(4.41%);胎儿系统超声提示染色体可疑异常行产前诊断220例,查出染色体异常16例(7.27%).结论 遗传咨询、唐氏综合征高风险筛查和胎儿系统超声检查联合产前诊断,可提高胎儿染色体病的产前诊断率,降低出生缺陷儿的发生率.     

161例产前诊断染色体核型分析

目的分析产前诊断染色体异常核型的检出率和分布。方法 161例产前筛查高危和有产前诊断指征的患者,根据首诊孕周大小,于妊娠16~25周行羊膜腔刺抽取羊水,进行细胞培养,然后作G带核型分析。结果 161例羊水中,染色体异常核型9例（包括多态性变异3例）,异常检出率为5.6%。其中数目异常3例,占33.3%;结构异常3例,占33.3%。检出唐氏综合征3例,居检出病种首位,其中1例为筛查高危合并高龄;2例为筛查高危。结论对高危孕妇进行羊水细胞培养染色体核型分析,能有效地对胎儿染色体异常进行产前诊断。     

413例胎儿脐血染色体异常相关因素的临床分析

目的评价超声引导下脐血管穿刺术在产前诊断中的应用,探讨胎儿染色体异常的临床高危因素,提高脐血管穿刺对胎儿异常染色体核型的检出率。方法选取在我院超声引导下经腹脐血管穿刺并行染色体检查的孕妇413例,进行染色体核型分析,比较不同产前诊断指征组的异常染色体检出率及相关因素分析。结果穿刺成功率100%,胎儿脐血管穿刺的主要并发症为穿刺点出血41例,占9.92%;胎心心动过缓8例,占1.93%;胎儿丢失1例,占2.42‰。共检出异常染色体核型62例,检出率15.01%。发现同时合并两种以上指征者与胎儿染色体异常存在相关性(r=0.526,P=0.005)。结论脐血染色体核型分析能够为临床上诊断胎儿染色体异常提供可靠依据,但需要把握好手术指征及加强施术者的技术熟练程度。同时合并两种以上指征者很有必要进行产前诊断。     

产前羊水细胞培养及其异常核型分析

为在孕中期产前诊断台儿染色体异常，防止患有染色体病的胎儿出生，对８５例有产前诊断适应症的孕１３－３２周孕妇抽取羊水细胞培养，进行胎儿染色体Ｇ带核型分析，结果表明，羊水细胞增减成功率９４．３％，检出染色体异常５例。     

463例高龄孕妇产前诊断细胞遗传学结果分析

目的 通过对高龄孕妇产前诊断细胞遗传学结果分析,探讨高龄孕妇胎儿染色体异常的风险.方法 回顾性分析2018年1月-2019年12月在江西省妇幼保健院产前诊断中心进行产前诊断的高龄孕妇463例,应用染色体核型分析对胎儿染色体进行检测,统计高龄孕妇胎儿染色体核型异常的发生率及类型.结果 在463例高龄孕妇中,经染色体核型分析共发现染色体核型异常173例和染色体多态性变异4例,胎儿染色体核型异常检出率37.37％(173/463),其中染色体数目异常152例,占异常核型的87.86％(152/173);染色体结构异常21例,占异常核型的12.14％(21/173);常染色体异常147例,占异常核型的84.97％(147/173),三体综合征发生率为28.31％,占染色体异常总例数的75.73％,其中最多的是21-三体综合征,占染色体异常总例数的59.54％;性染色体异常26例,占异常核型的15.03％(26/173).结论 高龄孕妇胎儿染色体异常风险增高,故高龄孕妇及时进行产前诊断及遗传咨询十分必要.     

Efficacy of gut lavage,hemodialysis, and hemoperfusion in the therapy of paraquat or diquat intoxication

Clinical and in vitro investigations were carried out to test the efficacy of gut lavage, hemodialysis, and hemoperfusion in the treatment of poisoning with paraquat or diquat. In a patient suffering from diquat intoxication 130 times more diquat was removed by gut lavage 30 h after ingestion than was removed by complete aspiration of the gastric contents.Determination of in vitro clearances for paraquat and diquat by hemodialysis showed that, at serum concentrations of 1–2 ppm, such as are frequently encountered in poisoning in man, toxicologically relevant quantities of herbicide cannot be removed from the body. At a concentration of 20 ppm, on the other hand, hemodialysis proved to be effective, the clearance being 70 ml/min at a blood flow rate of 100 ml/min. The efficacy of hemoperfusion with coated activated charcoal was on the whole better. Especially at concentrations around 1–2 ppm, the clearance values for hemoperfusion were some 5–7 times higher than those for hemodialysis.In a patient suffering from paraquat poisoning, both hemodialysis as well as hemoperfusion were carried out. The in vitro results could be confirmed: At serum concentrations of paraquat less than 1 ppm no clearance could be obtained by hemodialysis while by hemoperfusion with activated charcoal quite high clearance values were measured and the serum level dropped down to zero.

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Zusammenfassung Klinische Untersuchungen und Laboratoriumsversuche wurden durchgeführt, um die Wirksamkeit von Darmspülung, Hämodialyse und Hämoperfusion bei Paraquat- und Deiquat-Vergiftungen zu prüfen.Bei einem Patienten wurde 30 Std nach Deiquat-Aufnahme durch Darmspülung 130mal mehr Deiquat entfernt als durch vollständige Aspiration des Mageninhaltes. In vitro-Versuche ergaben, daß bei Blutserumkonzentrationen von 1–2 ppm, die bei Vergiftungen oft gemessen werden, durch Hämodialyse keine toxikologisch relevanten Paraquat- oder Deiquat-Mengen entfernt werden können. Dagegen erwies sich die Hämodialyse bei 20 ppm und einer Blutumlaufgeschwindigkeit von 100 ml/min mit einer Clearance von 70 ml/min als wirksam. Die Hämoperfusion mit beschicheter Aktivkohle war in diesen Versuchen aber eindeutig überlegen, denn insbesondere bei Konzentrationen um 1–2 ppm waren die Clearance-Werte 5–7mal höher als bei der Hämodialyse.Die in vitro-Ergebnisse wurden bei einem Patienten mit einer Paraquat-Vergiftung bestätigt: Bei Konzentrationen unter 1 ppm war die Hämodialyse wirkungslos, während durch Hämoperfusion relativ hohe Clearance-Werte erreicht wurden, so daß der Serumspiegel rasch unter die Nachweisgrenze abfiel.

     

In vitro studies on sterically stabilized liposomes (SL) as enzyme carriers in organophosphorus (OP) antagonism

This study describes a new approach for organophosphorous (OP) antidotal treatment by encapsulating an OP hydrolyzing enzyme, OPA anhydrolase (OPAA), within sterically stabilized liposomes. The recombinant OPAA enzyme was derived from Alteromonas strain JD6. It has broad substrate specificity to a wide range of OP compounds: DFP and the nerve agents, soman and sarin. Liposomes encapsulating OPAA (SL)* were made by mechanical dispersion method. Hydrolysis of DFP by (SL)* was measured by following an increase of fluoride ion concentration using a fluoride ion selective electrode. OPAA entrapped in the carrier liposomes rapidly hydrolyze DFP, with the rate of DFP hydrolysis directly proportional to the amount of (SL)* added to the solution. Liposomal carriers containing no enzyme did not hydrolyze DFP. The reaction was linear and the rate of hydrolysis was first order in the substrate. This enzyme carrier system serves as a biodegradable protective environment for the recombinant OP-metabolizing enzyme, OPAA, resulting in prolongation of enzymatic concentration in the body. These studies suggest that the protection of OP intoxication can be strikingly enhanced by adding OPAA encapsulated within (SL)* to pralidoxime and atropine.     

Aquatic Insects and Trace Metals: Bioavailability,Bioaccumulation, and Toxicity

Abstract

The uptake of metals from food and water sources by insects is thought to be additive. For a given metal, the proportions taken up from water and food will depend both on the bioavailable concentration of the metal associated with each source and the mechanism and rate by which the metal enters the insect. Attempts to correlate insect trace metal concentrations with the trophic level of insects should be made with a knowledge of the feeding relationships of the individual taxa concerned. Pathways for the uptake of essential metals, such as copper and zinc, exist at the cellular level, and other nonessential metals, such as cadmium, also appear to enter via these routes. Within cells, trace metals can be bound to proteins or stored in granules. The internal distribution of metals among body tissues is very heterogeneous, and distribution patterns tend to be both metal and taxon specific. Trace metals associated with insects can be both bound on the surface of their chitinous exoskeleton and incorporated into body tissues. The quantities of trace meals accumulated by an individual reflect the net balance between the rate of metal influx from both dissolved and particulate sources and the rate of metal efflux from the organism. The toxicity of metals has been demonstrated at all levels of biological organization: cell, tissue, individual, population, and community. Much of the literature pertaining to the toxic effects of metals on aquatic insects is based on laboratory observations and, as such, it is difficult to extrapolate the data to insects in nature. The few experimental studies in nature suggest that trace metal contaminants can affect both the distribution and the abundance of aquatic insects. Insects have a largely unexploited potential as biomonitors of metal contamination in nature. A better understanding of the physico-chemical and biological mechanisms mediating trace metal bioavailability and exchange will facilitate the development of general predictive models relating trace metal concentrations in insects to those in their environment. Such models will facilitate the use of insects as contaminant biomonitors.     

Alzheimer’s disease – current trends in basic and clinical research. Highlights from the 16th ECNP

Advances in the molecular biological knowledge of neuronal nicotinic acetylcholine receptors (nAChRs) have led to a growing interest by the pharmaceutical industry in the development of novel compounds that selectively modulate nAChR function. The ability of (-)-nicotine, an activator of nAChRs, to enhance attentional aspects of cognition in animals and humans, to exert neuroprotective and anxiolytic-like effects, and presumably to mediate the negative correlation between smoking and Alzheimer's (and Parkinson's) Disease, has focused interest on the potential therapeutic utility of modulators of nAChR function for treatment of some of the deficits associated with these progressive, neurodegenerative conditions. Numerous compounds are known which activate nAChRs and which might serve as lead compounds toward the development of such agents. The pharmacologic diversity of neuronal nAChR subtypes suggests the possibility of developing selective compounds which would have more favourable side-effect profiles than existing agents. This broader class of agents, collectively called cholinergic channel modulators (ChCMs), is anticipated to encompass compounds which would have more favourable side-effect profiles than existing agents, which generally exhibit low selectivity. This selectivity may be achieved by preferentially activating some subtypes of nAChRs (i.e., Cholinergic Channel Activators, ChCAs) or inhibiting the function of other subtypes (Cholinergic Channel Inhibitors, ChCIs). An overview of the biology of nAChRs and the rationale for the use of ChCMs for the treatment of dementia related to neurodegenerative diseases are presented, followed by a discussion of lead compounds and compounds under consideration for clinical evaluation.     

Steroidal sapogenin contents in some domestic plants

In order to find out the values of the steroid resources for the future use. the compositions and contents of steroidal sapogenins from 13 domestic plants have been investigated. As a result,Dioscorea nipponica, D. quinqueloba andSmilax china were found to have large amount of diosgenin. And pennogenin inTrillium kamtschaticum andParis verticillata, yuccagenin inAllium fistulosum, hecogenin inAgave americana and neochlorogenin inSolanum nigum were appeared to be major steroidal sapogenins.