486例生殖异常患者的外周血染色体分析研究

目的探讨自然流产和不孕不育与染色体异常的关系。方法采集486例生殖异常患者外周静脉血,常规外周血淋巴细胞培养方法制备染色体标本,G显带技术进行细胞遗传学分析。结果486例生殖异常患者共检出异常核型41例,总检出率8.4%。其中,自然流产患者中检出异常20例,检出率为6.9%(20/288);不孕不育患者中检出异常21例,检出率为10.6%(21/198)。结论染色体异常是导致自然流产及不孕不育的重要原因之一,对生殖异常患者进行染色体检查可为临床诊断和优生优育提供依据。     

360例有不良孕产史及不育不孕患者的外周血染色体分析

目的探究不良孕史和不育不孕患者周围染色体的关系。方法对进入我院治疗的360例不孕不育以及不良孕史患者作为研究对象,时间2016年2月至2017年4月,将患者的外周血淋巴细胞培、制片和G显带染色体核型进行分析。结果异常核型检出17例,多态性11例,4例平衡易位,嵌合体2例。结论对于不明原因的流产、畸胎、不孕、不育以及死胎和染色体异常有关,多于不良孕产史的夫妇进行染色体核型检查是极其必要的,进行产前诊断,避免出现染色体病患儿出现,提高整体人口素质。     

435例矮小儿童染色体核型分析

目的 通过对435例身材矮小的儿童进行染色体核型分析,探讨身材矮小与染色体异常的关系.方法 对435例身材矮小患儿进行外周血淋巴细胞培养及染色体核型分析.结果 435例矮小儿童中,检出异常核型80例,占被检总数的18.4％.其中性染色体异常26例,常染色体异常54例,男性患儿30例,女性患儿50例.结论 染色体异常是引起身材矮小的重要原因之一,染色体核型分析为矮小儿童的诊断和治疗提供重要的依据.     

2040例不孕不育及不良孕育人群的染色体核型分析

目的对2040例不孕不育及不良孕育人群的外周血染色体的核型分析,探讨并总结其临床意义。方法采用外周血淋巴细胞培养的方法,制片后进行G显带技术并进行核型分析。结果发现56例核型异常的患者,男性染色体异常32例,女性染色体异常24例。明确了患者的发病原因。结论染色体异常是导致育龄夫妇不孕不育及不良孕育的重要原因,染色体检查利于优生指导。     

不孕不育病因分析及干预措施

目的探讨不孕不育的常见病因,提出适宜的干预措施。方法对本院收录的80对不孕不育夫妇病史及相关诊疗资料进行分析。结果 80对不孕不育患者中,原发不孕不育44对,占55.00%;既发不孕不育36对,占45.00%。单纯女性因素30对,占37.50%：单纯男性因素21对,占26.25%;双方共同因素29对,占36.25%。女性不孕患者中输卵管因素与内分泌因素是引起不孕的主要原因。男性不育患者中生殖道感染、精液异常成为不育的主要原因。结论不孕不育症的发病原因复杂,发病率高,危害大,应该不断加强干预措施。     

原发性闭经患者62例的细胞遗传学分析

目的:分析原发性闭经与染色体异常的关系.方法:用外周血淋巴细胞培养法检测62例原发闭经患者的外周血淋巴细胞染色体核型.结果:62例原发闭经患者检出异常核型30例,异常检出率48.04%.异常核型与性染色体数目异常、结构异常与性反转有关.结论:染色体异常是导致原发性闭经的重要原因之一,对原发性闭经患者进行细胞遗传学检查应列为常规检查项目,对闭经的病因、治疗和估计患者预后具有十分重要的意义.     

1262例孕中期羊水细胞染色体检查结果分析

目的 了解异常核型与产前诊断指征的关系,为临床遗传咨询提供依据.方法 抽取1262例有产前诊断指征的孕妇孕中期羊水,细胞培养后G显带染色,分析胎儿染色体核型,并根据不同产前诊断指征进行分组.分析不同指征的发病率,并对染色体结构异常胎儿的父母染色体进行检查,以确定结构异常来源.结果 1262例羊水细胞染色体检查者,共检出65例异常核型,异常核型发生率为5.3％.其中,以非整倍体最多见,共检出29例(44.6％);其次为染色体结构异常,共检出27例(41.5％);检出染色体多态性改变7例(10.8％).结论 不同产前诊断指征染色体异常的检出比例有所不同,说明严格把握产前诊断指征的重要性.     

岳阳地区1340例遗传咨询者外周血核型分析研究

目的 对进行辅助生殖的遗传咨询者进行外周血细胞遗传学分析,探讨生育异常与染色体核型异常的关系,为临床诊疗和遗传咨询提供依据。方法 回顾性分析2019-2021年岳阳市某医院1 340例遗传咨询患者的临床表现及外周血染色体核型异常情况。结果 1 340例患者中,异常核型检出率为2.54%(34/1 340),其中性染色体异常21例,占异常核型的61.76%(21/34);常染色体异常11例,占异常核型的32.35%(11/34);同时检出46,XY性反转1例,标记染色体1例。1 340例患者中,共检出染色体多态性变异201例,多态率为15.0%(201/1 340)。染色体多态变异以Y染色体长臂异染色质区长短和D/G组染色体随体区变异检出率最高。结论 染色体异常是导致不孕不育等生育问题的重要原因之一,临床上对生殖遗传咨询患者进行外周血染色体检查,可为临床诊断与辅助生殖技术提供依据。     

1550例遗传咨询及细胞遗传学分析

目的 总结和探讨1550例遗传咨询者中染色体异常的发生情况。方法 抽取受检者外周血，常规微量法培养及制备染色体标本，G显带运动核型分析。结果 在1550例受检查中共检出染色体异常87例，异常率为5．61％。其中有不良孕产史者833例中，染色体异常34例；不孕不育症109例中，染色体异常8例；闭经及性腺发育不良102例中，染色体异常19例，智能发育不全者172例中，染色体异常24例，其它334例中，染色体异常2例。结论 染色体异常与许多生育及发育缺陷有关，对这些患者进行染色体检查以明确诊断很有必要。     

364例遗传咨询者细胞遗传学及临床分析

目的：探讨遗传咨询者的染色体异常与临床异常的关系。方法本文对本科前来遗传咨询的364例咨询者资料进行分析,采用染色体G显带技术进行分析。结果遗传咨询的364例患者中,染色体核型异常为54例,检出率14.83%,有120例患者智力低下,发育迟缓、其异常核型有12例（10%）、104例不良孕产史,其中8例异常核型（占7.7%）,43例不孕不育,7例异常核型（16.2%）等。结论孕妇体内染色体发生异常时会造成新生儿智力低下、不孕不育、两性畸形等疾病,因此临床上应该从遗传咨询者进行细胞遗传学分析,采取有效措施进行预防,从而实现优生优育。     

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.     

Pharmacological treatment of COVID-19: an opinion paper

The precocity and efficacy of the vaccines developed so far against COVID-19 has been the most significant and saving advance against the pandemic. The development of vaccines has not prevented, during the whole period of the pandemic, the constant search for therapeutic medicines, both among existing drugs with different indications and in the development of new drugs. The Scientific Committee of the COVID-19 of the Illustrious College of Physicians of Madrid wanted to offer an early, simplified and critical approach to these new drugs, to new developments in immunotherapy and to what has been learned from the immune response modulators already known and which have proven effective against the virus, in order to help understand the current situation.     

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.