妊娠丢失夫妇染色体核型分析的临床意义

目的探讨染色体异常与妊娠丢失的关系。方法收集260对妊娠丢失夫妇的临床资料,采用传统的细胞遗传学方法进行外周血淋巴细胞培养和染色体核型分析。结果48例标本染色体异常,发生率为18．5％（48／260）,包括28例（58．3％）结构异常、18例（37．5％）多态性改变、2例（4．2％）数目异常。染色体结构异常主要是平衡易位（71．4％,20／28）。偶发性与复发性妊娠丢失（RPL）夫妇之间的染色体异常发生率差异无统计学意义（P〉0．05）。结论染色体异常可导致妊娠丢失,平衡易位是其主要原因,夫妇双方孕前进行染色体检查有助于优生指导。     

不良孕育史夫妇484例染色体分析

目的：分析不良孕育史夫妇的染色体,探讨遗传因素在不良孕育中的重要性。方法通过对484例有不良孕育史夫妇外周血淋巴细胞进行培养、常规制备染色体、G显带（必要时做C带或N 带）、进行染色体核型分析。结果484例不良孕育史夫妇中,染色体异常核型13例（2．7％）,其中染色体数目异常3例,结构异常10例。多态性变异75例（15．5％）。结论对有不孕不育史的夫妇进行染色体分析,有利于优生优育和提高人口素质。     

乌鲁木齐地区114例大Y染色体的临床效应分析及内分泌紊乱

目的 探讨Y染色体核型变异的临床意义.方法 常规外周血细胞培养和染色体标本制备,并对染色体核型进行分析.结果 114例大Y染色体患者中生精异常22例(包括少精、弱精、无精)、外生殖器发育不良2例、其妻习惯性流产56例、胎停育22例、有其他不良孕产史12例(包括出生缺陷、死胎、早产等);男性的不育除性或常染色体结构、数目异常及Y多态性外与性激素水平亦有明显的关系.与正常对照组发生率8.93％相比,差异无显著性.结论 大Y染色体会不同程度地导致临床效应.     

2830例孕中期羊水细胞染色体核型分析

目的 分析妊娠中期进行产前诊断的高危孕妇羊水细胞染色体核型,了解此期异常核型出现的频率、类型及与各种产前诊断指标的关系。方法2006年1月-2009年7月来我中心就诊的2830例有产前诊断指征的孕妇,妊娠17～24W,在B超定位下行羊膜腔穿刺术,抽取羊水细胞进行培养及染色体核型分析。结果在2830例羊水检查的标本中,发现染色体多态性110例,占3．89％,主要为1qh＋、inv（9）和Y染色体的异染色质区域的变异;发现异常核型102例。占3．60％。平衡易位为主要的染色体异常（23例）,占异常核型的22．5％（23／102）其次为非整倍体,其中,21三体占23．5％（24／102）,18三体次之,占13．7％（14／102）,其他的异常核型如罗伯逊易位、部分缺失、衍生染色体等,所占比例较小。结论通过对广东地区产前诊断高危孕妇的羊水,在有产前诊断指征的孕妇,胎儿染色体异常的发生率为3．60％,染色体平衡易位、三体、尤其21三体是妊娠中主要的异常核型,是高龄最常见的染色体异常。     

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。     

116例闭经患者外周血淋巴细胞染色体分析

目的探讨闭经患者与染色体异常的关系。方法选择闭经患者116例,其中原发性闭经98例,继发性闭经18例,对其外周血淋巴细胞培养,按常规方法G显带制备染色体（必要时行C显带或N显带）,并进行染色体的核型分析。结果116例闭经患者中发现47例染色体异常核型,占受检总数的40．52％。原发性闭经98例,异常核型44例,占44．90％;继发性闭经18倒,异常核型3例,占16．67％。无论是原发闭经还是继发闭经患者,核型为46,XX最多见69例占受检总数的59．48％。异常核型全部涉及X染色体,其中以X染色体的数目异常23例,结构发生改变6例,嵌合体18例。X染色体的数目异常中以46,XY12例和45,X8例最多见分别占受检异常核型的25．53％、17．02％。X染色体结构发生变化包括染色体等臂、缺失及倒位等,其中以核型46,X,i（Xq）染色体结构发生变化多见,嵌合体中核型45,X／46,XX占比例最高为8．51％。结论结合临床体征和染色体检查,不仅为闭经患者寻找病因提供理论依据,而且有利于指导闭经患者的治疗。     

高危风险孕妇绒毛染色体异常发生率探讨

目的 探讨先兆流产、自然流产和染色体异常发生率之间的关系。方法 对１５７例孕妇早期流产绒毛进行染色体分析。结果 有风险孕妇流产绒毛染色体异常发生率为１５．５２％,正常对照组染色体异常发生率为５．２６％,两组差异显著（Ｐ〈０．０５）。结论 研究表明先兆流产、自然流产与染色体异常的发生有直接关系,在临床遗传咨询及产前诊断时应予以高度重视。     

t（8；21）急性髓系白血病的特征及预后分析

目的探讨t（8;21）急性髓系白血病的特征及预后。方法回顾性分析80例初治t（8;21）AML患者,包括细胞遗传学G显带核型、免疫表型、细胞形态学、AMLl／ETO融合基因、血象、乳酸脱氢酶（LDH）值及临床特征,并分析其预后因素。按染色体核型把患者分为单纯t（8;21）组（48例）、伴附加染色体异常组（32例）。结果80例t（8;21）AML患者中M：77例,M4 1例,M4EO2例;流式细胞仪检测t（8;21）AML患者免疫分型阳性率为：CD3481．48％、CDl3：96．29％、CD33：83．33％、HLA—DR90．74％、CD19：48．15％、CD56：55．55％;遗传学：48例（60．00％）为单纯t（8,21）,32例（40．00％）有附加染色体异常,其中25例（31．25％）伴单纯性染色体丢失,7例（8,75％）为复杂变异型t（8;21）易位;初治时单纯t（8,21）组和伴有附加染色体组的年龄、性别、外周血和骨髓原始细胞数、血红蛋白（Hb）和血小板（PLT）计数、Auer小体、肝脾淋巴结浸润、LDH值、皮肤黏膜出血均无统计学意义（P均〉0．05）;伴有附加染色体组的外周血白细胞（WBC）计数和CD56阳性率均低于单纯组（P均〈0．05）。伴附加染色体组与单纯组的CR率无明显差异（P〉0．05）;伴附加异常组的中位生存时间低于单纯t（8;21）组（P〈0．05）。6例伴有髓外浸润患者的CR率和3年Os率均为0。结论伴附加染色体组与单纯t（8,21）组AML的临床特征有差异,附加染色体异常是t（8;21）AML的一种预后不良因素,伴有附加染色体异常的t（8;21）AML生存时间短于单纯t（8;21）者。     

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。     

6 600例不孕症患者细胞遗传学分析

目的 对不孕症患者进行细胞遗传学检测,为研究染色体异常、染色体多态性与生育力异常之间的关系提供数据支持。方法 对2010~2018年在安徽医科大学第一附属医院生殖中心就诊的6 600例不孕症患者的染色体核型进行回顾性分析,按性别分组,并将男性组进一步分为精液正常组、少弱畸精症组和无精症组,分别统计各组中各类染色体异常情况,进行组间比较。结果 染色体异常患者共353例,占总数的5.35%,染色体结构异常中的平衡异位为最多的异常类型,占染色体异常的55.81%,男性患者染色体异常率高于女性患者,男性患者中无精症组异常率最高,少弱畸精症组异常率次之,精液正常组异常率最低;染色体多态性患者共877例,占13.29%,常染色体异染色质多态性为主要多态性类型,占多态性的57.20%,男性患者多态性发生率高于女性患者。结论 不孕症患者中染色体异常和染色体多态性发生率较高。     

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.