健康教育在唐氏综合征产前诊断工作中的重要性分析

唐氏综合征其发病率较高,患儿的出生给社会和家庭带来巨大经济负担,是严重的公共卫生问题之一,产前筛查诊断是最好的干预措施。随着科技发展,产前筛查技术也不断更新,从20年前的单一的血清学筛查,到二联、三联、四联,及目前大规模筛查研究推荐的早中孕联合筛查。在做好对孕产妇产前筛查健康教育的同时,如何对孕产妇进行健康教育是我们护理人员关心的问题。     

Attenuation of x-ray-induced taste aversions by olfactory-bulb or amygdaloid lesions

These experiments used Sprague-Dawley derived rats to study the effects of either olfactory-bulb or amygdaloid lesions on x-ray-induced taste aversions. Sham-operated and normal subjects exposed to 60 roentgens of x-radiation following saccharin ingestion developed marked saccharin aversions while sham-irradiated controls maintained strong saccharin preferences. Olfactory-bulb lesions supported reports that bulbectomies can partially disrupt the acquisition of x-ray-induced saccharin aversions. Suggestive evidence of similar aversion disruption was also observed following amygdaloid lesions. A second experiment which produced stronger aversions showed that amygdaloid lesions can impair the acquisition of x-ray-induced saccharin aversions. This experiment also confirmed that bulbectomized subjects do develop significant aversions under appropriate conditioning parameters. Olfactory-bulb lesions approximated total bulbectomies while amygdaloid lesions were centered in the corticomedial amygdala with some damage to basolateral nuclei. Bulbectomy results are discussed in relation to nonsensory contributions of the olfactory bulbs. Amygdaloid lesions are related to possible contributions of different amygdaloid regions.     

Platelet monoamine oxidase activity in Down's syndrome

The activity of platelet monoamine oxidase in Down's syndrome cases was significantly lower than that of controls. This difference was found for both males and females, and with tyramine, tryptamine and β-phenethylamine as substrate. The K_m values of the monoamine oxidase towards tryptamine as substrate from controls and Down's syndrome patients were similar.     

Alzheimer's disease and Down's syndrome

The neuropathology of Down's syndrome at middle age is compared with that of Alzheimer's disease at that age, through a review of the published literature and from the author's personal observations. The pathological changes of Down's syndrome at middle age, i.e. the form and distribution of senile plaques and neurofibrillary tangles, and the pattern of involvement (atrophy) of neuronal systems are qualitatively the same as those of Alzheimer's disease at that age. Quantitative differences do occur and these may relate to biological or sociological variations inherent to the two parent populations. It is concluded that, in pathological terms, patients with Down's syndrome at middle age do indeed have Alzheimer's disease. Some ways in which a study of patients with Down's syndrome can give insight into the nature and development of the pathological changes of Alzheimer's disease are put forward and discussed.     

Twins discordant for Down's syndrome

An anterior twin with trisomy 21 at the time of amniocentesis was posterior at the termination of the pregnancy. Reversal of position must be considered in twin fetuses discordant for a genetic disorder.     

Down＇s综合征的临床及细胞遗传学分析

本文将近两年内遗传咨询门诊和临床送检的８０例先天愚型进行分析，８０例中男５４例，女２６例，年龄在１１小时－１４岁之间，其中标准型占８７．５％，易位型占５％，嵌合型占７．５％。     

Analysis of the modified structural state of the chromatin in Down's syndrome

The relationship between optical density (=260 nm) of the nuclear chromatin of normal human lymphocytes and lymphocytes from patients with Down's syndrome and temperature was studied. Lymphocyte nuclei from healthy donors were characterized by the presence of a low-temperature (about 70°C) absorption maximum which was absent in nuclei of lymphocytes from patients with Down's syndrome. Analysis of this relationship for particular regions of the nucleus showed the existence of at least two types of regions—those with a low-temperature absorption maximum and those without. For Down's syndrome, the content of regions of the latter type in the lymphocyte nuclei was found to be greater than normal.Laboratory of Molecular Biology, Institute of Medical Genetics, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR S. S. Debov.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 85, No. 4, pp. 471–473, April, 1978.     

Changes in lymphocyte chromatin in Down's syndrome revealed by the thermal denaturation method

A luminescence-microscopic study using acridine orange with a short-term culture of human cells showed that DNA melting profiles of the chromatin of intact lymphocytes of healthy donors are curves with maxima (F 530) in the temperature regions of 45, 65, 78, 85, 88, and 92°C (P<0.01). The melting profiles of lymphocytes of patients with Down's syndrome are curves with maxima in the temperature regions of 65, 85, 88, and 92°C (P<0.01). The absence of a decrease in the intensity of fluorescence between 78 and 85°C is evidently due to the greater degree of condensation of certain regions of the chromatin complex of the trisomic cells. The possible mechanisms of the structural changes in the interphase chromatin, of human lymphocytes under the influence of temperature are discussed.Institute of Medical Genetics, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR N. A. Yudaev.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 81, No. 6, pp. 672–674, June, 1976.     

Effect of autologous serum on the state of the interphase chromatin of the lymphocytes in Down's syndrome

A luminescence microscopic study of a short-term culture of human lymphocytes with the aid of acridine orange showed that the modified state of the interphase chromatin in patients with Down's syndrome can be partly restored to normal by incubating the patient's lymphocytes with healthy human serum. These results suggest that the component inhibiting chromatin activation is absent or qualitatively changed in the serum of patients with Down's syndrome. The incomplete restoration of the ability of the chromatin to fix the dye points to irreversible changes in the structure of the chromatin itself, in the direction of condensation.Institute of Medical Genetics, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR S. S. Debov.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 78, No. 10, pp. 97–99, October, 1974.     

Platelet abnormalities in Down's syndrome

Nine individuals with Down's syndrome and 12 normal children were studied. Platelets from Down's syndrome (DS) were smaller than normal and had reduced numbers and volumes of electron dense bodies. Whole cell and dense body calcium levels were lower than normal, while platelet surface net negative charge and anionic sites were found to be elevated in DS platelets. The findings suggest a calcium-related membrane abnormality as one of the defects in DS platelets.     

Early impairment of synaptic plasticity in patients with Down's syndrome

We investigated synaptic plasticity in persons with Down’ syndrome (DS) and control subjects used paired associative stimulation (PAS) protocol, a paradigm capable of producing long-term potentiation (LTP)-like changes in the sensorimotor system. After PAS, patients showed less LTP-like plasticity compared to control subjects. Abnormal motor cortex synaptic plasticity may play a role in the development of motor signs in DS.     

Antenatal screening for Down's syndrome in assisted reproductive pregnancies

The wide use of assisted conception methods has risen dramatically. The greater proportion of singletons, twins and high order of multiplicity conceived by those methods have already focused the medical community to various obstetric complications. Recently, there have been suggestions that the levels of mid-gestation serum markers, particularly human chorionic gonadotrophin (HCG), might be affected by assisted conception, leading to higher false-positive results. Furthermore, women who conceived after assisted reproduction methods are on average older, and in many cases their current pregnancy was achieved after long-standing infertility and might even be their last one. This is why they are extremely wary of any invasive fetal karyotyping. Therefore, every effort should be made to provide them with the most accurate screening of Down's syndrome (DS) risk. In this respect, nuchal translucency (NT) measurement, which has been reported to be another effective screening method, might be a more reliable marker in these pregnancies. This review explores the problematic issue of antenatal DS screening in assisted conception pregnancies. For the singletons and twins, a sequential NT and second-trimester serum marker screening can be offered, thus producing a single risk estimation which seems to be more accurate. For the high order of multiplicity, the NT offers additional important data, which can be taken in consideration both as a screening tool for DS and if fetal reduction is planned.     

Wood-gnawing in rats following cortical, olfactory bulb or limbic lesions

Wood-gnawing was examined in rats following neocortical, olfactory bulb or limbic lesions. Anterior neocortical lesions produced a persistent (50 day) reduction of wood-gnawing which was not due to inability to gnaw or reduced body weight. All other lesions produced a transient (8–12 day) depression of gnawing.     

Peripheral blood cell counts in infants with Down's syndrome

The current literature indicates that several abnormalities have been observed in the three hematopoietic cell lines of infants with Down's syndrome. This prospective, longitudinal study was designed to clarify the physiological variation in peripheral blood cell values of children with Down's syndrome by following 25 such infants during their first year of life. Apart from polycythemia in the first week of life, the hemoglobin concentration was, in general, the same as in normal term infants. At 9–12 months of age values for mean corpuscular hemoglobin and mean corpuscular volume tended to be elevated. Serum erythropoietin concentrations were low to normal. White blood cell counts were slightly lower in children with Down's syndrome than in normal children. The study infants had profound thrombocytosis from the age of 6 weeks to the end of follow-up at 1 year. This study, the first longitudinal follow-up of such subjects, indicates that infants with Down's syndrome often have evidence of polycythemia soon after birth and red blood cell macrocytosis and thrombocytosis later in infancy. In conclusion, we carried out peripheral blood cell counts in 25 infants with Down's syndrome, but with no actual hematological disturbance, during their first year of life, and compared them with values for normal term infants.     

中国21三体综合征流行病学研究

２１三体综合征的现况研究旨在通过流行病学研究方法，了解中国２１三体综合征的现患率及其分布特征。采用分层、不等比例、多阶段、随机整群的抽样方法，现场调查采用智力诊断和先天畸形的双重筛查及Ｇ显带核型分析方法。发现我国２１三体综合征的总现患率为０．４７‰，城市为０．２６‰，农村为０．５６‰。农村明显高于城市，男性高于女性，全部表现智力低下，多为中、重度     

唐氏综合征高危孕妇血浆游离胎儿DNA的检测

目的探讨实时荧光定量PCR(RQ-PCR)检测孕妇血浆游离胎儿DNA;在筛查唐氏综合征高危孕妇中的应用。方法采用RQ-PCR检测22例唐氏综合征高危孕妇及20例低危孕妇血浆中GA;PDH及SRY水平,2-△△Ct法分析两组间的差异。结果 22例孕男胎均检出SRY基因,20例孕女胎中出现2例假阳性,高危组游离胎儿DNA;水平明显高于低危组(P=0.006,<0.05),比值为2.79。结论孕妇血浆游离胎儿DNA;的定量检测在唐氏综合征筛查中有重要价值。     

孕中期唐氏筛查法在高龄孕妇中的意义分析

目的 探究唐氏筛查法在高龄孕妇妊娠中期的检出率及准确性。方法 对2017年1月~2017年10月宜春市妇幼保健院215例进行产前检查的孕妇,运用时间分辨免疫荧光法对血清中的甲胎蛋白、人类绒毛膜性腺激素以及游离雌三醇浓度进行测定。经唐氏筛查法检查后提示唐氏综合征高风险者,进行羊水染色体核型检查,分析比较两组孕妇的唐氏筛查高风险率以及染色体异常率。结果 在200例符合纳入标准的孕妇中,经唐氏筛查共检出高风险孕妇15例,适龄组高风险检出率7例（4.60%）低于高龄组8例（16.67%）,差异有统计学意义（P＜0.05）。高风险孕妇经羊水染色体核型检查后发现唐氏综合征胎儿1例,该例患儿母亲为高龄孕妇,已在18孕周时进行引产。产后随访其他新生儿均未出现上述疾病。高风险胎儿其染色体异常率高于低风险胎儿,差异有统计学意义（P＜0.05）。结论 随着孕妇年龄的增加,唐氏筛查的高风险检出率明显增高,同时经唐氏筛查法提示高风险胎儿其染色体异常率明显高于低风险胎儿,因此妊娠中期应用唐氏筛查法评估异常胎儿情况对高龄孕妇有重要意义。     

Absence of a radiation-induced adaptive response of lymphocytes in Down's syndrome

N. I. Pirogov Second Moscow Medical Institute. Institute of Chemical Physics, Academy of Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR N. P. Bochkov.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 112, No. 9, pp. 290–292, September, 1991.