Application of trans-abdominal chorionic villus sampling in prenatal diagnosis of chromosomal diseases in first trimester of gestation

Objective:To evaluate the feasibility and safety of prenatal diagnosis by traneabdominal chorionic villus sam-pling(TA-CVS)via the guidance of B-mode ultrasound in the first trimester of gestation.To explore the technique of long time culture and chromosome preparation of villi in early pregnancy.To evaluate the feasibility of the above techniques in the application of the prenatal cytogenetic diagnosis.Methods:One hundred and thirty-five singleton pregnancies at risk were referred from January 2001 to Decem-ber 2007.Results:The average maternal age was 35.2 years.TA-CVS was performed in the 10～13th weeks of gestation and the average gestational age was 10.89 weeks.All attempts at sampling were successful.The rate of operation-associated fetal loss was 0.74%.The failure rate of prenatal diagnosis because of inadequate amount of specimen was 0.The average culture time was 5-7 days.The success rate of the cell culture was 98.5%.No maternal con-temination and bacterial contamination happened.Fifteen cases of abnormal karyotype and one case of confined pla-cantel mosaiciem were diagnosed.Conclusion:TA-CVS appears to be safe and feasible and might to be offered in the prenatal diagnosis in the first trimester of gestation.The technique of long time culture and chromosome preparation of villi is stable and reliable.It is feasible to apply these techniques in the clinical practice of prenatal cytogenetic diagnose in the early pregnancy.     

A case of congenital supratentorial tumor: Atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor?

Two embryonal CNS tumors, atypical teratoid/rabdoid tumor (AT/RT) and primitive neuroectodermal tumor (PNET), may be confused with each other and misdiagnosed. Here we report an infant with a congenital supratentorial tumor, which was detected by fetal MRI at 37 weeks gestation. On routine histological examination, the tumor was composed mainly of small undifferentiated cells, among which many rhabdoid cells and occasional sickle‐shaped embracing cells were observed. No mesenchymal or epithelial areas were evident. Our impression was that the tumor was an atypical example of AT/RT. Immunohistochemically, almost all the tumor cells were strongly positive for vimentin. However, epithelial membrane antigen was notably negative, and most of the tumor cell nuclei were clearly positive for INI1. In addition, many tumor cells were positive for neurofilament protein. There were also occasional small areas containing many tumor cells positive for glial fibrillary acidic protein. Finally, a diagnosis of PNET, with a rhabdoid phenotype and expression of neuronal and glial markers, was made. In the present case, application of INI1 immunostaining was very helpful for distinguishing PNET from AT/RT.     

Impaired motor imagery in patients with essential tremor: a case control study.

Motor imagery (MI), which refers to the process of mental representation of movements, has not been studied in patients with essential tremor (ET). We investigated the presence of impaired MI in ET patients compared with healthy controls. A group of drug-naive and nondemented ET patients and age-matched controls were studied using transcranial magnetic stimulation, while they were specifically instructed to try and imagine themselves performing two motor tasks. The various clinical and electrophysiological variables were evaluated and compared. Repeated measures ANOVA demonstrated a significant difference between ET patients and controls with respect to mean motor-evoked potential (MEP) amplitudes (F(1,38) = 31.92, P < 0.005) during MI. The process of MI effectively facilitated MEP amplitude in controls but not in ET patients, regardless of side of stimulation or motor tasks. We provide evidence to demonstrate impairment of MI in a group of ET patients compared with healthy controls. The basis for this novel finding is unclear, and further studies are warranted to determine whether it is related to cerebellar or motor cortical dysfunction.     

椎管内占位病变的CT评价

本文回顾性分析了２８例椎管内占位病变（包括椎管内肿瘤２４例、蛛网膜囊肿２例、硬膜外脓肿和椎同盘突出各１例）的ＣＴ表现。着重讨论了造影剂增强ＣＴ的特征。大多数增强ＣＴ可显示肿块的轮廓，有助于肿块定位。室管膜瘤和星形细胞瘤的增强ＣＴ表现类似，但雪旺氏瘤、海绵状血管瘤和脓肿具有增强ＣＴ特征；同时还对脂肪瘤、脊膜瘤和蛛网膜囊肿的增强ＣＴ特征进行了探讨。增强ＣＴ定位困难时，ＣＴＭ可有很大的帮助。     

Leukaemia Inhibitory Factor or Related Factors Promote the Differentiation of Neuronal and Astrocytic Precursors within the Developing Murine Spinal Cord

Previously we have shown that leukaemia inhibitory factor (LIF) potentiates the development of murine spinal cord neurons in vitro , suggesting that it, or related factors, may play an important regulatory role in neuronal development. We have further investigated this role and show here that the generation of neurons in cultures of embryonic day 10 spinal cord cells is inhibited by antibodies to the β subunit of the LIF receptor. Since there are more undifferentiated precursors in antibody-treated cultures than in control and LIF-treated cultures, it is concluded that the primary action of LIF, or related molecules, is to promote neuronal differentiation, not precursor survival. In addition, the failure of LIF to support neuronal survival in the period immediately following differentiation suggests that the increased numbers of neurons generated with LIF are not attributable to its neurotrophic action. By selecting neuronal precursors on the basis of their inability to express class I major histocompatibility complex molecules, it was shown that LIF acted directly upon these cells and not via an intermediary cell. LIF also appears to be involved in regulating the differentiation of astrocytes, since it increases the number of glial fibrillary protein (GFAP)-positive cells present in the cultures and since the spontaneous production of GFAP-positive cells is blocked by antibodies to the LIF β receptor. These findings suggest that LIF or related factors promote the differentiation of neural precursors in the spinal cord, but that they are not involved in preferentially promoting precursors down a specific differentiation pathway.     

Impaired Glucose Tolerance in Pregnancy - Is It of Consequence?

Summary: This study was done to determine if impaired glucose tolerance in pregnancy was associated with increased maternal and neonatal morbidity and if so, whether the increased morbidity was due to the confounding factors of increased maternal age and maternal obesity. It was a retrospective analysis to compare 944 women with impaired glucose tolerance (IGT) in pregnancy with 10,065 women without abnormal glucose tolerance. The incidence of impaired glucose tolerance in pregnancy was 8.6% in this study. Even when maternal age and obesity were excluded, the IGT group had significantly higher risks of labour induction (relative risk, RR, 1.15); Caesarean section (RR: overall 1.43, elective 1.72, emergency 1.31); Caesarean section for dystocia/no progress (RR 1.60); macrosomia (RR 1.69,1.76,1.61 for birth-weight =97th, 95th, 90th percentiles respectively) and shoulder dystocia (RR 2.84) when compared to the nondiabetics (NDM). The risks of hypertensive disease (RR 1.22) and Caesarean section for fetal distress/thick meconium-stained liquor (RR 1.53) were also higher in the IGT group but these increases were not statistically significant when maternal age and obesity were excluded. There was no significant difference in the rates of low Apgar scores at 1 and 5 minutes between the 2 groups.     

160例女性不孕症的四种病原体检测及意义

本文报告了对１６０例女性不孕症患者宫颈分泌物中解脲脲原体（Ｕｕ）、人型支原体（Ｍｈ）、沙眼衣原体（Ｃｔ）和淋病奈氏球菌（Ｎｇ）的测定，结果总体检出率７０％（１２０／１６０），明显高于对照组（同期早孕妇女），Ｐ＜０．０１。其中输卵管阻塞组阳性率８４．７８％（３９／４６），明显高于输卵管通畅组６３．４６％（３３／５２）及欠通畅组６４．５２％（４０／６２），Ｐ＜０．０５。且针对性治疗收到一定效果，提示妇女下生殖道Ｕｕ、Ｃｔ、Ｎｇ感染是输卵管阻塞性不孕的主要原因之一。对该类患者行三项检测，对不孕症的病因诊断及治疗有好处。     

A phase II study of sulofenur,a novel sulfonylurea,in recurrent epithelial ovarian cancer

Summary A total of 16 patients with recurrent epithelial ovarian cancer were treated with sulofenur (LY 186641), a novel oral sulfonylurea. All subjects had received previous chemotherapy. Anaemia occurred in all 16 patients, 14 of whom required a blood transfusion, and 2/16 patients received methylene blue for breathlessness due to methaemaglobinaemia. Treatment was discontinued in 2/16 cases due to rising liver enzyme values, which reverted to normal on cessation of the drug. There was no nausea or alopecia. Only two minor responses were seen. Plasma drug levels were insufficient to result in antitumour activity as extrapolated from animal data. Further studies that attempt to increase the bioavailability and improve the therapeutic index are warranted.     

脑卒中患者日常生活能力的评定

采用Ｂａｒｔｈｅｌ指数对１２０例脑卒中住院患者在发病后５￣６周进行日常生活活动（ＡＤＬ）能力的证实。因脑卒中遗留的功能不全，ＡＤＬ的受损率达６６．７％，肢体的Ｂｒｕｎｎｓｔｒｏｍ功能分级与ＡＤＬ积分高度相关，相关性下肢高于上肢；多元逐步回归分析显示，躯体（偏瘫）和心理（认知障碍和抑郁因素）影响ＡＤＬ的能力。认为ＡＤＬ能力的提高，不仅依赖于肢体功能障碍的改善，提高认知功能，改善情感状况，对于脑卒中患