21-三体嵌合型母亲二次妊娠21-三体患儿

目的报告1例嵌合型母亲连续2次孕育单纯型21-三体患儿。方法对21-三体患儿、21-三体胎儿和其父母的血标本、父亲精子进行了DNA多态性检测,选择2个SRTR多态性位点,即D21S1412和D21S11,进行荧光定量PCR检测以确定额外21号染色体的起源。对父亲和母亲的外周血染色体和母亲皮肤染色体也进行了分析。结果对2个患儿与双亲的STR结果进行比较,显示2个患儿的额外21号染色体都来自母亲。双亲的STR检测中仅发现有2个微卫星标志物,外周血淋巴细胞染色体也均为正常。但母亲皮肤成纤维细胞检测到21-三体的细胞存在,占4%。结论母亲是21三体细胞/正常细胞的嵌合体,推测母亲生殖细胞中存在21三体细胞与正常细胞的嵌合,这可能是导致连续2次孕育21-三体患儿的原因。     

内侧髌股韧带重建治疗复发性髌骨脱位疗效观察

目的探讨内侧髌股韧带重建治疗复发性髌骨脱位的临床效果。方法回顾性分析湖北省荆州市中心医院2017年1月至2019年6月通过关节镜辅助下内侧髌股韧带双束重建治疗的29例复发性髌骨脱位患者的临床资料。其中,男10例,女19例,年龄14.0~29.5岁,平均19.4岁。测量TT-TG距离、髌骨倾斜角,计算Caton指数。术前、术后通过Kujala、Lysholm评分评价膝关节功能。结果所有患者均获得随访,随访时间12~36个月,术前TT-TG距离均小于20 mm、髌骨倾斜角小于20°,Caton指数0.9~1.1。所有患者术后均未见脱位复发,术前术后Kujala评分分别为(51.32±5.52)分、(82.45±3.38)分;术前、术后Lysholm评分分别为(53.25±5.85)分、(89.65±4.75)分;术前、术后髌骨倾斜角为13.15°±1.67°,6.94°±1.47°。差异均具有统计学意义(P<0.05)。结论关节镜辅助下内侧髌股韧带双束重建治疗无严重骨性异常的复发性髌骨脱位,操作简单,疗效确切,并发症少,近期随访无复发,可以显著提高膝关节功能。     

Real-time ocular artifact suppression using recurrent neural network for electro-encephalogram based brain-computer interface

The paper presents an adaptive noise canceller (ANC) filter using an artificial neural network for real-time removal of electro-oculogram (EOG) interference from electro-encephalogram (EEG) signals. Conventional ANC filters are based on linear models of interference. Such linear models provide poorer prediction for biomedical signals. In this work, a recurrent neural network was employed for modelling the interference signals. The eye movement and eye blink artifacts were recorded by the placing of an electrode on the forehead above the left eye and an electrode on the left temple. The reference signal was then generated by the data collected from the forehead electrode being added to data recorded from the temple electrode. The reference signal was also contaminated by the EEG. To reduce the EEG interference, the reference signal was first low-pass filtered by a moving averaged filter and then applied to the ANC. Matlab Simulink was used for real-time data acquisition, filtering and ocular artifact suppression. Simulation results show the validity and effectiveness of the technique with different signal-to-noise ratios (SNRs) of the primary signal. On average, a significant improvement in SNR up to 27 dB was achieved with the recurrent neural network. The results from real data demonstrate that the proposed scheme removes ocular artifacts from contaminated EEG signals and is suitable for real-time and short-time EEG recordings.     

不孕及反复流产患者血清抗心磷脂抗体的检测

目的检测不孕及反复流产患者血清中的抗心磷脂抗体(ACA),探讨ACA的临床意义.方法应用酶联免疫吸附(ELISA)法检测105例原发或继发不孕患者(不孕组)、171例反复流产或有胚胎停育史患者(流产组)及40例正常对照组血清中的IgG、IgM及IgA-ACA 3种抗体.结果不孕组ACA总阳性率为44.76%,流产组为35.09%,均显著高于对照组(P＜0,01).不孕组及流产组的单纯IgG阳性率亦明显高于对照组(P＜0.05);而两组的单纯IgM阳性率与对照组相比,差异均无显著性意义(P＞0.05).结论ACA是导致不孕及反复流产的免疫学因素之一,IgG型的ACA比IgM型的更具临床意义     

Excitability of reciprocal and recurrent inhibitory pathways after voluntary muscle relaxation in man

Summary We studied the potential contribution of postsynaptic mechanisms to the depression of reflex excitability which occurs immediately after a voluntary release from tonic muscle contraction. The excitability of the Soleus (Sol) motor pool was tested at rest and after voluntary muscle relaxation. In both cases the Sol H-reflex was conditioned by 1. a single shock to the peroneal nerve, in order to activate the Ia interneurones (INs) mediating the reciprocal inhibition via a peripheral input, or by 2. a short-lasting voluntary contraction of the Tibialis Anterior (TA) muscle, to activate the Ia INs via a central command. Changes in excitability of Renshaw cells were also tested at rest and after release, to assess the role of recurrent inhibition in the release-induced inhibition of the Sol H-reflex. It was demonstrated that: 1. the excitability of the INs mediating the reciprocal inhibition was only slightly enhanced in comparison with resting conditions; 2. the H-reflex of the antagonist muscle (TA) evoked after Sol release was not consistently facilitated with respect to rest; 3. the command to contract the TA muscle reduced the H-reflex of the Sol muscle during rest but not after Sol release; 4. recurrent inhibition did not increase its effect in the post-release period. Such features suggest that recurrent and reciprocal post-synaptic inhibitions do not play a major role in reducing the reflex excitability of a relaxing muscle; rather, the command to release prevents the reciprocal inhibitory effect which accompanies the contraction of the antagonist muscle. The findings support the concept that release-induced reflex depression is mediated mainly by presynaptic inhibition of autogenetic spindle afferences (Schieppati and Crenna 1984).Supported by Italian M.P.I.     

Effect of intravenous immunoglobulin treatment on the Th1/Th2 balance in women with recurrent spontaneous abortions

PROBLEM: The way by which intravenous immunoglobulin (IvIg) acts to prevent immunlogically mediated recurrent spontaneous abortions (RSA) has not been clarified. In the present study, a possible effect of IvIg on the T helper cell (Th1/Th2) balance was investigated in abortions of either alloimmune or autoimmune abnormalities. METHOD OF STUDY: The study included 21 women treated with IvIg before conception because of a history of RSA characterized by alloimmune abnormalities (n = 15) or associated with anti-phospholipid antibodies (APA) (n = 6). Peripheral blood samples, collected before and 5 days after the first IvIg infusion, were stimulated, and Th1 and Th2 cells were detected by flow-cytometric analysis using a combination of monoclonal antibodies against T-cell surface markers and intracellular interferon (IFN)-gamma and interleukin (IL)-4. The percentage of IFN-gamma-producing (Th1) and IL-4-producing (Th2) cells and the Th1/Th2 ratio were compared between pre- and post-infusion samples. RESULTS: A decrease of Th1 percentage in 66.6% of the cases and a concurrent Th2 percentage increase (47.61%) resulted in a decrease in the Th1/Th2 ratio in most of the cases (76.1%) (p < 0.01). Similar results were found in Group A (Th1/Th2 decreased in 60% of the cases, p < 0.05), while in Group B the effect of IvIg was not clear (Th1/Th2 increased in three and decreased in another three cases). CONCLUSION: Our finding suggests that IvIg administration in women with alloimmune RSA enhances Th2 polarization. This is not always the case with APA-associated abortions.     

ADA活性紫外吸收测定法的改良及复感儿淋巴细胞该酶活性的检测

检测了42例健康儿童和17例反复上呼吸道感染患儿（复感儿）的血淋巴细胞腺苷脱氨酶（ADA）活性，结果表明：复感儿的血淋巴细胞中ADA活性较健康儿童低下，且大多同样伴有不同程度的免疫功能低下；从复感儿组中筛选了两侧ADA活性和免疫功能明显低下的患儿，拟采用这两例患儿的血淋巴细胞进行ADA－SCID基因治疗的实验研究。     

Blood supply to the retina and the lens in the gerbil (<Emphasis Type="Italic">Meriones unguiculatus</Emphasis>)

The blood supply to the retina and the lens in 32 gerbils (Meriones unguiculatus) of both sexes from infancy to maturity was studied under light and stereoscopic microscopes, and a scanning electron microscope. Mercox (CL-2R; Dai Nippon Ink, Tokyo, Japan) was injected into the left ventricle of 30 animals in order to visualize the blood supply to the retina and the lens from the ophthalmic artery. The central retinal artery arises from the ophthalmic artery, passes through the papilla of the optic nerve together with the central retinal vein and penetrates the vitreous space (cavity of the eye) between the lens and the internal limiting membrane of the retina, where it divides into the central branches covering the lens and the parietal branches to supply the retina. The former passes through the hyaloid space after branching several arterioles and then covers the lens like a network from its medial and marginal sides. Different from small experimental animals, the parietal branches, just after separating from the central one, divides into the nasal, dorsal and temporal branches in the vitreous space, each of which then subdivides to distribute across the retina on the inner limiting membrane, then delineates the membrana vasculosa retinae. This basal pattern of vasculization 1 day after birth continues to death. Both the central and parietal branches of the central retinal artery correspond to the branches of the hyaloid artery in embryo and the latter is preserved in adult gerbils.     

Melanotic Neuroectodermal Tumor of Infancy Occurring in the Left Thigh of a 6-Month-Old Female Infant

We report an exceptional case of melanotic neuro-ectodermal tumor of infancy (MNTI) occurring in the soft tissue of the left thigh of a 6-month-old female infant. The tumor consisted mainly of small round cells (neuroblasts) arranged in cords and nests that were separated by broad fibrovascular areas. In addition, there were a few medium-sized tumor cells containing melanin pigment (melano-cytic cells) that in electron microscopy contained melanosomes as well as tonofilaments. Both tumor cell types immunostained for neuron-specific enolase (NSE) and vimentin, and the melanocytic cells reacted additionally with the antikeratin antibody KL1. Within the tumor stroma, neurofilament- and S-100-protein-positive neural cells and vimentin- and desmin-positive myofibroblasts were seen. Although densecore granules were demonstrated ultrastructurally in some neuroblasts, no immunostaining for chromogranin A, Leu-7, serotonin, or regulatory peptides was found. MNTI located in an extremity can be confused with malignant small round and blue cell tumors of childhood. The distinction between MNTI and these tumors is of clinical significance because MNTI, in most cases, is a benign tumor that, in contrast to the latter, can be cured by complete excision. The presence of a biphasic cell population with neuroblasts and melanocytic cells must be considered the main diagnostic feature of MNTI.