超声影像学与分子生物学在复发性自然流产的联合应用

目的探讨纤溶酶原激活剂抑制物-1(plasminogen activator inhibitor-1,PAI-1)基因4G/5G多态性和早期妊娠子宫动脉舒张期切迹与复发性自然流产的关系,为早期诊断和治疗复发性自然流产提供依据。方法应用聚合酶链反应-限制性片段多态性(PCR-RFLP)分析,对61例反复自然流产患者(病例组)和52例正常妊娠对照组(对照组)做了PAI-1基因4G/5G多态性分析,并应用彩色多普勒超声检测子宫动脉舒张期切迹(uterine artery diastolic notches depth,ND)结果1.复发性自然流产组有ND切迹者占54.1%(33/61),正常妊娠对照组为34.62%(18/52),二者差异有显著性意义(χ2=4.30,P<0.05,OR值为2.23,95%CI 1.04-4.77。2.携带4G/4G基因型患者其子宫动脉血流循环阻力有增加趋势,(χ2=16.08,P<0.01,OR值为6.0,95%CI 2.38-15.12。结论1.子宫动脉血流循环阻力增加与复发性自然流产的发病有关联。2.PAI-1基因4G/4G型个体,同时有ND者自然流产的风险为对照组的4.25倍...     

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     

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

Angelman syndrome (AS) is caused by several genetic mechanisms that impair the expression of maternally‐inherited UBE3A through deletions, paternal uniparental disomy (UPD), UBE3A pathogenic variants, or imprinting defects. Current methods of differentiating the etiology require molecular testing, which is sometimes difficult to obtain. Recently, computer‐based facial analysis systems have been used to assist in identifying genetic conditions based on facial phenotypes. We sought to understand if the facial‐recognition system DeepGestalt could find differences in phenotype between molecular subtypes of AS. Images and molecular data on 261 individuals with AS ranging from 10 months through 32 years were analyzed by DeepGestalt in a cross‐validation model with receiver operating characteristic (ROC) curves generated. The area under the curve (AUC) of the ROC for each molecular subtype was compared and ranked from least to greatest differentiable phenotype. We determined that DeepGestalt demonstrated a high degree of discrimination between the deletion subtype and UPD or imprinting defects, and a lower degree of discrimination with the UBE3A pathogenic variants subtype. Our findings suggest that DeepGestalt can recognize subclinical differences in phenotype based on etiology and may provide decision support for testing.     

Three-dimensional modeling of the anatomy of the heart and great vessels

Summary The anatomic constraints imposed on a total artificial heart (TAH) require specific anatomic studies. A thoracic anatomic study was performed with a scanning device equipped with three-dimensional (3-D) reconstruction software on 15 male patients, between the ages of 41 to 63 years (52 ± 6 years). All were candidates for heart transplantation. The 3-D reconstructions of the cardiovascular structures obtained from surgical anatomy data specific to TAH implantation allowed a volumetric measurement of these structures. A modeling diagram of these structures permitted reproducible quantitative measurements of the 35 geometrical parameters which characterized shape, orientation, and position of these structures within the thorax. Most of the measured parameters were characterized by low variability (coefficient of variation from 10 to 25%).

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Modélisation tridimensionnelle de l'anatomie du cur et des gros vaisseaux

Résumé Les contraintes anatomiques imposées au cur artificiel total (CAT) nécessitent des études anatomiques spécifiques. Une étude anatomique thoracique a été réalisée avec un scanner doté d'un logiciel de reconstruction tridimensionnelle (3-D) chez 15 patients, tous de sexe masculin, agés de 41 à 63 ans (52 ± 6 ans), et candidats à une transplantation cardiaque. Les reconstructions 3-D des structures cardio-vasculaires réalisées selon les données de l'anatomie chirurgicale propre à l'implantation du CAT ont permis la mesure volumétrique de ces structures. Un schéma de modélisation de ces structures a permis des mesures quantitatives reproductibles de 35 paramètres géométriques caractéristiques de la forme, de l'orientation, de la position de ces structures dans le thorax. Les résultats de ces mesures ont pu être exprimés en termes statistiques. La plupart des paramètres mesurés étaient caractérisés par une faible variabilité (coefficients de variations de 10 à 25%).

     

Divergence of natural killer cell receptor and related molecule in the decidua from sporadic miscarriage with normal chromosome karyotype

The aim of this cohort study was to investigate immunophenotypic characteristics of natural killer (NK) cells by assessing specific molecules expressed in the decidua of sporadic miscarriages and induced abortions. The deciduae were obtained from 29 consecutively seen women whose pregnancies ended in first trimester miscarriages (MS), and the fetal chromosome karyotype of these MS was analysed. Additionally, 13 deciduae were obtained from induced abortion (IA) with informed consent. The expression of perforin, CD94, CD161, CD158a, CD158b, CD244 on CD3-CD56+NK cells, and perforin on CD3+CD8+ T cells was analysed by flow cytometry. The CD158a (mean+/-SD, 26.2+/-14.7%) and CD94 (50.2+/-25.7%) expressions in MS with normal chromosome karyotype (MSNK; n=11) were significantly decreased as compared with those (41.5+/-19.5%, 71.4+/-20.4%) in MS with abnormal karyotype (MSAK; n=18) and those (44.3+/-21.9%, 80.8+/-17.5%) in IA (n=13). Conversely, the perforin expression on CD3-CD8-CD56+NK cells (76.3+/-11.0%) and CD3+CD8+T cells (30.6+/-9.2%) in MSNK was significantly increased as compared with those (66.8+/-16.6%, 23.6+/-8.7%) in MSAK and those (62.9+/-11.6%, 19.7+/-8.1%) in IA. A positive correlation between CD94 and CD158a expressions on NK cells, negative correlations between CD94 on NK cells and perforin on NK cells/T cells, and between CD158a on NK cells and perforin on T cells were found in the decidua. A divergence of NK cell repertoire in the decidua might be related to aetiology of sporadic MSNK.     

An Animal Model for the Study of the Function of Pregnancy-Specific Beta1 Glycoprotein and Pregnancy Zone Protein: A Review*

ABSTRACT: Two pregnancy-associated murine proteins, PAMP-1 and PAMP-2, have been found to be immunologically cross-reacting analogues to the human proteins pregnancy zone protein (PZP) and pregnancy-specific beta₁-glycoprotien (SP-1), respectively. In this study, the physiochemical and biological properties of the proteins are compared and the effect on pregnancy of administration of monospecific antibodies against the proteins is reported.     

An effective regimen for early medical abortion: a report of 2000 consecutive cases

A combination of the anti-progesterone mifepristone and gemeprostprovides an effective non-surgical method for the inductionof abortion at gestations up to 63 days, achieving completeabortion rates of over 95%. We report our experience with analternate regimen, comprising a reduced dose of mifepristonein combination with vaginal misoprostol. A consecutive seriesof 2000 women requesting early medical abortion at gestationsup to 63 days was studied retrospectively. Each woman receivedmifepristone 200 mg orally, followed 36–48 h later bymisoprostol 800 µg vaginally. Of the 2000 women, 39 (2.0%)aborted completely following administration of mifepristonealone and a further 1912 experienced complete abortion followingadministration of misoprostol (a complete abortion rate of 97.5%).Surgical intervention was required in 49 women (2.5%): for incompleteabortion in 27 (1.4%), for missed abortion in seven (0.4%),for continuing pregnancy in 11 (0.6%) and to exclude ectopicpregnancy in four (0.2%). The surgical intervention rate wassignificantly higher among women at gestations 49 days thanamong those at 49 days (3.3 versus 1.5%, P = 0.0193). The regimenappears as effective, in terms of high complete abortion rateand low continuing pregnancy rate, as any published alternative.This regimen has the benefit of being less costly as the doseof mifepristone is 67% lower and misoprostol is substantiallyless expensive than gemeprost. Additionally, misoprostol doesnot require special transport or storage requirements. As such,the combination of mifepristone and gemeprost.     

Anti-idiotypic IgM antibodies to anti-HLA class I antibodies in habitual abortion.

In order to investigate the role of the idiotypic network in miscarriages, sera from 28 habitually aborting women undergoing paternal leukocyte immunization were studied for the presence of HLA antibodies and related anti-idiotypes. Sixty-eight percent of sera from preimmunized patients which did not contain anti-lymphocyte antibodies inhibited the activity of antibodies to the HLA class I antigens expressed by the spouse. This inhibitory activity could be assigned to IgM antibodies, which cross-inhibit antibodies of similar specificity. This suggests that they are anti-idiotypes for the binding site of HLA antibodies. Immune sera of successfully treated patients exhibited both cytotoxic IgG anti-HLA antibodies and inhibitory IgM anti-idiotypic antibodies. A possible role for an intact idiotypic network in maintaining pregnancy is suggested.     

Correlation dimension analysis of the artificial circulation

Artificial circulation has been analyzed by decomposing it into parts. However, the sum of the decomposed parts is not equal to the whole system, especially in nonlinear dynamic systems such as biological systems. To evaluate prosthetic circulation as an entity, not as decomposed parts, nonlinear mathematical analytic techniques, including fractal dimension analyzing theory, were used. Two pneumatically actuated ventricular assist devices were implanted as biventricular bypasses (BVB) in chronic animal experiments using four healthy adult goats. For comparison between natural and prosthetic circulation in the same experimental animals, the BVB-type complete prosthetic circulation model with ventricular fibrillation was adopted. All hemodynamic parameters with natural and prosthetic circulation were recorded under awake conditions and calculated by a personal computer system. By the use of nonlinear mathematical techniques, time-series data of the hemodynamics were embedded into the phase space, and correlation dimension analysis was performed to evaluate the reconstructed attractor. Our results suggest that the correlation dimension of the arterial blood pressure does not linearly increase according to the increase of the embedding dimension, even during artificial circulation, suggesting those are the fractal time series data. Dimensional analysis of the hemodynamics revealed that lower dimensional fractal dynamics were observed during prosthetic circulation. Fractal time series data are suggested to have robustness and error resistance. Thus, our results suggest that the circulatory regulatory system with the artificial heart may have these desirable characteristics. Accepted: July 14, 1995