Association of D/D translocations with fetal wastage and aneuploidy. A report of four families.

Four families are described with a t(13q14q) segregating. Two of them were identified through index cases with Down's syndrome; their karotypes revealed the unusual 46,XY, -13, -14, +t(13q14q), +21. The other two families were identified through a chromosomal study of parents with repeated spontaneous abortions. Analysis of data on 3 of these 4 families and on 7 other from the published reports showed no evidence of increased fetal wastage among 13/14 carriers. However, the risk of producing offspring with various types of aneuploidy may be greater among carriers than among persons with a normal chromosome pattern. Qualitative and quantitative differences in D/D translocations may account for the observed variation in clinical findings. These differences add to the problem of determining genetic risks from an analysis of grouped data.     

血糖感应型胰岛素给药智能载体的研究进展

胰岛素控制释放高分子载体系统一直是国内外科技工作者的研究热点 ,迄今已经研究报道了多种具有不同工作原理的血糖感应型胰岛素给药智能载体。本文基于国内外大量研究文献 ,综述了血糖感应型胰岛素控制释放智能化高分子载体的研究进展。     

Cell cycle arrest of human gingival fibroblasts and periodontal ligament cells by Actinobacillus actinomycetemcomitans: involvement of the cytolethal distending toxin

The cytolethal distending toxin (Cdt) is produced by several Gram-negative bacterial species and causes growth arrest and morphological alterations in mammalian cells. Actinobacillus actinomycetemcomitans, which is involved in the pathogenesis of localized aggressive periodontitis, also produces a Cdt that affects periodontal connective tissue cells. The aim of this study was to investigate in which phase of the cell cycle these cells are arrested and enlarged when challenged with A. actinomycetemcomitans, and to evaluate the involvement of its Cdt. Human gingival fibroblasts and periodontal ligament cells were challenged with A. actinomycetemcomitans extract, or with purified Cdt, and cell cycle analysis was performed by propidium iodide staining and flow cytometry. Cells exposed to an A. actinomycetemcomitans wild-type strain, or to purified Cdt, were arrested in both G1 and G2/M phases, and appeared enlarged compared to the corresponding controls. The cellular enlargement occurred in both G1 and G2/M arrested cells. In contrast, cells exposed to an A. actinomycetemcomitans cdt-knockout mutant strain showed cell cycle phase distribution and size similar to the controls. In conclusion, A. actinomycetemcomitans causes a combined G1 and G2/M growth arrest and enlargement in periodontal connective tissue cells, which is attributed to its Cdt.     

VATER and hydrocephalus: distinct syndrome?

VACTERL association with hydrocephalus is rarely reported, and is thought to be an autosomal recessive uniformly lethal disorder distinct from the VATER association. We have observed 3 patients in a 12-month period with hydrocephalus due to aqueductal stenosis, in addition to vertebral anomalies (3/3), anal anomalies (3/3), cardiac anomalies (3/3), tracheoesophageal fistula (1/3), renal anomalies (3/3), limb anomalies (3/3), single umbilical artery (2/3), hypospadias (1/3), and cryptorchidism (1/2). Chromosomes were normal in all cases. Although one patient died in the neonatal period due to respiratory failure, 2 have survived (30 months and 19 months) with good neurological outcome following early neurosurgical treatment. Although delayed in motor development, both are interactive, social, and continue to make developmental progress. Appropriate surgical treatment, including early ventriculoperitoneal shunting, allowed for the survival of 2 patients with an unexpectedly good outcome. Our experience suggests that the extremely poor prognosis previously ascribed is not universal. We caution against labeling this syndrome as a uniformly lethal, developmentally devastating disorder.     

中国胰岛素依赖性糖尿病病人（HLA－DR9）的HLA－DQB1基因顺序分析

用血清学方法研究显示中国人胰岛素依赖性糖尿病（ＩＤＤＭ）与ＨＬＡ－ＤＲ９相关。鉴于白种人中的研究显示ＩＤＤＭ与ＨＬＡ－ＤＱβ链第５７位氨基酸相关，Ａｓｐ－５７对ＩＤＤＭ呈抗性，ｎｏｎ－Ａｓｐ与ＩＤＤＭ易感性相关。我们用ＰＣＲ技术扩增了中国人中血清学ＤＲ９纯合的ＩＤＤＭ患者和正常对照的ＨＬＡ－ＤＱＢ１基因第二外显子并测定了核苷酸顺序，结果未发现ＩＤＤＭ特异ＨＬＡ－ＤＱＢ１等位基因，但发现ＩＤＤＭ病人ＨＬＡ－ＤＱＢ１５７位均为天冬氨酸。表明中国ＩＤＤＭ患者中的ＨＬＡ－ＤＱＢ１５７位天冬氨酸不一定具有保护个体抵抗ＩＤＤＭ的足够能力。ＩＤＤＭ易感性可能涉及多个基因位点的变化，另外还可能与其它遗传因素及环境因素有关。     

Three-dimensional culture of rat exocrine pancreatic cells using collagen gels

Rat pancreatic cells were dissociated using a combined enzyme and EDTA method, grown on a plastic surface and then overlayed with collagen gel. Our studies have shown that exocrine pancreatic cells grown in this way have the ability to rearrange themselves into a three-dimensional organoid structure in which well defined epithelial lumina have been identified by ultrastructural and light microscopic examination. This in vitro system has advantages in examining the cytodifferentiation of pancreatic cells and may be exploited in studying pancreatic carcinogenesis.     

Implementation and evaluation of a multifunctional telemedicine system in NTUH

In this article, we proposed a multifunctional telemedicine system supporting both telediagnosis and teleconsultation services. We attempted not only to insure that the implementation of this system satisfied most requirements, but also to evaluate the impact of the system. With regard to system architecture, we designed a unified multimedia database to store all types of data and used two kinds of network (ATM and ISDN) for different possible applications. As for data transmission, the REFRESH and PREFETCH mechanisms were implemented to enhance data transfer efficiency. A total of 1107 consultations employing the telemedicine system were performed during the past 3 years. This technology was used most frequently for radiology consultation (32.7%, n = 362) and ultrasonic examination (19.5%, n = 216). An evaluation of the impact on diagnosis (507 valid cases) indicated that the diagnosis in 80 cases (15.78%) were altered on the basis of second opinions from a medical center; and the number of patients transferred to the medical center was reduced from 24 (4.7%) to eight cases. Most of the rural-site physicians (97%) thought that they did benefit from specialists' experience and knowledge via the telemedicine system. Based on 431 valid questionnaires, the number of the patients with confidence in the telemedicine system at their local healthcare center increased from 72.6% to 87.5%. Overall, more than 90% of patients and physicians believed that the system was valuable and provided satisfactory services.     

急性心肌缺血时冠状窦血浆纤维蛋白原的改变及意义

通常人们认为,急性心肌缺血可引起血浆纤维蛋白原(Fg)的增高;但是在缺血区局部Fg的变化并不清楚。本文在17条犬上,以自制微米缩窄器造成冠脉左旋支狭窄与梗塞,观察了冠状窦Fg和血小板数(PC)的改变。结果表明:当冠脉狭窄大于75%后,急性心肌缺血可引起Fg含量的减少,当冠脉大狭窄于90%后,PC也出现减少。病理组织学检查在狭窄部位有内皮细胞的损伤、血小板的粘附及冠状动脉血栓和微血栓的形成。这一结果提示:急性心肌缺血可引起血浆Fg的减少,Fg的减少与血小板的聚集及血栓的形成有关。     

Adaptation of cancellous bone to aging and immobilization in growing rats.

Two-and-half-month-old female rats were subjected to right hindlimb immobilization or served as controls for 0, 1, 2, 8, 14, and 20 weeks. The right hindlimb was immobilized by bandaging it against the abdomen, thus unloading it. Cancellous bone histomorphometry was performed on microradiographs and double-fluorescent labeled 20 microns sections of the distal femoral metaphyses. Primary spongiosa bone loss occurred rapidly by 2 weeks, and secondary spongiosa bone loss occurred rapidly by 8 weeks of immobilization, and then equilibrated at 60% less bone mass than age-related controls. The negative bone balance induced by immobilization was caused by transient increase in bone resorption, decrease in bone formation, and longitudinal bone growth. The dynamic data of secondary spongiosa cancellous bone showed that percent eroded perimeter was transiently elevated by 55 to 82% between 1 and 8 weeks, percent labeled perimeter was transiently depressed by 32% to 50% between 1 and 14 weeks, mineral apposition rate was depressed by 23% and 19% at 1 and 2 weeks, and bone formation rate-bone area referent was transiently depressed by 35% and 59% at 1 and 2 weeks. All the above parameters were at age-related control levels by 20 weeks of immobilization. However, bone formation rate-tissue area referent was depressed (-65%) throughout the study. Immobilization depressed completely longitudinal bone growth by 2 weeks and remained so. Only 0.65 mm of new metaphysis was generated in the immobilized versus 2.1 mm in controls during the study period. The immobilization induced an early cancellous bone loss which equilibrated at a new steady state with less bone and a normal (age-related control) bone turnover rate. When these findings were compared to an earlier study of 9-month-old virgin females subjected to right hindlimb immobilization up to 26 weeks, we found the adaptive responses of the cancellous bone were identical except that they occurred earlier and equilibrated sooner in younger rats.