Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4.

We report a female baby with multiple congenital anomalies including left upper amelia, congenital short bowel with malrotation and pseudo-obstruction, dextrocardia with situs solitus, patent ductus arteriosus, and a tiny atrophic spleen. Chromosome study showed de novo 46,XX/46,XX,-4, + r(4)(p16-->q22.3)/47,XX,4, + r(4) (p16-->q22.3), + del(4)(pter-->q22.3:). The clinical findings in the patient were probably caused by the interaction of partial trisomy 4pter-->q22.3 or 4p16-->q22.3 and partial monosomy of 4q22.3-->4qter. This karyotype and phenotype have not previously been reported.     

液相人血清TSH免疫放射分析的建立

本文利用兔抗人ＴＳＨ（ｈＴＳＨ）多克隆抗体、（１２５）~Ｉ－鼠抗ｈＴＳＨ单克隆抗体、固相驴抗兔二抗建立了液相高灵敏度人血清ＴＳＨ免疫放射分析。方法学考核显示，灵敏度为０．００８ｍＩＵ／Ｌ，批内和批间变异系数分别为１．６％～４．１％和２．７％～８．６％，回收率为９５．２％～１０１．４％，与ｈＦＳＨ和ｈＨＣＧ的交叉反应率分别为４．４１×１０~（－５）和５．０８×１０~（－７）．用本法测定了３４名正常人、２７例甲亢和９例甲低患者血清值，结果与临床相符。     

舌下神经管及其毗邻结构的显微解剖和临床意义

目的:研究舌下神经管及其毗邻结构的显微解剖,为舌下神经管疾病的影像学诊断和手术入路的选择提供形态学数据。方法:肉眼和手术显微镜下观测30例(60侧)成人头颅干骨标本的舌下神经管及其毗邻结构。结果:舌下神经管位于枕骨髁的前上方,为一对卵圆形或圆形孔道,内口至外口的长度(8.51±0.91)mm。舌下神经管内口呈双管者5侧(8%);内口后缘与枕骨髁后缘的距离(10.07±0.75)mm,外口后缘至枕骨髁后缘(14.22±1.18)mm。左、右侧枕骨髁的前后径分别为(23.10±1.57)mm、(22.38±2.28)mm。结论:熟悉舌下神经管及其毗邻结构的解剖有利于相关疾病的影像诊断和手术入路的选择。     

Population survey of CCR5 delta32, CCR5 m303, CCR2b 64I,and SDF1 3'A allele frequencies in indigenous Chinese healthy individuals,and in HIV-1-infected and HIV-1-uninfected individuals in HIV-1 risk groups

The aim of this study is to determine in indigenous Chinese ethnic groups the frequencies of the chemokine (SDF1 3'A) and chemokine receptors (CCR5 delta32, CCR5 m303, and CCR2b 64I) HIV-1/AIDS restriction alleles. The study includes two cohorts; the first comprised 3165 indigenous healthy subjects representing eight ethnic groups: Han (n = 1406), Uygur (n = 316), Mongolia (n = 134), Hui (n = 386), Tibetan (n = 330), Zhuang (n = 378), Dai (n = 101), and Jingbo (n =114). The second cohort consisted of 330 HIV-1-infected (86 subjects infected by sexual transmission and 198 subjects infected by HIV-1-contaminated blood or by sharing injection equipment; the remaining 46 subjects said nothing about HIV-1 transmission) and 474 HIV-1-uninfected Han Chinese belonging to one of two HIV-1 high-risk groups: intravenous drug users (n = 215) and individuals with sexually transmitted diseases (n = 259). Genotypes for the four genes were obtained using PCR (CCR5 delta32) or PCR-restriction fragment length polymorphism. Randomly selected amplified PCR products were further confirmed by direct DNA sequencing. The variant allele frequencies were determined to be 0% to 3.48% for CCR5 delta32, 0% for CCR5 m303, 16.23% to 28.79% for CCR2b 64I, and 17.70% to 27.76% for SDF1 3'A in Chinese healthy individuals from eight ethnic groups. These findings show that allele frequencies differ among the eight Chinese ethnic groups for CCR5 delta32, CCR2b 64I, and SDF1 3'A and that the CCR5 m303 and CCR5 delta32 mutant alleles were absent or infrequent in Chinese, which may be helpful for studies of specific anti-HIV-1 vaccine trials and coreceptor inhibitor drug targets in Chinese populations. Furthermore, we observed no significant differences in allele or genotypic frequencies between HIV-1-infected and HIV-1-uninfected groups from the Han ethnic group. Our finding is the first reporting that there is likely no effect of the examined polymorphisms in our study on HIV-1 transmission in the Chinese Han population, However, the genetic effects of these and other AIDS-modifying polymorphisms on the pathogenesis and clinical outcome of HIV-1/AIDS diseases is under investigation in Chinese populations.     

Organ distribution of severe acute respiratory syndrome (SARS) associated coronavirus (SARS-CoV) in SARS patients: implications for pathogenesis and virus transmission pathways

We previously identified the major pathological changes in the respiratory and immune systems of patients who died of severe acute respiratory syndrome (SARS) but gained little information on the organ distribution of SARS-associated coronavirus (SARS-CoV). In the present study, we used a murine monoclonal antibody specific for SARS-CoV nucleoprotein, and probes specific for a SARS-CoV RNA polymerase gene fragment, for immunohistochemistry and in situ hybridization, respectively, to detect SARS-CoV systematically in tissues from patients who died of SARS. SARS-CoV was found in lung, trachea/bronchus, stomach, small intestine, distal convoluted renal tubule, sweat gland, parathyroid, pituitary, pancreas, adrenal gland, liver and cerebrum, but was not detected in oesophagus, spleen, lymph node, bone marrow, heart, aorta, cerebellum, thyroid, testis, ovary, uterus or muscle. These results suggest that, in addition to the respiratory system, the gastrointestinal tract and other organs with detectable SARS-CoV may also be targets of SARS-CoV infection. The pathological changes in these organs may be caused directly by the cytopathic effect mediated by local replication of the SARS-CoV; or indirectly as a result of systemic responses to respiratory failure or the harmful immune response induced by viral infection. In addition to viral spread through a respiratory route, SARS-CoV in the intestinal tract, kidney and sweat glands may be excreted via faeces, urine and sweat, thereby leading to virus transmission. This study provides important information for understanding the pathogenesis of SARS-CoV infection and sheds light on possible virus transmission pathways. This data will be useful for designing new strategies for prevention and treatment of SARS.     

A role for hyaluronan in macrophage accumulation and collagen deposition after bleomycin-induced lung injury

Elevated concentrations of hyaluronan (HA) are associated with the accumulation of macrophages in the lung after injury. We have investigated the role of HA in the inflammatory and fibrotic responses to lung injury using the intratracheal instillation of bleomycin in rats as a model. After bleomycin-induced lung injury, both HA content in bronchoalveolar lavage (BAL) and staining for HA in macrophages accumulating in injured areas of the lung were maximal at 4 d. Increased HA in BAL correlated with increased locomotion of isolated alveolar macrophages. HA-binding peptide was able to specifically block macrophage motility in vitro. Importantly, systemic administration of HA-binding peptide to rats before injury not only decreased alveolar macrophage motility and accumulation in the lung, but also reduced lung collagen alpha (I) messenger RNA and hydroxyproline contents. We propose a model in which HA plays a critical role in the inflammatory response and fibrotic consequences of acute lung injury.     

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.     

人白细胞介素13cDNA的克隆及序列测定

用反转录－多聚酶链反应（ＲＴ－ＰＣＲ）技术从中国人外周血淋巴细胞中克隆了ＩＬ－１３ｃＤＮＡ，序列测定表明克隆的ＩＬ－１３ｃＤＮＡ含成熟的ＩＬ－１３蛋白全部编码，且存在编码第９８位Ｇｌｎ的密码子ＣＡＧ，这为进一步表达ＩＬ－１３并深入探究功能奠定了基础。     

X-box binding protein 1 (XBP1) C--116G polymorphisms in bipolar disorders and age of onset

X-box binding protein 1 (XBP1), a critical gene in the endoplasmic reticulum stress response, is located on chromosome 22q12, which has been linked with bipolar disorders in several studies. Recently, associations have been reported between a polymorphism (-116C --> G) in the promoter region of XBP1, and bipolar disorders in both case-control study and family-based association study, however, this finding is not yet confirmed by other research using independent sample populations. To replicate this finding and determine the association between onset age of bipolar disorders and the XBP1 C--116G polymorphism, we investigated the prevalence of this polymorphism in a Chinese population (153 bipolar disorder patients and 174 controls). We were unable, however, to demonstrate a significant association between the C--116G polymorphism and bipolar disorders (P = 0.674 for genotype and P = 0.436 for allele frequency) or age at onset (P = 0.563). Further, no association was demonstrated between this polymorphism and family history in bipolar disorder patients. These negative findings suggest that the XBP1 C--116G polymorphism does not play a major role in the pathogenesis of bipolar disorders in Chinese populations.     

利益传导视角下医疗服务价格改革对医务人员薪酬水平的影响*

目的：医疗服务价格改革对完善医疗服务合理定价,合理体现医务人员劳务价值,提高医务人员薪酬水平具有重要意义。方法：基于利益传导的视角,以医务人员劳务价值的体现为中介,采用定量研究方法,实证检验医疗服务价格对医务人员薪酬水平的影响。结果：医疗费用规模对医务人员薪酬水平有着显著的正向影响,但在门诊医疗和住院医疗二者间存在异质性,主要体现在劳务价值在医疗费用中的差异方面。结论：应持续深化医疗服务价格改革,提高医务人员薪酬水平。