Inv(X)(p21.1;q22.1) in a man with mental retardation,short stature,general muscle wasting,and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene

We describe a 59-year-old male (patient A059) with moderate to severe mental retardation (MR) and a pericentric inversion of the X-chromosome: inv(X)(p21.1;q22.1). He had short stature, pectus excavatum, general muscle wasting, and facial dysmorphism. Until now, no other patients with similar clinical features have been described in the literature. Molecular analysis of both breakpoints led to the identification of a novel "Nuclear RNA export factor" (NXF) gene cluster on Xq22.1. Within this cluster, the NXF5 gene was interrupted with subsequent loss of gene expression. Hence, mutation analysis of the NXF5 and its neighboring homologue, the NXF2 gene was performed in 45 men with various forms of syndromic X-linked MR (XLMR) and in 70 patients with nonspecific XLMR. In the NXF5 gene four nucleotide changes: one intronic, two silent, and one missense (K23E), were identified. In the NXF2 gene two changes (one intronic and one silent) were found. Although none of these changes were causative mutations, we propose that NXF5 is a good candidate gene for this syndromic form of XLMR, given the suspected role of NXF proteins is within mRNA export/transport in neurons. Therefore, mutation screening of the NXF gene family in phenotypically identical patients is recommended.     

Investigation of optimal drug in moderate bronchial asthma]

BACKGROUND: Many drugs and the combinations of drugs are recommended for each treatment step in bronchial asthma. However, there are few issues examined about the optimal drug and combination of drugs in a long term prognosis. In this study, we investigated the optimal drugs and combinations of drugs from a point of view of prognosis. METHODS: One hundred and ninety four patients who visited our hospital for treatment from November, 2003 to October, 2004 and were managed according to GINA guideline were surveyed retrospectively. We compared the rate of step up and the frequency of urgent visit and urgent hospitalization in one year between drug groups in each treatment step. RESULTS: The rate of step up was significantly higher in leukotriene receptor antagonist (LTRA) group than in inhalation corticosteroid (ICS) group and theophylline group in Step 2. The frequency of urgent visit and urgent hospitalization was significantly higher in ICS+LTRA group than in ICS+theophylline group and ICS+long-acting beta 2-agonist (LABA) group in Step 3. CONCLUSION: There is a possibility that the prognosis becomes bad when we use LTRA in the practical treatment according to GINA guideline.     

维生素D3受体对hsp90β基因表达的调控作用

鉴于热休克蛋白９０β（ｈｓｐ９０β）基因内含子中含有维生素Ｄ３受体（ＶＤＲ）结合位点，为探讨作为核受体家族成员的ＶＤＲ是否对核受体特异分子伴侣的ｈｓｐ９０β基因的表达具有调控作用，我们开展了本项研究。分别将野生型ＶＤＲ、含Ｎ端（１～１３３氨基酸残基）及Ｃ端（２８１～４２７氨基酸残基）片段的ＶＤＲ突变体真核表达质粒与人ｈｓｐ９０β基因调控片段（－１０３９／＋１５３１）介导的氯霉素乙酰基转移酶（ＣＡＴ）报告基因质粒共转染Ｊｕｒｋａｔ细胞，检测正常及经热休克（４２℃，１ｈ）处理后细胞裂解液中ＣＡＴ活性。结果表明ＶＤＲＮ端增强、而Ｃ端抑制ｈｓｐ９０β的组成性表达；在热诱导条件下野生型ＶＤＲ对ｈｓｐ９０β的表达有一定的抑制作用，而其Ｃ端片段的抑制较强。为进一步研究ＶＤＲ对细胞内源性热休克基因表达的影响，我们用ＲＴＰＣＲ方法研究了ＶＤＲ的对细胞内ｈｓｐ９０β基因ｍＲＮＡ水平的影响，发现ＶＤＲ过表达对ｈｓｐ９０β的热诱导表达明显抑制。结果提示ＶＤＲ对ｈｓｐ９０β基因的组成性和热诱导表达的调控机制不同。     

人工假肢膝关节微电脑控制装置的研究

高位截肢的伤残病人，即使安装了人工假肢，也因为人工假肢的关节不能自由活动，因而行走起来很吃力，动作不协调，姿态不美观。如果在人工假肢的关节处安装一个步进电机，采用微电脑控制技术，使步进电机按照人的意志转动，那么人在行走（或奔跑、弹跳、上下楼梯、下蹬起立等）时，假肢的逼真程度将会大大提高，动作也就十分自然。本文就这种构想谈了制作过程。     

空肠弯曲菌HSP43诱导自身免疫机理──分子模拟和抗原优势

我们曾发现空肠弯曲菌４３ｋＤ热休克蛋白（ＨＳＰ４３）能诱导小鼠产生自身免疫应答，本文则进一步分析了这种诱导作用的机理。二株针对ＨＳＰ６０保守区序列的单克隆抗体ＩＩＨ９和ＭＬ－３０不但能结合人及小鼠细胞中ＨＳＰ６０家族成员，而且也能结合ＨＳＰ４３，表明ＨＳＰ４３、人及小鼠ＨＳＰ６０三者均属同一家族成员，具有序列上的高度同源性。小鼠用空肠弯曲菌免疫后出现了针对１０种菌体蛋白的抗体，其中最早被诱导的抗体是针对ＨＳＰ４３的，并且该种抗体在随后８０ｄ观察期间内保持了较高活性，表明ＨＳＰ４３是优势抗原。本文结果提示，ＨＳＰ４３较易被免疫系统识别而产生应答，通过和宿主ＨＳＰ６０高度序列同源性而可能呈现分子模拟，从而诱导自身免疫损伤。     

Adrenalectomy increases local cerebral blood flow in the rat hippocampus

The present study examined the effect of glucocorticoid manipulations on local cerebral blood flow in the hippocampus. We measured local cerebral blood flow in the hippocampus at 1-h intervals over a 1-day period in freely moving rats, by means of the H₂ clearance method, before and after sham adrenalectomy, adrenalectomy or adrenalectomy with corticosterone replacement. We also measured local cerebral blood flow in the prefrontal cortex before and after adrenalectomy. Four weeks after the adrenalectomy, hippocampal blood flow at each time of day was an average of 47% greater than before the operation, showing diurnal variation as before. After the sham adrenalectomy or adrenalectomy with corticosterone replacement, hippocampal blood flow did not change significantly with respect to either its level or its diurnal variation. Local cerebral blood flow in the prefrontal cortex increased by only 19% after adrenalectomy. The present study demonstrates that adrenalectomy causes a remarkable increase in hippocampal blood flow, probably due to a lack of corticosterone.     

Production of cytokines and PGE2 and cytotoxicity of stimulated bone marrow macrophages after thermal injury and cytotoxicity of stimulated U-937 macrophages

Bone marrow-derived macrophages from normal and burned rats were cultured for one and four days in the presence of LPS, PHA, or opsonized zymosan as activators, and the supernatants were assayed for the inflammatory mediators TNF, IL-6, and PGE₂ and the cells assayed for cytotoxicity. The macrophages responded differently to the various stimuli regarding cytotoxicity and the production of mediators, perhaps implicating the complement receptor CR1 in TNF production and the LPS receptor CD14 or the PHA lectin receptor in IL-6 and PGE₂ production and for cytotoxicity. The response of the cells also depended on culture time and postburn time; in addition, macrophages from burned and unburned animals responded differently, depending on postburn day and the type of stimulus. TNF production was generally higher for one-day compared to four-day cultures (i.e., TNF was disappearing in the cultures), but IL-6 and PGE₂ production was greater in four-day cultures. The results of this study suggest that thermal injury can contribute to the development of inflammatory and cytotoxic macrophages from bone marrow progenitor cells.     

Four-Dimensional Computerized Tomography （4D-CT） Reconstruction Based on the Similarity Measure of Spatial Adjacent Images

Objective：To investigate the feasibility of a 4D-CT reconstruction method based on the similarity principle of spatial adjacent images and mutual information measure. Methods：A motor driven sinusoidal motion platform made in house was used to create one-dimensional periodical motion that was along the longitudinal axis of the CT couch. The amplitude of sinusoidal motion was set to an amplitude of ±1 cm. The period of the motion was adjustable and set to 3.5 s. Phantom objects of two eggs were placed in a Styrofoam block, which in turn were placed on the motion platform. These objects were used to simulate volumes of interest Undergoing ideal periodic motion. CT data of static phantom were acquired using a multi-slice general electric （GE） LightSpeed 16-slice CT scanner in an axial mode. And the CT data of periodical motion phantom were acquired in an axial and cine-mode scan. A software program was developed by using VC ＋ ＋ and VTK software tools to resort the CT data and reconstruct the 4D-CT. Then all of the CT data with same phase were sorted by the program into the same series based on the similarity principle of spatial adjacent images and mutual information measure among them, and 3D reconstruction of different phase CT data were completed by using the software. Results：All of the CT data were sorted accurately into different series based on the similarity principle of spatial adjacent images and mutual information measures among them. Compared with the unsorted CT data, the motion artifacts in the 3 D reconstruction of sorted CT data were re- duced significantly, and all of the sorted CT series result in a 4D-CT that reflected the characteristic of the periodical motion phantom. Conclusion：Time-resolved 4D-CT reconstruction can be implemented with any general multi-slice CT scanners based on the similarity principle of spatial adjacent images and mutual information measure. The process of the 4D-CT data acquisition and reconstruction were not restricted to the hardware or software of the C     

HLA-DR、DQ等位基因与精神分裂症相关性的研究

目的 证明HLA-DR、DQ等位基因与精神分裂症的发病密切相关。方法 HLA-DR、DQ等位基因检测：PCR-SSP分型。结果 发现在大连地区随机选择的精神分裂症患者的HLA-DQ8基因的频率(9．0％)明显高于正常对照(2．5％)。精神分裂症患者的HLA-DR、DQ等位基因的某些位点与免疫指标的改变有相关性。结论 ①HLA-DQ8基因与精神分裂症有关联，可以认为HLA-DQ8基因可能是精神分裂症的易感基因。②HLA-DR、DQ等位基因的某些组合可能是精神分裂症发病的危险组合模式，对预测精神分裂症的基因易感性具有潜在的应用价值。③精神分裂症的免疫指标的改变与HLA-DR、DQ等位基因的某些位点有相关性，说明精神分裂症与它的免疫指标的变化可能有内在的联系。     

Custom step wedge blocking using dynamic multileaf collimation for parametrial pelvic boost irradiation following brachytherapy for carcinoma of the cervix

Carcinoma of the cervix is typically treated with a combination of intracavitary brachytherapy and external beam radiation. The external beam dose is delivered with whole pelvis fields followed by split fields that protect midline organs at risk (bladder and rectum) while treating the parametria. Three approaches have been developed to shield midline structures: a simple rectangular block, a block customized to a single brachytherapy isodose line, and a step wedge filter constructed to conform to multiple brachytherapy isodose lines. A customized step wedge filter has the potential to produce a more homogeneous dose distribution but has not achieved widespread use due to labor intensive construction. We have developed a simple, novel method to produce a custom midline step wedge using dynamic multileaf collimation (dMLC). A comparison of film measurements in a phantom with the dose calculated by a commercial treatment planning system demonstrated agreement within 3% or 3 mm. The technique requires delivery times comparable to conventional techniques.