Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family

Brachydactyly type A (BDA) is defined as short middle phalanges of the affected digits and is subdivided into four types (BDA1‐4). To date, the molecular cause is unknown. However, there is some evidence that pathogenic variants of HOXD13 could be associated with BDA3 and BDA4. Here, we report a Chinese autosomal dominant BDA3 pedigree with a novel HOXD13 mutation. The affected individuals presented with an obviously shorter fifth middle phalanx. The radial side of the middle phalanx was shorter than the ulnar side, and the terminal phalanx of the fifth finger inclined radially and formed classical clinodactyly. Interestingly, the index finger was normal. The initial diagnosis was BDA3. However, the distal third and fourth middle phalanges were also slightly affected, resulting in mild radial clinodactyly. Both feet showed shortening of the middle phalanges, which were fused to the distal phalanges of the second to the fifth toes, as reported in BDA4. Therefore, this pedigree had combined BDA3 and atypical BDA4. By direct sequencing, a 13 bp deletion within exon 1 of HOXD13 (NM_000523.4: c.708_720del13; NP_000514.2: p.Gly237fs) was identified. The 13 bp deletion resulted in a frameshift and premature termination of HOXD13. This study provides further evidences that variants in HOXD13 cause BDA3‐BDA4 phenotypes.     

rhGM-CSF作为成人乙肝疫苗无(弱)应答者免疫佐剂初探

Objective To investigate the effect of recombinant human granulocyte macrophage colony stimulating factor (rhGM-CSF) as adjuvant on immune response in adults of non-and hyporesponders to hepatitis B vaccine. Methods Those who were once immunized with recombined yeast gene hepatitis B vaccine more than one standard scheme in two years and negative for hepatitis B markers were randomly sorted as group A and group B. 33 adults of group A were given hepatitis B vaccine 10 μg each time. The immune procedure was O, 1 and 6month. 34 adults of group B were given rhGM-CSF 300 μg for the first day, then 10 μg each time for routine immune. The blood samples were collected before the first injection and in 1, 2 and 8 months (T1, T2, TS)following the first injection to test Anti-HBs. Results Anti-HBs positive conversion rates of group A and B at T8 was 39.39% and 64.71% respectively(P=0.038). Anti-HBs levels of group B at TI, T2, T8 were(113.85±198.56) mIU/ml, (312.40±349.44) mIU/ml, (427.74±411. 58) mIU/ml (P=0.001). There was significant difference between group A and B in T8 Anti-HBs levels(P=0.010). Conclusion Better immune response was found in the group of rhGM-CSF with hepatitis B vaccine. So rhGM-CSF can induce the immune respond to hepatitis B vaccine.     

Nucleolar localization of non-structural protein 3b, a protein specifically encoded by the severe acute respiratory syndrome coronavirus

The open reading frame 3 (ORF3) of the severe acute respiratory syndrome coronavirus (SARS-CoV) genome encodes a predicted 154-amino acid protein, which lacks similarities to any known protein, and is named 3b. In this study, it was shown that 3b protein was predominately localized to nucleus with EGFP tag at its N- or C-terminus. The localization patterns were similar in different transfected cells. Immuno-fluorescence assay revealed that 3b protein was co-localized well with C23 in nucleolus. C23, B23 and fibrillarin all are important nucleolar proteins, which localize in the region of the nucleolus. Co-transfection of p3b-EGFP with pC23-DsRed, pB23-DsRed and pfibrillarin-DsRed further confirmed 3b's nucleolus localization. With construction of serial truncated mutants of 3b, a region (residues 134-154 aa) responsible for nucleolar localization was determinated in 3b protein. These results provide a new insight for further functional studies of SARS-CoV 3b protein.     

重组人bFGF的原核表达及其高效价抗血清的制备

目的 以重组人碱性成纤维生长因子为免疫原，制备高效价抗hbFGF抗血清。方法通过PCR方法改造5’编码区的12个密码子，构建hbFGF’原核表达载体并在大肠杆菌(E．coli)中表达，以纯化的hbFGF、免疫新西兰兔，制备高效价抗血清，用于重组hbFGF、的免疫印迹分析。结果经过改造的hbFGF基因在E．coli中获得较高水平表达。从可溶性部分纯化得到纯度95％以上的重组hbFGF，以该重组蛋白免疫兔子，在二次加强后以间接ELISA检测抗血清效价可达1：512000。免疫印迹分析显示该抗血清与E．coli中表达的重组hbFGF、和标准hbFGF、均有特异性反应，但与某些细菌蛋白存在弱交叉反应，经E．coli菌体蛋白吸附的抗血清，与菌体蛋白的弱交叉反应消失。结论以纯化的重组hbFGF为免疫原制备了高效价的特异性抗血清，经菌体蛋白吸附可消除存在的交叉反应性。     

中晚期重型乙型肝炎血浆置换与内科治疗生存率的比较

观察血浆置换、内科治疗对中晚期重型乙型病毒性肝炎生存率的影响,探索中晚期重型肝炎的治疗方法。方法观察在内科治疗基础上给予血浆置换患者的肝功能、并发症及疾病的转归,与同期仅予内科综合治疗的患者相比较,对相应的临床资料进行统计学分析,从而了解两种治疗方法的疗效。结果血浆置换组36例,18例好转、18例死亡,内科治疗组32例,13例好转、19例死亡,两组之间患者生存情况无统计学差异;肝功能指标(ALT、AST、SB、ALB、TC、ChE和凝血酶原时间(PT)也无统计学差异。结论与内科治疗相比较,在其基础上给予血浆置换并不能提高中晚期重型病毒性肝炎生存率;中晚期重型肝炎患者的预后决定于其肝功能衰竭的程度。     

Initial evaluation of a continuous speech recognition program for radiology

The aims of this work were to measure the accuracy of one continuous speech recognition product and dependence on the speaker's gender and status as a native or nonnative English speaker, and evaluate the product's potential for routine use in transcribing radiology reports. IBM MedSpeak/Radiology software, version 1.1 was evaluated by 6 speakers. Two were nonnative English speakers, and 3 were men. Each speaker dictated a set of 12 reports. The reports included neurologic and body imaging examinations performed with 6 different modalities. The dictated and original report texts were compared, and error rates for overall, significant, and subtle significant errors were computed. Error rate dependence on modality, native English speaker status, and gender were evaluated by performing ttests. The overall error rate was 10.3 +/- 3.3%. No difference in accuracy between men and women was found; however, significant differences were seen for overall and significant errors when comparing native and nonnative English speakers (P = .009 and P = .008, respectively). The speech recognition software is approximately 90% accurate, and while practical implementation issues (rather than accuracy) currently limit routine use of this product throughout a radiology practice, application in niche areas such as the emergency room currently is being pursued. This methodology provides a convenient way to compare the initial accuracy of different speech recognition products, and changes in accuracy over time, in a detailed and sensitive manner.     

癫癎患者脑血流速度改变与癫癎灶定侧的关系

目的 :探讨癫发作间期脑血流变化对癫灶定侧的价值。方法 :4 7例癫病人发作间期行经颅多普勒超声脑血流速度测定 ,并与临床、脑电图定位和MRI/CT病灶对比分析。结果 :根据临床症状确定病灶侧的 19例病人中 ,病灶侧脑血流速度改变 (升高和降低 )的比率显著高于双侧脑血流速度对称者 ;在脑电图确定病灶侧的 2 4例病人中 ,病灶侧脑血流速度升高比率显著高于脑血流速度降低和双侧脑血流速度对称者 ;在MRI确定病灶侧的 13例病人中 ,病灶侧脑血流速度增快 7例 ,减慢 2例 ,双侧血流速度对称 4例。结论 :癫病人一侧脑血流速度增高 ,高度提示癫病灶侧。     

PCOS患者AMH水平与性激素及胰岛素抵抗的相关性研究

目的 探讨多囊卵巢综合征(PCOS)患者血清抗苗勒管激素(AMH)水平与性激素及胰岛素抵抗(IR)的相关性.方法 选取2019年1月至12月在西安交通大学第一附属医院妇科内分泌门诊及西北工业大学医院妇科确诊的PCOS患者109例,测定患者血清AM H、性激素水平,应用稳态模型评估胰岛素抵抗指数(HOMA-IR),分析PCOS患者不同AM H水平的性激素及IR值的差异,以及性激素、IR对AM H的影响.结果 对PCOS患者,根据血清AM H检测值按百分位(<25％,25％ ～75％,>75％)进行分层,随着AMH百分位逐渐升高,体质量指数(BMI)、HOMA-IR值均降低(F值分别为3.354、3.712,P<0.05),同时黄体生成素(LH)、睾酮(T)值均升高(F值分别为3.355、3.317,P<0.05).相关性分析显示,血清AMH水平与BMI、HOMA-IR均呈显著负相关(r分别为-0.228、-0.214,P<0.05),与L H、T均呈显著正相关(r分别为0.344、0.327,P<0.01).进一步多元回归分析显示,在控制BMI后,LH及T对AMH存在显著正向影响(β=0.258,P<0.05;β=0.291,P<0.01).结论 PCOS患者血清AMH水平与LH、T均呈正相关,其与HOMA-IR的负相关关系可以由BMI解释.     

周围型肺癌的螺旋CT增强扫描

目的 :评价螺旋CT增强薄层扫描对周围型肺癌的诊断价值。方法 :2 7例周围型肺癌 ,对结节进行薄层扫描 ,然后以 3 5ml/s肘静脉注射碘对比剂 10 0ml后 40s、2min、5min、8min于相同几个中心层面进行增强扫描。分析结节的强化类型 ,描绘结节的时间 -密度曲线 ,计算结节的最大增强CT值。结果 :根据病灶的强化特点 ,我们将周围型肺癌强化类型分为二型 ,即均匀强化型和不均匀强化型。本组 2 7例肺癌 ,其中 17例 (6 3 % )在注射对比剂后 2min达到高峰 ,另外 10例 (37% )在注射对比剂后 5min达到峰值。本组病例中肺癌最大强化CT值 2 2～ 5 5HU(2 5 / 2 7) ,平均为 (4 1 8± 14 5 )HU。结论 :螺旋CT增强薄层扫描能准确判断病灶增强程度及方式 ,对提高周围型肺癌的诊断准确率有较大帮助。     

东方田鼠室内繁殖与生长发育观察

近年来,逐渐增多的小鼠突变系资源已对现有的动物设施和品种（系）的保存方法提出严峻的挑战,小鼠胚胎和配合子的低温保存是目前保存小鼠种群资源中应用最为广泛的方法,通过低温保存不仅使原有的或新开发的小鼠品系得以安全的,长期的保存下来,同时也使这些小 模型的规模化生产,推广普及变得更为简单化,无疑,小鼠模型的保存将为21世纪哺乳类遗传学的飞速发展和最终攻克人类目前的疑难疾病创造了有利条件。