The assessment of sniff nasal inspiratory pressure in patients with Duchenne muscular dystrophy in China

Objective

Progressive weakness of respiratory muscles remains one of the leading causes of death among patients with Duchenne muscular dystrophy (DMD). Currently, there are few pulmonary function data among Chinese DMD patients. This study was carried out to evaluate the sniff nasal inspiratory pressure (SNIP) change among a group of Chinese DMD patients, and compare it with the SNIP value of patients with neuromuscular disorders in other countries.

己糖对杜兴肌肉萎缩症核酸药物Pip5e-PMO跳读活性研究

目的:在杜兴肌肉萎缩症模型上探究己糖混合物对核酸药物Pip5e-PMO介导的外显子跳读活性的促进作用。方法:选择成年mdx小鼠为测试动物模型,通过局部肌肉和系统尾静脉注射,比较Pip5e-PMO与己糖和生理盐水联用的作用效果,利用免疫荧光（IHC）和蛋白印迹法（Western blot）检测dystrophin阳性肌纤维的数量和分布及dystrophin蛋白的表达水平;利用逆转录-聚合酶链式反应（RT-PCR）检测外显子跳读。结果:在局部肌肉给药试验中,己糖能够促进Pip5e-PMO诱导dystrophin蛋白表达水平（P<0.05）。在系统试验中,对己糖和生理盐水组比较发现:按15 mg/kg的剂量单次系统尾静脉注射Pip5e-PMO,骨骼肌中dystrophin蛋白表达恢复至正常水平的50%;在心脏中,也检测到明显的dystrophin恢复表达和外显子跳读。但两组无显著性差别（P>0.05）。结论: Pip5e-PMO可诱导有效的外显子跳读和dystrophin蛋白表达,但己糖对其促进效果有限。     

Micronodules Detected on Computed Tomography During the National Lung Screening Trial: Prevalence and Relation to Positive Studies and Lung Cancer

IntroductionIn the National Lung Screening Trial (NLST) all cases with a 4-mm nodule (micronodule) and no other findings were classified as a negative study. The prevalence and malignant potential of micronodules in the NLST is evaluated to understand if this classification was appropriate.Methods and MaterialsIn the NLST a total of 53,452 participants were enrolled with 26,722 undergoing low-dose computed tomography (CT) screening. To determine whether a micronodule developed into a lung cancer, a list from the NLST database of those participants who developed lung cancer and had a micronodule recorded was selected. The CT images of this subset were reviewed by experienced, fellowship-trained thoracic radiologists (R.F.M., C.C., P.M.B., and D.R.A.), all of whom participated as readers in the NLST.ResultsThere were 26,722 participants who underwent CT in the NLST, of which 11,326 (42%) participants had at least one CT with a micronodule. Five thousand five hundred sixty (49%) of these participants had at least one positive CT examination, of which 409 (3.6%) subsequently were diagnosed with lung cancer. Of the 409 lung cancer cases with a micronodule recorded, there were 13 cases in which a micronodule developed into lung cancer. Considering the 13 cases, they represent 1.2% (13 of 1089) of the lung cancers diagnosed in the CT arm of the NLST and 0.11% (13 of 11,326) of the total micronodule cases. Additionally they represent 0.23% (13 of 5560) of the micronodule and at least one positive CT examination cases and 3.2% (13 of 409) of the micronodule cases diagnosed with lung cancer. The average size of the nodule at baseline (recorded as maximum diameter by perpendicular diameter) was 3.0 × 2.5 mm (ranges 2 x 4 mm and 2 x 4 mm) and at the positive CT the nodule was 11.1 × 8.6 mm (ranges, 6 x 20 mm and 5 x 14 mm); a difference of average change in size of 8.1 × 6.1 mm. The average number of days from first CT with a micronodule recorded to positive CT was 459 days (range, 338 – 723 days), the mean time from first CT with micronodule to lung cancer diagnosis was 617 days (range, 380 – 1140 days) and the mean time from positive CT to lung cancer diagnosis was 160 days (range, 18 – 417 days). Histologically, there was one small cell carcinoma and 12 non–small cell with stages of IA in 8 (62%), stage IB in 2 (15%), and 1 each stage IIIA, IIIB, and IV. The overall survival of NSCLC cases with a micronodule was not significantly different than the survival of the CT subset diagnosed with NSCL (p = 0.36).ConclusionsMicronodules are common among lung cancer–screened participants and are capable of developing into lung cancer; however, following micronodules by annual CT screening surveillance is appropriate and does not impact overall survival or outcome.     

In-Line Observation of Laser Cladding Processes via Atomic Emission Spectroscopy

Direct metal deposition (DMD) can be used for the cladding of surfaces as well as repairing and additive manufacturing of parts and features. Process monitoring and control methods ensure a consistent quality during manufacturing. Monitoring by optical emission spectroscopy of the process radiation can provide information on process conditions and the deposition layer. The object of this work is to measure optical emissions from the process using a spectrometer and identify element lines within the spectra. Single spectra have been recorded from the process. Single tracks of Co-based powder (MetcoClad21) were clad on an S235 base material. The influence of varying process parameters on the incidence and intensity of element lines has been investigated. Moreover, the interactions between the laser beam, powder jet, and substrate with regard to spectral emissions have been examined individually. The results showed that element lines do not occur regularly. Therefore, single spectra are sorted into spectra including element lines (type A) and those not including element lines (type B). Furthermore, only non-ionised elements could be detected, with chromium appearing frequently. It was shown that increasing the laser power increases the incidence of type A spectra and the intensity of specific Cr I lines. Moreover, element lines only occurred frequently during the interaction of the laser beam with the melt pool of the deposition layer.     

运用多重连接探针检测DMD

目的杜氏肌营养不良是是由于抗肌萎缩蛋白的缺失、重复及点突变所致的一种X-连锁隐性遗传性神经肌肉病。目前运用多重PCR检测此基因热点区可以检测大部分病人的缺失突变,然而多重PCR不能检测非热点区及重复突变,且不能定量分析拷贝数。运用多重连接探针扩增（multiplex ligation—dependent probe amplification,MLPA）检测DMD可为临床诊断及产前诊断提供依据。方法本实验采用的多重连接探针扩增（MLPA）能快速、准确、半定量地分析患者及携带者缺失与重复突变的拷贝数,且检测范围涉及整个基因。结果15例DMD患者9例是由于缺失突变所致,6例未检测到缺失突变及重复突变。其中7例缺失突变病人经“一步到位法”多重PCR验证,2例缺失突变病人经多重PCR未检测到的缺失突变。结论MLPA是一种快速、准确、简便检测缺失及重复突变的方法。利用MLPA能检测所有DMD患者及携带者的缺失和重复突变。     

血清VEGF的表达与肌营养不良症的关系

目的检测肌营养不良症患者的血清血管生长因子（VEGF）水平,鉴定其是否与肌营养不良症的疾病发展有关。方法对46例肌营养不良患者,其中32例Duchenne肌营养不良症（DMD）、9例Becker肌营养不良症（BMD）、5例强直性肌营养不良症（DM）患者的血清VEGF水平进行检测。15例健康人和8例疾病患者为对照组。结果DMD患者血清VEGF为（274．7±2．52）pg／ml,BMD患者的为（358．8±9．64）pg／ml,DM患者为（165．0±6．34）pg／ml,而健康对照组为（148．3±2．91）pg/ml,疾病对照组为（153．7±5．42）pg／ml。与DM组和对照组相比,BMD的VEGF水平显著提高。而DMD组中卧床的患者相对于坐轮椅的DMD、DM组和对照组则VEGF水平显著升高。结论VEGF可以反映肌肉组织低氧和／或缺血状况,并且与DMD和BMD患者的疾病发展过程有关。     

无创伤性产前基因诊断X-连锁隐性遗传病Duchenne型肌营养不良(DMD)技术的建立

采用ZFY 2对引物及DMD9对引物,多重PCR反应体系,根据性别、基因缺失及连锁分析的结果,对3例进行性肌营养不良DMD患者家系进行无创伤性产前基因诊断,结果表明一例女性胎儿,两例男性胎儿,男性胎儿中一例与其先证者哥哥同为外显子48缺少,另一例同为基因突变型.结论无创伤性产前基因诊断X-连锁阴性遗传病DMD是可行的.     

DMD基因突变检测技术的回顾与展望

DMD是一类发病率较高的 X连锁隐性遗传病。DMD基因突变机制复杂 ,探索更直接、简便、准确的基因突变检测技术是目前对 DMD研究的热点。随着分子生物学的发展 ,DMD基因诊断技术取得了一定的进展 ,本文探讨了各项技术的优势与缺陷 ,并展望了生物芯片等新技术的应用前景