超声心动图在肥厚型心肌病诊断中的应用价值

目的:分析超声心动图在肥厚型心肌病诊断中的应用效果及临床价值。方法:将某院2014年1月~2019年5月收治的200例肥厚型心肌病患者作为研究组,150例健康体检者作为常规组,对比两组的监测后的结果。结果:经分析,研究组的舒张末期直径、射血分数与常规组相比,无差异(P>0.05);研究组的心尖厚度较常规组厚(P<0.05);研究组的心肌重量较常规组重(P<0.05);研究组的左房径长于常规组(P<0.05)。结论:在肥厚型心肌病患者中超声心动图的应用具有较高的诊断价值,可以为临床治疗该疾病提供有效的依据。     

Noninvasive prenatal screening for RHD: the Stockholm study

The non-invasive technique to determine fetal RHD status opens the opportunity to change the antenatal screening and Rh-prophylaxis programs. During the period September 2009 to December 2011, we performed a study in the Stockholm area with approximately 27000 pregnancies per year. The study included routine cell free fetal DNA (cffDNA) RHD genotyping in early pregnancy followed by targeted RAADP in gestational week 29 to all RhD negative pregnant women carrying an RHD positive fetus. The new approach in our strategy, compared to previous studies, was that fetal RHD screening was done in early pregnancy at the first antenatal visit and based on a single-exon 4 assay. The implementation of this new screening program in a routine clinical setting is described. The final results of the study are still under analysis. The conclusion until now is that fetal RHD screening in early pregnancy is feasible and accurate with a high sensitivity and specificity, provided samples before gestational week eight were excluded.     

Recognition of moyamoya disease and its hemorrhagic risk using deep learning algorithms:sourced from retrospective studies

Although intracranial hemorrhage in moyamoya disease can occur repeatedly, predicting the disease is difficult. Deep learning algorithms developed in recent years provide a new angle for identifying hidden risk factors, evaluating the weight of different factors, and quantitatively evaluating the risk of intracranial hemorrhage in moyamoya disease. To investigate whether convolutional neural network algorithms can be used to recognize moyamoya disease and predict hemorrhagic episodes, we retrospectively selected 460 adult unilateral hemispheres with moyamoya vasculopathy as positive samples for diagnosis modeling, including 418 hemispheres with moyamoya disease and 42 hemispheres with moyamoya syndromes. Another 500 hemispheres with normal vessel appearance were selected as negative samples. We used deep residual neural network(Res Net-152) algorithms to extract features from raw data obtained from digital subtraction angiography of the internal carotid artery, then trained and validated the model. The accuracy, sensitivity, and specificity of the model in identifying unilateral moyamoya vasculopathy were 97.64 ± 0.87%, 96.55 ± 3.44%, and 98.29 ± 0.98%, respectively. The area under the receiver operating characteristic curve was 0.990. We used a combined multi-view conventional neural network algorithm to integrate age, sex, and hemorrhagic factors with features of the digital subtraction angiography. The accuracy of the model in predicting unilateral hemorrhagic risk was 90.69 ± 1.58% and the sensitivity and specificity were 94.12 ± 2.75% and 89.86 ± 3.64%, respectively. The deep learning algorithms we proposed were valuable and might assist in the automatic diagnosis of moyamoya disease and timely recognition of the risk for re-hemorrhage. This study was approved by the Institutional Review Board of Huashan Hospital, Fudan University, China(approved No. 2014-278) on January 12, 2015.     

Management of malignant spinal cord compression

Metastatic cord compression is one of the most serious complications of cancer. It is an emergency that requires rapid decision making involving several specialities, given the risk of permanent spinal cord injury. Patients may present with various clinical signs such as pain and neurological dysfunction with interventions aiming to improve both of these. Diagnosis is made through detailed history and examination followed by specific radiological investigations. The standard of care in most cases is rapid initiation of corticosteroids in combination with either surgical decompression in case of an operable candidate, followed by radiation therapy or radiotherapy alone. This process has recently been improved by the use of decision frameworks such as NOMS (neurologic, oncologic, mechanical, and systemic), to help clinicians’ direct treatment. This article represents an overview of the pathogenesis, investigations and management of metastatic cord compression. It references up-to-date national guidance and evidence-based protocols which should inform both surgical and nonsurgical clinicians.     

骨髓增生异常综合征最低诊断标准 （2017） 解读

骨髓增生异常综合征 （MDS） 是一组异质性髓系克隆性疾病， 特征是外周血细胞减少、 发育异常、 大约30% 向急性髓系白血病 （AML） 转化。在过去的15年中， MDS诊断、 预后和治疗大幅改善。然而， 随着分子标志和靶向治疗的出现， MDS面临新的挑战。本文对MDS最低诊断标准的更新及MDS前期疾病进行总结。     

An integrated multifunctional platform based on biotin-doped conducting polymer nanowires for cell capture,release, and electrochemical sensing

Here, we propose an integrated multifunctional system constructed by conductive disulfide-biotin-doped polypyrrole nanowires (SS-biotin-Ppy NWs) for capture, release, and in situ quantification of circulating tumor cells (CTCs). A well-ordered three-dimensional nanowire structure equipped with a monoclonal antibody offers a significant impact on the cell-capture efficiency, as well as on electrical- or glutathione (GSH)-mediated release of the captured cells. In addition, the electrochemical identification/detection of the captured cancer cells can be directly conducted on the same Ppy NW platform by using horseradish peroxidase (HRP)-labeled and anti-EpCAM-conjugated nanoparticles (HRP/anti-EpCAM Ppy NPs), showing very high sensitivity and specificity. The signal amplification can be clearly attributed to the catalytic response resulting from enzymatic reduction of hydrogen peroxide on Ppy NWs, consequently generating a greatly increased amperometric response with a detection range of 10 to 1 × 10⁴ cells and a detection limit of as low as 10 cells. Overall, the proposed Ppy NWs not only present a promising platform for effective cell capture and release but also permit cytosensing capability for on-site analysis.     

Improving outcomes of acute myocarditis in children

Acute viral myocarditis may impair prognosis in children of all ages. Its true incidence is underestimated because of heterogeneity of presentation and outcome. Patients may either recover or progress to chronic cardiomyopathy or death. Improving short-term and long-term prognosis is challenging but can probably be achieved by new diagnostic techniques and novel targeted therapies. The objectives of this review are: (1) to detail the current state of knowledge of the pathophysiological mechanisms of acute myocarditis; (2) to provide an update on diagnostic tools such as magnetic resonance imaging and endomyocardial biopsy; and (3) to present new insights in therapeutic strategies, targeted therapies and management of fulminant cases. Options for improving outcomes in acute myocarditis in the pediatric population are discussed.     

伴骨及软骨化生的肺髓脂肪瘤1例

目的:探讨肺髓脂肪瘤的临床病理特点、诊断、鉴别诊断及肿瘤发生的来源。方法:复习1例肺髓脂肪瘤的临床资料,行组织学和免疫组织化学观察。结果:63岁患者CT强化扫描示左肺主支气管内一类圆形不均匀密度肿物,边缘光整。大体检查:肿瘤2 cm×1 cm×0.5 cm大小,切面灰白或灰黄色,质地不均,部分区域质硬如骨样组织。光镜显示:低倍镜见骨小梁组织环形围绕脂肪和造血样组织,局灶可见软骨组织。高倍镜见粒、红、巨核细胞系,三系细胞形态无异常。免疫组织化学染色显示:髓细胞髓过氧化物酶(+),巨核细胞CD61(+)。结论:肺髓脂肪瘤非常罕见,确诊依赖病理学检查,形态学典型,认识该疾病有助于避免临床影像学的误诊。