Fetal RhD genotyping: A more efficient use of anti-D immunoglobulin

The most important application of blood group genotyping by molecular genetics is the prediction of fetal RhD phenotype in pregnant women with anti-D, in order to assess the risk of haemolytic disease of the fetus and newborn. This diagnostic test performed on cell-free fetal DNA in the maternal plasma, is now a routine procedure in some countries. High-throughput modifications of this form of fetal D-typing would be valuable for testing fetuses of all D-negative pregnant women to avoid unnecessary antenatal treatment with anti-D immunoglobulin in the 40% of D-negative pregnant women with a D-negative fetus. The results of trials in Bristol and Amsterdam suggest that such routine testing is feasible and accurate.     

The molecular immunology of human susceptibility to fungal diseases: lessons from single gene defects of immunity

Introduction: Fungal diseases are a threat to human health. Therapies targeting the fungus continue to lead to disappointing results. Strategies targeting the host response represent unexplored opportunities for innovative treatments. To do so rationally requires the identification and neat delineation of critical mechanistic pathways that underpin human antifungal immunity. The study of humans with single-gene defects of the immune system, i.e. inborn errors of immunity (IEIs), provides a foundation for these paradigms.

Areas covered: A systematic literature search in PubMed, Scopus, and abstracts of international congresses was performed to review the history of genetic resistance/susceptibility to fungi and identify IEIs associated with fungal diseases. Immunologic mechanisms from relevant IEIs were integrated with current definitions and understandings of mycoses to establish a framework to map out critical immunobiological pathways of human antifungal immunity.

Expert opinion: Specific immune responses non-redundantly govern susceptibility to their corresponding mycoses. Defining these molecular pathways will guide the development of host-directed immunotherapies that precisely target distinct fungal diseases. These findings will pave the way for novel strategies in the treatment of these devastating infections.     

多巴酚丁胺试验在心肌断层显像中的应用研究

采用多巴酚丁胺试验心肌断层显像的方法对14例可疑冠心病,8例心绞痛和3例心肌梗塞病人进行了检查。试验中发现,病人用药前后心率和血压的变化有显著性差异(P<0.01)。大部分受检者出现心悸、胸闷,少数病人有恶心、头痛,一般在停药后10分钟完全恢复正常,未发现严重副作用。结果表明,多巴酚丁胺试验效应近似运动生理变化,是一种安全有效的药物应激试验方法。结合心肌断层显像,对评价心肌缺血有较大临床意义。     

Diagnostische Bedeutung von Muskelbiopsien bei metabolischen Myopathien

Summary In the diagnosis of metabolic myopathies the use of biochemical methods, in addition to morphological examination of muscle biopsies, is often necessary in order to identify a specific metabolic defect. In order to narrow down the spectrum of biochemical methods, extensive clinical investigation and morphological examination, including histology, enzyme histochemistry and electromicroscopy if necessary have to be done beforehand. Patients are classified in the following groups: 1) progressive muscular weakness and/or muscle wasting with storage of a) glycogen, b) lipid or c) mitochondrial alterations; 2) recurrent rhabdomyolysis induced by fasting or exercise a) with glycogen storage or b) without any specific morphological alterations. The spectrum of metabolic defects comprises disorders of glycogen and glucose metabolism (deficiency of acid maltase, debranching and branching enzyme, phosphorylase, phosphofructokinase and other glycolytic enzymes), lipid metabolism (carnitine deficiency, carnitine palmitoyl transferase deficiency), mitochondria (respiratory chain disorders, pyruvate dehydrogenase deficiency) and others such as adenylate deaminase deficiency. In some of these e.g. infantile acid maltase deficiency and mitochondriopathies, it is clinically more important when organs other than muscle are affected; however, muscle biopsy is a useful substrate for diagnosis of these metabolic disorders.

Mit Unterstützung durch die DFG und die Friedrich Baur Stiftung, München     

Diagnostic difficulties in the interpretation of needle aspiration material from large renal cysts

In recent years, fine-needle-aspiration biopsies (FNA) have been widely used in the evaluation of renal masses, with false-positive FNA data being very uncommon. We present a case report of a 76-yr-old man with a 16-cm renal cyst and what was interpreted as an isolated calcified mural nodule. Following drainage of the main cyst fluid, FNA biopsy showed atypical cell clusters thought to be positive for malignancy. Subsequent surgery failed to disclose either a residual mural nodule or evidence of malignancy. Immunoperoxidase studies performed on both the cell block and actual cyst wall suggested that the abnormal cells were histiocytes. The diagnostic pitfalls of this case, along with a review of pertinent literature, are discussed. Diagn Cytopathol 1994; 11:380–384. © 1994 Wiley-Liss, Inc.     

The Effect of Medication Reconciliation via a Patient Portal on Medication Discrepancies: A Randomized Noninferiority Study

BackgroundMedication reconciliation has become standard care to prevent medication transfer errors. However, this process is time-consuming but could be more efficient when patients are engaged in medication reconciliation via a patient portal.ObjectivesTo explore whether medication reconciliation by the patient via a patient portal is noninferior to medication reconciliation by a pharmacy technician.Design (including intervention)Open randomized controlled noninferiority trial. Patients were randomized between medication reconciliation via a patient portal (intervention) or medication reconciliation by a pharmacy technician at the preoperative screening (usual care).Setting and ParticipantsPatients scheduled for elective surgery using at least 1 chronic medication were included.MeasuresThe primary endpoint was the number of medication discrepancies compared to the electronic nationwide medication record system (NMRS). For the secondary endpoint, time investment of the pharmacy technician for the medication reconciliation interview and patient satisfaction were studied. Noninferiority was analyzed with an independent t test, and the margin was set at 20%.ResultsA total of 499 patients were included. The patient portal group contained 241 patients; the usual care group contained 258 patients. The number of medication discrepancies was 2.6 ± 2.5 in the patient portal group and 2.8 ± 2.7 in the usual care group. This was not statistically different and within the predefined noninferiority margin. Patients were satisfied with the use of the patient portal tool. Also, the use of the portal can save on average 6.8 minutes per patient compared with usual care.Conclusions and ImplicationsMedication reconciliation using a patient portal is noninferior to medication reconciliation by a pharmacy technician with respect to medication discrepancies, and saves time in the medication reconciliation process. Future studies should focus on identifying patient characteristics for successful implementation of patient portal medication reconciliation.     

多普勒超声及Fibroscan评分系统在慢性乙型肝炎肝纤维化诊断中的应用价值

目的:探讨基于多普勒超声及Fibroscan构建的肝纤维化无创评分系统对慢性乙型肝炎患者的肝纤维化诊断价值。方法:选取在医院行超声引导下肝穿刺活检的300例乙型肝炎患者,根据肝穿刺活检结果将其分为肝纤维化组(172例)和非肝纤维化组(128例)。比较两组患者的性别、年龄、病程、彩色多普勒超声检查结果与Fibroscan硬度值(LSM值),将差异有统计学意义的变量纳入多因素Logistic回归分析中确定肝纤维化影响因素。根据逐步Logistic回归分析筛选出影响因素的标准化回归系数β得到相应的评分赋值,构成肝纤维化无创评分系统。绘制受试者工作特征(ROC)曲线,分析该评分系统诊断肝纤维化的诊断效能,确定最佳临界值以及敏感性和特异性。为进一步验证该评分系统对肝纤维化的诊断价值,另选行肝穿刺活检的100例乙型肝炎患者进行评分。结果:肝纤维化组中男性、肝被膜欠光滑、肝实质回声不均匀、肝内光点增粗、肝静脉清晰度较差的占比均明显高于非肝纤维化组,差异有统计学意义(χ²=4.089,χ²=12.105,χ²=7.792,χ²=9.383,χ²=7.053;P<0.05);脾长径、脾厚度、脾脏面积、胆囊壁厚度、肝固有动脉峰值血流速度(HAV_max)、肝固有动脉/门静脉峰值流速的比值(A/P)、肝脏硬度值(LSM)均明显高于非肝纤维化组,门静脉峰值血流速度(PVV_max)、脾静脉峰值血流速度(SVV_max)、肝脏循环指数(HCI)明显低于非肝纤维化组,差异有统计学意义(t=2.296,t=2.228,t=2.364,t=5.970,t=2.864,t=6.083,t=10.268,t=2.925,t=5.749,t=2.209;P<0.05)。多因素Logistic回归分析证实,患者性别、肝被膜光滑程度、肝实质回声、肝内光点增粗、肝静脉清晰度、胆囊壁厚度、HCI、A/P以及LSM值是肝纤维化的影响因素。根据筛选出的影响因素的标准化回归系数β得到对应评分赋值,最终该评分系统的总分为0~12分,其中0~7分为低危,8~9分为中危,10~12分为高危。以患者总评分为自变量、肝纤维化情况为因变量绘制的ROC曲线下面积为0.948(95%CI:0.835~0.989),最佳临界值为10分,此时灵敏度和特异度分别为93.46%和81.05%。100例乙型肝炎患者基于评分系统的诊断结果与肝穿刺结果有高度一致性(Kappa值=0.762)。结论:基于彩色多普勒超声和FibroScan所构建的肝纤维化无创评分系统可为肝纤维化的诊断及抗纤维化提供有力依据。     

脊柱术后感染病原菌及CD64和中性粒细胞百分比的早期预测价值

目的分析脊柱术后医院感染患者病原菌分布特征及中性粒细胞64(CD64)和中性粒细胞百分比(NEU%)表达情况。方法选取2017年6月-2019年6月天津市天津医院收治的脊柱术后医院感染患者51例为感染组,并选取同期于医院就诊的脊柱术后未发生感染患者51例为未感染组。分析感染组患者病原菌情况,检测患者NEU和CD64水平;ROC曲线分析CD64和NEU%指标水平预测感染的诊断价值。结果 51例感染患者共培养分离病原菌78株,其中革兰阴性菌42株(53.85%)、革兰阳性菌33株(42.31%)、真菌3株(3.85%),以铜绿假单胞菌及金黄色葡萄球菌为主。术后7 d,感染组体温、WBC、中性粒细胞计数、CRP、ESR分别为(38.47±0.52)℃、(8.34±2.17)×109/L、(5.98±1.94)×109/L、(54.52±19.93)mg/L、(51.74±21.88)mm/h均高于非感染组(P<0.05)。术后7 d,感染组CD64、NEU%分别为(8.87±2.13)%、(84.93±13.39)高于非感染组(P<0.05)。CD64指数与NEU%水平诊断ROC曲线下面积分别为0.922、0.826。结论脊柱术后医院感染以革兰阴性菌为主,CD64及NEU%水平有助于脊柱术后医院感染的早期诊断。     

312例儿童屈光不正性斜视分析

目的：探讨儿童屈光不正与伤痛视的关系。方法：将共同性斜视312例分为两组,3-6岁为学龄前组,7-12岁为学龄组进行比较。结果：237例内斜中,远视227例,占95.78%;近视10例,占4.22%。75例外斜中,远视42例,占56%;近视33例,上44%。结论：屈光不正性斜视的发病率。内斜视多于外斜视,学龄前组高于学龄组,内外伤痛视中,远视明显多于近视,将对斜视弱视治疗防治有一定参考价值。