Validating an ontology-based algorithm to identify patients with Type 2 Diabetes Mellitus in Electronic Health Records

BackgroundImproving healthcare for people with chronic conditions requires clinical information systems that support integrated care and information exchange, emphasizing a semantic approach to support multiple and disparate Electronic Health Records (EHRs). Using a literature review, the Australian National Guidelines for Type 2 Diabetes Mellitus (T2DM), SNOMED-CT-AU and input from health professionals, we developed a Diabetes Mellitus Ontology (DMO) to diagnose and manage patients with diabetes. This paper describes the manual validation of the DMO-based approach using real world EHR data from a general practice (n = 908 active patients) participating in the electronic Practice Based Research Network (ePBRN).MethodThe DMO-based algorithm to query, using Semantic Protocol and RDF Query Language (SPARQL), the structured fields in the ePBRN data repository were iteratively tested and refined. The accuracy of the final DMO-based algorithm was validated with a manual audit of the general practice EHR. Contingency tables were prepared and Sensitivity and Specificity (accuracy) of the algorithm to diagnose T2DM measured, using the T2DM cases found by manual EHR audit as the gold standard. Accuracy was determined with three attributes – reason for visit (RFV), medication (Rx) and pathology (path) – singly and in combination.ResultsThe Sensitivity and Specificity of the algorithm were 100% and 99.88% with RFV; 96.55% and 98.97% with Rx; and 15.6% and 98.92% with Path. This suggests that Rx and Path data were not as complete or correct as the RFV for this general practice, which kept its RFV information complete and current for diabetes. However, the completeness is good enough for this purpose as confirmed by the very small relative deterioration of the accuracy (Sensitivity and Specificity of 97.67% and 99.18%) when calculated for the combination of RFV, Rx and Path. The manual EHR audit suggested that the accuracy of the algorithm was influenced by data quality such as incorrect data due to mistaken units of measurement and unavailable data due to non-documentation or documented in the wrong place or progress notes, problems with data extraction, encryption and data management errors.ConclusionThis DMO-based algorithm is sufficiently accurate to support a semantic approach, using the RFV, Rx and Path to define patients with T2DM from EHR data. However, the accuracy can be compromised by incomplete or incorrect data. The extent of compromise requires further study, using ontology-based and other approaches.     

Polymorphism in miRNA-1 target site and circulating miRNA-1 phenotype are associated with the decreased risk and prognosis of coronary artery disease

MiRNA molecules have been identified to play key roles in a broad range of physiologic and pathologic processes. Polymorphisms in microRNA target sites (PolymiRTSs) can disturb or obstruct miRNA binding and consequentially influence regulation of the target genes. A two-step study design was used in this study. A case-control study was designed to assess the relationship between miRNA-1 target site rs9548934C→T polymorphism in target gene (Component of Oligomeric Golgi Complex 6, COG6) and risk of coronary artery disease (CAD) in 1013 patients and 610 normal controls. This genetic variant was also evaluated for the association with major adverse cardiovascular events (MACE) of CAD in a follow-up study, including 785 (785/1013) patients followed up for 42 months. The phenotypes of circulating miRNA-1 levels in 34 cases were slightly lower than that of 40 controls but not significantly different (P = 0.090). The CT and CT/TT genotypes were associated with a 34% and 26% decreased risk of CAD, and the TT and CT/TT genotypes were associated with a 76% and 49% decreased risk of MACE of CAD. Cox regression analysis showed that rs9548937 C/T variant was associated with a decreased risk of MACE, while age, diabetes mellitus, higher levels of CRP (≥ 3.80 mg/L) and three pathological changes in the coronary artery were associated with an increased risk of MACE. Our findings implicate miRNA-1 target site rs9548934C→T genotypes, circulating miRNA-1 phenotype and CRP levels may modulate the occurrence and MACE of CAD.     

头颈部炎性肌纤维母细胞瘤

目的 炎性肌纤维母细胞瘤（inflammatory myofibroblastic tumor,IMT）是一种可发生于头颈部的罕见肿瘤,本文就其临床表现、病理组织学特征、治疗及预后进行探讨.方法 回顾性分析4例头颈部IMT患者的临床资料,并进行光镜检查及免疫组化染色.结果 IMT肿瘤组织学由具有平滑肌细胞和纤维母细胞特征的梭形肿瘤细胞、大量慢性炎性细胞及黏液血管样背景构成.免疫组化：平滑肌特异性肌动蛋白（smooth muscle actiVe,SMACTIN）、波形蛋白（Vimentin）呈强阳性表达.术后随访9～21月,2例声带IMT无复发,1例上颌窦IMT无复发,另1例上颌窦鼻腔IMT术后4个月再次复发.结论 IMT是兼有纤维母细胞及平滑肌细胞特征的肿瘤,具有局部复发倾向.治疗以根治性手术切除为主,术后放疗、化疗效果不确定.鼻窦I MT极易复发,具有局部浸润行为,手术切除须彻底.     

食管癌内科治疗及综合治疗进展

食管癌的综合治疗已日益受到临床的重视,放疗、化疗、手术三者的结合是食管癌综合治疗的趋势,合理而有效的综合治疗,已取得较单一方法更为满意的疗效,提高了患者的长期生存率。新的化疗药物的应用、对新辅助化疗的认识、和对辅助性化疗的再认识是食管癌内科治疗领域近年来发展的亮点。本文综述了近年来相关重要文献和临床试验,对食管癌的内科治疗和综合治疗进展作一介绍和述评,尤其是在疗效、生存率和不良反应等方面。     

High-frequency Noise-induced Hearing Loss Disrupts Functional Connectivity in Non-auditory Areas with Cognitive Disturbances

Dear Editor, Approximately 500 million individuals suffer from hearing loss worldwide.The number of hearing-impaired individ-uals is estimated to increase to 90...     

干细胞移植治疗终末期肾病的实验研究

干细胞相关研究已成为目前生命科学研究的热点之一,而干细胞移植治疗疾病又是其中研究的重点。终末期肾病是各种慢性肾脏病进行性发展的最终结果,只能实施血液透析、腹膜透析和肾移植,前两者称为不完全替代治疗,并发症多、生存质量不高;肾移植为完全替代,然而由于供体短缺、免疫抑制、外科手术并发症[1]以及长期等待肾源[2],都限制了肾移植的开展,因此人们也希望将干细胞移植     

钾离子竞争性酸阻滞剂在酸相关疾病中的应用

酸相关疾病是一类消化系统中的常见慢性疾病.质子泵抑制剂现已成为治疗酸相关疾病的一线用药,然而临床应用中逐渐显现出一些局限性,如半衰期短、起效较慢、抑酸不充分、药理作用受CYP2C19基因多态性影响、夜间酸突破等,导致分酸相关疾病患者的症状不能获得充分缓解,以及难治、复发、直接的健康相关生活质量下降和经济负担增大.钾离子...     

Improving IMDC Prognostic Prediction Through Evaluation of Initial Site of Metastasis in Patients With Metastatic Renal Cell Carcinoma

BackgroundSeveral models are adopted in clinical practice to estimate prognosis of patients with metastatic renal cell carcinoma (mRCC); however, none of these models have evaluated patients treated by immune-checkpoint inhibitors. The aim of this study was to investigate if the site of initial metastasis could be a parameter able to stratified prognosis among patients with mRCC among different risk groups defined by the International Metastatic Renal Cell Database Consortium (IMDC) model. The site of initial metastasis was defined as the primary tissue or organ in which metastasis was diagnosed in the course of the medical history of the disease.Patients and MethodsA total of 134 patients treated between January 2010 and December 2018 in our institution were retrospectively evaluated. The primary outcome was overall survival (OS) defined as the time from initiation of first-line therapy to death from any cause. Of note, 26 (19.4%) patients received immune-checkpoint inhibitors. Univariable analysis was performed through the log-rank test to estimate the effect of number of metastatic sites and site of initial metastasis on OS. Subsequently, a Cox regression proportional hazards model was employed in multivariable analysis.ResultsOf the 12 variables analyzed, 4 were statistically associated to worse OS in univariable analysis (number of metastases and liver, bone, or central nervous system metastases). Multivariate analysis confirmed that bone (hazard ratio [HR], 1.92; 95% confidence interval [CI], 1.17-3.13), liver (HR, 2.65; 95% CI, 1.59-4.42), and central nervous system (HR, 3.3; 95% CI, 1.62-6.74) initial metastases were independent parameters related to worse OS. The presence of 1 or more of the selected sites recognized specific populations of patients associated to worse prognosis in both good (P = .003) and intermediate (P = .047) risk groups.ConclusionThe site of initial metastasis defines specific populations of patients associated with worse prognosis in the good and intermediate IMDC groups.