BACKGROUND & AIMS: :Invasive diagnostic and therapeutic techniques are indispensable for the diagnosis and interventional treatment of coronary artery disease, valvular involvement and, in particular, if the specific components of the inflammatory or degenerative processes in rheumatic disease are to be identified in the different components of the heart. Although impairment of cardiac function and ischaemia can be suspected also by non-invasive techniques, coronary involvement needs the final proof by angiography. Endomyocardial or epicardial biopsy identifies the key players of autoreactivity: the infiltrating cells and the bound and circulating antibodies. Before corticoid treatment is started, a viral or microbial aetiology has to be excluded at the site of cardiac inflammation. This again can only be done by the analysis of cardiac tissue samples.

背景与目标： : 侵入性诊断和治疗技术对于冠状动脉疾病，瓣膜受累的诊断和介入治疗是必不可少的，尤其是如果要在风湿病的不同成分中确定炎性或变性过程的特定成分心脏。尽管非侵入性技术也可以怀疑心脏功能和缺血的损害，但冠状动脉受累需要血管造影的最终证明。心内膜或心外膜活检可识别自身反应性的关键角色: 浸润细胞以及结合和循环抗体。在开始皮质激素治疗之前，必须在心脏炎症部位排除病毒或微生物病因。这只能通过分析心脏组织样本来完成。

BACKGROUND & AIMS: RATIONALE AND OBJECTIVES:Our purpose in this study was to investigate the usefulness of follow-up magnification mammograms (i.e., both current and previous magnification mammograms) in a computer-aided diagnosis (CAD) scheme for identifying the histological classification of clustered microcalcifications. MATERIALS AND METHODS:Our database consisted of current and previous magnification mammograms obtained from 93 patients before and after 3-month follow-up: 11 invasive carcinomas, 19 noninvasive carcinomas of the comedo type, 25 noninvasive carcinomas of the noncomedo type, 23 mastopathies, and 15 fibroadenomas. In our CAD scheme, we extracted five objective features of clustered microcalcifications from each of the current and previous magnification mammograms by taking into account image features that experienced radiologists commonly use to identify histological classifications. These features were then merged by a modified Bayes discriminant function for distinguishing among five histological classifications. For the input of the modified Bayes discriminant function, we used five objective features obtained from the previous magnification mammogram (previous features), five objective features obtained from the current magnification mammogram (current features), and the set of the five previous features and the five current features. RESULTS:The classification accuracies with the five current features were higher than those with the five previous features. These classification accuracies were improved substantially by using the set of the five previous features and the five current features. For the set of the five previous features and the five current features, the classification accuracies of our CAD scheme were 81.8% (9 of 11) for invasive carcinoma, 84.2% (16 of 19) for noninvasive carcinoma of the comedo type, 76.0% (19 of 25) for noninvasive carcinoma of the noncomedo type, 73.9% (17 of 23) for mastopathy, and 86.8% (13 of 15) for fibroadenoma. CONCLUSION:Our CAD scheme with use of follow-up magnification mammograms improved classification performance for mammographic clustered microcalcifications.

背景与目标：

BACKGROUND & AIMS: Evidence of a significant metabolic acidosis, an umbilical artery base deficit > 12 mmol/L, confirms that an asphyxial exposure has occurred. This is observed at delivery in approximately 2% of all pregnancies. Classification of the severity of the asphyxial exposure is difficult because the duration and nature of the exposure and the characteristics of the fetal cardiovascular response to the asphyxia in the affected fetus is usually not known. A classification is proposed in which the exposure to asphyxia is confirmed by a blood gas and acid-base assessment with evidence of a significant metabolic acidosis and the severity is defined by newborn encephalopathy and other organ system complications. Outstanding issues that may enhance this classification are identified.

背景与目标： 有明显代谢性酸中毒的证据，脐动脉基础缺陷> 12 mmol/L，证实发生了窒息暴露。在大约2% 的所有妊娠中，在分娩时观察到这一点。很难对窒息暴露的严重程度进行分类，因为通常不知道暴露的持续时间和性质以及受影响胎儿对窒息的胎儿心血管反应的特征。提出了一种分类，其中通过血气和酸碱评估确认了窒息的暴露，并有明显代谢性酸中毒的证据，并且严重程度由新生儿脑病和其他器官系统并发症定义。确定了可能会增强此分类的未决问题。

BACKGROUND & AIMS: :The Authors report their personal experience relating to diagnostic screening for prostatic carcinoma using serum assays for specific markers of this tumour: prostatic acid phosphatase (PAP) and prostatic specific antigen (PSA). They underline the importance of high serum values of these substances, especially in tumors in an advanced state, and point out that these markers can play a role both in the diagnosis and in the follow-up of prostatic carcinoma.

背景与目标： : 作者报告了他们的个人经验，他们使用血清检测该肿瘤的特定标志物 (前列腺酸性磷酸酶 (PAP) 和前列腺特异性抗原 (PSA)) 进行前列腺癌诊断筛查。他们强调了这些物质的高血清值的重要性，尤其是在晚期肿瘤中，并指出这些标志物可以在前列腺癌的诊断和随访中发挥作用。

BACKGROUND & AIMS: :Inborn errors of vitamin B(12) (cobalamin) metabolism are characterized by decreased production of active cobalamin cofactors and subsequent deficiencies in the activities of methionine synthase and methylmalonyl-CoA mutase. With the recent discovery of the cblJ defect in two patients with phenotypes mimicking the cblF defect, there are nine genes known to be involved in cobalamin metabolism. The new defect is caused by mutations in the ABCD4 gene, encoding an ABC transporter. At the moment, there is no clear distinction between the cblJ and cblF defects either clinically or biochemically, and both defects result in blocks in the transport of cobalamin from the lysosome to the cytoplasm. A patient was diagnosed with hyperhomocysteinemia and methylmalonic aciduria at the age of 8 years. Incorporations of both [(14)C]propionate and [(14)C]methyltetrahydrofolate in cultured fibroblasts were within reference ranges and thus too high to allow for complementation analysis. We observed decreased synthesis of both adenosylcobalamin and methylcobalamin and accumulation of unmetabolized cyanocobalamin. Exome sequencing was performed to identify causative mutation(s) and Sanger re-sequencing was performed to validate segregation of mutation in the family. By this approach, a homozygous mutation, c.423C>G, in the ABCD4 gene was identified. Here, we report the successful application of exome sequencing for diagnosis of a rare inborn error of vitamin B(12) metabolism in a patient whose unusual presentation precluded diagnosis using standard biochemical and genetic approaches. The patient represents only the third known patient with the cblJ disorder.

背景与目标： : 维生素b (12) (钴胺素) 代谢的先天性错误的特征是活性钴胺素辅因子的产生减少，随后蛋氨酸合酶和甲基丙二酰辅酶a变位酶的活性不足。随着最近在两名表型模仿cblF缺陷的患者中发现cblJ缺陷，已知有9个基因与钴胺素代谢有关。新的缺陷是由编码ABC转运蛋白的ABCD4基因突变引起的。目前，无论是在临床上还是在生化上，cblJ和cblF缺陷之间都没有明确的区别，这两个缺陷都会导致钴胺素从溶酶体到细胞质的转运受到阻碍。一名患者在8岁时被诊断出患有高同型半胱氨酸血症和甲基丙二酸尿症。培养的成纤维细胞中 [(14)C] 丙酸酯和 [(14)C] 甲基四氢叶酸的加入都在参考范围内，因此太高，无法进行互补分析。我们观察到腺苷钴胺和甲钴胺的合成减少以及未代谢的氰钴胺的积累。进行外显子组测序以鉴定致病突变 (s)，并进行了Sanger重新测序以验证家族中突变的分离。通过这种方法，在ABCD4基因中发现了一个纯合突变，c.423C>G。在这里，我们报告了外显子组测序在诊断罕见的先天性维生素b (12) 代谢错误中的成功应用，该患者的异常表现无法使用标准的生化和遗传学方法进行诊断。该患者仅代表第三位已知的cblJ疾病患者。

BACKGROUND & AIMS: OBJECTIVES:To describe the prevalence of oral diseases and their impact on oral-health-related quality of life in people with severe mental illness undertaking community-based psychiatric care. METHODS:A survey was conducted at eight outpatient psychiatric care clinics in Tower Hamlets, London, UK. One hundred and twelve consecutive patients with mental illness were invited to participate in this study. They were clinically examined and asked to complete the oral health impact profile (OHIP) questionnaire. RESULTS:The response rate was 79% (n = 89); 57 (64%) males and 58 persons over 45 years of age (65%) participated in this survey. Overall OHIP score was 25.4 (95% CI 23.3, 27.4), 70 (78%) were smokers and 45 (51%) had been to the dentist in the last two years. Forty-seven (53%) respondents had caries in at least one tooth, 60 (67%) had 21 teeth and more, and 14 (16%) used dentures. Advanced periodontal treatment was indicated in 42 (55%) of patients and 52.8% (n = 47) patients reported current pain. CONCLUSION:Overall, this survey found that oral health has a great impact on patients with severe mental illness being treated in the community setting and their oral health is poorer than the national adult general population. Future research should consider the causes that relate to the poorer oral health in this population and potential health promotion mechanisms in this population to encourage an upstream approach to health.

背景与目标：

BACKGROUND & AIMS: :Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD). This study aims to provide a better understanding of couples' motives for choosing ePND or ePND, and surveys couples' experiences in order to make recommendations for the improvement of counselling for exclusion testing. This qualitative retrospective interview study focussed on couples who underwent ePND or ePGD for HD in the period 1996-2010. Seventeen couples were included of which 13 had experienced ePND and 6 ePGD. Mean time-interval since exclusion-testing was 3.9 years. Couples' moral reservations regarding termination of pregnancy (TOP) or discarding healthy embryos were counterbalanced by the wish to protect their future child against HD. Seven couples had terminated a total of 11 pregnancies with a 50% HD risk, none showed regret. ePGD was used by couples who wanted to avoid (another) TOP. ePND and ePGD are acceptable reproductive options for a specific group of counsellees. To guarantee sound standards of care, it is imperative that candidate couples be given in-depth non-directive counselling about all possible scenarios, and adequate professional and psychological support prior to, during and after ePND/ePGD.

背景与目标： : 50% 亨廷顿舞蹈病 (HD) 风险的人不愿知道自己的携带者状态，可能会选择排除产前诊断 (ePND) 或排除植入前遗传学诊断 (ePGD)。本研究旨在更好地了解夫妻选择ePND或ePND的动机，并调查夫妻的经历，以便为改进排除测试的咨询提出建议。这项定性回顾性访谈研究的重点是在1996-2010年期间接受过ePND或ePGD治疗HD的夫妇。包括17对夫妇，其中13对经历过ePND和6对ePGD。自排除测试以来的平均时间间隔为3.9年。夫妻在终止妊娠 (TOP) 或丢弃健康胚胎方面的道德保留被保护其未来的孩子免受HD侵害的愿望所抵消。七对夫妇终止了11例怀孕，HD风险50%，没有人感到遗憾。想要避免 (另一个) 上衣的夫妇使用ePGD。ePND和ePGD是一组特定顾问可接受的生殖选择。为了保证合理的护理标准，必须在ePND/ePGD之前，之中和之后为候选夫妇提供有关所有可能情况的深入的非指导性咨询，并提供足够的专业和心理支持。

BACKGROUND & AIMS: BACKGROUND:To investigate the relationship between the levels of serum complement C1q and the risk and severity of acute ischemic stroke, a total of 154 patients with acute ischemic stroke and 42 healthy volunteers as normal controls were enrolled in the present study. METHODS:According to the onset time of stroke, patients were divided into three groups. Using an immune transmission turbidity method, the levels of serum complement C1q were detected to investigate the relationship between the level of serum complement C1q and the incidence and severity of acute ischemic stroke. The risk factors of these groups were calculated using a conditional logistic regression model. The assessment of neurological function impairment was carried out according to the National Institute of Health Stroke Scale. Then correlation anal- ysis was carried out between the level of serum complement C1q among patients with acute ischemic stroke and the degree of neurological function impairment. RESULTS:The results showed that the level of serum complement C1q was higher in the ischemic stroke group than in the control group. Using a conditional logistic regression model it was discovered that serum complement C1q was the independent pathogenic factor of cerebral infarction. There also was a decreasing trend in the level of serum complement C1q with the extension of the onset time and an increasing trend in the level of serum complement C1q with the increase in the maximum diameter of infarction volume. CONCLUSIONS:Serum complement C1q is an independent risk factor for acute outbreak of ischemic stroke, whose level is closely related to the outbreak and infarct size and neurological function impairment.

背景与目标：

BACKGROUND & AIMS: :Hereditary cancer due to pathological mutations in the mismatch repair gene family is now known as Lynch syndrome and affects at least 1 in 1,000 people, resulting in a 30-50% cancer risk most often involving the colorectum and endometrium. Annual or biennial colonoscopy reduces cancer deaths and many offer gynaecological surveillance, but most other associated cancers are not amenable to early detection. As microsatellite instability testing and tumour immunohistochemistry become routine, case finding will improve. Our recent demonstration that 600 mg aspirin per day for at least 2 years reduces the cancer burden by 63% after a 3-year lag period reinforces the need to identify gene carriers and introduce them to chemoprevention. CaPP3 will test different doses of aspirin in at least 3,000 gene carriers to determine whether low-dose aspirin is as effective.

背景与目标： : 由于错配修复基因家族的病理突变引起的遗传性癌症现在被称为Lynch综合征，至少1,000人中有1人受到影响，导致30-50% 的癌症风险最常涉及结直肠和子宫内膜。每年或两年一次的结肠镜检查可减少癌症死亡，并且许多提供妇科监测，但大多数其他相关癌症不适合早期发现。随着微卫星不稳定性测试和肿瘤免疫组织化学成为常规，病例发现将得到改善。我们最近的证明，每天600毫克阿司匹林持续至少2年，在3年的滞后期后，癌症负担减轻了63%，这加强了鉴定基因携带者并将其引入化学预防的必要性。CaPP3将在至少3,000基因携带者中测试不同剂量的阿司匹林，以确定低剂量阿司匹林是否同样有效。

BACKGROUND & AIMS: :Cyst infection is a diagnostic challenge in patients with autosomal dominant polycystic kidney disease (ADPKD) because of the lack of specific manifestations and limitations of conventional imaging procedures. Still, recent clinical observations and series have highlighted common criteria for this condition. Cyst infection is diagnosed if confirmed by cyst fluid analysis showing bacteria and neutrophils, and as a probable diagnosis if all four of the following criteria are concomitantly met: temperature of >38°C for >3 days, loin or liver tenderness, C-reactive protein plasma level of >5 mg/dL and no evidence for intracystic bleeding on computed tomography (CT). In addition, the elevation of serum carbohydrate antigen 19-9 (CA19-9) has been proposed as a biomarker for hepatic cyst infection. Positron-emission tomography after intravenous injection of 18-fluorodeoxyglucose, combined with CT, proved superior to radiological imaging techniques for the identification and localization of kidney and liver pyocyst. This review summarizes the attributes and limitations of these recent clinical, biological and imaging advances in the diagnosis of cyst infection in patients with ADPKD.

背景与目标： : 由于缺乏特定的表现和常规影像学检查的局限性，囊肿感染是常染色体显性遗传多囊肾病 (ADPKD) 患者的诊断挑战。尽管如此，最近的临床观察和系列研究还是突出了这种情况的通用标准。如果通过显示细菌和中性粒细胞的囊肿液分析证实，则诊断为囊肿感染，如果同时满足以下所有四个标准，则可能诊断为囊肿感染: 温度> 38 °C> 3天，腰肉或肝压痛，C反应蛋白血浆水平> 5 mg/dL，计算机断层扫描 (CT) 无囊内出血证据。此外，已经提出血清碳水化合物抗原19-9 (CA19-9) 的升高作为肝囊肿感染的生物标志物。静脉注射18-氟脱氧葡萄糖和CT后的正电子发射断层扫描在识别和定位肾脏和肝脏化脓性囊肿方面优于放射成像技术。本文总结了这些最新的临床，生物学和影像学进展在诊断ADPKD患者囊肿感染中的属性和局限性。

BACKGROUND & AIMS: :Early diagnosis of breast cancer is essential to save lives of patients. Usually, medical datasets include a large variety of data that can lead to confusion during diagnosis. The Knowledge Discovery on Database (KDD) process helps to improve efficiency. It requires elimination of inappropriate and repeated data from the dataset before final diagnosis. This can be done using any of the feature selection algorithms available in data mining. Feature selection is considered as a vital step to increase the classification accuracy. This paper proposes a Modified Bat Algorithm (MBA) for feature selection to eliminate irrelevant features from an original dataset. The Bat algorithm was modified using simple random sampling to select the random instances from the dataset. Ranking was with the global best features to recognize the predominant features available in the dataset. The selected features are used to train a Random Forest (RF) classification algorithm. The MBA feature selection algorithm enhanced the classification accuracy of RF in identifying the occurrence of breast cancer. The Wisconsin Diagnosis Breast Cancer Dataset (WDBC) was used for estimating the performance analysis of the proposed MBA feature selection algorithm. The proposed algorithm achieved better performance in terms of Kappa statistic, Mathew’s Correlation Coefficient, Precision, F-measure, Recall, Mean Absolute Error (MAE), Root Mean Square Error (RMSE), Relative Absolute Error (RAE) and Root Relative Squared Error (RRSE).

背景与目标：

BACKGROUND & AIMS: :The prevalence of renal diseases is rising and reaching 5-15% of the adult population. Renal damage is associated with disturbances of body homeostasis and the loss of equilibrium between exogenous and endogenous elements including drugs and metabolites. Studies indicate that renal diseases are influenced not only by environmental but also by genetic factors. In some cases the disease is caused by mutation in a single gene and at that time severity depends on the presence of one or two mutated alleles. In other cases, renal disease is associated with the presence of alteration within a gene or genes, but environmental factors are also necessary for the development of disease. Therefore, it seems that the analysis of genetic aspects should be a natural component of clinical and experimental studies. The goal of personalized medicine is to determine the right drug, for the right patient, at the right time. Whole-genome examinations may help to change the approach to the disease and the patient resulting in the creation of "personalized medicine" with new diagnostic and treatment strategies designed on the basis of genetic background of each individual. The identification of high-risk patients in pharmacogenomics analyses will help to avoid many unwarranted side effects while optimizing treatment efficacy for individual patients. Personalized therapies for kidney diseases are still at the preliminary stage mainly due to high costs of such analyses and the complex nature of human genome. This review will focus on several areas of interest: renal disease pathogenesis, diagnosis, treatment, rate of progression and the prediction of prognosis.

背景与目标： : 肾脏疾病的患病率正在上升，并达到成年人口的5-15%。肾脏损害与机体稳态紊乱以及外源性和内源性元素 (包括药物和代谢物) 之间平衡的丧失有关。研究表明，肾脏疾病不仅受环境影响，还受遗传因素影响。在某些情况下，该疾病是由单个基因突变引起的，当时的严重程度取决于一个或两个突变等位基因的存在。在其他情况下，肾脏疾病与一个或多个基因内的改变有关，但环境因素也是疾病发展所必需的。因此，似乎遗传方面的分析应该是临床和实验研究的自然组成部分。个性化医疗的目标是在正确的时间为正确的患者确定正确的药物。全基因组检查可能有助于改变疾病和患者的治疗方法，从而创建具有基于每个个体遗传背景设计的新诊断和治疗策略的 “个性化医学”。在药物基因组学分析中识别高危患者将有助于避免许多不必要的副作用，同时优化单个患者的治疗效果。肾脏疾病的个性化治疗仍处于初步阶段，这主要是由于此类分析的高昂成本和人类基因组的复杂性。这篇综述将集中在几个感兴趣的领域: 肾脏疾病的发病机制，诊断，治疗，进展率和预后预测。

BACKGROUND & AIMS: :Microsporida are protozoan parasites that have recently been identified as a cause of human disease in immunocompromised patients. Because of their small size, they have been recognized primarily by electron microscopy. This has limited the study of their prevalence, incidence, and association with large-volume diarrhea. The present report describes two cases of Enterocytozoon bieneusi infection of the small intestine in patients with intractable diarrhea in whom the diagnosis was made by light microscopy and confirmed by electron microscopy. Both patients were treated with octreotide, and one had a good response.

背景与目标： : 微孢子虫是原虫寄生虫，最近被确定为免疫功能低下患者的人类疾病原因。由于它们的体积小，它们主要被电子显微镜识别。这限制了对其患病率，发病率以及与大量腹泻的相关性的研究。本报告描述了难治性腹泻患者中两例小肠肠溶虫感染的病例，其中通过光学显微镜诊断并通过电子显微镜确认。两名患者均接受奥曲肽治疗，其中一名患者反应良好。

BACKGROUND & AIMS: :According to the World Health Organization classification of pituitary tumors, only tumors with systemic metastasis must be considered as carcinomas. Invasive tumors with multiple recurrences are only classified as aggressive tumors or "atypical adenomas". To illustrate the problems encountered in the pathological diagnosis of pituitary carcinoma and in patient management, we present two male patients operated on for an aggressive prolactin pituitary adenoma with and without metastasis. In case 1, 5 surgeries, 3 irradiations, increased doses of dopamine agonists, and trials of temozolomide and carboplatine-VP16 failed to control tumor progression and the appearance of metastases which lead to death 16 years after onset. In case 2, based on the initial diagnosis of an aggressive-invasive adenoma that was resistant to dopamine agonists, gamma-Knife irradiation was initially performed on the intra-cavernous remnant. Eight years after onset, the remnant remained stabilized and the plasma PRL normalized under dopamine agonist. From these 2 cases alongside other cases found in the literature, we propose that the association of certain clinical signs (male sex, dopamine-resistant hyperprolactinemia), radiological signs (invasive macro or giant tumor on MRI) and histological signs (angiogenesis, Ki-67 > 3%, p53 positive, mitoses >2 per high power field, vascular invasion, up-regulation of genes related to invasion and proliferation, and allelic loss of chromosome 11) might suggest aggressiveness and be suspicious of malignancy before the appearance of metastasis. The early detection of an aggressive phenotype of a prolactin pituitary tumor should permit the earlier establishment of the optimum therapeutic strategy associating surgery and radiotherapy to delay or inhibit metastasis.

背景与目标： : 根据世界卫生组织对垂体瘤的分类，只有具有全身转移的肿瘤才必须考虑为癌。多次复发的浸润性肿瘤仅被归类为侵袭性肿瘤或 “非典型腺瘤”。为了说明在垂体癌的病理诊断和患者管理中遇到的问题，我们介绍了两名因侵袭性催乳素垂体腺瘤而手术的男性患者，无论是否有转移。在病例1中，5次手术，3次照射，增加多巴胺激动剂的剂量以及替莫唑胺和carboplatine-VP16的试验未能控制肿瘤的进展和转移的出现，导致发病后16年死亡。在病例2中，基于对多巴胺激动剂具有抗性的侵袭性腺瘤的初步诊断，最初对海绵体内残留物进行伽玛刀照射。发病八年后，残余物保持稳定，血浆PRL在多巴胺激动剂下正常化。从这2例病例以及文献中发现的其他病例中，我们提出某些临床体征 (男性，多巴胺抗性高催乳素血症)，放射学体征 (MRI上的侵袭性大肿瘤或巨瘤) 和组织学体征 (血管生成，Ki-67> 3%，p53阳性，每个高功率场的有丝分裂> 2，血管浸润，与侵袭和增殖相关的基因上调以及11号染色体的等位基因丢失可能提示侵袭性，并在转移出现之前怀疑恶性肿瘤。早期发现催乳素垂体瘤的侵袭性表型应允许较早建立结合手术和放疗以延迟或抑制转移的最佳治疗策略。

BACKGROUND & AIMS: -2

背景与目标： -2