BACKGROUND & AIMS: OBJECTIVE:To compare the relative sensitivity of direct microscopy, fungal culture and nail plate biopsy in the diagnosis of onychomycosis. DESIGN:Cross-sectional study. PLACE AND DURATION OF STUDY:The Skin Department, Military Hospital, Rawalpindi from February 1998 to February 1999. PATIENTS AND METHODS:A total of 50 patients who were suffering from different clinical variants of onychomycosis, irrespective of their age, gender, with or without simultaneous presence of systemic diseases, were subjected to laboratory investigations including direct microscopy with 20% potassium hydroxide (KOH) for fungal hyphae, fungal cultures and nail plate biopsies. These patients were later categorized into two groups based upon the results of nail plate biopsies. RESULTS:Of 50 patients, 15 (30%) were positive for fungal elements in direct microscopy, 8 (16%) were positive for fungal culture and 16 (32%) revealed positive results in nail plate biopsies. Amongst nail plate biopsy positive cases, 10 (63%) were positive for direct microscopy and 6 (37.5%) were positive for fungal cultures. In biopsy negative cases, positive results for direct microscopy were seen in 5 (14.7%) patients and positive fungal culture was found in 2 (5.88%) patients. CONCLUSION:The clinical impression of onychomycosis is not true in all the cases. Nail scraping for direct microscopy with 20% KOH should be the first line screening test for all patients which should then be supplemented with fungal culture and/ or nail plate biopsy.

背景与目标：

BACKGROUND & AIMS: :Molecular biology techniques are applied for the diagnosis of meningoencephalitis due to herpesviruses, enteroviruses or polyomaviruses, for the diagnosis of human cytomegalovirus, human parvovirus B19, varicella-zoster virus and rubella virus infections occurring during pregnancy, for the diagnosis and the management of retrovirus infections (HIV and HTLV) and of hepatitis (HBV and HCV), for papillomavirus typing and to detect a link between virus and clinical manifestations (cardiomyopathy or insulinodependent diabetes with coxsackievirus B: Kaposi's sarcoma with HHV 8) or to investigate an environmental contamination with viruses. These new molecular markers which are both qualitative and quantitative represent an important advance in the field of viral diagnosis research, in the monitoring of viral load during the course of infection, in the therapy control of viral disease and in the epidemiology of virus spread. Standardization and automatization are obtained using available commercial reagents and kits.

背景与目标： : 分子生物学技术用于诊断由疱疹病毒，肠病毒或多瘤病毒引起的脑膜脑炎，用于诊断人巨细胞病毒病毒，人细小病毒B19，水痘病毒病毒和怀孕期间发生的风疹病毒病毒，用于诊断和管理复古病毒感染 (HIV和HTLV) 和肝炎 (HBV和HCV)，乳头瘤病毒分型，并检测病毒与临床表现 (心肌病或胰岛素依赖型糖尿病与柯萨奇病毒B: 卡波西氏肉瘤与HHV 8) 或调查病毒es的环境污染。这些定性和定量的新分子标记物代表了病毒诊断研究领域，感染过程中病毒载量的监测，病毒性疾病的治疗控制以及病毒传播流行病学领域的重要进展。使用可用的商业试剂和试剂盒可获得标准化和自动化。

BACKGROUND & AIMS: -2

背景与目标： -2

BACKGROUND & AIMS: OBJECTIVES:This prospective study was designed to assess the sensitivity and specificity of Doppler ultrasound parameters in the diagnosis of cirrhosis and portal hypertension. METHODS:Portal and hepatic arterial Doppler ultrasound was performed on 76 patients with cirrhosis and esophageal varices and on 73 age- and sex-matched controls. The parameters evaluated were portal venous velocity and hepatic arterial pulsatility index. The liver vascular index was calculated as the ratio of portal venous velocity to hepatic arterial pulsatility index. RESULTS:Portal venous velocity was significantly lower (11.0 +/- 2.4 vs 15.9 +/- 2.8 cm/s, p < 0.001) and hepatic arterial pulsatility index was significantly higher (1.28 +/- 0.18 vs 0.95 +/- 0.17,p < 0.001) in patients than in controls. Thus, the liver vascular index was significantly lower in patients than in controls (8.7 +/- 2.1 vs 17.2 +/- 4.3 cm/s, p < 0.001). The sensitivity and specificity of these parameters in the detection of cirrhosis and portal hypertension was then analyzed with the receiver operating characteristic curve. The best cut-off values were considered to be 13 cm/se of portal venous velocity and 1.1 of hepatic arterial pulsatility index, showing a sensitivity and specificity of 83, 85, 84, and 81%, respectively. The best cut-off value of the liver vascular index was 12 cm/s with a sensitivity and specificity of 97 and 93%, respectively. CONCLUSIONS:The liver vascular index is a high sensitive and specific Doppler ultrasound parameter in the diagnosis of cirrhosis and portal hypertension.

背景与目标：

BACKGROUND & AIMS: :Systemic lupus erythematosus (SLE) is an autoimmune disease that usually develops in young women aged 18-50 years and is characterized by the presence of autoantibodies. Diagnosis is difficult as SLE is a great imitator of other diseases. When SLE is suspected clinically in a patient (involvement of two or more organ systems), an initial laboratory evaluation would be antinuclear antibody (ANA) testing. If ANA is negative, SLE is unlikely and results positive at less than 1:40 strongly argue against SLE. Other explanations for organ system involvement should be pursued. Results positive at greater than 1:40 may merit further evaluation for SLE and at times referral to a rheumatologist for a full SLE evaluation. While the American College of Rheumatology classification criteria for SLE are primarily a tool for research, they may be useful clinically, in that those patients fulfilling four or more criteria are highly likely to have SLE.

背景与目标： : 系统性红斑狼疮 (SLE) 是一种自身免疫性疾病，通常发生在18-50岁的年轻女性中，其特征是存在自身抗体。SLE是其他疾病的重要模仿者，因此诊断困难。当临床上怀疑SLE患者 (涉及两个或多个器官系统) 时，最初的实验室评估将是抗核抗体 (ANA) 测试。如果ANA为阴性，则SLE不太可能，并且在不到1:40的时间内结果为阳性，强烈反对SLE。应寻求其他有关器官系统参与的解释。大于1:40阳性的结果可能需要进一步评估SLE，有时需要转介给风湿病专家进行全面的SLE评估。虽然美国风湿病学会的SLE分类标准主要是研究的工具，但它们可能在临床上有用，因为符合四个或更多标准的患者极有可能患有SLE。

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。