Flow cytometric diagnosis of myelodysplasia and myeloproliferative disorders

The current diagnosis of both myelodysplastic syndromes and myeloproliferative disorders relies in large part on subtle and subjective morphologic findings and the presence of cytogenetic abnormalities. Consequently, diagnosis of these disorders is often difficult and tentative with diagnosis at early stages representing a particular challenge. There is a need for new diagnostic techniques to allow a more definitive and objective diagnosis for these diseases. The published literature relating to the potential diagnostic utility of flow cytometric immunophenotyping in the diagnosis of myelodysplastic syndromes and myeloproliferative disorders is reviewed, and the increasingly important contribution of this technique to the diagnosis of these disorders emphasized.     

临床诊断书写规范化方法研究

目的 规范临床诊断书写,为DRGs付费制度的实施做准备。方法 建立临床诊断字典,临床医师通过电子病历系统从临床诊断字典中选择诊断名称。结果 95%以上的临床诊断名称均来自临床诊断名称字典,保证了临床诊断名称的规范性,同时能够直接与ICD10编码对应。结论 建立临床诊断字典能够规范临床诊断的书写,同时为提高临床诊断编码的准确性奠定了基础。     

CT及MRI在直肠癌诊断和分期的应用价值研究

目的:探究在直肠癌的诊断以及分期方面,CT与MRI技术的应用价值。方法:选取我院近年来经过病理检测,确诊为直肠癌的患者160例,随机分为两个实验组,其中一组采取CT成像方法,另一组患者采取MRI成像。并记录在不同的分期中CT及MRI的应用价值。CT诊断包含了常规CT平扫以及CT增强扫描,MRI诊断包括轴位DWI、T2W1冠状位以及矢状位、轴位T1WI、轴位T2WI的图像。结果:在直肠癌的诊断中,CT诊断的T分期与病理性T分期差异不大,其准确率为70.0%。MRI诊断的T分期和病理性T分期差异极小,其准确率为85.0%。CT诊断的N分期与病理性N分期差异不大,准确率为72.5%;MRI诊断的N分期与病理性N分期差异较小,其准确率为87.5%。CT诊断的T分期以及N分期的准确率与MRI诊断的T分期以及N分期的准确率之间差异均存在统计学意义(P0.05)。结论:在直肠癌的术前诊断以及局部分期中,MRI诊断与CT诊断相比,有更高的诊断价值。     

Domestic microwave processing for rapid immunohistochemical diagnosis of bovine rabies

The present study describes the use of a microwave processing protocol for the rapid histopathological and immunohistochemical diagnosis of bovine rabies. Immunohistochemistry has been used for rabies diagnosis in formalin-fixed tissue with satisfactory results, although the time to diagnosis is considerably longer than that with direct immunofluorescence. The protocol provided a provisory histopathological rabies diagnosis in approximately three and half hours and the immunohistochemical diagnosis was available after six hours. The protocol achieved 100% correlation with direct immunofluorescence and is a promising method, particularly in situations in which only material in formalin is available for diagnosis or when the refrigeration or transportation of biological material is difficult.     

The clinical history and costs associated with delayed diagnosis of bipolar disorder

The purpose of this reported study was to determine healthcare utilization and costs associated with delayed diagnosis of bipolar disorder. With use of automated data from a large integrated health system in the Midwest, all patients with newly diagnosed bipolar disorder recorded in any inpatient or outpatient encounter from January 1, 2000 to August 31, 2002 were identified. The date of initial diagnosis was the index date. For each patient in the bipolar cohort, 5 comparison patients were randomly selected from the general population of health system members and matched with the bipolar patients by sex, race, and age (-/+ 5 years). Data on healthcare utilization (inpatient, outpatient, emergency department, pharmacy) were collected with a focus on mental health, from January 1, 1990, through 1 year after the index date. The cohort is 62% female and 64% White. Median time between initial mental health diagnosis and bipolar diagnosis was 21 months, with 33% of subjects receiving a bipolar diagnosis within 6 months of their initial mental health diagnosis; however, for 31% of the remaining bipolar subjects, the time of their initial mental health presentation to bipolar diagnosis was 4 years or more. The number and duration of treatment with antidepressants increased as time to bipolar diagnosis increased. Patients with bipolar disorder had at least twice the number of interactions with the healthcare system before the index date than the non-bipolar comparison group. Mean monthly costs before and after bipolar diagnosis were not strikingly different for patients with bipolar disorder, but costs after bipolar diagnosis increased with increasing time to bipolar diagnosis. Bipolar disorder is a costly illness for which the impact on the healthcare system may vary depending on how quickly it is diagnosed. Delays in diagnosis appear related to additional costs after diagnosis.     

Reliability of telepathology for frozen section service.

One of the most promising applications of telepathology (pathology at a distance by electronic transmission of images in pathology) is frozen section diagnosis, especially because by means of this tool operations requiring an intraoperative histopathological diagnosis are feasible at hospitals without a pathologist on-site. For the introduction of this diagnostic tool into pathologist's daily practice the evidence of its diagnostic accuracy comparable to that of the conventional frozen section diagnosis is crucial. For this purpose the literature on the diagnostic accuracy of telepathological frozen section diagnosis was reviewed. In a metaanalysis these studies and reports, in which a total of more than 1290 cases had been examined, showed a slightly lower overall diagnostic accuracy (of the telepathological frozen section diagnosis) of about 0.91 than the conventional frozen section diagnosis with an average accuracy of about 0.98 found in an analysis of several studies (on frozen section diagnosis of different organs). This difference is at least predominantly caused by a higher rate of deferred and false negative frozen section diagnoses in the telepathological method, while the specificity of both methods, each more than 0.99 was not significantly different. In conclusion, the introduction of a telepathological frozen section diagnosis for hospitals without an acceptable access to a pathologist is justifiable already at the current state of the technological development especially when considering the advantages (time saving, reduction in costs) compared to the alternative of surgical interventions without access to an intraoperative diagnosis.     

Interpreting microbiopsies in cervical smears. A cytohistologic approach

OBJECTIVE: To assess interobserver variation in the diagnosis of thick tissue specimens (microbiopsies) in cytology smears and histologic sections taken from them, to evaluate the applicability of MIB-1 in histologic sections from microbiopsies and to evaluate whether processing microbiopsies in inconclusive smears has additional diagnostic value. STUDY DESIGN: Cytologic smears were selected in which there were diagnostic disagreements between pathologists and cytologists and microbiopsies were present. Interobserver variation among three pathologists and three cytologists in the diagnosis of these microbiopsies was investigated. The smears were processed for histologic sections, and interobserver variation between pathologist diagnoses were analyzed. An additional histologic slide stained for MIB-1 was used for consensus diagnosis. The consensus diagnosis was compared with available follow-up and its sensitivity and specificity determined. The value of applying the microbiopsy technique in slides diagnosed as inadequate or atypical squamous cells of undetermined significance (ASCUS) was analysed. RESULTS: From a series of 62,334 cervical smears, 49 with microbiopsies were selected. It was possible to derive histologic slides from 38 cases. Interobserver variability in the diagnosis of microbiopsies and histologic sections from them was moderate--kappa = .44 (SE = .06) and kappa = .44 (SE = .09), respectively. In the consensus meeting for all cases, a conclusive diagnosis was reached. The Pearson correlation coefficient between the consensus diagnosis and MIB-1 staining was r = .62. The sensitivity of the consensus diagnosis for the follow-up diagnosis was 71% and the specificity 60%. Diagnosis on approximately 50% of slides diagnosed as inadequate or ASCUS could be made. CONCLUSION: The histotechnical workup of microbiopsies is not difficult; however, their diagnosis can be a problem. Adequate diagnostic criteria are not available. Aided by MIB-1 staining, histologic sections from microbiopsies can be diagnosed, and the diagnoses correlated with follow-up in most cases. Processing of microbiopsies in smears with an inconclusive cytologic diagnosis or a diagnosis of ASCUS allowed correct diagnosis in 50% of cases in this study.     

Hybrid methods for automated diagnosis of breast tumors

OBJECTIVE: To design and analyze a new family of hybrid methods for the diagnosis of breast tumors using fine needle aspirates. STUDY DESIGN: We present a radically new approach to the design of diagnosis systems. In the new approach, a nonlinear classifier with high sensitivity but low specificity is hybridized with a linear classifier having low sensitivity but high specificity. Data from the Wisconsin Breast Cancer Database are used to evaluate, computationally, the performance of the hybrid classifiers. RESULTS: The diagnosis scheme obtained by hybridizing the nonlinear classifier ellipsoidal multisurface method (EMSM) with the linear classifier proximal support vector machine (PSVM) was found to have a mean sensitivity of 97.36% and a mean specificity of 95.14% and was found to yield a 2.44% improvement in the reliability of positive diagnosis over that of EMSM at the expense of 0.4% degradation in the reliability of negative diagnosis, again compared to EMSM. At the 95% confidence level we can trust the hybrid method to be 96.19-98.53% correct in its malignant diagnosis of new tumors and 93.57-96.71% correct in its benign diagnosis. CONCLUSION: Hybrid diagnosis schemes represent a significant paradigm shift and provide a promising new technique to improve the specificity of nonlinear classifiers without seriously affecting the high sensitivity of nonlinear classifiers.     

Computer diagnosis of skin disease: System design and preliminary results

A system for computer-assisted diagnosis of dermatological disease is described. This is an ‘expert system’ whose knowledge base has been prepared with the aid of a dermatological specialist. The user enters the key elements of the patient's disease history and physical examination into the computer. The computer then returns a summary of the patient's medical record, and a differential diagnosis. The rules of operation by which a given diagnosis was included or rejected is accessible to the user. The system is currently being evaluated in a large dermatology clinic. Preliminary evaluation of the accuracy of diagnosis by the computer indicates that while it nearly always includes the correct diagnosis in its differential diagnosis (94% of cases), it frequently also includes diseases thought to be inappropriate (34% of diseases listed).     

Cancer during adolescence: negative and positive consequences reported three and four years after diagnosis

Persons diagnosed with cancer during adolescence have reported negative and positive cancer-related consequences two years after diagnosis. The overall aim was to longitudinally describe negative and positive cancer-related consequences reported by the same persons three and four years after diagnosis. A secondary aim was to explore whether reports of using vs. not using certain coping strategies shortly after diagnosis are related to reporting or not reporting certain consequences four years after diagnosis. Thirty-two participants answered questions about coping strategies shortly after diagnosis and negative and positive consequences three and four years after diagnosis. Answers about consequences were analysed with content analysis, potential relations between coping strategies and consequences were analysed by Fisher's exact test. The great majority reported negative and positive consequences three and four years after diagnosis and the findings indicate stability over time with regard to perceived consequences during the extended phase of survival. Findings reveal a potential relation between seeking information shortly after diagnosis and reporting a more positive view of life four years after diagnosis and not using fighting spirit shortly after diagnosis and not reporting good self-esteem and good relations four years after diagnosis. It is concluded that concomitant negative and positive cancer-related consequences appear stable over time in the extended phase of survival and that dialectical forces of negative and positive as well as distress and growth often go hand-in-hand after a trauma such as cancer during adolescence.     

Diagnosis of Tuberculosis in a General Hospital

In a survey of 71 new cases of tuberculosis diagnosed in a general hospital the average interval between admission and diagnosis of tuberculosis (the diagnostic interval) ranged between 10 days for intrathoracic tuberculosis and 20 days for genitourinary tuberculosis. The average diagnostic interval was 10·9 days when tuberculosis was included in the initial differential diagnosis, and 22·8 days when other diagnoses were made. Undue delay in diagnosis occurred in 17 patients (24%). In eight this was due to failure to include tuberculosis in the initial differential diagnosis. Earlier diagnosis might have saved three of the five patients who died.In 21 patients (30%) a history of predisposing factors or associated illness was obtained. Ten of these had suffered from previous tuberculosis.The vital factor in diagnosis of tuberculosis in general hospital patients is consideration of this condition in the diagnosis of any unexplained illness, especially where a history of previous tuberculosis or a recognized predisposing factor is obtained.     

结核分枝杆菌蛋白抗原的研究进展

结核病当今世界人类致死的主要疾病之一,早期诊断发现病人、选择敏感的抗结核药物进行有效治疗是控制结核病的关键。而临床上对结核病患者检出率低,漏诊率和误诊率高,结果导致结核耐药的情况越来越严重。简便、快速、准确的免疫学检测方法在诊断结核病中起到了重要的作用。本文对用于免疫学检测的蛋白抗原作一综述。     

CT和MRI在宫颈癌分期诊断中的临床对比分析

目的：比较CT和MRI在宫颈癌分期诊断中的临床应用价值。方法：回顾性分析宫颈癌患者96例,上述患者均有完整临床资料及术前CT和MRI检查结果,根据术后病理检查结果,比较两种检查方法影像学诊断、侵犯宫颈旁组织、侵犯子宫体、侵犯阴道、淋巴结转移的术前检查结果与病理诊断的符合率。结果：两种检查方法在宫颈癌Ⅰb期、Ⅱa期和Ⅱb期诊断符合率比较差异具有高度统计学意义（P〈0．01）;宫颈癌Ⅲa期和Ⅲb期符合率比较,差异具有统计学意义（P〈0．05）;宫颈癌Ⅳ期符合率比较,差异无统计学意义（P〉O．05）;检查提示侵犯宫颈旁组织、侵犯子宫体与侵犯阴道与术后病理诊断符合率比较,差异具有统计学意义（P〈0．05）。结论：对于宫颈癌患者,术前应积极采取MRI检查方式,可提高诊断符合率,有利于对患者术后治疗的开展和预后的判断。     

Preimplantation genetic diagnosis: applications for molecular medicine.

Preimplantation genetic diagnosis is an alternative to prenatal diagnosis for the detection of genetic disorders. Tests are conducted on single cells biopsied from embryos before they are implanted, allowing the selection of unaffected embryos before a pregnancy has been established. Thus, the issue of pregnancy termination is circumvented. The use of preimplantation genetic diagnosis might have a significant impact on in vitro fertilization success rates as well as allowing the diagnosis of inherited disease.     

ERCP-Guided Percutaneous Fine-Needle Pancreatic Biopsy

In patients with a radiologic diagnosis of unresectable pancreatic carcinoma, exploratory laparotomy for tissue diagnosis is no longer required. Histologic confirmation of the diagnosis may be obtained safely and accurately with percutaneous fine-needle aspiration biopsy. Endoscopic retrograde cholangiopancreatography (ERCP) precisely localized the biopsy site for cytologic diagnosis of adenocarcinoma in 13 of 14 patients (93 percent) with pancreatic carcinoma.     

植入前遗传学诊断的原理、方法及适应症

植入前遗传学诊断是一种非常早的产前诊断,指在胚胎着床之前即对配子或胚胎的遗传物质进行分析,检测配子或胚胎是否有遗传物质异常,选择正常胚胎进行移植。与传统的产前诊断相比,能避免选择性流产异常妊娠给妇女带来的心身痛苦。本文就该领域的发展及现状和其诊断原理、方法及适应症进行了总结和综述。 Abstract:Preimplatation genetic diagnosis (PGD) is a very early form of prenatal diagnosis.Gametes or embryos are biopsied and a genetic diagnosis is carried out on the biopsied cells to investigate if the gametes or embryos is free of genetic disease.And the normal embryos is transferred to the mother.Comparing to the traditional prenatal diagnosis,PGD is a method that can avoid aborting a abnormal pregnant and reduce pains of women.In this review,we introduce the history of development and statues in quo,principle,method and application of PGD.     

Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy.

The present report concerns two patients, male and female siblings, manifesting a different degree of severity for the same autosomal recessive limb-girdle muscular dystrophy. The index case (male sib) carried the clinical diagnosis of Becker muscular dystrophy at the time when the sister, with a much milder presentation, first sought counseling and prenatal diagnosis for a pregnancy already in course. Molecular and immunocytochemical tests then available favoured the diagnosis of an autosomal recessive myopathy, but did not enable exclusion of a dystrophinopathy The couple was counseled accordingly, although prenatal diagnosis could not be offered. Both patients were later found to carry one gamma- and two alpha-sarcoglycan gene mutations, one of the latter being new This raised a counseling dilemma: depending on which combination was the disease-causing genotype, there would be a minimal or a significant 25% risk to offspring. We describe the studies carried out and emphasise the importance of differential diagnosis and extensive molecular characterisation in this group of disorders, so as to enable correct genetic counseling and prenatal diagnosis.     

The Role of Principal and Secondary Diagnoses of Hospitalized Eye Trauma: A Nationwide Cohort in Taiwan, 1996-2010

Purpose

To estimate the rate of hospitalized eye trauma in Taiwan and investigate the role between principal and secondary diagnoses of such trauma.

Methods

Nationwide fixed cohort study of 1,000,000 beneficiaries from the Taiwan Longitudinal Health Database was used and 4819 patients who were hospitalized for eye trauma during 1996-2010 were analyzed.

Results

During 1996-2010, the incidence rates of hospitalized eye trauma (per 100 000 person-years) were 35.0 (95% confidence interval (CI), 34.0 to 36.0) for total diagnosis, 9.8 (95% CI, 9.3 to 10.3) for a principal diagnosis, and 25.3 (95% CI, 24.4 to 26.1) for a secondary diagnosis. The sex risk ratio was 3.1 for a principal diagnosis and 2.1 for a secondary diagnosis. The main causes of eye trauma were traffic accident, work accident, assault (among males <60 years of age), and falls (among elderly men and women). The proportion admitted to an ophthalmic department among those with a principal diagnosis of eye trauma (64.8%) was significantly higher than among those with a secondary diagnosis (2.3%) (p<.0001). Patients with a principal diagnosis of eye trauma had shorter hospital stays (7.1±10.2 days) and lower fatality (0.07%) than those with a secondary diagnosis of eye trauma (10.0±31.6 days and 0.3%, respectively).

Conclusion

Data only from ophthalmic admissions tends to underestimate the true incidence rate of hospitalized eye trauma. Patients with a principal diagnosis of eye trauma had less severe injuries than did those with a secondary diagnosis.     

乳腺MRI 与乳腺X线在导管原位癌临床诊断中应用的比较研究

目的:探讨乳腺MRI与乳腺X线检查在导管原位癌(DCIS)诊断中的应用价值。方法:选择2012年5月至2014年9月在我院接受诊治的乳腺DCIS患者52例(58个病灶)为研究对象,对所有患者进行乳腺MRI及X线检查,以病理检查结果作为金标准,比较乳腺MRI及X线检查在导管原位癌(DCIS)诊断中的应用价值。结果:58个病灶中,乳腺MRI共检查出阳性54例,阴性4例,其中误诊或漏诊4例;乳腺X线共检查出阳性49例,阴性9例,其中误诊或漏诊11例。乳腺MRI检查的灵敏度和准确度均显著高于乳腺X线,差异有统计学意义(P0.05)。此外,乳腺MRI检查的特异度、阳性预测值及阴性预测值均分别高于乳腺X线,但差异无统计学意义(P0.05)。结论:乳腺MRI检查对DCIS的诊断价值较高,具有广泛的应用前景,但亦存在少数误诊或漏诊。