盆腔囊实性混合肿物在三维超声成像中的应用

目的比较三维超声成像在附件囊实性混合肿块中的诊断价值。方法回顾性分析108例附件区囊实性混合肿块二维、三维超声检查资料，并与二维超声图像对比。结果三维超声诊断与手术病理对照诊断符合率（95．4％）明显高于二维超声与手术病理对照诊断符合率（76．8％），（P〈0．05），有统计学意义。结论三维超声成像技术术前可以明确诊断、提高诊断符合率以及为临床制订治疗方案提供重要帮助。     

分子生物学技术在检验医学中的应用

分子生物学中的分子生物传感器技术、分子生物芯片技术、分子生物纳米技术和分子蛋白组学在医学检验中的应用,使针对患者的临床治疗更为合理和快速,这将对检验医学的发展起到重要作用。就分子生物学技术在检验医学中的应用做以综述,为检验医学提供帮助。     

Rapid tracing of new patients with cancer through the nationwide network and registry of histo- and cytopathology in the Netherlands (PALGA) in order to freeze tumour material for molecular-epidemiological research

OBJECTIVE: To examine the viability of tracing new patients with a malignancy preoperatively through the Nationwide Network And Registry Of Histo- and Cytopathology in the Netherlands (PALGA) in order to obtain fresh-frozen tumour tissue for molecular-epidemiological research. DESIGN: Prospective. METHOD: Gene expression analysis using the microarray technique has become an important tool in cancer research. To use this technique, however, it is necessary to have fresh-frozen tumour tissue. This study examines if a weekly search in the PALGA registration makes it possible to trace patients before they undergo tumour surgery and to ask the treating physician to reserve some tumour material to be frozen. In this case it was for the benefit of the 'tamoxifen-associated malignancies: aspects of risk' (TAMARISK)-study in which the clinical-pathological and molecular characteristics of malignancies of the uterine corpus following the use of tamoxifen were examined. Results. From July 2003 to October 2004 133 patients eligible for inclusion in the TAMARISK study were indicated by PALGA. Ultimately freshfrozen tissue from a uterine tumour was obtained for 83 of the 133 patients. For the majority of the patients that could not be included the information came too late or there was no certain histopathological diagnosis prior to the hysterectomy. CONCLUSION: The system developed through PALGA turned out to be very effective in practice and can also be of great value to other clinical epidemiological studies that involve molecular analyses of patients with relatively rare diseases.     

睾丸生殖细胞瘤临床特点及诊治分析：附45例报告

目的 探讨睾丸生殖细胞瘤的诊断及治疗.方法 回顾性分析45例经手术病理证实为原发睾丸生殖细胞瘤患者的临床资料.结果 45例均行手术治疗,术后病理检查示精原细胞瘤28例,畸胎瘤3例,胚胎癌2例,绒毛膜上皮癌2例,混合性生殖细胞瘤4例,卵黄囊瘤5例,精母细胞型精原细胞瘤1例.根据术后病理结果选择相应放化疗方案.术后随访3个月至5年,11例失访,34例获得随访,精原细胞瘤25例,非精原细胞瘤9例,死亡5例.结论 怀疑睾丸病变者早期手术治疗及辅助行放化疗是提高临床治愈的关键.     

基层医院病理科的现状分析与对策的探讨

病理诊断是所有诊断手段中的核心,为临床诊断、手术范围、治疗方法及预后判断等提供最重要的依据,在临床医疗中起不可替代的作用。结合国内病理科的现状进行分析,找出病理科在日常工作中要努力防范医疗纠纷的问题进行探索。     

Genetic alterations in hematological neoplasias of lymphoid origin: implications for clinical practice

The improvement of the conventional cytogenetic techniques, the development of molecular cytogenetics and the application of techniques of molecular biology to genetic analysis have led to an authentic revolution in the knowledge of the processes implied in the development and progression of lymphoid neoplasias. In this way, a great part of the alterations present in malign cells have been characterised, and the genes involved in the transformative process have been established. This has important consequences for the clinical handling of this type of disease and makes possible a more exact diagnosis through a systematisation of the different entities based on their biological characteristics. On the other hand, the introduction of new techniques of analysis, such as real time PCR, will make it possible to monitor the disease quantitatively, making it possible to evaluate response to the different treatments and to establish predictive values for relapses. In the future, all of this knowledge will make it possible to establish genotype-specific therapies and to develop new medicines aimed at the alteration responsible for the malignant process and with less undesired collateral effects.     

Vomiting as a first neurological sign of brain tumors in children

Four children (two boys aged 1.5 and 10 years and two girls aged 2 and 9 years) vomited for one-half to four weeks. In one child, ataxia was later also noted and another tilted his head constantly to the left, but this was initially not alarming. In all four cases CT revealed a brain tumour, for which they were operated. Postoperatively, one child had residual tumour tissue that caused no further problems, in two children the tumour was completely excised with no further symptoms and no recurrence in the following 2 years, and in one child complete excision was not possible so that chemotherapy and radiotherapy were given, but metastases nevertheless developed 10 months later and the child died. Vomiting is common in children and in most cases the result of infectious or gastrointestinal causes. Intracranial pathology also can cause vomiting, both by increased intracranial pressure and by direct stimulation of the vomiting centre in the brainstem. Brain tumours in children often lack specific neurological signs in their clinical presentation. Intractable or chronic vomiting without nausea or deregulation of the water and electrolyte balance could therefore indicate the presence of an intracranial process, even when other neurological signs are absent.     

Ear Pathology: Its Role in Hearing Impairment

In a steelworks study of manual employees aged 55–64 years,31 (20 per cent) of the 152 men had a history of ear pathology(disease or injury, other than noise-induced). The median hearinglevel (mean readings , 1 and 2 kHz, right ear) of those withear pathology was 28·2 dB and for men without a historyof pathology 20·3 dB. These data, taken in conjunctionwith Robinson's figures, suggest that the average man of 60years of age with ear pathology will have his hearing as muchor more impaired by this pathological process as by 40 yearsof full-time employment, without ear protection, at a soundlevel of 97 dB(A). In 331 men aged 45–54 years, pathologyagain played an important part in hearing loss, with a medianhearing level 6·7 dB greater than the median for thosewithout pathology. The proportion of men with mild or marked impairment (AmericanAcademy of Ophthalmology and Otolaryngology (AAOO) criteria)was 6 times greater in the group with a history of ear pathologythan in those free of pathology. Some aspects of audiometric policies in industry are discussed.The need for further discussion is emphasized; this discussionshould precede any governmental policy for industry in general. Requests for reprints should be addressed to: R. W. Howell, The British Steel Corporation, 160 Euston Road, London, N.W.I.     

Worse prognosis for older breast cancer patients

- The prognosis for older post-menopausal breast cancer patients is worse than for younger post-menopausal patients.- This applies to the relatively healthy patients taking part in randomized clinical studies, but is also the case for older breast cancer patients in the general population.- The worse prognosis may be explained by inadequate treatment, and possibly also by age-specific tumour and patient characteristics.- As older patients are rarely included in randomized trials, it is still insufficiently clear what constitutes adequate treatment for them.- It is therefore important to include more elderly patients in clinical studies into the effectiveness of breast cancer therapy.- An important aim is to allow correct assessment of which patients will die with, and which patients will die from breast cancer, so that treatment can be adjusted accordingly.     

Islet cell tumours: surgical treatment

The majority of neuroendocrine tumours of the pancreas are malignant and surgical resection is the mainstay of treatment. The tumours are often small and intraoperative tumour localization is an important part of the operation. The type of tumour will dictate specific treatment.     

加强医院病理科管理与质量控制的5点建议——1例临床标本混淆引起的思考

病理学诊断是临床诊断和疾病治疗的重要参考依据,病理科的质量控制也是医院管理中的重要环节之一。通过回顾分析病理科发生的1例标本混淆,寻找管理流程中存在的问题,提出改进措施和意见,以达到完善病理科管理、提高病理质量控制水平的目的。     

Von Hippel-Lindau disease: protocols for diagnosis and periodical clinical monitoring. National Von Hippel-Lindau Disease Working Group

Von Hippel-Lindau disease (VHL) is an autosomal dominantly inherited syndrome with high penetrance, characterised by tumours in various organs. The Dutch VHL working group presents guidelines for DNA testing and clinical monitoring, to enhance early detection and treatment of VHL patients in the Netherlands. Diagnosis of VHL is justified in patients presenting with a typical VHL tumour with a positive family history, but patients with a VHL tumour and a negative family history may also have VHL. Diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene which is informative in virtually all VHL families. In a patient with (suspicion for) VHL there is an indication for genetic counselling. A protocol for clinical monitoring of VHL is presented and is recommended for: carriers of a VHL germline mutation; members of VHL families with an unknown familial mutation; members of VHL families who decline testing of the familial mutation; patients suspected for VHL, but without a detectable VHL gene mutation.     

Clinical value of selective serial sectioning of laryngectomy specimens.

A simple routine pathology method for examining laryngectomy specimens has been presented which (1) gives the clinician information regarding the probability of total excision of the tumour; (2) allows more accurate staging of laryngeal tumours; (3) will act as a basis for evaluation of preoperative investigations and future clinical trials of treatment.     

腹泻便中成团肠杆菌的分离与鉴定

本文报告了自腹泻便中检出的13株成团肠杆菌生化鉴定,分子生物学检测,药敏试验及致病性研究结果。生化鉴定结果与文献基本相符,分子生物学检测该组细菌DNA同源性为72％～100％,证明是同种细菌。致病性研究发现部分菌株可引起动物和生物模型病变,与人的腹泻关系密切,14种药物敏感试验说明该组细菌的抗药谱很广,临床上可用的敏感药物不多,发生感染后治疗将十分困难。     

Molecular subtyping of Bacillus anthracis and the 2001 bioterrorism-associated anthrax outbreak,United States

Molecular subtyping of Bacillus anthracis played an important role in differentiating and identifying strains during the 2001 bioterrorism-associated outbreak. Because B. anthracis has a low level of genetic variability, only a few subtyping methods, with varying reliability, exist. We initially used multiple-locus variable-number tandem repeat analysis (MLVA) to subtype 135 B. anthracis isolates associated with the outbreak. All isolates were determined to be of genotype 62, the same as the Ames strain used in laboratories. We sequenced the protective antigen gene (pagA) from 42 representative outbreak isolates and determined they all had a pagA sequence indistinguishable from the Ames strain (PA genotype I). MLVA and pagA sequencing were also used on DNA from clinical specimens, making subtyping B. anthracis possible without an isolate. Use of high-resolution molecular subtyping determined that all outbreak isolates were indistinguishable by the methods used and probably originated from a single source. In addition, subtyping rapidly identified laboratory contaminants and nonoutbreak-related isolates.     

The Scottish molecular genetics consortium--15 years on

Remarkable advances have been made in recent years in our knowledge of the human genome. Genes for disorders such as Huntington disease, cystic fibrosis and Duchenne muscular dystrophy have been mapped and mutations identified. Simple molecular tests are now available for the diagnosis of these and many other conditions. As a result, in the last 15 years the whole new field of molecular pathology has been introduced to the Health Service of the United Kingdom and now there are nearly 40 diagnostic laboratories offering tests for a wide range of genetic disease. Scotland was at the forefront in the introduction of molecular diagnostics to Clinical Genetics Services and as early as 1985 plans were made to provide laboratories in Aberdeen, Dundee, Edinburgh and Glasgow. The four laboratories, the clinical genetics staff in each centre and the officials of the National Services Division now form the Scottish Molecular Genetics Consortium the objective of which is to provide testing for a wide range of disorders, to introduce new tests as genes are identified and to carry this out in a cooperative and coordinated manner.     

Meningiomas: prognostic relevance of histopathologic and genetic markers]

The majority of meningiomas are histologically benign tumours. Location and invasion of tumour tissue in adjacent structures may hamper radical resections and give rise to recurrences. The rise in human life expectancy has prolonged the postoperative period and thus the risk of tumour recurrence has increased markedly. Infiltration in brain tissue and mitotic activity are important histologic features which negatively influence the disease-free duration of the postoperative period. Molecular studies of relevant genetic defects involved in meningioma are currently underway, but as yet these are of little clinical relevance.     

Ret-protooncogene mutation, verified by molecular genetic methods, in a Hungarian MEN Type 2a family

Multiple endocrine neoplasia Type 2 (MEN2) is a hereditary tumour syndrome characterized by the association of medullary thyroid cancer, phaeochromocytoma and hyperparathyroidism. It is inherited as an autosomal dominant trait. During the past few years the cloning of the gene responsible for the syndrome, the ret protooncogene, made the molecular genetic diagnosis of the disease possible. In this study we demonstrate the results of the MEN2 mutation analysis performed in three members of a Hungarian MEN2A family. The mutation analysis was carried out according to the method of Dr. W. Hoppner's Laboratory (Hamburg) that is the main centre for MEN2 genetic diagnosis in Germany. Two Members of the family are affected, one suffered from both medullary thyroid cancer and phaeochromocytoma, the other (the first patient's daughter) had only medullary thyroid cancer. We found a ret exon 11 codon 634 mutation, that resulted in the change of TGC to TAC, a cysteine-tyrosine amino acid exchange. We found no mutation in the youngest member of the family. This result is of great clinical significance, because the carrier status of this individual can thus be excluded and, therefore, there is no need for prophylactic thyroidectomy and further clinical screening tests. As molecular genetic diagnosis of MEN2 becomes possible, the uncertain clinical examinations used for MEN2 diagnosis seems to be less important.     

The biomarkers detecting early changes in the human organism exposed to occupational carcinogens

Epidemiological studies and clinical data confirm that occupational exposure to carcinogenic agents plays an important role in cancer etiology. Recent tremendous progress in understanding of the mechanisms of carcinogenesis, and also introduction of new tests to recognize changes occurring in the exposed organism have made it possible for the occupational medicine to detect the earliest cancer stages which occur during the latent phase of the disease. Detecting pre-neoplastic changes which precede an overt form of cancer and identification of measurable indicators of those changes has been one of the fundamental aims of molecular biology research. Biomarkers may serve as a research tool which makes it possible to achieve this aim. Suitably selected biomarker sets can provide information on the extent of the exposure to carcinogenic agents (biomarkers of exposure), detect early changes produced by the agents in the exposed organism (biomarkers of effects), and identify people with particularly high cancer risk (biomarkers of susceptibility). It will soon be possible to use molecular biomarkers, capable of detecting increased cancer risk at the molecular level of cell structure, in prophylactic action intended to reduce cancer incidence. Molecular biomarkers are capable of recording very early health effects of exposure to carcinogens, thus making it possible to determine cancer risk at a very early stage of cancer development.