核芯针活检在乳腺癌新辅助化疗前的组织学诊断评价

目的 评价核芯针活检(CNB)作为乳腺癌新辅助化疗前组织病理学诊断依据的价值.方法 收集2005年6月至2007年1月本院人组新辅助化疗患者119例,化疗前以CNB作为组织学诊断依据;化疗后乳腺改良根治标本按Miller和Payne分级系统标准取材;每例化疗前后病理切片均由两名主检医师双盲法独立诊断,并比较其诊断的符合率.结果 CNB诊断为癌110例,其中浸润性癌105例,导管内癌5例.治疗前后浸润性癌的诊断符合率为97.2%(105108).结论 CNB在乳腺癌新辅助化疗术前对于明确病变的良恶性具有诊断优势,对鉴别肿瘤组织是否为浸润性癌具有重要参考价值.     

超声诊断急性阑尾炎115例的临床价值

目的探讨超声在急性阑尾炎临床诊断上的价值。方法选取2008年2月～2009年12月在本院门诊及住院治疗的经手术及病理证实的急性阑尾炎患者115例,并对该组患者手术前超声诊断,术后病理检查,比较超声及术后病理检查的结果,分析其声像图特征。结果 115例患者中,手术病理诊断急性单纯性阑尾炎36例,超声诊断33例,诊断符合率为91.67%,漏诊2例;手术病理诊断急性化脓性阑尾炎55例,超声诊断52例,诊断符合率为94.55%,漏诊3例;手术病理诊断急性坏疽性阑尾炎16例,超声诊断16例,诊断符合率为100%;手术病理诊断穿孔型阑尾炎6例,超声诊断5例,诊断符合率为83.33%,漏诊1例;手术病理诊断阑尾周围脓性2例,超声诊断2例,诊断符合率为100%。结论超声检查对急性阑尾炎具有明确诊断及鉴别诊断的价值,其声像图变与病理改变基本一致,适用于所有具有阑尾炎临床表现的患者,有利于临床医师治疗方案的选择。     

腹腔镜胆囊切除术前超声诊断研究

目的探讨超声诊断在腹腔镜胆囊切除术中的临床应用价值.方法回顾性对照分析286例腹腔镜胆囊切除术患者术前超声诊断与术后病理结果.结果各类胆囊疾病术前超声诊断与术后病理诊断的符合率均在90%以上,平均95%;对胆囊息肉诊断的符合率较低,仅为77.7%.结论超声诊断对腹腔镜手术具有重要的临床应用价值.术前超声检查发现胆总管结石并扩张及胆囊壁厚度＞0.5 cm的患者均应慎作腹腔镜手术.     

分析彩色多普勒超声诊断甲状腺肿瘤的临床价值

目的研究探讨彩色多普勒超声对于甲状腺肿瘤的临床应用和诊断价值。方法选取我院收治的甲状腺肿瘤患者87例作为研究对象，所有患者均经手术病理证实，回顾性分析患者的临床基本资料和彩超诊断结果。观察患者的彩超诊断图像，分析图像特征。结果经彩色多普勒超声诊断，共检出单侧甲状腺肿瘤69例，其中左侧甲状腺肿瘤和右侧甲状腺肿瘤分别有41例和28例，双侧甲状腺肿瘤18例。超声诊断为甲状腺腺瘤的患者共计59例，其中55例经手术病理证实，超声检测的符合利率为93.2%；诊断为甲状腺癌的患者有11例，但经手术病理证实有甲状腺癌14例，包括8例淋巴结转移的情况，检测的符合率为78.6%；诊断为结节性甲状腺肿的患者17例，经手术病理证实为结节性甲状腺肿的患者有18例，符合率为94.4%。结论彩色多普勒超声可以作为甲状腺肿瘤的辅助诊断措施，具有操作简便、不会对患者造成损伤、诊断符合率高的特点，对甲状腺肿瘤的鉴别具有一定的临床价值。     

探讨彩色多普勒超声检查对妇产科急诊的诊断与鉴别诊断价值

目的探讨彩色多普勒超声检查对妇产科急诊的诊断与鉴别诊断价值。方法选取我院2012年6月~2013年6月接收的73例妇产科急诊患者作为观察对象,对患者的临床声像图进行回顾性分析,并进行总结。结果73例妇产科急诊患者经超声诊断结果一致的为71例,符合率为97.26%。50例异位妊娠的患者,经超声检查诊断出48例,10例急性盆腔炎全部检出,8例卵巢囊肿蒂扭转全部检出,5例卵巢囊肿破裂全部检出。结论彩色多普勒超声检查方便简单,诊断准确率高,为临床上对妇产科急腹症的诊断和治疗提供可靠依据。     

超声诊断急性阑尾炎115例的临床价值

目的 探讨超声在急性阑尾炎临床诊断上的价值.方法 选取2008年2月～2009年12月在本院门诊及住院治疗的经手术及病理证实的急性阑尾炎患者115例,并对该组患者手术前超声诊断,术后病理检查,比较超声及术后病理检查的结果,分析其声像图特征.结果 115例患者中,手术病理诊断急性单纯性阑尾炎36例,超声诊断33例,诊断符合率为91.67%,漏诊2例;手术病理诊断急性化脓性阑尾炎55例,超声诊断52例,诊断符合率为94.55%,漏诊3例;手术病理诊断急性坏疽性阑尾炎16例,超声诊断16例,诊断符合率为100%;手术病理诊断穿孔型阑尾炎6例,超声诊断5例,诊断符合率为83.33%,漏诊1例;手术病理诊断阑尾周围脓性2例,超声诊断2例,诊断符合率为100%.结论 超声检查对急性阑尾炎具有明确诊断及鏊别诊断的价值,其声像图变与病理改变基本一致,适用于所有具有阑尾炎临床表现的患者,有利于临床医师治疗方案的选择.     

超声检查对胎盘早剥的临床诊断价值

目的 探讨胎盘早剥超声诊断方法及超声声像图特征,提高诊断符合率,为临床及早提供可靠的诊断依据,降低母子病死率及DIC等严重并发症的发生.方法 对28例被临床及病理证实的胎盘早剥的声像图表现进行回顾性分析.结果 B超诊断胎盘早剥26例,诊断符合率为92.85%(26/28),漏诊2例(2/28),漏诊率为7.15%.结论 超声检查对胎盘早剥的诊断准确率高,具有无创、可重复多次检查,配合多普勒血流显像(CDFI)更有助于诊断与鉴别诊断.     

B超诊断葡萄胎

目的 分析葡萄胎的超声影像特点,提高诊断符合率.方法 对本院近7年来超声诊断的50例葡萄胎进行回顾性分析.结果 本组50例经病理证实,诊断符合率94%;2例误诊,占6%.结论 典型葡萄胎的二维超声图像具有特异性,有较高的临床符合率,但是非典型葡萄胎需结合临床、实验室检查及随访,才能作出正确诊断,减少误诊.     

126例胸水患者的细胞遗传学研究

目的与方法126例胸水患者进行细胞染色体检查.结果二倍体40例,未查到染色体6例,异倍体80例.结合临床资料分析,前46例中42例为结核性胸水,4例为恶性胸水.后80例皆为恶性胸水,细胞遗传学分析与临床诊断符合率为97%,恶性肿瘤染色体检出率为66%.结论研究胸水染色体变化有助于临床诊断及鉴别诊断.     

原因不明的长期发热常见疾病鉴别诊断专家系统

本文报告用模糊数学和概率统计评分法模拟人的思维建立原因不明的长期发热常见疾病鉴别诊断专家系统，用ＦＯＸＢＡＳＥ＋语言编程并在微型电子计算机上实现，回顾性检测正确率９４．４％，用２５０例确诊病例验证诊断正确率为９０．３％，与专家诊断比较符合率＞８７％。     

The Role of Invasive and Non-Invasive Procedures in Diagnosing Fever of Unknown Origin

Background: The etiology of fever of unknown origin has changed because of the recent advances in and widespread use of invasive and non-invasive diagnostic tools. However, undiagnosed patients still constitute a significant number.Objective: To determine the etiological distribution and role of non-invasive and invasive diagnostic tools in the diagnosis of fever of unknown origin.Materials & Methods: One hundred patients who were hospitalized between June 2001 and 2009 with a fever of unknown origin were included in this study. Clinical and laboratory data were collected from the patients'' medical records retrospectively.Results: Fifty three percent of the patients were male, with a mean age of 45 years. The etiology of fever was determined to be infectious diseases in 26, collagen vascular diseases in 38, neoplastic diseases in 14, miscellaneous in 2 and undiagnosed in 20 patients. When the etiologic distribution was analyzed over time, it was noted that the rate of infectious diseases decreased, whereas the rate of rheumatological and undiagnosed diseases relatively increased because of the advances in imaging and microbiological studies. Seventy patients had a definitive diagnosis, whereas 10 patients had a possible diagnosis. The diagnoses were established based on clinical features and non-invasive tests for 61% of the patients and diagnostic benefit was obtained for 49% of the patients undergoing invasive tests. Biopsy procedures contributed a rate of 42% to diagnoses in patients who received biopsies.Conclusion: Clinical features (such as detailed medical history-taking and physical examination) may contribute to diagnoses, particularly in cases of collagen vascular diseases. Imaging studies exhibit certain pathologies that guide invasive studies. Biopsy procedures contribute greatly to diagnoses, particularly for malignancies and infectious diseases that are not diagnosed by non-invasive procedures.     

高分辨核磁检查在颅内动脉血管疾病的应用及临床意义

目的:探讨高分辨核磁检查（HRMRI）在颅内动脉血管疾病诊断中的应用价值。方法:选择邯郸市第一医院2017年1月~2018年12月收治的62例颅内动脉血管疾病患者,所有患者均行HRMRI和数字减影血管造影（DSA）检查。以DSA为金标准计算HRMRI诊断颅内动脉血管疾病类型的符合率,并采用Kappa检验二者的一致性;以DSA为金标准计算HRMRI诊断颅内动脉狭窄程度的符合率,并采用Kappa检验二者的一致性。结果:62例患者中DSA诊断出44例动脉粥样硬化、11例血管炎、7例动脉夹层;HRMRI诊断出43例动脉粥样硬化、13例血管炎、6例脉夹层,符合率90.32%（56/62）,一致性较高（Kappa值=0.864）。DSA检查结果显示轻度狭窄9例、中度狭窄26例、重度狭窄27例;HRMRI显示轻度狭窄7例、中度狭窄24例、重度狭窄31例,符合率83.87%%（52/62）,一致性较高（Kappa值=0.812）。结论:HRMRI可清晰显示管壁与管腔,对颅内动脉血管疾病类型的鉴别与狭窄程度的评估均与DSA具有较高的一致性,可在颅内动脉血管疾病的临床诊断中推广。     

Fine-needle aspiration for the diagnosis of orbital hematolymphoid lesions

Ocular and periocular hematolymphoid diseases are a diverse group of lesions affecting various soft tissue structures within the orbital cavity. Lymphoid proliferations in particular are among the most commonly diagnosed entities in orbital pathology. When noninvasive techniques fail to confirm or rule out the suspicion of orbital neoplasia, fine-needle aspiration (FNA) may be of use in establishing a diagnosis in a reliable, timely, cost-effective and safe manner. From 1986 to 1999, 79 orbital/ocular needle aspiration biopsies were conducted by staff ophthalmologists at Allegheny General Hospital. Slides from these cases and corresponding reports were pulled from the cytology files and grouped into the two broad categories of hematolymphoid and other. Specimens came from patients ranging in age from 14 to 88 years (mean, 64 years) with eight patients having known histories of hematolymphoid disorders. Immunocytochemical (ICC) studies were performed in 33% of the cases (14/43). Review of the diagnoses for the 79 aspiration specimens revealed 30 cases diagnosed as lymphoma/atypical lymphocytic infiltrate, cases diagnosed as inflammation or abscess, three cases diagnosed as plasmacytoma, three cases called suboptimal with scant inflammatory cells, and one case of Langerhans' cell histiocytosis. Hematolymphoid diagnoses accounted for 54% (43/79) of all diagnoses. Histologic correlation was available in 33% (14/43) of the cases (nine cases diagnosed as cytologically atypical/malignant and five cases called cytologically benign/suboptimal) with 100% correlation. Hematolymphoid lesions of the orbit are readily diagnosed by FNA. Because many hematolymphoid malignancies are treated as systemic or multiorgan system diseases and because ocular lymphomas may also involve the central nervous system, nonsurgical attempts at diagnosis have the potential to spare the patient procedural morbidity which may be associated with open biopsy. Our experience indicates that the combination of FNA, judicious use of immunocytochemical studies, and correlation with pertinent clinical information and imaging studies allows for reliable and effective classification and diagnosis of orbital hematolymphoid lesions.     

Concordance between premortem and postmortem diagnosis in the autopsy: results of a 10-year study in a tertiary care center

We describe the concordance between clinical diagnoses and autopsy findings in a tertiary care center. Clinical autopsy is a useful tool for the evaluation of accuracy of the clinical diagnoses. However, autopsy rates have declined around the world recently. We randomly evaluated 500 of 2,211 autopsies performed in the department of pathology of a tertiary care hospital during a 10-year period. We computed the sensitivity, specificity, predictive values, and concordance scores between premortem and postmortem diagnoses. The autopsy diagnoses were used as the "gold standard." Four-hundred twenty-two (84.4%) of the autopsies met inclusion criteria. Diseases of the respiratory tract were diagnosed in 44.1% (186) of all autopsy reports reviewed. The higher sensitivity for diagnosis was observed in congenital anomalies (87.5%), while the higher specificity was observed in diagnosis of complications of pregnancy, childbirth, and the puerperium (98.98%). The higher concordance between premortem and postmortem diagnosis was observed with the diagnoses of neoplasms (kappa = 0.76), and for the group of complications of pregnancy, childbirth, and the puerperium (kappa = 0.76). A clinical diagnosis successfully addressed the cause of death in 40% of the cases Low values for concordance between autopsy reports and clinical diagnoses were present in most of the autopsies reports reviewed. We encourage physicians to continue considering the autopsy as an important tool that extends our understanding of diseases.     

Audit of the histopathological diagnosis of non-neoplastic colorectal biopsies: achievable standards for the diagnosis of inflammatory bowel disease.

AIM: To assess the performance of a histopathology department in diagnosing inflammatory bowel diseases with comparison of reports from other centres. STUDY POPULATION: 1067 sets of endoscopic biopsies received in the department of histopathology, Royal Hallamshire Hospital, 1990-1995. METHODS: The histopathological diagnosis of non-neoplastic endoscopic colorectal biopsies was audited using data from histopathology reports. The biopsy diagnosis by the initial reporting pathologist and final diagnosis after additional investigations (endoscopy, radiology, microbiology) or surgery were used to derive sensitivity, specificity, and positive predictive values for categories of disease. RESULTS: Diagnosis was validated for 1067 biopsy sets (43% of those initially assessed). For all biopsies (with or without active inflammation) reports highly suggestive or suggestive of Crohn's disease had a sensitivity of 50%; for ulcerative colitis the comparable figure was 62%. Sensitivity was the same for both diagnoses (74%) in those biopsies with active inflammation. Positive predictive values for highly suggestive diagnoses of ulcerative colitis or Crohn's disease were 100%. In all biopsies the specificity of a histopathological diagnosis of normality was 96%. CONCLUSIONS: These results compare favourably with the other published audits and present an achievable level of performance for non-specialist hospitals with non-specialist histopathology services.     

The Gospel Oak Study stage II: the diagnosis of dementia in the community

An attempt was made to assess in detail subjects screened as suffering from dementia among a North London community sample of elderly people. Forty-eight (80%) subjects were interviewed, 7 (12%) were found to have died and 5 (8%) either refused interview or were lost to follow-up. By clinicians' diagnosis of the 48 interviewed, 22 subjects (46%) had probable Alzheimer's disease, one had multi-infarct dementia, five had mixed dementia, five had secondary dementia, 10 had a dementia which could not be further classified and 5 were not demented. No subject had a reversible condition. The prevalence rate for clinical dementia was 6.1%, and for Alzheimer's disease 3.1%. According to AGECAT diagnosis the prevalence of organicity was 5.7%. The AGECAT diagnoses and psychiatrists' diagnoses were significantly associated (P less than 0.003) and AGECAT was more likely to identify as organic those subjects with dementia diagnosed by psychiatrists as Alzheimer's disease, than those not so diagnosed (P less than 0.04). A short psychometric battery, including the MMSE in two versions, was administered and its acceptability to a community sample evaluated. This detailed clinical investigation showed that the Dementia Diagnostic Scale of the Short-CARE was a specific predictor of clinical dementia or death at the time of follow-up, whereas the more inclusive Organic Brain Syndrome scale was a more satisfactory first phase screening instrument.     

Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application

The genetic spectrum of genetic kidney diseases (GKD) and the application of genetic diagnoses to patient care were assessed by whole exome sequencing (WES) of the DNA of 172 pediatric or adult patients with various kidney diseases. WES diagnosed genetic diseases in 63 (36.6%) patients. The diagnostic yields in patients with glomerulopathy were 33.8% (25/74 pts) due to variants in 10 genes, 58.8% (20/34) in patients with tubulointerstitial disease due to variants in 18 genes, 33.3% (15/45) in patients with cystic disease/ciliopathy due to variants in 10 genes, 18.2% (2/11) in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) due to variants in two genes, and 12.5% (1/8) in patients with end stage kidney disease (ESKD). The diagnosis rate was high in patients aged <1–6 years (46–50.0%), and low in patients aged ≥40 years (9.1%). Renal phenotype was reclassified in 10 (15.9%) of 63 patients and clinical management altered in 10 (15.9%) of 63 patients after genetic diagnosis. In conclusion, these findings demonstrated the diagnostic utility of WES and its effective clinical application in patients, with various kinds of kidney diseases, across the different age groups.     

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

PurposeRecognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of highly specialized experts to professionals involved in early diagnoses. We introduce IEMbase, an online expert-curated IEM knowledge base combined with a prototype diagnosis support (mini-expert) system.MethodsDisease-characterizing profiles of specific biochemical markers and clinical symptoms were extracted from an expert-compiled IEM database. A mini-expert system algorithm was developed using cosine similarity and semantic similarity. The system was evaluated using 190 retrospective cases with established diagnoses, collected from 15 different metabolic centers.ResultsIEMbase provides 530 well-defined IEM profiles and matches a user-provided phenotypic profile to a list of candidate diagnoses/genes. The mini-expert system matched 62% of the retrospective cases to the exact diagnosis and 86% of the cases to a correct diagnosis within the top five candidates. The use of biochemical features in IEM annotations resulted in 41% more exact phenotype matches than clinical features alone.ConclusionIEMbase offers a central IEM knowledge repository for many genetic diagnostic centers and clinical communities seeking support in the diagnosis of IEMs.     

Clinical diagnosis of mycobacterial diseases versus autopsy findings in 350 patients with AIDS

Three-hundred fifty consecutively autopsied AIDS patients in Milan, Italy, were studied to determine the frequencies of clinical and postmortem diagnoses of mycobacterial diseases, to evaluate the clinical histories of those patients with mycobacterial diseases, and to investigate the reasons for nondiagnosis of mycobacterial diseases during life. Seventy-eight patients (22.3%) had mycobacterial diseases. In 64 cases (18.3%) the diagnosis was made antemortem and in 50 (14.2%) at autopsy; there were 36 cases of concordant clinical and postmortem diagnoses. Nontuberculous mycobacterioses (NTM) were diagnosed in 41 patients (20 clinical/postmortem diagnoses, 11 clinical diagnoses, and 10 postmortem diagnoses), extrapulmonary tuberculosis (TB) in 19 patients (7 clinical/postmortem, 8 clinical, 4 postmortem), and pulmonary TB in 18 patients (9 clinical/postmortem, 9 clinical). Patients with a clinical diagnosis of mycobacteriosis but with no pathological evidence of disease at autopsy were considered to have recovered on the basis of negative culture findings and prolonged antimycobacterial treatment. In Italian patients with AIDS, NTM occurs less frequently and TB more frequently than in American AIDS patients. At least some of the patients reported in this study seemed to have recovered from mycobacterial disease after prolonged treatment. The lack of diagnosis during life can be attributed to aspecific symptoms, a rapidly terminal course, and the presence of concomitant opportunistic diseases.     

Primary diagnosis of Whipple's disease in bone marrow

Whipple's disease (WD) is a chronic systemic inflammatory disease of infectious origin caused by Tropheryma whipplei (TW). Abdominal pain and recurrent diarrhea are usually the main symptoms leading to the suspicion of a primary bowel disease. Systemic manifestations can mimic hematologic disorders. A 49-year-old man presented with fever, weight loss, long-standing arthralgia, and diarrhea. A duodenal biopsy was unremarkable. Bone marrow histology provided no evidence of a malignant hematological disorder but revealed noncaseating granulomas. TW was detected in the bone marrow trephine by polymerase chain reaction. This is the first report to describe TW-associated granulomatous myelitis as the initially recognized organ manifestation of WD, proven at the molecular level. This observation is relevant for the differential diagnosis of patients with systemic symptoms and granulomatous diseases affecting the bone marrow, emphasizing that WD should be considered in cases of unexplained granulomatous myelitis, even when small bowel biopsy specimens are negative.