Fine needle aspiration of toxoplasmic (Piringer-Kuchinka) lymphadenitis: a cytohistologic correlation study

OBJECTIVE: To define the cytomorphologic features of toxoplasmic lymphadenitis (TL) and to establish the diagnostic sensitivity and specificity of the cytologic diagnosis. STUDY DESIGN: A cytohistologic correlation study of 11 patients in which a histologic diagnosis of TL was available. These cases were analyzed in a blind study among other cases of nonneoplastic lymphadenopathies. The results of the study are expressed in terms of diagnostic sensitivity and specificity. Although not included in the study, 3 other cases of TL with serologic confirmation were also reviewed. RESULTS: Microgranulomas were a characteristic finding in TL. They consisted of small clusters of epithelioid histiocytes, each with abundant cytoplasm and an eccentric, oval nucleus. Diff-Quik-stained smears had cytoplasm with particularly pale staining and a homogeneous appearance. Most microgranulomas had a monotonous appearance with a few, small lymphocytes accompanying the epithelioid cells. No necrosis, suppurative changes or giant cells were present. Blind examination by 4 reviewers led to a correct diagnosis of TL in 9 of the 11 cases. Eight of the 9 cases were recognized by each of the 4 reviewers. One false positive diagnosis was made by 1 of the reviewers. The sensitivity of the diagnosis was 72.7-81.8% and the specificity 98.8-100%. CONCLUSION: This study showed high sensitivity and specificity for the cytologic diagnosis of TL. Given the appropriate clinical context, the presence of characteristic epithelioid microgranulomas permits a diagnosis of TL. The cytologic diagnosis can be easily confirmed with serologic studies, thereby avoiding biopsy.     

IgG and IgM western blot assay for diagnosis of congenital toxoplasmosis

The aim of this study was to evaluate the utility of western blot (WB) analysis as a diagnostic tool for congenital toxoplasmosis in 215 newborn infants. The children were submitted to clinical examinations to assess macular, neurological and hearing signals. The WB results obtained were compared to the persistence of IgG antibodies at the end of 12 months, which is regarded as the "gold standard" diagnosis of congenital toxoplasmosis. Association between the WB results and the clinical signs presented by the infants was also assessed. Of the 215 children, 177 had a confirmed congenital toxoplasmosis diagnosis and 38 were uninfected. IgG-WB showed a sensitivity of 73.5% and a specificity of 97.4%. IgM-WB showed a sensitivity of 54.8% and a specificity of 94.7%. The IgG-WB and IgM-WB combination increased the sensitivity to 86.5%. The IgM-WB-positive children had a 1.4-fold greater risk of presenting active macular lesions than did those that were IgM-WB-negative. This study showed that the WB assay is a useful tool to confirm a diagnosis of congenital toxoplasmosis and that the IgM-WB-positive results can indicate active macular lesions in newborn infants.     

Fine needle aspiration cytology of thyroid nodules: how accurate is it and what are the causes of discrepant cases?

Fine-needle aspiration cytology (FNAC) is widely accepted as the most accurate, sensitive, specific and cost-effective diagnostic procedure in the assessment of thyroid nodules and helps to select people preoperatively for surgery. The purpose of this study was to evaluate the results of thyroid FNAC in our institution and to determine the reasons for discrepancies between the cytological and histological diagnosis. We evaluated the cytological and histological results of 254 FNACs obtained from 231 patients who underwent subsequent thyroid surgery. All of the material was blindly reviewed for quality control, by one experienced cytopathologist. All FNACs were carried out under ultrasound guidance. The cytological diagnosis was classified as benign, suspicious, malignant or unsatisfactory. The definitive histological study showed benign lesions in 195 of the 231 patients (84%). A benign diagnosis based on FNAC was correct in 105 of the 108 benign cases (97%). FNACs diagnosed as 'suspicious' resulted in a distribution of 49 benign (79%) and 13 malignant (21%) diagnoses. FNAC showed malignancy in 34 cases (13%) and in only one case did the final histology differ from cytology (correlation 97%). The percentage of FNACs that were inadequate for diagnosis was 20%. Review of cytological and histological slides did not lead to any change in the original diagnosis. Our study revealed a cytological-histological discrepancy (2%) in only 4 out of 231 cases over a period of 10 years, due to either a diagnostic or sampling error.     

Hemangiopericytoma in a male breast. Report of a case with cytologic, histologic and immunochemical studies

A hemangiopericytoma in a male breast was studied by fine needle aspiration (FNA) biopsy. The FNA smears contained tissue clumps showing knob-like formations of atypical cells, spindle-shaped cells and fragments of capillaries lined by normal endothelial cells. Immunocytochemical study showed a positive reaction for vimentin, but a negative reaction for desmin and keratin. Staining for Factor VIII was positive only in the capillaries and endothelial cells. The cytodiagnosis was "mesenchymal tumor." Histopathologic study of the mastectomy specimen made the final diagnosis of hemangiopericytoma. While FNA cytology and immunocytochemistry cannot make a definitive diagnosis of this rare vascular tumor, they can be decisive in planning the surgical treatment, as in the present case.     

Cytologic features of pulmonary hamartoma. Report of a case diagnosed by fine needle aspiration cytology

BACKGROUND: Pulmonary hamartoma (PH) is the most common benign tumor of the lung. It is usually composed of cartilage, fat, smooth muscle and respiratory epithelium. Its diagnosis is based on imaging methods (radiography, computed tomography) and cytohistomorphologic study by means of fine needle aspiration cytology (FNAC). CASE: A 59-year-old female had a productive cough and lung mass on chest radiography. Fine needle aspiration of the nodule showed a fusiform tumor cell, which was diagnosed as consistent with PH. The patient underwent surgery for the tumor. Histopathologic study confirmed the diagnosis of PH. CONCLUSION: The fluoroscopically guided FNAC specimen was adequate in achieving a diagnosis. Cytologic features consisted of a serosanguineous background in which scant cellular elements of spindle and stellate cells, as well as fibromyxoid material, enabled us to make a definitive diagnosis. Since this technique is relatively noninvasive, it is very useful in diagnosing PH before a preoperative biopsy.     

细胞SELEX技术用于胰腺癌细胞特异性适配体的筛选及鉴定

细胞SELEX是目前常用的筛选细胞特异性适配体的技术。胰腺癌细胞特异性适配体在胰腺癌的诊断和治疗中有巨大的应用潜力。本研究拟通过该技术获得特异性识别胰腺癌PANC-1细胞的适配体,并对所筛选的适配体进行功能鉴定。本研究以胰腺癌PANC-1细胞为正筛细胞,正常胰腺导管上皮细胞HPDE6-C7为负筛细胞,通过磁珠法细胞SELEX技术进行筛选。经过12轮筛选,对筛选文库进行PCR扩增、质粒转染、单克隆挑选及测序,获得2条适配体Apt-5和Apt-12。流式细胞术检测发现,适配体Apt-5和Apt-12可特异性识别PANC-1细胞,其Kd值分别为8.27±2.10 nmol/L和8.88±2.51 nmol/L,Kd值均处于纳摩尔级别。通过RNA结构预测,2条适配体的二级结构均为茎-环结构。细胞免疫荧光验证了适配体的结合部位为细胞膜表面。本研究表明,通过磁珠法细胞SELEX技术,成功获得可特异性识别胰腺癌PANC-1细胞的适配体。该适配体有望成为胰腺癌诊断和治疗中的特异性分子靶向剂。     

Technical evaluation of nested PCR for the diagnosis of experimental sporotrichosis

BackgroundSporotrichosis caused by the dimorphic fungus Sporothrix schenckii can presents in a variety of clinical forms. Routine diagnosis is made by mycology and serology studies. Few investigations have been focused on the evaluation of the molecular diagnosis.AimTo determine the value of the nested PCR technique for the diagnosis of experimental sporotrichosis in organs of mice, and to compare the results with the established laboratory diagnostic procedures.MethodsBALB/c mice were inoculated with growing concentrations of the 2 morphological phases of the fungus. The infected animals were sacrificed one month later and specimens from liver, spleen, lung and testicle were obtained to perform wet mount, culture and molecular diagnosis by the nested PCR technique. Blood samples were obtained for determination of specific antibodies against S. schenckii by the double immunodiffusion procedure.ResultsThe pathogenicity observed with the different concentrations of the fungus inoculated and its isolation by culture, showed scarce differences in the study of specimens from organs infected with the 2 morphological phases of S. schenckii. Specimens from organs of mice inoculated with the mycelial phase when studied by wet mount and culture, showed a higher positivity (100 and 37.5%) than those from mice inoculated with the yeast phase (73 and 2%). However, diagnosis by the nested PCR molecular technique applied to the latter specimens showed a higher percentage of positivity (75%) and 43% of positive results coming from animals infected with the mycelial phase. Specific antibody detection was positive in 100% all groups of infected mice.ConclusionsIn the study of experimental sporotrichosis in mice, the culture, as well as the antibody detection, was an effective diagnostic procedure, while the nested PCR and microscopic studies had a lower diagnostic value.     

Comparison of barium swallow and ultrasound in diagnosis of gastro-oesophageal reflux in children.

Fifty one infants and older children with suspected gastro-oesophageal reflux entered a study comparing the diagnostic accuracy of a standard barium swallow examination with that of ultrasound scanning. All children were examined by both techniques. In 40 cases there was unequivocal agreement between the examinations. Of the remaining patients, four had definite reflux by ultrasonic criteria but showed no evidence of reflux on barium swallow examination, four had positive findings on ultrasound but showed only minimal reflux on barium swallow, and one showed minimal reflux on ultrasound but had a negative barium meal result. In two children the ultrasound study was inconclusive. Ultrasound has an important role in the diagnosis and follow up of patients under the age of 5 years with gastro-oesophageal reflux.     

螺旋CT增强扫描对孤立性肺结节的诊断价值

目的:研究螺旋CT增强扫描时孤立性肺结节的诊断价值。方法:回顾分析经病理证实的恶性结节50例、炎性结节26例、结核瘤12例的螺旋CT增强扫描的表现。结果:恶性结节和炎性结节增强扫描的强化程度明显高于结核瘤(P＜0．05)。炎性结节强化峰值的时间较恶性结节延迟。恶性结节增强扫描出现点、条状及边缘强化。结论:螺旋CT增强扫描对孤立性肺结节的诊断具有重要临床应用价值。     

Fine needle aspiration of peripheral neuroepithelioma of soft tissues.

Peripheral neuroepithelioma of soft tissue is a malignant primitive neuroectodermal tumor that appears both in children and adults and usually has a poor outcome. Fine needle aspiration on two patients with tumors in the lower limbs showed small round cells with unipolar processes and a tendency to form Homer-Wright rosettes. The cells had a round to oval nucleus with fine chromatin, up to four small, conspicuous nucleoli and vacuolated, periodic acid-Schiff-positive cytoplasm. The diagnosis was supported by electron microscopic study of the aspirate, which showed features of neuroblastic differentiation (i.e., neurosecretory granules), and by histologic, immunohistochemical and cytogenetic study of the resected tumors.     

Papillary cystic neoplasm of the pancreas. Report of a case diagnosed by fine needle aspiration cytology

Fine needle aspiration (FNA) performed on a young woman who presented with a mass in the left hypochondrium yielded fluid. Smears and Cytospin preparations of the fluid showed good cellularity, consisting of relatively monomorphic cells forming a perivascular papillary pattern. FNA cytology thus suggested a diagnosis of papillary cystic neoplasm of the pancreas. Surgical removal of the pancreatic tumor and detailed histologic study confirmed the cytologic diagnosis.     

The variability of the morphological and structural elements of the frustule in genetically homogeneous and heterogeneous groups of the diatom Nitzschia rectilonga Takano, 1983 (Bacillariophyta)

The inter- and intraclonal variability of the morphology and ultrastructure of the frustule of Nitzschia rectilonga Takano, 1983 was investigated. This study showed a wider intraclonal variability than in the diagnosis of the species. An emended diagnosis of the species is provided; a twofold reduction in the density of striae that are visible under a light microscope was found compared to electron-microscope images.     

Mutation analysis in spinal muscular atrophy using allele-specific polymerase chain reaction

Polymerase chain reaction (PCR), followed by restriction digestion is universally used for molecular diagnosis of spinal muscular atrophy (SMA). In the present study, we have used a modified strategy based on amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) to develop a rapid and reliable method for mutation detection and prenatal diagnosis in SMA patients. The telomeric (SMN1) and centromeric (SMN2) copies of exon 7 of the survival motor neuron (SMN) gene were amplified by ARMS-PCR, using primers specific to SMN1 and SMN2 nucleotide sequence with the exonic mismatch G (for SMN1) and A (for SMN2) at the 3' end. The PCR products were analyzed on agarose gels. All the patients who had homozygous deletion of exon 7 of SMN1 gene by conventional PCR-restriction fragment length polymorphism (PCR-RFLP) method showed the same deletion status by ARMS-PCR. This procedure showed a 100% concordance between PCR-RFLP and ARMS-PCR methods for the detection of SMN1/SMN2 status in patients with SMA. An artifact due to incomplete digestion is not a problem while using ARMS-PCR. The modified protocol is specific, rapid and highly reliable for use in prenatal diagnosis as well.     

Identification of cytomegalovirus (CMV) infection by different laboratory methods in renal transplant recipients undergoing triple-drug immunosupressive treatment.

Early diagnosis of CMV infection is very important mainly in transplant recipients because CMV infection is a frequent complication after transplantation. In this work we compared different laboratory methods: ELISA (IgG, IgM), Western blot,shell vial, antigenemia assay (pp65), the immunofluorescent method with epithelial cells from urine (IF), DNA in leukocytes by PCR and DNA in leukocytes by hybridization (HCS) to estimate the most proper method for diagnosis of CMV in renal transplant recipients. This preliminary study showed that HCS, PCR and Western blot are sensitive methods for detecting CMV infection. Using HCS in quantitative variant we obtained a very good correlation between DNA load and clinical symptoms.     

超声检查在乳腺癌诊断中价值的探讨

目的：探讨二维及彩色多普勒超声在乳腺癌诊断方面的临床应用价值。方法：对60例经手术病理证实的乳腺肿块病例的二维及彩色多普勒超声检查与病理结果进行回顾性分析。结果：乳腺癌诊断中,大多数恶性肿块表现为形态不规则、边缘粗糙、边界不清、内部回声不均匀、后方回声衰减。恶性肿块的血流显示率明显高,血流分布以Ⅱ、Ⅲ级为主。结论：二维声像图及彩色多普勒在乳腺癌诊断方面有较高的临床应用价值。由于良恶性肿物的影像互有交叉,其诊断符合率并非是100%。须两者联合应用,综合分析,方可提高超声对乳腺良恶性肿块的诊断符合率。     

Preoperative fine needle aspiration cytology of a microcystic adenoma of the pancreas

The preoperative fine needle aspiration (FNA) biopsy diagnosis of a microcystic adenoma of the pancreas is reported. Ultrasound examination and computed tomography showed a solid tumor in the pancreatic tail in a 68-year-old woman with abdominal discomfort. FNA biopsy of the lesion yielded a sample that contained only a few clusters of flattened ductal cells without criteria of malignancy. The presence of a considerable amount of watery fluid in the FNA sample was the main feature that suggested the diagnosis of a microcystic adenoma. This was confirmed by histologic study of the resected lesion. The differential diagnosis of microcystic adenoma is briefly discussed.     

Clinical,cytogenetical and molecular analyses of Angelman syndrome

A total of 95 patients suspected with the clinical diagnosis of AS were evaluated and 37 cases (39%) were confirmed by cytogenetic or molecular studies as affected by Angelman syndrome. The clinical analysis was performed according to a specific clinical protocol for the diagnosis of AS. Cytogenetical analysis was used to detect chromosome rearrangements by determining the karyotype in lymphocytes by GTG banding and revealed an abnormal karyotype in two cases (5.4%), both of them presenting a new pericentromeric inversion in chromosome 15. Molecular analyses included determination of DNA methylation within the 15q11-13 region by Southern blotting and microsattelite analysis within the 15q11-13 region by PCR and the UBE3A gene was also studied by mutational screening. In 16 cases (43.2%) a de novo deletion was detected in the maternal chromosome 15:3 cases (8.1%) presented imprinting defect at the 15q11-13 region; one case is due to a paternal uniparental dissomy (2.7%) and another two cases showed a inherited mutation at the UBE3A gene (5.4%). Thirteen cases (35.1%) showed no deletion, no UPD, no imprinting defect, no UBE3A mutation and the diagnosis of AS could be ruled out in 58 patients. The objective of the present work was to describe the clinical and laboratory protocols employed at our laboratory in order to establish the AS study. We conclude that the protocols employed here were efficient for the diagnosis of AS, a frequently underdiagnosed pathology.     

Systems biology in unruptured intracranial aneurysm: a metabolomics study in serum for the detection of biomarkers

Intracranial aneurysm (IA) is a common devastating condition occurs in up to 6 % of the population. It is asymptomatic but potentially fatal because of the progressive enlargement and rupturing leads to subarachnoid hemorrhage. Early diagnosis of IA is more valuable before it ruptures and hemorrhage. The diagnosis of IA is usually carried out using computerized tomography or magnetic resonance imaging. However, there is no biochemical test or a marker available for diagnosis. Serum metabolites were analyzed from normal and unruptured intracranial aneurysms patients (UIA) by NMR spectroscopy to identify the presence of serum markers, which could provide a clue for diagnosis and altered metabolic pathways in UIA condition. Analysis of proton spectra revealed significant perturbations in 20 serum metabolites in UIA. Multivariate analysis showed a distinct separation of normal from UIA based on 17 most contributing metabolites, and the scoring algorithm determines the perturbed metabolic pathways in UIA (urea cycle, citric acid cycle and ammonia recycling). Also, the gene expression analysis shows the significant (p ≤ 0.05) change in ARG, CPS1 and OTC genes leading to dysregulation in the urea cycle. Further, estimation of urea showed a significant increase in serum urea, which provides the prospect of rapid diagnosis. Overall, this study demonstrates the promise of developing biomarkers for the diagnosis of UIA from serum. In addition, the implementation of systems biological approach in metabolomic context gained an understanding about UIA that reflects the numerous metabolic pathways identified to be affected in disease condition.     

Fine needle aspiration biopsy of peripheral congenital bronchial cyst

Bronchial cysts usually occur centrally near the mediastinum, but may present as a peripheral "coin" lesion requiring distinction from other causes of coin lesions of the lung. A case is reported in which fine needle aspiration (FNA) biopsy was used to make the diagnosis of such a peripheral bronchial cyst. FNA produced an opaque opalescent fluid; cytologic study of the smears showed abundant bipolar birefringent needle-shaped crystals an a few macrophages. Neither special staining of some smears nor cultures of part of the aspirate revealed the presence of any organism. The cytologic diagnosis was confirmed by histologic examination of the subsequent resection specimen.