Diagnostic Problems (diagnostic + problem)

Distribution by Scientific Domains
Distribution within Medical Sciences

Selected Abstracts

Diagnostic Problems in a Patient With Amicrofilaremic Loa loa

Masahide Yoshikawa MD
We report a Japanese patient with loiasis who became infected in Cameroon. Despite the clinical history and laboratory data providing adequate evidence for suspecting loiasis, microfilariae were not detected in the blood. It is important to note that most infected travelers whose home countries are in nonendemic regions are amicrofilaremic. [source]

Experience in adverse events detection in an emergency department: Nature of events

James Hendrie
Abstract Objective:, The study was performed to determine the nature of adverse events in an ED. Methods:, The methodology has been described in the accompanying paper. Two by two tables were analysed using the two-tailed Fisher's exact test. A P -value of ,0.05 was considered significant. Statistical analysis was performed using MINITAB. Results:, One hundred and ninety-four events were detected, from a sample of 3222 patients. Except where specified, events with management causation ,3 were excluded. This excluded 24 events (12.4%) leaving 170 for analysis. Errors of commission occurred in 55% and omission in 45%. Errors of commission were significantly associated with prior events, errors of omission with ED events (P , 0.0001, respectively). The most common cause of events was drug reactions. 1.35% had a Naranjo score , 1, 0.54% , 4. Prior events were significantly associated with adverse drug reactions (P , 0.0001). Drug reactions were associated with a lower preventability score (P , 0.0001). Diagnostic issues were present in 1.2%. All three categories, that is diagnosis not considered, diagnosis within the differential and seriousness not appreciated were associated preventability ,4 (P , 0.0001, P , 0.02 and P , 0.004, respectively). Diagnostic problems were significantly associated with ED events (P , 0.0001). Conclusion:, In conclusion, the data demonstrate that events fall into two sets: prior events which are associated with errors of commission, drug reactions and lower preventability; and ED events which are associated with errors of omission, diagnostic issues and high preventability. [source]

Severe adenovirus bronchiolitis in children

MN Pichler
ABSTRACT. Severe adenoviral infections such as the necrotizing adenovirus bronchiolitis occur sporadically in infants. Ascertaining the etiologic role of adenovirus in cases of lung disease can pose a diagnostic problem. We present two cases of severe bronchiolitis in previously healthy children in which adenovirus could be shown to be the causing agent. Both children received immunosuppressive therapy with steroids and Cyclosporin for 3 mo and a course of intravenous Ribavirin for 10 d. The results were conflicting: despite therapy Patient 1 died due to respiratory failure, Patient 2 improved notably. Conclusions: Adenovirus can cause severe bronchiolitis in previously healthy children. Diagnosis may be difficult to achieve. The role of antiviral therapy in the treatment of adenoviral infections remains to be cleared. ,Adenovirus, bronchiolitis [source]

Cytological features of lipoblastoma: A report of three cases

Ph.D., V. Veronika Kloboves-Prevodnik M.D.
Abstract Lipoblastoma is a rare benign neoplasm occurring mostly in children under the age of three. Accurate preoperative diagnosis is mandatory for planning the treatment. The main aim of this study is to establish the cytological features of lipoblastoma and to answer the question: "Is cytological diagnosis of lipoblastoma reliable?" Preoperative fine-needle aspiration biopsy (FNAB) and tissue sections of three children treated for lipoblastoma at the Division of Pediatrics, University Medical Center, Ljubljana, Slovenia, in the period from 1997 to 2004 were reexamined. The Giemsa- and Papanicolaou-stained FNAB smears were moderately or poorly cellular and contained lipocytes, lipoblasts, and spindle cells in various proportions. The tumor cells were in clusters and tissue fragments or as single cells. Thin branching capillaries were observed in most of the clusters and tissue fragments. In the background, abundant myxoid extracellular material and naked oval nuclei were present. In the first case, the cytological diagnosis was benign soft-tissue tumor, in the second the diagnosis was not conclusive and the last case was correctly diagnosed as lipoblastoma. In the differential diagnosis of the second case, both lipoblastoma and liposarcoma were considered cytologically as well as histologically. At 7-yr follow-up, there is no evidence of the disease. Thus, we conclude that lipoblastoma with typical cytological features could be accurately diagnosed by FNAB. However, tumors containing numerous lipoblasts could pose a diagnostic problem. Diagn. Cytopathol. 2005;33:195,200. © 2005 Wiley-Liss, Inc. [source]

Primary non-Hodgkin lymphoma of the humerus following traumatic injury: case report

V. Stemberga
Abstract A case of primary non-Hodgkin lymphoma of the right humerus which occurred in a 21-year-old male patient after an impact to the right shoulder in a car accident in July 1983 is described. Seventeen years after the injury, due to a civil lawsuit, the biopsy material was revised. Immunohistochemical analysis showed CD20 and CD79a positivity on large pleomorphic cells, while small reactive lymphocytes were CD3, Bcl-2 and CD20 positive. Molecular analysis carried out with PCR revealed a monoclonal B-lymphocyte population. The diagnosis of diffuse large peripheral B cell lymphoma of the bone was confirmed. The present case concurs with the literature on primary bone lymphoma, in which the diagnostic problem, trauma-related presentation and an excellent prognosis of malignant tumour are emphasized. Copyright © 2003 John Wiley & Sons, Ltd. [source]

CA9 level in renal cyst fluid: a possible molecular diagnosis of malignant tumours

Guorong Li
Aims:, The preoperative differentiation of malignant renal cystic tumours from benign lesions is critical, and it remains a common diagnostic problem. The aim was to examine if the Carbonic anhydrase 9 (CA9) level in cyst fluid can provide a molecular diagnosis of malignant cyst. Methods and results:, Twenty-eight patients with a cystic renal mass were included. Fine-needle aspiration was performed to obtain the fluid. Postoperative pathology confirmed that there were 16 cystic renal cell carcinomas. Twelve benign cystic tumours were used as controls. One hundred microlitres of supernatant of cyst fluid was used to measure the CA9 protein level, which was measured by an enzyme-linked immunosorbent assay technique. CA9 was strongly detected and considered as positive in the cyst fluid of all 16 cystic malignant tumours (>1000 pg/ml), whereas its expression was negative in 11/12 benign cystic tumours (<300 pg/ml). The difference in percentages of positive CA9 between malignant and benign renal cystic tumours was significant (P < 0.001). Conclusion:, The fluid of malignant cystic renal tumours contains a high level of CA9 protein. The measurement of CA9 level in cyst fluid may be used as a molecular diagnosis for differentiation between malignant and benign renal cystic masses. [source]

False gingival enlargement as a diagnostic problem: a case report

L Kesi
Abstract:, The aim of the case report was to describe gingival enlargement in a patient who came to the Department of Oral Medicine and Periodontology at Ni, Dental Clinic. After anamnesis had been taken, and following clinical examination, laboratory blood analysis, radiological examination and pathological examination, it was established that gingival enlargement was a consequence of medicament injection. We are of the opinion that gingival enlargement was a consequence of sclerotic agent injection. [source]

Cuterebra cutaneous myiasis: case report and world literature review

Elizabeth Delshad MD
Background, Most cases of myiasis in North America are caused by fly larvae from South America or Africa, as these cases represent travelers returning from endemic regions. The etiology of creeping eruptions and furuncular lesions in North American patients who have no history of recent travel can therefore be a diagnostic problem. Among cases acquired in North America, Cuterebra species are the usual cause. Dermatologists and dermatopathologists should be aware that this unusual infestation may occur without a travel history. Method, Here we report a case of Cuterebra cutaneous myiasis acquired in New Jersey. A world literature review of articles on Cuterebra myiasis in humans, without age or year restriction, was performed. The pertinent references of those articles were also searched. Results, Most cases occur in the skin, as a furuncle. Sometimes a cutaneous creeping eruption is present. Children account for at least half of the reported cases. The infestations tend to occur in the late summer, and most frequently in the north-eastern and southern states of the United States. An overview of the clinical and histopathologic diagnostic features are presented. Conclusions, Though rare, myiasis can occur in North America without a travel history. Awareness of this entity, its epidemiologic patterns and diagnostic characteristics, can prevent lengthy delays in diagnosis and unnecessary treatments. [source]

Highly accelerated first-pass contrast-enhanced magnetic resonance angiography of the peripheral vasculature: Comparison of gadofosveset trisodium with gadopentetate dimeglumine contrast agents

Jeffrey H. Maki MD
Abstract Purpose: To investigate the blood pool agent gadofosveset trisodium for first-pass, dynamic peripheral contrast-enhanced magnetic resonance angiography (pMRA), and compare the results with a conventional gadolinium contrast agent. Materials and Methods: A total of 16 patients were imaged at 1.5T using a prototype peripheral vascular coil with high SENSE acceleration. Five received gadopentetate dimeglumine (,0.25 mmol/kg), and 11 received gadofosveset trisodium (five standard-dose 0.03 mmol/kg, six high-dose 0.05 mmol/kg). Quantitative contrast-enhancement and qualitative image quality evaluation was compared between agents and doses. Results: High-quality diagnostic images were uniformly obtained. The contrast ratio did not significantly differ between gadopentetate dimeglumine and high-dose gadofosveset trisodium, both of which were greater than standard-dose gadofosveset trisodium. High-dose gadofosveset trisodium was equivalent to gadopentetate dimeglumine in image quality and subjective vessel-to-background ratio, but significantly better for depicting small muscular arteries. Standard-dose gadofosveset trisodium showed equivalent image quality and small artery depiction with a slight but significant decrease in vessel-to-background ratio as compared to gadopentatate dimeglumine. Both gadofosveset trisodium doses trended toward more venous enhancement, but this was not a diagnostic problem. Conclusion: First-pass peripheral CE-MRA using gadofosveset trisodium is feasible, yielding image quality comparable to double to triple-dose gadopentetate dimeglumine. Increasing the gadofosveset trisodium dose to 0.05 mmol/kg yields further improvements. J. Magn. Reson. Imaging 2009;30:1085,1092. © 2009 Wiley-Liss, Inc. [source]

Age-related EBV-associated B-cell lymphoproliferative disorders: Diagnostic approach to a newly recognized clinicopathological entity

Yoshie Shimoyama
EBV is prevalent among healthy individuals, and is implicated in numerous reactive and neoplastic processes in the immune system. The authors originally identified a series of senile or age-related EBV-associated B-cell lymphoproliferative disorders (LPD) bearing a resemblance to immunodeficiency-associated ones, which may be associated with immune senescence in the elderly and which are now incorporated into the 2008 World Health Organization lymphoma classification as EBV-positive diffuse large B-cell lymphoma (DLBCL) of the elderly. This newly described disease is pathologically characterized by a proliferation of atypical large B cells including Reed,Sternberg-like cells with reactive components, which pose a diagnostic problem for pathologists. Clinically, this disease may present with lymphadenopathy, and is often extranodal, frequently involving the skin, gastrointestinal tract, or lung. Onset is usually after the age of 50; the median patient age is 70,79 years, and incidence continues to increase with age, providing additional support to the nosological term of EBV+ DLBCL of the elderly. These patients have a worse prognosis than those with EBV-negative DLBCL or EBV+ classical Hodgkin lymphoma (CHL). The aim of the present review was to summarize the clinicopathological profile of age-related EBV+ LPD and EBV+ Hodgkin lymphoma to facilitate diagnostic approach. [source]

A comparison between criteria for diagnosing atopic eczema in infants

H. Jøhnke
Summary Background, Epidemiological studies have shown different estimates of the frequency of atopic eczema (AE) in children. This may be explained by several factors including variations in the definition of AE, study design, age of study group, and the possibility of a changed perception of atopic diseases. The role of IgE sensitization in AE is a matter of debate. Objectives, To determine the prevalence and cumulative incidence of AE in a group of unselected infants followed prospectively from birth to 18 months of age using different diagnostic criteria; to evaluate the agreement between criteria; and to describe the association between atopic heredity and postnatal sensitization, respectively, and the development of AE according to the different diagnostic criteria. Methods, During a 1-year period a consecutive series of 1095 newborns and their parents were approached at the maternity ward at the Odense University Hospital, Denmark and a cohort of 562 newborns was established. Infants were examined and followed prospectively from birth and at 3, 6, 9, 12 and 18 months of age. AE was diagnosed using four different criteria, the Hanifin and Rajka criteria, the Schultz-Larsen criteria, the Danish Allergy Research Centre (DARC) criteria developed for this study and doctor-diagnosed visible eczema with typical morphology and atopic distribution. Additionally, the U.K. diagnostic criteria based on a questionnaire were used at 1 year of age. Agreement between the four criteria was analysed at each time point and over time, and agreement between the four criteria and the U.K. questionnaire criteria was analysed. Results, The cumulative 1-year prevalence of AE using the Hanifin and Rajka criteria was 9·8% (95% confidence interval, CI 7,13%), for the Schultz-Larsen criteria it was 7·5% (95% CI 5,10%), for the DARC criteria 8·2% (95% CI 6,11%), for visible eczema 12·2% (95% CI 9,16%) and for the U.K. criteria 7·5% (95% CI 5,10%). The pairwise agreement between criteria showed good agreement, with rates varying between 93% and 97% and kappa scores between 0·6 and 0·8. Agreement analysis of diagnoses between the four criteria demonstrated that cumulative incidences showed better agreement than point prevalence values. Conclusions, Agreement between different criteria for diagnosing AE was acceptable, but the mild cases constituted a diagnostic problem, although they were in the minority. Repeated examinations gave better agreement between diagnostic criteria than just one examination. Atopic heredity was less predictive for AE than sensitization to common food and inhalant allergens in early childhood. [source]

Congenital myopathies , a comprehensive update of recent advancements

M. C. Sharma
The congenital myopathies are relatively newly discovered compared with other categories of muscle diseases. Current research continues to clarify and classify the congenital myopathies. These pose a diagnostic problem and cannot be diagnosed by routine hematoxylin and eosin stain. A lot of special techniques are required to diagnose them correctly and it's various subtypes. The disease specific structural changes seen in the muscle are detected by enzyme histochemistry, immunohistochemistry and electron microscopy. Through this review we provide an up-to-date analysis of congenital myopathies including clinical and pathologic aspects. [source]

Pleomorphic adenoma with predominant plasmocytoid myoepithelial cells: A diagnostic pitfall in aspiration cytology.

Case report, review of the literature
Abstract Fine-needle aspiration (FNA) biopsy of the salivary gland is a sensitive and specific diagnostic tool. However, diagnostic problems are sometimes encountered in interpreting some cases, not only in differentiating benign from malignant cases but also in the specific classification of these neoplasms. We report a case of a pleomorphic adenoma with predominant plasmocytoid myoepithelial cells arising in minor salivary glands from the hard palate in a 78-year-old patient, which was falsely diagnosed as a carcinoma on liquid-based cytology (ThinPrep (TP)). The differential diagnosis of salivary gland tumors with predominant myoepithelial cells on FNA biopsy is discussed. Diagn. Cytopathol. 2009. © 2008 Wiley-Liss, Inc. [source]

B-type natriuretic peptide in the diagnosis of heart failure in the emergency department

Robert Chircop
Abstract B-type natriuretic peptide (BNP) is increasingly being used as a diagnostic marker in the diagnosis of heart failure. Here we evaluate the evidence base for its utility in the ED. Clinical trials suggest that it is more accurate than clinical acumen especially when emergency physicians have diagnostic problems. BNP appears more accurate than any clinical findings or radiological signs. In conjunction with considered clinical judgement, knowledge of its limitations and variable cut-off points, BNP can be of considerable utility to the emergency physician. [source]

Burkholderia anthina sp. nov. and Burkholderia pyrrocinia, two additional Burkholderia cepacia complex bacteria, may confound results of new molecular diagnostic tools

Peter Vandamme
Abstract Nineteen Burkholderia cepacia -like isolates of human and environmental origin could not be assigned to one of the seven currently established genomovars using recently developed molecular diagnostic tools for B. cepacia complex bacteria. Various genotypic and phenotypic characteristics were examined. The results of this polyphasic study allowed classification of the 19 isolates as an eighth B. cepacia complex genomovar (Burkholderia anthina sp. nov.) and to design tools for its identification in the diagnostic laboratory. In addition, new and published data for Burkholderia pyrrocinia indicated that this soil bacterium is also a member of the B. cepacia complex. This highlights another potential source for diagnostic problems with B. cepacia -like bacteria. [source]

Diagnostic difficulties in inflammatory bowel disease pathology

R K Yantiss
This review summarizes some of the common diagnostic problems encountered by pathologists when evaluating patients with chronic colitis and in whom inflammatory bowel disease (IBD) is either suspected or within the differential diagnosis. Both ulcerative colitis (UC) and Crohn's disease (CD) show characteristic, but non-specific, pathological features that may overlap and result in a diagnosis of ,indeterminate colitis' (IC). However, other reasons why pathologists may entertain a diagnosis of IC include failure to recognize or accept certain ,hardcore' histological features as indicative of CD, an attempt to classify cases of chronic colitis based on mucosal biopsy material or in the absence of adequate clinical and radiographic information, and the presence of other disease processes that mask, or mimic, IBD. In addition, some cases of UC may show unusual CD-like features, such as discontinuous or patchy disease, ileal inflammation, extracolonic inflammation, granulomatous inflammation in response to ruptured crypts, aphthous ulcers, or transmural inflammation. Furthermore, other forms of colitis, such as microscopic colitis, diverticulitis and diversion colitis may, on occasion, also show IBD-like changes. The clinical and pathological features that aid in the distinction between these entities, and others, are covered in detail in this review. [source]

The training effects of principle knowledge on fault diagnosis performance

Dong-Han Ham
In regard to the effectiveness of types of knowledge on fault diagnosis performance, many experimental studies showed that training with procedural knowledge (diagnostic rules) is very effective to enhance diagnosis performance. But the effects of training with principle knowledge (theoretical knowledge) have been controversial. Some studies went so far as to claim that principle knowledge is not useful for diagnosis. However, common experience suggests that understanding the principles of system dynamics is valuable in certain diagnostic situations. In this study, we conducted an experiment to investigate the value of principle knowledge in various fault situations. A context-free digital logic circuit including 41 gates of three basic types was simulated for the subjects to diagnose. The experimental results showed that instructing principle knowledge has positive effects that are dependent on the complexity of diagnostic problems. The observations also provide insights on how fault diagnosis benefits from principle knowledge. © 2007 Wiley Periodicals, Inc. Hum Factors Man 17: 263,282, 2007. [source]

2-D transmitral flows simulation by means of the immersed boundary method on unstructured grids

F. M. Denaro
Abstract Interaction between computational fluid dynamics and clinical researches recently allowed a deeper understanding of the physiology of complex phenomena involving cardio-vascular mechanisms. The aim of this paper is to develop a simplified numerical model based on the Immersed Boundary Method and to perform numerical simulations in order to study the cardiac diastolic phase during which the left ventricle is filled with blood flowing from the atrium throughout the mitral valve. As one of the diagnostic problems to be faced by clinicians is the lack of a univocal definition of the diastolic performance from the velocity measurements obtained by Eco,Doppler techniques, numerical simulations are supposed to provide an insight both into the physics of the diastole and into the interpretation of experimental data. An innovative application of the Immersed Boundary Method on unstructured grids is presented, fulfilling accuracy requirements related to the development of a thin boundary layer along the moving immersed boundary. It appears that this coupling between unstructured meshes and the Immersed Boundary Method is a promising technique when a wide range of spatial scales is involved together with a moving boundary. Numerical simulations are performed in a range of physiological parameters and a qualitative comparison with experimental data is presented, in order to demonstrate that, despite the simplified model, the main physiological characteristics of the diastole are well represented. Copyright © 2002 John Wiley & Sons, Ltd. [source]

Recording dental caries in archaeological human remains

Simon Hillson
Abstract Dental caries is an important condition to record in archaeological collections, but the way in which recording is carried out has a large effect on the way in which the results can be interpreted. In living populations, dental caries is a disease that shows a strong relationship with age. Both the nature of carious lesions and their frequency change with successive age groups from childhood to elderly adulthood. There is also a progression in the particular teeth in the dentition which are most commonly affected and, in general, the molars and premolars are involved much more frequently than the canines and incisors. Lower teeth are usually affected more than upper, although the condition usually involves the right and left sides fairly equally. In the high tooth wear rate populations represented by many archaeological and museum collections, there is a complex relationship between the form of lesions and the state of wear, which adds yet another range of factors to the changing pattern of caries with increasing age. In the same populations, chipping, fracture and anomalous abrasion of teeth are also common, and these contribute similarly to the distribution and forms of carious lesion observed. Amongst the living, the pattern of ante-mortem tooth loss is important in understanding caries and, in archaeological material, there is also the complicating factor of post-mortem tooth loss. Finally, there is the question of diagnosis. There are diagnostic problems even in epidemiological studies of living patients and, for archaeological specimens, diagenetic change and the variable preservation of different parts of the dentition add further complications. For all these reasons, it is difficult to define any one general index of dental caries to represent the complete dentition of each individual, which would be universally suitable for studying a full range of collections from archaeological sites or museums. Variation in the nature of collections, their preservation, tooth wear, and ante-mortem and post-mortem tooth loss mean that when such a general index appears to differ between sites, there could be many other reasons for this, in addition to any genuine differences in caries incidence and pattern that might have been present. It is suggested here that the best approach is instead to make comparisons separately for each tooth type, age group, sex, lesion type and potential lesion site on the tooth. Copyright © 2001 John Wiley & Sons, Ltd. [source]

THIS ARTICLE HAS BEEN RETRACTED CD34-reactive tumors of the skin.

An updated review of an ever-growing list of lesions
Over the past few years, a growing number of cutaneous tumors expressing CD34 is being reported. The list contains benign and malignant neoplasms as well as reactive and hamartomatous lesions of diverse lineages of differentiation, including fibroblastic, myofibroblastic, fibrohistiocytic, vascular, neural, adipocytic, smooth muscle, hematopoietic, melanocytic and epithelial. The more frequent diagnostic difficulties are found in spindle cell proliferations, mainly in those of the fibrocytic lineage. In part, this is because of the fact that in this area are, aside to well-defined entities, histologically and clinically diverse, recently reported cutaneous CD34-reactive lesions, whose definitions, limits and relationships are not completely established. The CD34 expression plays a key role in the differential diagnosis of some tumors, such as dermatofibrosarcoma protuberans, epithelioid sarcoma (ES) or pleomorphic hyalinizing angiectatic tumor of soft parts, with important therapeutic consequences. In others, as in desmoplastic trichilemmoma, it can help to resolve diagnostic problems in concrete cases. Finally, in many of the CD34-positive lesions, the diagnosis with the hematoxylin and eosin stain is straightforward. However, in all of them, the knowledge of the immunohistochemical profile contributes to our understanding of the cutaneous pathology. [source]

Immunoreactivity of CD99 in invasive malignant melanoma

Anne E. Wilkerson
Background:, CD99, also known as p30/32, is a glycoprotein product of the MIC2 gene. It was originally utilized in immunohistochemistry as a unique marker for Ewing sarcoma, other primitive neuroectodermal tumors, and subsequently in other tumors. Its expression in malignant melanoma (MM) has not been well documented, with just two isolated cases of MM recently reported. Recent studies have documented CD99 expression in a significant percentage of atypical fibroxanthomas (AFX), posing potential diagnostic problems in differentiating these two entities. As mistaking MM for AFX based on immunohistochemical staining pattern has significant consequences, we sought to determine the percentage of invasive MM in our archives that have this staining pattern. Methods:, Seventy-eight cases of invasive melanoma were retrieved from our files. Each case was stained with mouse anti-human CD99 and evaluated for membranous expression. Results:, Our evaluation revealed that 47 of 78 MM cases (60%) stain positive for CD99. Conclusion:, This study is the first to demonstrate, in a large series, the prevalence of CD99 expression in primary cutaneous melanoma. Additionally, this introduces in the histologic differential diagnosis of CD99 expressing dermal spindle cell lesions. [source]

Synovial, chondropathic, depositional: The radiological categories of arthritis.

A review
SUMMARY The accepted optimum logic frame for complex diagnostic problems is sequential hypothesis testing. The X-ray diagnosis of arthritis has now become sufficiently complex to make this the procedure of choice, but standard classifications of arthritis lack the discriminatory power needed for its effective deployment. This obstacle can be overcome if these standard classifications are replaced by a more discriminant classification based on radiologically identifiable discriminators. This classification divides arthritis into three groups: synovial, chondropathic and depositional. The initial categorization is usually made fairly simply from two or three markers, of which the most important is the site of any erosions present. Once categorized, the subsequent analysis can proceed in an approximately binary manner using the discriminators appropriate for that category. The use of this radiological classification simplifies the diagnostic approach, reduces the workload, and provides the algorithm needed for sequential hypothesis testing. [source]

A Clinicopathological Study of Postoperatively Upgraded Early Squamous-Cell Carcinoma of the Uterine Cervix

Dr. Manabu Yoshida
Abstract Objective: To investigate the clinicopathological backgrounds and diagnostic problems of postoperatively upgraded early squamous-cell carcinomas of the uterine cervix Patients and Methods: A total of 23 patients with postoperatively upgraded early squamous-cell carcinomas who were treated at the Saitama Cancer Center during the period of January 1, 1976, through December 31, 1991, were analyzed clinicopathologically. We reexamined the Pap smears (ectocervix, endocervix), colposcopic findings, punch biopsies, and histological findings of the operative specimens. All patients were divided into one of 3 groups based on each patient's main location of the carcinoma of the cervix: Type A: ectocervical type; Type B: endocervical type; or Type C: combined (ectocervical and endocervical) type. Clinical staging of the uterine cervical carcinomas was done in accordance with the 1994 FIGO rules. Results: The numbers of patients were: Type A, 2; Type B, 10; Type C, 11. Of the 23 patients, 21 (91.3%) had lesions in the endocervical portion at least. Fifteen patients (65.2%) complained of atypical vaginal bleeding. Colposcopic findings suggesting an invasive carcinoma appeared for only 6 patients (26.1%). A cytological reevaluation revealed that the endocervical findings were much stronger than the ectocervical ones in 10 (66.7%) of 15 patients whose smears of both sites could be rechecked. Conclusions: Even if the preoperative diagnosis was early cervical carcinoma, CIS or Stage Ia1, the signs of atypical vaginal bleeding suggested that the final clinical stage would be upgraded after an operation. Furthermore, when the endocervical cytological findings were much more exaggerated than the ectocervical ones, the possibility of deeply invaded endocervical lesions should be considered. [source]

Surgical treatment of adrenal metastasis from renal cell carcinoma: a single-centre experience of 45 patients

OBJECTIVE To report, in a retrospective study, the diagnostic problems and oncological results of surgery in patients with either synchronous or metachronous adrenal metastasis, which are uncommon in renal cancer, at 2,10% of patients. PATIENTS AND METHODS Of 1179 patients treated for renal cancer between 1987 and 2003, 914 had renal surgery with concomitant ipsilateral adrenalectomy (routinely in 875 and for abnormal findings on computed tomography, CT, in 39) and 15 contralateral adrenalectomy (all after suspicious findings on CT). During the follow-up after renal surgery, another 14 patients had adrenalectomy for CT evidence of an abnormal adrenal gland, contralateral to the previous renal tumour in 12 and bilaterally in two. RESULTS Of 914 ipsilateral adrenal glands removed during renal surgery, 854 (93.5%) were normal on pathological examination, 28 (3%) had a benign pathology, six (0.8%) were directly infiltrated by the tumour and 26 (2.7%) were metastatic. For both benign and metastatic ipsilateral adrenal pathology, CT had sensitivity, specificity and positive/negative predictive values of 47%, 99%, 73% and 96%, respectively. Of 29 contralateral glands removed because of suspicious CT findings (15 at diagnosis of renal cancer, 14 during the follow-up) there was no abnormality in one (3.4%), a benign pathology in seven (24%) and a metastasis in 21 (72%). Thus there were 32 synchronous (incidence 2.7%; ipsilateral to the renal tumour in 24, contralateral in six and bilateral in two), and 13 metachronous adrenal metastases (incidence 1.0%; contralateral in 11 and bilateral in two). The metachronous metastases were diagnosed at a mean (range) interval of 30.6 (8,73) months after renal surgery. No ipsilateral adrenal metastases were discovered at diagnosis or during the follow-up in the 382 patients with an organ-confined renal tumour of <4 cm in diameter. Twenty-seven patients with an isolated adrenal metastasis (synchronous in 14, metachronous in 13) had statistically significantly (P < 0.001) better survival than the 18 (all synchronous) with multiple sites of metastatic disease. In particular, there was long-term survival (mean 83 months) in 10 patients with an isolated adrenal metastasis. CONCLUSION Sparing the ipsilateral adrenal is advisable only for organ-confined renal tumours of <4 cm in diameter; clinical local staging of renal cancer is the best predictor of the risk of adrenal metastasis. Conversely, CT had good diagnostic ability for the contralateral adrenal gland, especially during the follow-up. Some patients with isolated adrenal metastasis could be treated by metastasectomy, with long-term survival free of disease and confirming that, even if in a few and unselectable patients, removing all the neoplastic bulk can be curative. Nevertheless, the high rate of relapse underlines the need for an effective systemic therapy, and more so for widespread metastatic disease that currently cannot be cured. [source]

Genetic and epigenetic alterations in the differential diagnosis of malignant melanoma and spitzoid lesion

M. Takata
Summary Background, The histopathological differentiation of malignant melanoma and Spitz naevus often presents diagnostic problems. Objectives, We aimed to find out applicable diagnostic parameters other than routine pathology. Methods, The cases included conventional melanomas and Spitz naevi as well as atypical spitzoid lesions that had posed diagnostic difficulties. We examined hotspots of mutation in the BRAF, NRAS and HRAS genes by polymerase chain reaction-based direct sequencing. We also analysed DNA copy number aberrations and the methylation of CpG sequences in several cancer-related genes by utilizing a novel methylation-specific multiplex ligation-dependent probe amplification method. Results, Twenty three of 24 conventional melanomas showed at least one of the genetic and epigenetic alterations examined, although one acral melanoma did not show any alteration. By sharp contrast, 12 Spitz naevi with an unambiguous histopathology showed no or few chromosomal aberrations, no oncogene mutations and no methylation of CpG sequences. Of the 16 ambiguous spitzoid lesions, most of which were designated atypical Spitz tumour by one of the authors, all but one showed no mutations, no methylations and few copy number aberrations. However, three tumours showed copy number loss of the cyclin-dependent kinase inhibitor 2A gene (CDKN2A), an alteration observed frequently in melanomas but not found in conventional Spitz naevi. These results show that, although most atypical Spitz tumours do not differ from conventional Spitz naevi showing virtually no genetic and epigenetic aberrations, some cases may have chromosomal aberrations that include copy number loss of the CDKN2A gene. Conclusions, Genetic and epigenetic analyses may be useful as an additional diagnostic tool to distinguish between melanoma and Spitz naevus, and may help to define subgroups in atypical Spitz tumours. [source]

A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with ,0 -thalassaemia

Chi-Chiu So
Summary Anti-Lepore haemoglobins (Hb) are rare ,, fusion variants that arise from non-homologous crossover during meiosis, resulting in a ,,,,,, configuration. A novel anti-Lepore mutation (anti-Lepore Hong Kong) was found in two Chinese families with raised Hb A2. Direct sequencing revealed a crossover within a 54-bp region spanning the junction of cap site (CAP) and exon 1, which predicted the production of normal , -globin. Determination of ,/, -mRNA ratios by quantitative real-time polymerase chain reaction demonstrated downregulation of the , gene in cis due to the interposed ,, fusion gene. Although heterozygotes have normal red cell indices and are clinically silent, compound heterozygotes with ,0 mutation in trans produce a mild thalassaemia intermedia phenotype with a markedly raised Hb A2 level that may mimic clinically mild Hb E- ,+ -thalassaemia. Awareness of the presence of anti-Lepore Hong Kong will help to resolve diagnostic problems in regions with significant prevalence of globin disorders. [source]