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Misdiagnosis
Selected AbstractsPitfalls Leading to Misdiagnosis of a Normally Functioning Prosthetic Aortic Valve as StenoticECHOCARDIOGRAPHY, Issue 7 2007John Barbetseas M.D. No abstract is available for this article. [source] Myoepithelioma of the soft tissue of the head and neck: a case report and review of the literatureHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 5 2004Antonio Galvao Neto MD Abstract Background. Extraglandular myoepitheliomas are neoplasms that seldom occur in the soft tissue of the head and neck region. Misdiagnosis of these neoplasms as more aggressive tumors can lead to unnecessary treatment. Methods. We describe a myoepithelioma of cervical soft tissue. The histopathology of the tumor, its immunophenotype, its differential diagnosis, and a review of the literature are presented. Results. Histopathologically, the tumor was composed of epithelioid cells with eosinophilic cytoplasm and eccentric nuclei arranged in cords and files. On immunohistochemical analysis, the cells expressed cytokeratin 14, calponin, glial fibrillary acid protein, and p63 and showed focal positivity for S-100 protein. Together, these markers identified the cells as myoepithelial type. A literature review identified only five cases of myoepithelioma in the soft tissue of the head and neck region in which detailed clinical information was provided. Conclusions. Myoepitheliomas can have cells with variable morphology arranged in different histologic patterns. Immunohistochemical analysis is crucial for unequivocal diagnosis when myoepitheliomas occur in extraglandular locations. © 2004 Wiley Periodicals, Inc. Head Neck26: 470,473, 2004 [source] Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis,,HUMAN MUTATION, Issue 5 2007Susan J Ramus Abstract Misdiagnosis of a germline mutation associated with an inherited disease syndrome can have serious implications for the clinical management of patients. A false negative diagnosis (mutation missed by genetic screening) limits decision making about intervention strategies within families. More serious is the consequence of a false positive diagnosis (genetic test suggesting a mutation is present when it is not). This could lead to an individual, falsely diagnosed as a mutation carrier, undergoing unnecessary clinical intervention, possibly involving risk-reducing surgery. As part of screening 283 ovarian cancer families for BRCA1 mutations, we used two different methods (mutation specific PCR and multiplex ligation-dependant probe amplification) to screen for a known rearrangement mutation L78833.1:g.44369_50449dup (ins6kbEx13). We found false positive and false negative results in several families. We then tested 61 known carriers or non-carriers from an epidemiological study of BRCA1 and BRCA2 mutation carriers (the EMBRACE study). These data highlight the need for caution when interpreting analyses of the ins6kbEx13 mutation and similar mutations, where characterising the exact sequence alteration for a deleterious mutation is not a part of the routine genetic test. © 2007 Wiley-Liss, Inc. [source] Clonal analysis of cutaneous fibrous histiocytoma (dermatofibroma)JOURNAL OF CUTANEOUS PATHOLOGY, Issue 7 2002Pei Hui Background:, Dermatofibroma (DF) or cutaneous fibrous histiocytoma is a common benign fibrohistiocytic lesion involving the dermis and subcutis. Histologically, it is subclassified into fibroblastic and histiocytoid forms. Its histogenesis is controversial. While often referred to as a neoplastic process, definite evidence of neoplasia in DF has been lacking. Alternatively, some authorities have suggested that DF is a fibrosing inflammatory process. Diagnostically, the most important question faced is the distinction from dermatofibrosarcoma protuberans (DFSP). Misdiagnosis can occur, as the early phase of DFSP can simulate DF, particularly the deep and cellular forms of DF. Methods:, To address this issue, and to investigate whether DF is in fact a neoplasm, we evaluated 31 examples of DF of various histological types in female patients and assessed clonality by analyzing X-chromosome inactivation as indicated by the methylation status of the androgen receptor gene (HUMARA). Representative cases of DFSP were analyzed for comparison. Results:, Among the selected 31 cases of DF, 24 cases provided intact DNA and informative polymorphism at the AR alleles, including one case of recurrent deep fibrous histiocytoma. Among these 24 cases, randomly inactivated AR alleles were observed in 17 cases including a deep, recurrent fibroblastic DF. A non-random inactivation at AR alleles was observed in seven cases, of which six cases showed either typical histiocytoid form of DF (four cases) or mixed cell types with predominant histiocytoid cell type (two cases). One fibroblastic DF also showed a monoclonal pattern. HUMARA analysis of DFSP revealed non-random inactivation of polymorphic AR alleles. Conclusions:, These findings suggest that DF is a heterogeneous process. Monoclonal genotype was found in DFs with histiocytoid or mixed type with predominant histiocytoid features, suggesting that histiocytoid cells probably represent the neoplastic component. The fibroblastic form of DF may represent a reactive fibroblastic proliferation. Alternatively, it may represent a true neoplasm whose neoplastic cell type has been obscured by prominent reactive fibroblastic component. [source] Unipolar or bipolar depression?JOURNAL OF THE AMERICAN ACADEMY OF NURSE PRACTITIONERS, Issue 4 2007Improving diagnostic confidence with the adult patient Abstract Purpose: The purpose of this article is to inform advanced practice nurses in primary care about the differential diagnosis of bipolar disorder (BD), when depression is identified in the adult patient. Data sources: Selected research and clinical articles. Conclusions: Adult patients with BD are much more likely to seek treatment for depression than for mania or hypomania. Recognition of BD is improved when the primary care clinician is alerted to the factors indicating bipolarity and utilizes available screening tools. Implications for practice: Misdiagnosis of a bipolar spectrum disorder delays proper treatment and precludes adequate management both pharmacologically and psychotherapeutically. [source] The most common challenges in melanoma diagnosis and how to avoid themAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2009Ashfaq A Marghoob SUMMARY Due to its particularly lethal nature and tendency to affect relatively young individuals, the timely diagnosis of melanoma remains of paramount importance for clinicians and their patients. Unfortunately, melanomas can mimic benign lesions that are overwhelmingly more common in the population than are melanomas, and misdiagnosis or delay in diagnosis of melanoma can occur. Misdiagnosis of melanoma serves as one of the most common causes for malpractice litigation brought against medical practitioners. In this review we describe seven clinical scenarios that represent challenges in melanoma diagnosis and discuss potential strategies for avoiding the errors that commonly give rise to those scenarios. [source] Pathways to care for patients with bipolar disorderBIPOLAR DISORDERS, Issue 3 2005Dinesh Bhugra Bipolar disorder is a chronic, debilitating psychiatric illness with serious ramifications for patients, their families, and society. Despite the availability of effective treatments, this disease often goes untreated due to medical, financial, legal/governmental, and cultural barriers. In this review we explore possible reasons for this problem. Misdiagnosis of bipolar disorders is a common medical barrier. One pathway to care for individuals with bipolar disorder is through referral from primary care, but primary care physicians generally have not received special training in the recognition and management of bipolar disorder. This often leads to diagnostic delays or errors, which prevents timely ,filtering' of patients into specialized care. Using data bases we explored these pathways. Legislation in the USA, such as the Emergency Medical Treatment and Active Labor Act (EMTALA), designed to ensure access to inpatient mental health care, has instead given hospitals financial incentives to limit inpatient mental health care capacities. Reimbursement of mental health care expenses is a significant issue impacting a patient's ability to gain access to care, as bipolar disorder is a costly disease to treat. Improving access to care among the bipolar community will require multilateral strategies to influence the actions and attitudes of patients, communities, providers, health care systems, and state/national governments. In other cultures, barriers to care differ according to a number of factors such as type of services, explanatory models of illness, misdiagnosis and perceptions of care givers. It is essential that clinicians are aware of pathways and barriers so that appropriate and accessible care can be provided. [source] Misdiagnosis of epileptic and non-epileptic seizures in a neurological intensive care unitACTA NEUROLOGICA SCANDINAVICA, Issue 3 2010F. Boesebeck Boesebeck F, Freermann S, Kellinghaus C, Evers S. Misdiagnosis of epileptic and non-epileptic seizures in a neurological intensive care unit. Acta Neurol Scand: 122: 189,195. © 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Objective,,, The etiological misinterpretation of paroxysmal neurological symptoms frequently causes a delayed treatment or an inappropriate utilization of ICU-capacities. Methods,,, In this study, the data of 208 patients admitted to a neurological ICU because of acute transient neurological deficits, loss of consciousness or unclear motor phenomena were retrospectively analyzed. The initial emergency room diagnosis was compared to the final diagnosis and the rate of misdiagnosis was related to the patients' history and diagnostic data. Results,,, In 13.9%, the emergency room diagnosis of epileptic seizures turned out to be incorrect, whereas in 15.6%, the final diagnosis of epileptic seizures was missed in the emergency room. Factors that were significantly correlated to missing the seizure diagnosis were (i) no prior history of epilepsy, (ii) old age, (iii) multi-morbidity, (iv) pathologic CT-scans demonstrating cerebrovascular lesions, (v) seizure description by non-professionals, (vi) predominantly negative seizure phenomena (aphasia, loss of consciousness, paresis), (vii) lack of tongue-bite lesions. [source] Discoid lupus erythematosus of the eyelids associated with staphylococcal blepharitis and Meibomian gland dysfunctionCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 1 2006P. Ena Summary Lower eyelid involvement occurs in 6% of patients with discoid lupus erythematosus (DLE). Eyelid lesions are rarely the initial manifestation of DLE. We describe a 25-year-old woman presenting with discoid lesions of the lower eyelids, staphylococcal blepharitis and Meibomian gland dysfunction, who later developed a discoid lesion on the chin. Histopathological and immunofluorescence studies of a biopsy specimen from this lesion established the diagnosis of DLE. We are unaware of any previously reported cases of DLE presenting with discoid eyelid lesions associated with staphylococcal blepharitis and Meibomian gland dysfunction. DLE should be considered as a differential diagnosis in chronic blepharitis that persists despite usual medical management and eyelid hygiene. Misdiagnosis may lead to eyelid margin deformities, necessitate a complicated full-thickness biopsy, and delay diagnosis of systemic lupus. [source] Pitfalls in the Diagnosis of Cerebellar InfarctionACADEMIC EMERGENCY MEDICINE, Issue 1 2007Sean I. Savitz MD Abstract Background Cerebellar infarctions are an important cause of neurologic disease. Failure to recognize and rapidly diagnose cerebellar infarction may lead to serious morbidity and mortality due to hydrocephalus and brain stem infarction. Objectives To identify sources of preventable medical errors, the authors obtained pilot data on cerebellar ischemic strokes that were initially misdiagnosed in the emergency department. Methods Fifteen cases of misdiagnosed cerebellar infarctions were collected, all seen, or reviewed by the authors during a five-year period. For each patient, they report the presenting symptoms, the findings on neurologic examination performed in the emergency department, specific areas of the examination not performed or documented, diagnostic testing, the follow-up course after misdiagnosis, and outcome. The different types of errors leading to misdiagnosis are categorized. Results Half of the patients were younger than 50 years and presented with headache and dizziness. All patients had either incomplete or poorly documented neurologic examinations. Almost all patients had a computed tomographic scan of the head interpreted as normal, and most of these patients underwent subsequent magnetic resonance imaging showing cerebellar infarction. The initial incorrect diagnoses included migraine, toxic encephalopathy, gastritis, meningitis, myocardial infarction, and polyneuropathy. The overall mortality in this patient cohort was 40%. Among the survivors, about 50% had disabling deficits. Pitfalls leading to misdiagnosis involved the clinical evaluation, diagnostic testing, and establishing a diagnosis and disposition. Conclusions This study demonstrates how the diagnosis of cerebellar infarction can be missed or delayed in patients presenting to the emergency department. [source] Histological alterations following thyroid fine needle biopsy: A systematic reviewDIAGNOSTIC CYTOPATHOLOGY, Issue 6 2009M.Sc., Stergios A. Polyzos M.D. Abstract Thyroid fine-needle biopsy (FNB) is a simple, reliable, inexpensive, and generally safe diagnostic procedure in the management of thyroid nodules. However, the trauma inflicted by the needle may lead to various degrees of histological alterations, observed in histological specimens, if thyroidectomy follows. Post-FNB histological alterations of the thyroid (PFHAT) can generally be divided into acute and chronic. Hemorrhage is the most common acute and fibrosis the most common chronic PFHAT. Some of the PFHAT causes problems in histological assessment, making diagnosis difficult, even leading to misdiagnosis. In this review, we tried to collect and summarize all reported PFHAT cases and studies, aiming to make involved physicians, cytologists, and pathologists aware of the spectrum of PFHAT and to provide information to help in differential diagnosis and to avoid misdiagnoses, which could lead to unnecessary radical surgery and/or adjuvant therapy. Diagn. Cytopathol. 2009. © 2009 Wiley-Liss, Inc. [source] Liesegang rings in fine needle aspirate of breast cysts with predominance of apocrine cells: A study of 14 casesDIAGNOSTIC CYTOPATHOLOGY, Issue 10 2008F.I.A.C., Raj K. Gupta M.D. Abstract Fine needle aspirate (FNA) from 14 cases (age range 17,84 years), with Liesegang rings (LR's) in breast cysts seen over a period of 26 years comprised the material of this study from more than 38,000 FNA's of the breast which had been done for a variety of breast lesions. In six of the 14 cases, the aspirate was obtained under ultrasound guidance whereas in the remaining cases it was collected from a palpable lesion. The aspiration was performed using a 22 gauge needle and the syringe and needle contents were washed in a cytology container with 30% ethyl alcohol in physiologic saline. The cytologic preparations from half of the sample were made on a 5 micron Schleicher and Schuell filter and stained by Papanicolaou method whereas from the remainder of the sample a cell block was made and sections cut, stained with hematoxylin-eosin (H&E) and used for immunohistochemical study. Filter preparations and cell blocks revealed cyanophilic, spherical, ring-like structures of various sizes and shape mostly with double walls, and striations with amorphous material in the lumen and under polarized light were nonrefractile. Seen also were several apocrine cells and some macrophages and the LR's were found to be negative on immunostains for EMA and CK, and a panel of other special stains (Table I). Since LR's can be mistaken for ova, larvae, or parasites, it is important to be aware of their potential presence in aspirate samples of breast cysts to avoid a misdiagnosis. The exact mechanism of formation of LR's is not fully understood and certain views as proposed are discussed in this presentation. Diagn. Cytopathol. 2008;36:701,704. © 2008 Wiley-Liss, Inc. [source] Fine-needle aspiration biopsy of benign adenomyoepithelioma of the breast: Radiologic and pathologic correlation in four casesDIAGNOSTIC CYTOPATHOLOGY, Issue 11 2007Cecilia L. Mercado M.D. Abstract Benign adenomyoepithelioma of the breast is a rare tumor in which the cytologic findings have been described in only a few cases. While benign, the imaging and pathologic features may be mistaken for malignancy. We report the aspiration biopsy findings in four cases of adenomyoepithelioma with radiologic and histologic correlation. Cytopathologists should familiarize themselves with this entity to avoid a misdiagnosis of carcinoma. Diagn. Cytopathol. 2007;35:690,694. © 2007 Wiley-Liss, Inc. [source] Infarcted intraductal papilloma of the breast: Cytologic features with stage of infarctionDIAGNOSTIC CYTOPATHOLOGY, Issue 5 2006Akinori Ishihara M.D., F.I.A.C., Ph.D. Abstract Fine-needle aspiration cytology (FNAC) is being employed with increasing frequency for the pre-operative diagnostic workup of breast lesions. Although most cases show morphologic features very characteristic of specific entities, rare lesions with infarcted breast can cause problems in interpretation. We present cytologic findings in seven cases of an infarcted intraductal papilloma of the breast (IDPB) that was diagnosed by FNAC, and we also report the correlation of cytological features and stages of infarcted IDPB. In the early stage of infarction, numerous degenerative cells and necrotic debris were demonstrated. Isolated degenerative cells showed columnar, spindle, polygonal and fiber-like cells, with coagulated and smudged nuclei. Ghost cells were also seen. Extensive necrosis was demonstrated with a few sheets of ductal cells in the mid-stage of infarction. In the late stage of infarction, clusters of fibroblasts, ductal cells and necrotic debris were found. Knowledge of the characteristic cytologic pattern in different stages of infarcted IDPB may be helpful to suggest the probable pre-operative diagnosis of those lesions. Familiarity with this entity is important in preventing misdiagnosis of malignancy. Diagn. Cytopathol. 2006;34:373,376. © 2006 Wiley-Liss, Inc. [source] PNET-like features of synovial sarcoma of the lung: A pitfall in the cytologic diagnosis of soft-tissue tumorsDIAGNOSTIC CYTOPATHOLOGY, Issue 4 2001Pascale Hummel M.D. Abstract Fine-needle aspiration (FNA) cytology of soft-tissue tumors is evolving. As more experience is gained, we are becoming aware of potential pitfalls. We describe 2 cases of synovial sarcoma of the lung, primary and metastatic, in patients who had FNA biopsy performed on a lung mass. The cytologic smears showed extremely cellular groups of malignant small round cells, intersected by small blood vessels, with numerous loose single cells, in a background of macrophages and mature lymphocytes. The tumors displayed monomorphic cells forming rosettes and displaying occasional mitoses. A diagnosis of neuroendocrine tumor/primitive neuroepithelial tumor (PNET) was suspected. Furthermore, this suspicion was supported by immunohistochemical stains, which showed positivity for a neuroendocrine marker, Leu 7 (case 1), and for a neural marker, CD 99 (O 13 or HBA 71) (both cases); and negativity for cytokeratins (case 1). The resection specimen of case 1 had mostly tightly packed small round cells, with occasional rosettes, similar to the FNA biopsy, and focal areas composed of spindle cells, organized in a focal fibrosarcoma-like and hemangiopericytoma-like pattern. A balanced translocation between chromosomes X and 18, demonstrated by both karyotyping and fluorescent in situ hybridization (FISH), enabled us to make a diagnosis of synovial sarcoma, which was histologically classified as poorly differentiated. Case 2 was a metastatic biphasic synovial sarcoma of the arm, with a prominent epithelial component. Synovial sarcoma, when composed mainly of small round cells on cytologic smears, is a great mimicker of neuroendocrine/PNET tumors, with light microscopic and immunohistochemical overlap. Awareness of this potential pitfall may aid in preventing a misdiagnosis. Its recognition is of major concern, especially for the poorly differentiated variant, because it is associated with a worse prognosis. Diagn. Cytopathol. 24:283,288, 2001. © 2001 Wiley-Liss, Inc. [source] RECENT PROGRESS IN ENDOSCOPY-BASED DIAGNOSIS OF HELICOBACTER PYLORI INFECTIONDIGESTIVE ENDOSCOPY, Issue 1 2001Tadashi Sato Numerous invasive and non-invasive tests are available in the detection of Helicobacter pylori. Endoscopy-based tests that include rapid urease test, histological examination and culture are important generally in the assessment of H. pylori status before eradication therapy. Recently, several new endoscopy-based diagnostic methods have been developed aiming at rapid and accurate detection of the organisms. It would be possible to diagnose H. pylori infection in treated patients by using these new highly sensitive tests. Although the diagnosis of H. pylori infection itself is possible by using non-invasive diagnostic tests, endoscopy-based tests provide not only the diagnosis of the organisms, but also the exclusive information such as treatment indications and the susceptibility for the antimicrobial drugs. Recently, new triple therapy including clarithromycin has been widely performed in Japan. Along with an increase in the prevalence of the antibiotic-resistant strains, culture may become a more important diagnostic method in the future. The inappropriate application of the tests may increase the potential risk of the misdiagnosis and the treatment failures. The diagnostic method should be selected by taking into account the circumstances in which a diagnosis is to be performed. [source] Measurement error: implications for diagnosis and discrepancy models of developmental dyslexiaDYSLEXIA, Issue 3 2005Sue M. Cotton Abstract The diagnosis of developmental dyslexia (DD) is reliant on a discrepancy between intellectual functioning and reading achievement. Discrepancy-based formulae have frequently been employed to establish the significance of the difference between ,intelligence' and ,actual' reading achievement. These formulae, however, often fail to take into consideration test reliability and the error associated with a single test score. This paper provides an illustration of the potential effects that test reliability and measurement error can have on the diagnosis of dyslexia, with particular reference to discrepancy models. The roles of reliability and standard error of measurement (SEM) in classic test theory are also briefly reviewed. This is followed by illustrations of how SEM and test reliability can aid with the interpretation of a simple discrepancy-based formula of DD. It is proposed that a lack of consideration of test theory in the use of discrepancy-based models of DD can lead to misdiagnosis (both false positives and false negatives). Further, misdiagnosis in research samples affects reproducibility and generalizability of findings. This in turn, may explain current inconsistencies in research on the perceptual, sensory, and motor correlates of dyslexia. Copyright © 2005 John Wiley & Sons, Ltd. [source] Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophyELECTROPHORESIS, Issue 13 2008Chun-Chi Wang Abstract We present the first CE method for the separation and quantification of SMN1 and SMN2 genes. Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder deleted or mutated in SMN1 gene and retained at least one copy of SMN2 gene. However, these two genes are highly homologous, differentiation and quantification of SMN1 and SMN2 are therefore required in diagnosis to identify SMA patients and carriers. We developed a fluorescence-labeled conformation-sensitive CE method to quantitatively analyze PCR products covering the variable position in the SMN1/SMN2 genes using a copolymer solution composed of hydroxyethylcellulose and hydroxypropylcellulose. The DNA samples included 24 SMA patients, 52 parents of SMA patients (obligatory carriers), and 255 controls. Those 331 samples were blind analyzed to evaluate the method, and the results compared with those obtained using denaturing HPLC (DHPLC). Validation of accuracy was performed by comparing the results with those of DHPLC. Nine of total samples showed different results. Diagnosis of one fetus DNA among them was related to abortion or not, which was further confirmed by gel electrophoresis and DNA sequencing. Our method showed good coincidence with them, and proved the misdiagnosis of DHPLC. This simple and reliable CE method is a powerful tool for clinical genotyping of large populations to detect carriers and SMA patients. [source] Usefulness of the Head-Upright Tilt Test for Distinguishing Syncope and Epilepsy in ChildrenEPILEPSIA, Issue 6 2001J. Eirís-Puñal Summary: ,Purpose: Episodic loss of consciousness in children, whether or not associated with hypertonia or short-duration clonic movements, presents a diagnostic challenge to the pediatrician and child neurologist. We provide some evidence of the usefulness of the head-upright tilt test for investigating the causes of transient loss of consciousness in children, and for distinguishing between syncope, convulsive syncope, and epilepsy. Methods: We studied nine children previously diagnosed as epileptic on the basis of compatible clinical events and epileptiform findings in routine EEGs who were treated over the long term with antiepileptic drugs, but whose clinical records suggested syncope or convulsive syncope rather than epilepsy on reevaluation. All subjects underwent head-upright tilt testing. Results: The tilt-test result was positive in all nine cases, with the patients reporting the same symptoms as in the previously considered epileptic attacks. Conclusions: Inadequate histories and misuse/overinterpretation of EEG results often lead to misdiagnosis of epilepsy in children. The head-upright tilt test is a useful and reliable diagnostic technique, allowing syncopal events to be induced and evaluated under controlled conditions. In a subset of patients, it may help to distinguish epilepsy from simple or convulsive syncope. [source] Transient response of cardiac angiosarcoma to paclitaxelEUROPEAN JOURNAL OF CANCER CARE, Issue 5 2010E. CASTILLA md CASTILLA E., PASCUAL I., RONCALÉS F., AGUIRRE E. & RÍO A. DEL (2010) European Journal of Cancer Care19, 699,700 Transient response of cardiac angiosarcoma to paclitaxel Malignant tumours of the heart are a group of tumours with low incidence but very high mortality. Delays in diagnosis are common because of their multiple forms of presentation, and 80% present with metastases, further reducing the possibility for cure. We present here the case of a patient with primary cardiac angiosarcoma that highlights the misdiagnosis at clinical presentation, current diagnostic modalities and a possible new treatment using paclitaxel for cardiac angiosarcoma. [source] Gemcitabine induced digital ischaemia and necrosisEUROPEAN JOURNAL OF CANCER CARE, Issue 3 2010A. HOLSTEIN md HOLSTEIN A., BÄTGE R. & EGBERTS E.-H. (2010) European Journal of Cancer Care19, 408,409 Gemcitabine induced digital ischaemia and necrosis A 70-year-old woman presented with a 7-day history of severe pain, paresthesia, oedema, acrocyanosis and punctate haemorrhagic lesions on her fingertips. The complaints began 2 days after the second cycle of a first-line chemotherapy consisting of cisplatin or carboplatin, and gemcitabine due to advanced urothelial carcinoma. At the fingertips of both hands, haemorrhagic and partly ulcerative lesions were found; these were attributed to vascular toxicity of gemcitabine. Therapeutically sympathicolysis by bilateral blockade of the brachial plexus was performed, accompanied by intravenous administration of the prostacyclin analog iloprost, fractionated heparin subcutaneously and oral therapy with corticosteroids and aspirin. Digital amputation could be avoided. Acral ischemia is a rare but probably underreported adverse effect of gemcitabine therapy and a potential source of misdiagnosis. [source] Consequences of misdiagnosis of lymphomatoid papulosisEUROPEAN JOURNAL OF CANCER CARE, Issue 2 2006S. LAUBE mrcp We report two patients with lymphomatoid papulosis (LyP), who were initially diagnosed as systemic T-cell lymphoma. The patients presented with recurrent self-healing cutaneous lesions and skin biopsies showed a lymphocytic infiltrate with malignant features. Clinico-pathological correlation of findings was not performed and results of staging investigations were misinterpreted. Consequently, both patients were unnecessarily treated with multi-agent chemotherapy, radiotherapy and stem cell/bone marrow transplants and sustained long-term adverse effects. The clinical and histological features of LyP are described and appropriate management discussed in detail. Factors leading to the unnecessary treatment of both patients are examined and several learning points highlighted such as the importance of a multidisciplinary approach. [source] Desmoplastic melanoma of the lip,HEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 6 2002Amy C. Hessel MD Abstract Background This retrospective study looks at the prognosis of desmoplastic melanoma of the lip, correlating it with the clinical course, treatment, and patterns of failure. Method Twenty-two patients with desmoplastic melanoma of the lip were seen at the University of Texas M. D. Anderson Cancer Center from 1965 to 1998. Results Three disease groups: (I) untreated tumor (3 patients), (II) excisional scar (10 patients), and (III) locoregional recurrence (9 patients). Group I had two cures and one failure. In group II six had no recurrences, and there were four failures. In group III, all patients failed. Ten patients (45%) had no evidence of disease, of which three (30%) had an initial misdiagnosis. Twelve patients (55%) died of disease or were living with disease, of which eight (67%) had an initial misdiagnosis. Conclusions Desmoplastic melanoma of the lip is often misdiagnosed and, therefore, inappropriately treated with multiple recurrences and poor prognosis. Accurate diagnosis and combined treatment may improve local control and survival. © 2002 Wiley Periodicals, Inc. Head Neck 24: 605,608, 2002 [source] Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis,,HUMAN MUTATION, Issue 5 2007Susan J Ramus Abstract Misdiagnosis of a germline mutation associated with an inherited disease syndrome can have serious implications for the clinical management of patients. A false negative diagnosis (mutation missed by genetic screening) limits decision making about intervention strategies within families. More serious is the consequence of a false positive diagnosis (genetic test suggesting a mutation is present when it is not). This could lead to an individual, falsely diagnosed as a mutation carrier, undergoing unnecessary clinical intervention, possibly involving risk-reducing surgery. As part of screening 283 ovarian cancer families for BRCA1 mutations, we used two different methods (mutation specific PCR and multiplex ligation-dependant probe amplification) to screen for a known rearrangement mutation L78833.1:g.44369_50449dup (ins6kbEx13). We found false positive and false negative results in several families. We then tested 61 known carriers or non-carriers from an epidemiological study of BRCA1 and BRCA2 mutation carriers (the EMBRACE study). These data highlight the need for caution when interpreting analyses of the ins6kbEx13 mutation and similar mutations, where characterising the exact sequence alteration for a deleterious mutation is not a part of the routine genetic test. © 2007 Wiley-Liss, Inc. [source] Thyroid hormone resistance: the role of mutational analysisINTERNAL MEDICINE JOURNAL, Issue 11 2006C. M. Florkowski Abstract The finding of increased thyroxine (T4) and tri-iodothyronine (T3) levels in a patient with normal or increased thyroid-stimulating hormone is unexpected and presents a differential diagnosis between a thyroid-stimulating hormone-secreting pituitary adenoma, generalized resistance to thyroid hormone (RTH) and laboratory artefact. Without careful clinical and biochemical evaluation, errors may occur in patient diagnosis and treatment. In the case of RTH, mutation of the thyroid hormone receptor beta gene results in generalized tissue resistance to thyroid hormone. As the pituitary gland shares in this tissue resistance, euthyroidism with a normal thyroid-stimulating hormone is usually maintained by increased thyroid hormones. To date, we have identified eight pedigrees in New Zealand with mutations in the thyroid hormone receptor beta gene, including two novel mutations. Mutational analysis of the thyroid hormone receptor beta gene allows definitive diagnosis of RTH, potentially avoiding the need for protracted and expensive pituitary function testing and imaging. Mutational analysis also enables family screening and may help to avoid potential misdiagnosis and inappropriate treatment. [source] A common European foreign policy after Iraq?INTERNATIONAL AFFAIRS, Issue 3 2003Brian Crowe Taking as read the wide range of other instruments that the EU has for international influence (enlargement, aid, trade, association and other arrangements, etc.), the Common Foreign and Security Policy (CFSP), under pressure from the Kosovo conflict, has been shaped by two important decisions in 1999: the creation of the European Security and Defence Policy (ESDP) to give the EU a military capability when NATO as a whole is not engaged, and the appointment as the new High Representative for the CFSP of a high-profile international statesman rather than a senior civil servant. A major European effort will still be needed if Europe is to be effective militarily, whether in the EU/ESDP or NATO framework. The management of the CFSP has been held back by the doctrine of the equality of all member states regardless of their actual contribution. This in turn leads to a disconnect between theory (policy run by committee in Brussels) and practice (policy run by the High Representative working with particular member states and other actors, notably the US). It has been difficult for Javier Solana to develop the authority to do this, not in competition with the Commission as so widely and mistakenly believed, as with member states themselves, and particularly successive rotating presidencies. It is important that misdiagnosis does not lead to politically correct solutions that end up with the cure worse than the disease. Ways need to be found to assure to the High Representative the authority to work with third countries and with the member states making the real contribution, while retaining the support of all. Then, with its own military capability, the EU can have a CFSP that is the highest common factor rather than the lowest common denominator, with member states ready to attach enough priority to the need for common policies to give Europeans a strong influence in the big foreign policy issues of the day. [source] Diagnosis and treatment of odontogenic cutaneous sinus tracts of endodontic origin: three case studiesINTERNATIONAL ENDODONTIC JOURNAL, Issue 3 2009B. Pasternak-Júnior Abstract Aim, To describe three cases of extraoral sinus tracts, related to infected teeth, which were initially misdiagnosed as skin lesions and inappropriately treated. Summary, The extraoral sinus tracts were initially misdiagnosed as skin lesions. Dermatological surgery was performed and antibiotics prescribed but the lesions did not resolve. Then, a dental cause was sought, and identified. Endodontic intervention resulted in resolution of the problem, confirming the initial misdiagnosis. Key learning points ,,Dermatologists and other medical practitioners should be aware that dental extraoral sinus tracts can be confused with skin lesions. ,,A dental aetiology, as part of a differential diagnosis, should be kept in mind with oro-facial skin lesions. ,,If an extraoral sinus tract is of endodontic origin, then elimination of infection through effective endodontic treatment will lead to resolution of the sinus tract. ,,Early correct diagnosis can prevent unnecessary and ineffective antibiotic therapy and/or surgical intervention. [source] Pain assessment in older people with dementia: literature reviewJOURNAL OF ADVANCED NURSING, Issue 1 2009Linda McAuliffe Abstract Title.,Pain assessment in older people with dementia: literature review. Aim., This paper is a report of a literature review conducted to identify barriers to successful pain assessment in older adults with dementia and possible strategies to overcome such barriers. Background., Pain is frequently undetected, misinterpreted, or inaccurately assessed in older adults with cognitive impairment. These people are often unable to articulate or convey how they feel and are often perceived as incapable of experiencing or recalling pain. Data sources., Searches were conducted of CINAHL, Medline and other databases for the period 1993,2007 using the search terms pain, dementia, assess*, barrier* and obstacle*. Methods., Studies were critically appraised by two independent reviewers. Data were extracted using instruments specifically developed for the review. Studies were categorized according to levels of evidence defined by the Australian National Health and Medical Research Council and Joanna Briggs Institute. Results., Perceived barriers to successful pain assessment in people with dementia included lack of recognition of pain, lack of sufficient education and/or training, misdiagnosis or late diagnosis, and non-use of assessment tools. Barriers related to people with dementia included insufficient evidence, the possibility of a ,no pain' subset of people with dementia, type of pain, and stoical attitudes. Strategies proposed as means of overcoming these barriers included knowing the person, knowing by diversity/intuitive perception, education and training, and use of adequate tools. Conclusion., More extensive education and training about the relationship between pain and dementia are urgently needed, as is the development and implementation of an effective pain assessment tool specifically designed to detect and measure pain in older adults with all stages of dementia. [source] Gingival involvement of oral lichen planus in a series of 700 patientsJOURNAL OF CLINICAL PERIODONTOLOGY, Issue 10 2005Michele D. Mignogna Abstract Background: Oral lichen planus (OLP) is one of the most common oral mucosa disorders. OLP gingival involvement is very frequently observed, and it is characterized by wide variations in clinical appearance and symptoms, leading, in many cases, to misdiagnosis or undiagnosis. This can be potentially harmful since OLP patients require appropriate management in oral and periodontal care, together with an adequate systemic evaluation. Objective: In this paper, we have analysed the prevalence and clinical aspects of gingival lesions in our series of 700 patients affected by OLP. Furthermore, we have discussed the possible periodontal implications on the basis of the available literature. Patients and Methods: Data from 700 patients affected by OLP, clinically and histologically assessed, have been studied; the location and morphology of lesions, the symptoms and the progression of the disease have been considered, with particular attention given to gingival involvement. Results: Gingival lesions have been diagnosed in 48% of cases, usually associated with diffuse oral involvement. Only 7.4% of patients had OLP lesions confined to the gingiva. The morphology of lesions included all the forms originally described for OLP (reticular, papular, plaque, atrophic, erosive and bullous). The symptoms, if present, varied from mild discomfort to severe oral pain, with the general trend increasing from the keratotic to the erosive forms. The gingiva was involved in four out of 21 of our oral cancer cases, which developed from pre-existing OLP lesions. Conclusion: OLP is a very proteiform disorder; considering the high frequency of gingival involvement and its influence on oral health, it is our opinion that periodontologists should be involved in OLP management and should become familiar with its clinical aspects and related themes. [source] Liesegang rings in an apocrine hidrocystoma: a case report and review of literatureJOURNAL OF CUTANEOUS PATHOLOGY, Issue 10 2010Heidi M. Gilchrist Liesegang rings represent an in vivo chemical precipitation phenomenon representing a potential diagnostic pitfall for misdiagnosis as parasitic infections. These acellular patterns of lamellar concretions are rare in human tissue. The authors report a case of Liesegang rings observed within an intradermal apocrine hidrocystoma and review the literature for reports of these structures, with particular emphasis on mucocutaneous lesions. Gilchrist HM, Wick MR, Patterson JW. Liesegang rings in an apocrine hidrocystoma. [source] | ||||||||||||||||||||||||||||||||||||||||||||||