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Archives of Pathology & Laboratory... Apr 2011Mucosal leishmaniasis (ML) is a rare disease in the world, even in endemic areas such as Iran. Clinical, histologic, or cytologic assessment may help in the diagnosis of... (Review)
Review
CONTEXT
Mucosal leishmaniasis (ML) is a rare disease in the world, even in endemic areas such as Iran. Clinical, histologic, or cytologic assessment may help in the diagnosis of ML.
OBJECTIVE
To describe clinical, histologic, and cytologic findings in ML.
DESIGN
Review of our files showed 11 patients diagnosed with ML, of whom 7 patients had oral lesions, 1 of whom was a known patient with oral leishmaniasis with recurrence of oral lesions; 2 had laryngeal lesions; and 3 had nasal lesions. One case of laryngeal leishmaniasis was a recurrence of prior oral lesions. Cytologic smears were prepared by scraping the lesions with a scalpel or cytobrush. Histology on the biopsies was done for 7 patients. In 2 patients with nasal lesions, exfoliative cytology was made by washing the nasal cavity. Smears were both air dried and fixed in alcohol and stained.
RESULTS
Cytologic findings showed free Leishman-Donovan bodies, intrahistiocytic Leishman-Donovan bodies, atypical organisms, granuloma, acute and chronic inflammatory cells, histiocytes, multinucleated giant cells, mast cells, binucleated histiocytes (Reed-Sternberg-like cells), and plasma cells. In 6 of the patients, biopsy was inconclusive and in subsequent cytology the organism was detected. In 3 cases, findings from clinical and cytologic examinations were suggestive for leishmaniasis; however, with response to treatment, the diagnosis was confirmed. In 5 patients a malignant tumor was suspected because of clinical or histologic findings, but cytology helped to diagnose leishmaniasis.
CONCLUSIONS
Clinically or histologically, ML can be mistaken for benign and malignant lesions. Scraping or exfoliative cytology is an easy, reliable, and cost-effective method for diagnosing ML. Thus, clinical, histologic, and cytologic features together may help in ML diagnosis.
Topics: Adult; Biopsy; Cytodiagnosis; Diagnosis, Differential; Female; Histiocytes; Humans; Leishmania; Leishmaniasis, Mucocutaneous; Male; Middle Aged; Mouth Diseases; Mouth Neoplasms; Recurrence; Retrospective Studies; Young Adult
PubMed: 21466365
DOI: 10.5858/2010-0069-OA.1 -
Cancer Cytopathology Jun 2021Ocular cytology specimens are small, with limited options for a repeat biopsy. Appropriate handling of these specimens and triaging for ancillary testing can be taxing.... (Review)
Review
Ocular cytology specimens are small, with limited options for a repeat biopsy. Appropriate handling of these specimens and triaging for ancillary testing can be taxing. In this article, the author reviews a selection of potentially challenging diagnoses and current common practices and methods used in diagnosing ocular diseases by cytology. The majority of cytology specimens submitted for evaluation of ocular diseases can be divided into 3 major categories: surface epithelial corneal and conjunctival cytology samples, intraocular fluids from the anterior (aqueous fluid) or posterior (vitreous fluid) chambers of the eye, and intraocular fine-needle aspiration specimens. The clinical findings, testing, and cytologic features of ocular surface epithelial infections, inflammations and neoplasia are discussed; and challenges in processing and diagnosing intraocular infections, chronic uveitis, and vitreoretinal lymphoma are reviewed. Novel molecular testing in the cytologic diagnosis and classification of uveal melanoma also is explored. Cytology evaluation of corneal epithelial and stromal cells, anterior chamber and vitreous samples, and fine-needle aspiration biopsies can provide detailed diagnostic findings to aid in the treatment and follow-up of patients with ocular diseases.
Topics: Animals; Cytodiagnosis; Cytological Techniques; Eye Diseases; Humans
PubMed: 33136340
DOI: 10.1002/cncy.22384 -
Revista de Neurologia Mar 2019Epileptic seizures and epilepsy are part of daily clinical practice in neurology. Yet, the number of false positive diagnoses is surprisingly high. Almost one out of... (Review)
Review
INTRODUCTION
Epileptic seizures and epilepsy are part of daily clinical practice in neurology. Yet, the number of false positive diagnoses is surprisingly high. Almost one out of every five patients treated for epilepsy does not really have this diagnosis, which is a high percentage bearing in mind the social and medical consequences that being diagnosed with epilepsy entails.
AIMS
To summarise the most important diagnostic challenges in epilepsy, to describe possible sources of diagnostic error and to offer advice on how to avoid them.
DEVELOPMENT
Epilepsy is characterised by a tendency to suffer unprovoked epileptic seizures. The greatest obstacle when it comes to diagnosing a case of epilepsy is the fact that epileptic seizures are transient phenomena that occur relatively infrequently and the physician who must carry out the diagnosis will rarely see them. Moreover, there are other clinical events, such as syncopes or non-epileptic seizures, that may be similar to epileptic seizures in appearance and, consequently, can be mistaken for them. Finally, when interpreting the two most important complementary diagnostic techniques in epileptology, the electroencephalogram and magnetic resonance imaging of the brain, the most common errors must be taken into account in order to prevent mistaken diagnoses.
CONCLUSIONS
The diagnosis of epilepsy is a challenge and must be based on a detailed and specific medical record. If there are any reasonable doubts, from the outset, about the diagnosis of epilepsy or if the patient does not respond well to the antiepileptic treatment, we recommend referring the patient to a specialised centre to establish a definitive diagnosis.
Topics: Diagnosis, Differential; Diagnostic Errors; Electroencephalography; Epilepsy; Humans
PubMed: 30855710
DOI: 10.33588/rn.6806.2018242 -
BMC Medical Informatics and Decision... Mar 2022Acute Rheumatic Fever (ARF) is a critically important condition for which there is no diagnostic test. Diagnosis requires the use of a set of criteria comprising...
BACKGROUND
Acute Rheumatic Fever (ARF) is a critically important condition for which there is no diagnostic test. Diagnosis requires the use of a set of criteria comprising clinical, laboratory, electrocardiographic and echocardiographic findings. The complexity of the algorithm and the fact that clinicians lack familiarity with ARF, make ARF diagnosis ideally suited to an electronic decision support tool. The ARF Diagnosis Calculator was developed to assist clinicians in diagnosing ARF and correctly assign categories of 'possible, 'probable' or 'definite' ARF. This research aimed to evaluate the acceptability, accuracy, and test performance of the ARF Diagnosis Calculator.
METHODS
Three strategies were used to provide triangulation of data. Users of the calculator employed at Top End Health Service, Northern Territory, Australia were invited to participate in an online survey, and clinicians with ARF expertise were invited to participate in semi-structured interviews. Qualitative data were analysed using inductive analysis. Performance of the calculator in correctly diagnosing ARF was assessed using clinical data from 35 patients presenting with suspected ARF. Diagnoses obtained from the calculator were compared using the Kappa statistic with those obtained from a panel of expert clinicians.
RESULTS
Survey responses were available from 23 Top End Health Service medical practitioners, and interview data were available from five expert clinicians. Using a 6-point Likert scale, participants highly recommended the ARF Diagnosis Calculator (median 6, IQR 1), found it easy to use (median 5, IQR 1) and believed the calculator helped them diagnose ARF (median 5, IQR 1). Clinicians with ARF expertise noted that electronic decision making is not a substitute for clinical experience. There was high agreement between the ARF Diagnosis Calculator and the 'gold standard' ARF diagnostic process (κ = 0.767, 95% CI: 0.568-0.967). Incorrect assignment of diagnosis occurred in 4/35 (11%) patients highlighting the greater accuracy of expert clinical input for ambiguous presentations. Sixteen changes were incorporated into a revised version of the calculator.
CONCLUSIONS
The ARF Diagnosis Calculator is an easy-to-use, accessible tool, but it does not replace clinical expertise. The calculator performed well amongst clinicians and is an acceptable tool for use within the clinical setting with a high level of accuracy in comparison to the gold standard diagnostic process. Effective resources to support clinicians are critically important for improving the quality of care of ARF.
Topics: Echocardiography; Humans; Northern Territory; Rheumatic Fever; Surveys and Questionnaires
PubMed: 35346167
DOI: 10.1186/s12911-022-01816-7 -
BMJ Case Reports Apr 2013Small renal or pararenal masses and retroperitoneum lesions are extremely difficult to diagnose. Imaging technology is a precious diagnostic tool; however, it places...
Small renal or pararenal masses and retroperitoneum lesions are extremely difficult to diagnose. Imaging technology is a precious diagnostic tool; however, it places physicians in a difficult position since many lesions are not precisely diagnosed. Clinical and radiological findings can guide suspicion towards the diagnosis; however, in our current practice most diagnoses are based on histological findings. We aim to present a pararenal sclerosing perivascular epithelioid cell tumour (PEComa), a rare entity, whose diagnosis is only possible through invasive approaches and histological analysis. This rare lesion not only is difficult to diagnose but also has an uncertain behaviour, which is of major importance concerning its follow-up and prognosis. This case report is an attempt to add more data that will help establish criteria for diagnosis and follow-up of this rare disease.
Topics: Diagnosis, Differential; Diagnostic Imaging; Female; Humans; Kidney Neoplasms; Middle Aged; Perivascular Epithelioid Cell Neoplasms
PubMed: 23598939
DOI: 10.1136/bcr-2013-009097 -
Acta Cytologica 2022Small round cell sarcomas (SRCSs) account for most solid malignancies in the pediatric age group and are a part of group of malignant tumors characterized by... (Review)
Review
BACKGROUND
Small round cell sarcomas (SRCSs) account for most solid malignancies in the pediatric age group and are a part of group of malignant tumors characterized by heterogenous clinical presentation and overlapping microscopic features of small, round, primitive cells. In addition to the recently established certain genetically defined subset of undifferentiated round cell sarcomas of soft tissue and bone, this group of sarcomas include desmoplastic small round cell tumor, poorly differentiated synovial sarcoma, alveolar rhabdomyosarcoma, mesenchymal chondrosarcoma, and small cell osteosarcoma. Although, those entities share clinical and cytomorphologic features and cannot be unequivocally classified based on clinical presentation and morphology alone. Most of SRCSs characterizes of particular patterns of protein expression or genetic changes and ancillary tests remain necessary to confirm or rule out a specific diagnosis. Subtle but occasionally distinctive cytologic features narrows the number of differential diagnoses and helps to select appropriate ancillary tests necessary for the final diagnosis. Thus, when adequate fine needle aspiration (FNA) biopsy specimen is combined with ancillary tests, a specific histologic diagnosis can be made in almost all cases. However, due to complex cytologic features of SRCS as well as various quality and diversity of FNA smears, there are cases in that cytologic features which do not entirely match the known diagnostic criteria.
SUMMARY
The aim of this review was to summarize cytomorphologic criteria and to present rare and divergent cytological features of SRCSs. Careful assessment of clinical presentation, cytological features, immunohistochemical patterns, and molecular alternations is necessary for an accurate diagnosis. Knowing of rare and divergent microscopic findings that does not fit with the known cytological criteria will help to avoid misdiagnosis.
KEY MESSAGES
The role of FNA biopsies diagnosing soft tissue and bone tumors has been increasing because of the ability of ancillary tests to assist in the diagnosis of specific tumors. SRCSs may be diagnosed accurately in cytology specimens. Access to clinical and radiographic presentation, utility of ancillary tests, understanding complexity of cytological features, and awareness of the rare cytologic findings that differ from that of the established diagnostic criteria are essential to make correct diagnosis.
Topics: Biopsy, Fine-Needle; Bone Neoplasms; Child; Diagnosis, Differential; Humans; Sarcoma; Soft Tissue Neoplasms
PubMed: 35417916
DOI: 10.1159/000524260 -
Chinese Clinical Oncology Dec 2021The purpose of this narrative review is to summarize the contributors to misdiagnosis or delayed diagnosis of inflammatory breast cancer (IBC) and strategies for... (Review)
Review
OBJECTIVE
The purpose of this narrative review is to summarize the contributors to misdiagnosis or delayed diagnosis of inflammatory breast cancer (IBC) and strategies for expedient diagnosis.
BACKGROUND
Patients with IBC often report the disease as initially being misdiagnosed, most commonly as mastitis.
METHODS
We reviewed the literature on this challenging diagnosis by using sequential PubMed search criteria including IBC breast symptoms, IBC diagnosis, and IBC imaging modalities to augment the authors' knowledge of IBC. Other references were added from the manuscripts identified in the PubMed searches and from manuscript reviewers.
CONCLUSIONS
Several factors contribute to the delayed diagnosis of IBC. One important factor is that IBC is uncommon, and many generalists may not be aware of it in the differential diagnosis of breast skin symptoms. Several features of IBC contribute to the low sensitivity of mammography for its detection, and so the diagnosis is based on clinical factors and is thereby subjective. The presentation can be highly varied; classic textbook images that do not capture the range of presenting signs and symptoms across skin tones may contribute to missed diagnoses in patients with atypical presentations. In fact, the staging system of the American Joint Committee on Cancer, which requires erythema of the breast skin for diagnosis, may exclude patients with obvious global breast skin findings that are not explicitly red. We present an adapted algorithm for working up the undiagnosed inflammatory breast to ensure the timely and accurate diagnosis of IBC. We assert that frank, non-erythematous global skin signs in an enlarged breast with diffuse breast malignancy are sufficient to diagnose IBC if the timing of these signs and findings on biopsy are consistent. We further provide images of atypical IBC identified by global breast skin signs, including peau d'orange, consistent with IBC in the absence of frank erythema.
Topics: Breast Neoplasms; Diagnosis, Differential; Female; Humans; Inflammatory Breast Neoplasms
PubMed: 35016512
DOI: 10.21037/cco-21-116 -
Clinica Chimica Acta; International... Sep 2016Sepsis is the host response to microbial pathogens resulting in significant morbidity and mortality. An accurate and timely diagnosis of sepsis allows prompt and... (Review)
Review
Sepsis is the host response to microbial pathogens resulting in significant morbidity and mortality. An accurate and timely diagnosis of sepsis allows prompt and appropriate treatment. This review discusses laboratory testing for sepsis because differentiating systemic inflammation from infection is challenging. Procalcitonin (PCT) is currently an FDA approved test to aid in the diagnosis of sepsis but with questionable efficacy. However, studies support the use of PCT for antibiotic de-escalation. Serial lactate measurements have been recommended for monitoring treatment efficacy as part of sepsis bundles. The 2016 sepsis consensus definitions include lactate concentrations >2mmol/L (>18mg/dL) as part of the definition of septic shock. Also included in the 2016 definitions are measuring bilirubin and creatinine to determine progression of organ failure indicating worse prognosis. Hematologic parameters, including a simple white blood cell count and differential, are frequently part of the initial sepsis diagnostic protocols. Several new biomarkers have been proposed to diagnose sepsis or to predict mortality, but they currently lack sufficient sensitivity and specificity to be considered as stand-alone testing. If sepsis is suspected, new technologies and microbiologic assays allow rapid and specific identification of pathogens. In 2016 there is no single laboratory test that accurately diagnoses sepsis.
Topics: Biomarkers; Clinical Laboratory Techniques; Humans; Sensitivity and Specificity; Sepsis
PubMed: 27387712
DOI: 10.1016/j.cca.2016.07.002 -
Journal of Cancer Research and... 2014Breast cancer is one of the familiar diseases in women. Incidence and mortality due to cancer, particularly breast cancer has been increasing for last 50 years, even... (Review)
Review
Breast cancer is one of the familiar diseases in women. Incidence and mortality due to cancer, particularly breast cancer has been increasing for last 50 years, even though there is a lacuna in the diagnosis of breast cancer at early stages. According to World Health Organization (WHO) 2012 reports, breast cancer is the leading cause of death in women, accounting 23% of all cancer deaths. In Asia, one in every three women faces the risk of breast cancer in their lifetime as per reports of WHO 2012. Here, the review is been focused on different breast cancer markers, that is, tissue markers (hormone receptors, human epidermal growth factor-2, urokinase plasminogen activator, plasminogen activator inhibitor, p53 and cathepsin D), genetic markers (BRAC1 and 2 and gene expression microarray technique, etc.), and serum markers (CA 15.3, BR 27.29, MCA, CA 549, carcinoembryonic antigen, oncoproteins, and cytokeratins) used in present diagnosis, but none of the mentioned markers can diagnose breast cancer at an early stage. There is a disquieting need for the identification of best diagnosing marker, which can be able to diagnose even in early stage of breast carcinogenesis.
Topics: Asia; Biomarkers, Tumor; Breast Neoplasms; Cell Transformation, Neoplastic; Female; Humans; Neoplasm Grading; Neoplasm Staging; Ploidies; Prognosis
PubMed: 25313729
DOI: 10.4103/0973-1482.137927 -
Medicina Oral, Patologia Oral Y Cirugia... Jul 2023Knowledge of oral mucosal lesions (OMLs) among dentists is relevant in diagnosing potentially malignant diseases and oral cancer at an early stage. The aim of this...
BACKGROUND
Knowledge of oral mucosal lesions (OMLs) among dentists is relevant in diagnosing potentially malignant diseases and oral cancer at an early stage. The aim of this survey was to explore dentists' knowledge about OMLs.
MATERIAL AND METHODS
Respondents to a web-based questionnaire, containing 11 clinical vignettes representing patients with various OMLs, provided a (differential) diagnosis and management for each. Information about demographics and clinical experience of the participants was acquired as well. Descriptive statistics were performed and T-tests were used to test for significant (p<0.05) differences in mean scores for correct diagnosis and management between subgroups based on demographic variables.
RESULTS
Forty-four of 500 invited dentists completed the questionnaire. For (potentially) malignant OMLs, the number of correct diagnoses ranged from 14 to 93%, whilst the number of correct management decisions ranged from 43 to 86%. For benign OMLs, the number of correct diagnoses and management decisions ranged from 32 to 100% and 9 to 48%, respectively. For 11 clinical vignettes, mean scores for correct diagnosis, correct management and correct diagnosis and management were respectively 7.2 (±1.8), 5.7 (±1.5), and 3.8 (±1.7).
CONCLUSIONS
The results show that dentists in the Netherlands do not have sufficient knowledge to accurately diagnose some OMLs and to select a correct management. This may result in over-referral of benign OMLs and under-referral for (potentially) malignant OMLs. Clinical guidelines, that include standardized criteria for referral, and continuing education, may improve dentists' ability to correctly diagnose and accurately manage OMLs.
Topics: Humans; Netherlands; Mouth Neoplasms; Referral and Consultation; Diagnosis, Differential; Dentists; Surveys and Questionnaires
PubMed: 36641742
DOI: 10.4317/medoral.25774