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Current Opinion in Pediatrics Feb 2021SARS-CoV-2 is the novel human coronavirus responsible for the COVID19 pandemic. Accurate detection of infection with SARS-CoV-2 is an essential component of efforts to... (Review)
Review
PURPOSE OF REVIEW
SARS-CoV-2 is the novel human coronavirus responsible for the COVID19 pandemic. Accurate detection of infection with SARS-CoV-2 is an essential component of efforts to treat individual patients and to contain spread of the virus in the community. The purpose of this review is to describe current diagnostic modalities for SARS-CoV-2 and outline their use. Special considerations for pediatric age groups are included.
RECENT FINDINGS
RNA PCR from the upper respiratory tract remains the gold standard for detection of infection with SARS-CoV-2. Antigen testing is being widely deployed as a faster and more convenient alternative to PCR, but is less sensitive and should only be used for diagnosis early after symptom onset. Serologic assays can document prior infection and are helpful in diagnosing multisystem inflammatory syndrome in children. Serologic testing should not be used to diagnose acute or active infection. Immune assays are likely to provide a useful measure of protection against COVID19 in the future as knowledge of protective responses improves.
SUMMARY
A variety of SARS-CoV-2 diagnostics have recently been developed and deployed. Clinicians should understand the appropriate use and interpretation of RNA PCR, antigen testing and immune assays for SARS-CoV-2 in order to diagnose and treat patients in this evolving pandemic.
Topics: COVID-19; COVID-19 Testing; Diagnostic Techniques and Procedures; Humans; SARS-CoV-2; Systemic Inflammatory Response Syndrome
PubMed: 33278110
DOI: 10.1097/MOP.0000000000000972 -
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 -
Postgraduate Medicine Aug 2021The diagnosis of pulmonary embolism (PE) is often made more challenging by the presence of diseases that can mimic thromboembolic disease. There is no specific or...
The diagnosis of pulmonary embolism (PE) is often made more challenging by the presence of diseases that can mimic thromboembolic disease. There is no specific or sensitive constellation of clinical signs or symptoms that can be used to diagnose PE. Ventilation/perfusion scans can have false-positive findings related to mediastinal conditions that can compress the pulmonary arteries, and pulmonary hemorrhage can resemble PE on V/Q scanning with potentially devastating consequences if anticoagulation is started. CT-scan related issues l eading to potential false-positive diagnoses range from inadequate imaging technique, to systemic-pulmonary shunting, to non-thrombotic occlusion of pulmonary arteries by tumor, septic emboli, and emboli of fat, air, and foreign material, as well as vasculitic processes. Careful assessment of the patient and consideration of these potential mimickers is imperative to correct diagnosis of this potentially life-threatening condition.
Topics: Diagnosis, Differential; Humans; Pulmonary Artery; Pulmonary Embolism; Radiography
PubMed: 34000963
DOI: 10.1080/00325481.2021.1931370 -
Preferred diagnostic methods of pyriform sinus fistula in different situations: A systematic review.American Journal of Otolaryngology 2023Pyriform sinus fistula (PSF) diagnosis is often easily delayed and incorrect. Diagnostic values of modalities vary in different situations. The aim of this study was to... (Review)
Review
PURPOSE
Pyriform sinus fistula (PSF) diagnosis is often easily delayed and incorrect. Diagnostic values of modalities vary in different situations. The aim of this study was to recommend optimal schemes for diagnosing PSF at different ages and infection stages.
METHODS
A search of PubMed, Embase, Cochrane Library, and CBM databases was conducted to identify articles written in Chinese and English concerning PSF diagnosis using keywords: "pyriform sinus fistula", "diagnosis", and relevant synonymous terms. Quality assessment was performed using the Joanna Briggs Institute (JBI) levels of evidence and critical appraisal checklist tool.
RESULTS
111 studies describing 3692 patients were included. The highest true positive rate (TPR) of ultrasonography was 66.67 % in adult cases. Computed tomography (CT) yielded a good TPR (approximately 73 %) in both neonatal and adult patients, and contrast-enhanced CT (84.21 %) was better in adult patients. Most children cases could be accurately diagnosed by barium swallow (BS) examination which was significantly different in acute and non-infection stages (AIS, NIS). Magnetic resonance imaging (MRI) produced a nice TPR in fetal cases (69.23 %) and neonatal cases (54.44 %). Laryngoscopy was also affected by infection stages. TPR of gastroscopy (GS) was the highest in children (86.36 %) and adult cases (87.50 %).
CONCLUSION
For fetal cases suspected of PSF, an MRI is recommended. MRI or CT is preferred for neonatal cases regardless of infection stages. Children and adult patients are advised to undergo GS during NIS or AIS, while BS is suggested for NIS. Contrast-enhanced CT can also diagnose adults with PSF in AIS.
Topics: Child; Infant, Newborn; Humans; Pyriform Sinus; Tomography, X-Ray Computed; Ultrasonography; Laryngoscopy; Fistula; Retrospective Studies
PubMed: 36584597
DOI: 10.1016/j.amjoto.2022.103747 -
European Radiology Dec 2023PSC strictures are routinely diagnosed on T2-MRCP as dominant- (DS) or high-grade stricture (HGS). However, high inter-observer variability limits their utility. We...
OBJECTIVES
PSC strictures are routinely diagnosed on T2-MRCP as dominant- (DS) or high-grade stricture (HGS). However, high inter-observer variability limits their utility. We introduce the "potential functional stricture" (PFS) on T1-weighted hepatobiliary-phase images of gadoxetic acid-enhanced MR cholangiography (T1-MRC) to assess inter-reader agreement on diagnosis, location, and prognostic value of PFS on T1-MRC vs. DS or HGS on T2-MRCP in PSC patients, using ERCP as the gold standard.
METHODS
Six blinded readers independently reviewed 129 MRIs to diagnose and locate stricture, if present. DS/HGS was determined on T2-MRCP. On T1-MRC, PFS was diagnosed if no GA excretion was seen in the CBD, hilum or distal RHD, or LHD. If excretion was normal, "no functional stricture" (NFS) was diagnosed. T1-MRC diagnoses (NFS = 87; PFS = 42) were correlated with ERCP, clinical scores, labs, splenic volume, and clinical events. Statistical analyses included Kaplan-Meier curves and Cox regression.
RESULTS
Interobserver agreement was almost perfect for NFS vs. PFS diagnosis, but fair to moderate for DS and HGS. Forty-four ERCPs in 129 patients (34.1%) were performed, 39 in PFS (92.9%), and, due to clinical suspicion, five in NFS (5.7%) patients. PFS and NFS diagnoses had 100% PPV and 100% NPV, respectively. Labs and clinical scores were significantly worse for PFS vs. NFS. PFS patients underwent more diagnostic and therapeutic ERCPs, experienced more clinical events, and reached significantly more endpoints (p < 0.001) than those with NFS. Multivariate analysis identified PFS as an independent risk factor for liver-related events.
CONCLUSION
T1-MRC was superior to T2-MRCP for stricture diagnosis, stricture location, and prognostication.
CLINICAL RELEVANCE STATEMENT
Because half of PSC patients will develop clinically-relevant strictures over the course of the disease, earlier more confident diagnosis and correct localization of functional stricture on gadoxetic acid-enhanced MRI may optimize management and improve prognostication.
KEY POINTS
• There is no consensus regarding biliary stricture imaging features in PSC that have clinical relevance. • Twenty-minute T1-weighted MRC images correctly classified PSC patients with potential (PFS) vs with no functional stricture (NFS). • T1-MRC diagnoses may reduce the burden of diagnostic ERCPs.
Topics: Humans; Cholangiopancreatography, Magnetic Resonance; Constriction, Pathologic; Cholangitis, Sclerosing; Retrospective Studies; Magnetic Resonance Imaging; Cholangiopancreatography, Endoscopic Retrograde
PubMed: 37470827
DOI: 10.1007/s00330-023-09915-3 -
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 -
Journal of Medical Ultrasonics (2001) Oct 2022Carotid artery ultrasonography is capable of diagnosing or inferring the presence or absence of stenosis or occlusion of the internal carotid artery (ICA) and vertebral... (Review)
Review
Carotid artery ultrasonography is capable of diagnosing or inferring the presence or absence of stenosis or occlusion of the internal carotid artery (ICA) and vertebral artery (VA), as well as the not directly observable distal ICA, middle cerebral artery (MCA), and basilar artery (BA). Stenosis at the origin of the ICA is mainly evaluated using the parameter peak systolic velocity (PSV), with values of ≥ 200-230 cm/s indicating severe stenosis. Recently, the acceleration time ratio has been reported for diagnosis of ICA origin stenosis. An indicator called the end-diastolic (ED) ratio can be used for diagnosing occlusion of the distal ICA or the M1 segment of the MCA. The PSV of stenosis can be used to diagnose stenosis at the beginning of the VA or V1, and mean flow velocity, mean ratio, and diameter ratio can be used to diagnose distal VA occlusion. Furthermore, the usefulness of the VA pulsatility index and resistance index has been suggested for diagnosing stenosis or occlusion of the BA. This review outlines diagnostic sonography criteria for stenosis and occlusion of extracranial and intracranial arteries.
Topics: Humans; Carotid Stenosis; Carotid Artery, Internal; Constriction, Pathologic; Blood Flow Velocity; Ultrasonography; Sensitivity and Specificity
PubMed: 36175716
DOI: 10.1007/s10396-022-01259-7 -
Journal of Cachexia, Sarcopenia and... Dec 2021Sarcopenia is defined as muscle wasting, characterized by a progressive loss of muscle mass and function due to ageing. Diagnosis of sarcopenia typically involves both...
BACKGROUND
Sarcopenia is defined as muscle wasting, characterized by a progressive loss of muscle mass and function due to ageing. Diagnosis of sarcopenia typically involves both muscle imaging and the physical performance of people exhibiting signs of muscle weakness. Despite its worldwide prevalence, a molecular method for accurately diagnosing sarcopenia has not been established.
METHODS
We develop an artificial intelligence (AI) diagnosis model of sarcopenia using a published transcriptome dataset comprising patients from multiple ethnicities. For the AI model for sarcopenia diagnosis, we use a transcriptome database comprising 17 339 genes from 118 subjects. Among the 17 339 genes, we select 27 features as the model inputs. For feature selection, we use a random forest, extreme gradient boosting and adaptive boosting. Using the top 27 features, we propose a four-layer deep neural network, named DSnet-v1, for sarcopenia diagnosis.
RESULTS
Among isolated testing datasets, DSnet-v1 provides high sensitivity (100%), specificity (94.12%), accuracy (95.83%), balanced accuracy (97.06%) and area under receiver operating characteristics (0.99). To extend the number of patient data, we develop a web application (http://sarcopeniaAI.ml/), where the model can be accessed unrestrictedly to diagnose sarcopenia if the transcriptome is available. A focused analysis of the top 27 genes for their differential or co-expression with other genes implied the potential existence of race-specific factors for sarcopenia, suggesting the possibility of identifying causal factors of sarcopenia when a more extended dataset is provided.
CONCLUSIONS
Our new AI model, DSnet-v1, accurately diagnoses sarcopenia and is currently available publicly to assist healthcare providers in diagnosing and treating sarcopenia.
Topics: Artificial Intelligence; Biomarkers; Humans; Intelligence; Prognosis; Sarcopenia
PubMed: 34704369
DOI: 10.1002/jcsm.12840 -
JAMA Dermatology Dec 2023The incidence of melanoma diagnoses has been increasing in recent decades, and controlled studies have indicated high histopathologic discordance across the intermediate...
IMPORTANCE
The incidence of melanoma diagnoses has been increasing in recent decades, and controlled studies have indicated high histopathologic discordance across the intermediate range of melanocytic lesions. The respective causes for these phenomena remain incompletely understood.
OBJECTIVE
To identify pathologist characteristics associated with tendencies to diagnose melanocytic lesions as higher grade vs lower grade or to diagnose invasive melanoma vs any less severe diagnosis.
DESIGN, SETTING, AND PARTICIPANTS
This exploratory study used data from 2 nationwide studies (the Melanoma Pathology [M-Path] study, conducted from July 2013 to May 2016, and the Reducing Errors in Melanocytic Interpretations [REMI] study, conducted from August 2018 to March 2021) in which participating pathologists who interpreted melanocytic lesions in their clinical practices interpreted study cases in glass slide format. Each pathologist was randomly assigned to interpret a set of study cases from a repository of skin biopsy samples of melanocytic lesions; each case was independently interpreted by multiple pathologists. Data were analyzed from July 2022 to February 2023.
MAIN OUTCOMES AND MEASURES
The association of pathologist characteristics with diagnosis of a study case as higher grade (including severely dysplastic and melanoma in situ) vs lower grade (including mild to moderately dysplastic nevi) and diagnosis of invasive melanoma vs any less severe diagnosis was assessed using logistic regression. Characteristics included demographics (age, gender, and geographic region), years of experience, academic affiliation, caseload of melanocytic lesions in their practice, specialty training, and history of malpractice suits.
RESULTS
A total of 338 pathologists were included: 113 general pathologists and 74 dermatopathologists from M-Path and 151 dermatopathologists from REMI. The predominant factor associated with rendering more severe diagnoses was specialist training in dermatopathology (board certification and/or fellowship training). Pathologists with this training were more likely to render higher-grade diagnoses (odds ratio [OR], 2.63; 95% CI, 2.10-3.30; P < .001) and to diagnose invasive melanoma (OR, 1.95; 95% CI, 1.53-2.49; P < .001) than pathologists without this training interpreting the same case. Nonmitogenic pT1a diagnoses (stage pT1a melanomas with no mitotic activity) accounted for the observed difference in diagnosis of invasive melanoma; when these lesions, which carry a low risk of metastasis, were grouped with the less severe diagnoses, there was no observed association (OR, 0.95; 95% CI, 0.74-1.23; P = .71). Among dermatopathologists, those with a higher caseload of melanocytic lesions in their practice were more likely to assign higher-grade diagnoses (OR for trend, 1.27; 95% CI, 1.04-1.56; P = .02).
CONCLUSIONS AND RELEVANCE
The findings suggest that specialty training in dermatopathology is associated with a greater tendency to diagnose atypical melanocytic proliferations as pT1a melanomas. These low-risk melanomas constitute a growing proportion of melanomas diagnosed in the US.
Topics: Humans; Melanoma; Pathologists; Skin Neoplasms; Melanocytes; Biopsy
PubMed: 37938821
DOI: 10.1001/jamadermatol.2023.4334 -
Diagnostic Cytopathology Feb 2022Small cell melanoma (SCM) is an aggressive variant of malignant melanoma (MM), which has been rarely described in the cytology literature. The aim of this study was to...
Small cell melanoma (SCM) is an aggressive variant of malignant melanoma (MM), which has been rarely described in the cytology literature. The aim of this study was to describe the clinical and cytologic features of a series of cases of metastatic SCM with discussion of the differential diagnosis of metastatic SCM diagnosed by fine-needle aspiration (FNA). A retrospective review of cases was performed, identifying two FNA cases and one core biopsy with touch preparation of metastatic SCM. Clinical presentation, cytomorphology features, ancillary tests, and final diagnoses were documented and analyzed. Patients ranged in age from 69 to 85 years-old. Cytomorphologic features included the presence of a monomorphic population of dispersed small round blue cells, with scant cytoplasm, high nuclear to cytoplasmic ratios, dense nuclear chromatin, and inconspicuous nucleoli. Acinar like arrangement (n = 2) and nuclear molding (n = 1) were also present. All cases showed diffuse positivity for the melanocytic markers SOX10 and Melan A by immunohistochemistry (IHC). Expression of neuroendocrine markers was variable. Diagnosing metastatic SCM at unusual anatomic sites by FNA cytology is a challenging task, especially in patients without known prior history of melanoma. Cytomorphology of SCM is unique, differing from conventional MM in many aspects, including the presence of acinar formations and a lack of typical melanoma features, such as large cells, intracytoplasmic melanin, and macronucleoli. IHC is critical for establishing the diagnosis of SCM.
Topics: Aged; Aged, 80 and over; Biopsy, Fine-Needle; Female; Humans; Male; Melanoma; Skin Neoplasms; Treatment Outcome
PubMed: 34694751
DOI: 10.1002/dc.24889