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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 -
Archives of Pathology & Laboratory... Sep 2018- Small lung biopsies (core needle biopsies and transbronchial biopsies) are the most common-and often the first-lung sample obtained when a radiologic abnormality is... (Review)
Review
CONTEXT
- Small lung biopsies (core needle biopsies and transbronchial biopsies) are the most common-and often the first-lung sample obtained when a radiologic abnormality is detected and tissue diagnosis is required. When a neoplastic diagnosis cannot be made but pathologic abnormalities are present, it is useful for pathologists to have a list ("menu") of specific nonneoplastic diagnoses that can be made in these samples.
OBJECTIVE
- To provide surgical pathologists and pathology trainees with menus of nonneoplastic entities that can be diagnosed in small lung biopsies, and to briefly describe and illustrate some of these entities as they appear in small lung biopsies.
DATA SOURCES
- Published literature and the authors' experience with small lung biopsies for diagnosis of nonneoplastic lung diseases.
CONCLUSIONS
- Although sampling error imposes some limitations, core needle biopsies and transbronchial lung biopsies can contribute to the diagnosis of a variety of nonneoplastic lung diseases and reduce the need for invasive surgical intervention.
Topics: Biopsy; Biopsy, Large-Core Needle; Bronchoscopy; Humans; Lung Diseases; Pathology, Surgical
PubMed: 30141992
DOI: 10.5858/arpa.2017-0558-RA -
Indian Journal of Pediatrics Aug 2019Approximately 25,000 children develop multidrug-resistant (MDR) tuberculosis (TB) each year, but few of them are diagnosed and appropriately treated for MDR-TB. New... (Review)
Review
Approximately 25,000 children develop multidrug-resistant (MDR) tuberculosis (TB) each year, but few of them are diagnosed and appropriately treated for MDR-TB. New diagnostic tools have improved our ability to diagnose children with bacteriologically confirmed TB earlier. However, the majority of childhood TB cases are not bacteriologically confirmed; therefore a high index of suspicion is needed, and taking a detailed history of contact with drug-resistant source cases and previous TB treatment is important to identify presumed MDR-TB cases. Treatment for MDR-TB is rapidly changing with the addition of new and repurposed drugs, the introduction of shorter regimens and the move towards injectable-free, all-oral MDR-TB treatment regimens. Children have been neglected in the introduction of the new drugs, but drug dosing and safety studies are now being completed. This article presents a practical approach in deciding which regimen to use in individual children in need of MDR-TB treatment. Outcomes in those treated are generally good, but only <5% of children with MDR-TB are currently diagnosed and appropriately treated. Diagnosing children with MDR-TB and getting them on to correct treatment regimens should now be our main focus.
Topics: Administration, Oral; Antitubercular Agents; Child; Dose-Response Relationship, Drug; Drug Administration Schedule; Humans; Microbial Sensitivity Tests; Tuberculosis, Multidrug-Resistant
PubMed: 30656560
DOI: 10.1007/s12098-018-02846-8 -
Zeitschrift Fur Gastroenterologie Jan 2016Diagnosing diverticulitis implies physical and laboratory examination, cross-sectional imaging (computed tomography [CT] or ultrasonography [US]), and a classification... (Review)
Review
Diagnosing diverticulitis implies physical and laboratory examination, cross-sectional imaging (computed tomography [CT] or ultrasonography [US]), and a classification of the type of diverticular disease. This article illustrates the role of ultrasonography in view of the recently published Guidelines on diverticular disease of the Consensus Conference of the German Societies of Gastroenterology (DGVS) and Visceral Surgery (DGAV). The focus is to foster both sensitivity for pictorial analysis and improving practical accomplishments of US in diverticulitis. Based on the German classification of diverticular disease (CDD), characteristic features of each type of diverticulitis are presented and commented along with possible differential diagnoses. In the literature qualified US is equipotent to qualified CT. US is frequently effective for the diagnosis and unsurpassed resolution enables detailed imaging thereby allowing one to differentiate and stratify the relevant types of diverticular disease according to the new classification. This educational review is a guided tour through the different facettes of diverticulitis on ultrasonography thereby expanding and multiplying individual competence to more users. With expert performance, US is in the pole position for diagnosing diverticulitis, however, this does come with the price of responsibility and requires transfer of advanced standards and performance in the broad.
Topics: Acute Disease; Diagnosis, Differential; Diverticulitis; Evidence-Based Medicine; Humans; Image Enhancement; Patient Positioning; Ultrasonography
PubMed: 26751117
DOI: 10.1055/s-0041-108204 -
Annals of Diagnostic Pathology Oct 2021Localized cutaneous argyria is a rare cutaneous disorder that has been associated with occupational exposure, dental procedures, topical agents, acupuncture, earrings,... (Review)
Review
Localized cutaneous argyria is a rare cutaneous disorder that has been associated with occupational exposure, dental procedures, topical agents, acupuncture, earrings, and nasal piercings. In this paper, we review the current literature on localized cutaneous argyria, highlight its clinical and histologic diagnostic features, and then discuss the clinical and histological differential diagnoses for blue-gray skin and black dermal pigment, respectively. We also discuss the utility of ancillary techniques, such as deeper histologic levels, special stains, darkfield microscopy, and advanced micro-analytical techniques in helping diagnose localized cutaneous argyria. Furthermore, we emphasize that a thorough clinical history and astute clinico-pathologic correlation can be the most important diagnostic techniques in correctly diagnosing this rare disorder. Our review aims serve as a reminder to clinicians and pathologists of the importance of including localized cutaneous argyria in the clinical and histological differential diagnosis of pigmented lesions.
Topics: Argyria; Diagnosis, Differential; Humans; Melanocytes; Skin; Skin Diseases
PubMed: 34214703
DOI: 10.1016/j.anndiagpath.2021.151776 -
International Journal of Surgery... Apr 2017Acute appendicitis is the most common condition that presents with an acute abdomen needing emergency surgery. Despite this common presentation, correctly diagnosing... (Meta-Analysis)
Meta-Analysis Review
Acute appendicitis is the most common condition that presents with an acute abdomen needing emergency surgery. Despite this common presentation, correctly diagnosing appendicitis remains a challenge as clinical signs or positive blood results can be absent in 55% of the patients. The reported proportion of missed diagnoses of appendicitis ranges between 20% and 40%. A delay or mis-diagnosis of appendicitis can result in severe complications such as perforation, abscess formation, sepsis, and intra-abdominal adhesions. Literature has shown that patients who had a negative appendectomy suffer post-op complications and infections secondary to hospital stays; there have even been reported cases of fatality. It is therefore crucial that timely and accurate diagnosis of appendicitis is achieved to avoid complications of both non-operating as well as unnecessary surgical intervention. The aim of this review is to systematically report and analyse the latest evidence on the different approaches used in diagnosing appendicitis. We include discussions of clinical scoring systems, laboratory tests, latest innovative bio-markers and radiological imaging.
Topics: Acute Disease; Adult; Appendectomy; Appendicitis; Appendix; Biomarkers; Diagnosis, Differential; Female; Humans; Male; Sensitivity and Specificity
PubMed: 28279749
DOI: 10.1016/j.ijsu.2017.03.013 -
The Indian Journal of Tuberculosis Jan 2021Early diagnosis and treatment of tuberculosis is of vital importance both to cure patients and to reduce transmission for effective control of tuberculosis, It is...
BACKGROUND
Early diagnosis and treatment of tuberculosis is of vital importance both to cure patients and to reduce transmission for effective control of tuberculosis, It is important to know whether tuberculosis is diagnosed in time and also what causes delay if any.
OBJECTIVES
The study was conducted with the objective of knowing the time taken to diagnose tuberculosis from the onset of symptoms and to identify the causes for delay if any.
METHODS
A study was conducted in the District of Malapppuram Kerala, South India among newly diagnosed smear positive tuberculosis patients. 489 patients were interviewed soon after diagnosis and their socio-demographic characteristics and details from onset of symptoms to diagnosis were collected using a structured format.
RESULTS
The mean time taken by the patient for consultation after onset was 36 days and the mean time for diagnosis was 42 days and total time until diagnosis was 78 days. 72.8% patients consult within 6 weeks of onset and 74.7% are diagnosed within 6 weeks of consultation. The delay for diagnosis was more with private institutions. Diagnosis took less time when government facilities are consulted and when cough was a prominent symptom. Socio demographic factors are seen not affecting the time.
CONCLUSIONS
There is delay in diagnosing tuberculosis especially with private health providers and more efforts are required to reduce the same.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Delayed Diagnosis; Demography; Female; Health Services Accessibility; Humans; India; Interviews as Topic; Male; Middle Aged; Socioeconomic Factors; Time Factors; Tuberculosis, Pulmonary; Young Adult
PubMed: 33641852
DOI: 10.1016/j.ijtb.2020.09.008