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1.
CA Cancer J Clin ; 69(5): 402-429, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31283845

RESUMO

Mesothelioma affects mostly older individuals who have been occupationally exposed to asbestos. The global mesothelioma incidence and mortality rates are unknown, because data are not available from developing countries that continue to use large amounts of asbestos. The incidence rate of mesothelioma has decreased in Australia, the United States, and Western Europe, where the use of asbestos was banned or strictly regulated in the 1970s and 1980s, demonstrating the value of these preventive measures. However, in these same countries, the overall number of deaths from mesothelioma has not decreased as the size of the population and the percentage of old people have increased. Moreover, hotspots of mesothelioma may occur when carcinogenic fibers that are present in the environment are disturbed as rural areas are being developed. Novel immunohistochemical and molecular markers have improved the accuracy of diagnosis; however, about 14% (high-resource countries) to 50% (developing countries) of mesothelioma diagnoses are incorrect, resulting in inadequate treatment and complicating epidemiological studies. The discovery that germline BRCA1-asssociated protein 1 (BAP1) mutations cause mesothelioma and other cancers (BAP1 cancer syndrome) elucidated some of the key pathogenic mechanisms, and treatments targeting these molecular mechanisms and/or modulating the immune response are being tested. The role of surgery in pleural mesothelioma is controversial as it is difficult to predict who will benefit from aggressive management, even when local therapies are added to existing or novel systemic treatments. Treatment outcomes are improving, however, for peritoneal mesothelioma. Multidisciplinary international collaboration will be necessary to improve prevention, early detection, and treatment.


Assuntos
Antineoplásicos Imunológicos/uso terapêutico , Biomarcadores Tumorais/análise , Mesotelioma/terapia , Neoplasias Pleurais/terapia , Pneumonectomia/métodos , Amianto/efeitos adversos , Austrália/epidemiologia , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Carcinogênese/induzido quimicamente , Carcinogênese/genética , Carcinogênese/patologia , Terapia Combinada/métodos , Erros de Diagnóstico , Europa (Continente)/epidemiologia , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Carga Global da Doença , Humanos , Incidência , Exposição por Inalação/efeitos adversos , Cooperação Internacional , Mesotelioma/diagnóstico , Mesotelioma/epidemiologia , Mesotelioma/etiologia , Terapia de Alvo Molecular/métodos , Exposição Ocupacional/efeitos adversos , Pleura/efeitos dos fármacos , Pleura/patologia , Pleura/cirurgia , Neoplasias Pleurais/diagnóstico , Neoplasias Pleurais/epidemiologia , Neoplasias Pleurais/etiologia , Prognóstico , Proteínas Supressoras de Tumor/genética , Proteínas Supressoras de Tumor/metabolismo , Ubiquitina Tiolesterase/genética , Ubiquitina Tiolesterase/metabolismo , Estados Unidos/epidemiologia
2.
Nature ; 581(7809): 428-433, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32461641

RESUMO

After severe brain injury, it can be difficult to determine the state of consciousness of a patient, to determine whether the patient is unresponsive or perhaps minimally conscious1, and to predict whether they will recover. These diagnoses and prognoses are crucial, as they determine therapeutic strategies such as pain management, and can underlie end-of-life decisions2,3. Nevertheless, there is an error rate of up to 40% in determining the state of consciousness in patients with brain injuries4,5. Olfaction relies on brain structures that are involved in the basic mechanisms of arousal6, and we therefore hypothesized that it may serve as a biomarker for consciousness7. Here we use a non-verbal non-task-dependent measure known as the sniff response8-11 to determine consciousness in patients with brain injuries. By measuring odorant-dependent sniffing, we gain a sensitive measure of olfactory function10-15. We measured the sniff response repeatedly over time in patients with severe brain injuries and found that sniff responses significantly discriminated between unresponsive and minimally conscious states at the group level. Notably, at the single-patient level, if an unresponsive patient had a sniff response, this assured future regaining of consciousness. In addition, olfactory sniff responses were associated with long-term survival rates. These results highlight the importance of olfaction in human brain function, and provide an accessible tool that signals consciousness and recovery in patients with brain injuries.


Assuntos
Lesões Encefálicas/diagnóstico , Lesões Encefálicas/fisiopatologia , Estado de Consciência/fisiologia , Percepção Olfatória/fisiologia , Estado Vegetativo Persistente/diagnóstico , Estado Vegetativo Persistente/fisiopatologia , Olfato/fisiologia , Adulto , Nível de Alerta , Erros de Diagnóstico/prevenção & controle , Feminino , Humanos , Masculino , Odorantes/análise , Prognóstico , Recuperação de Função Fisiológica/fisiologia , Sensibilidade e Especificidade , Análise de Sobrevida
3.
Proc Natl Acad Sci U S A ; 120(34): e2221473120, 2023 08 22.
Artigo em Inglês | MEDLINE | ID: mdl-37579152

RESUMO

Collective intelligence has emerged as a powerful mechanism to boost decision accuracy across many domains, such as geopolitical forecasting, investment, and medical diagnostics. However, collective intelligence has been mostly applied to relatively simple decision tasks (e.g., binary classifications). Applications in more open-ended tasks with a much larger problem space, such as emergency management or general medical diagnostics, are largely lacking, due to the challenge of integrating unstandardized inputs from different crowd members. Here, we present a fully automated approach for harnessing collective intelligence in the domain of general medical diagnostics. Our approach leverages semantic knowledge graphs, natural language processing, and the SNOMED CT medical ontology to overcome a major hurdle to collective intelligence in open-ended medical diagnostics, namely to identify the intended diagnosis from unstructured text. We tested our method on 1,333 medical cases diagnosed on a medical crowdsourcing platform: The Human Diagnosis Project. Each case was independently rated by ten diagnosticians. Comparing the diagnostic accuracy of single diagnosticians with the collective diagnosis of differently sized groups, we find that our method substantially increases diagnostic accuracy: While single diagnosticians achieved 46% accuracy, pooling the decisions of ten diagnosticians increased this to 76%. Improvements occurred across medical specialties, chief complaints, and diagnosticians' tenure levels. Our results show the life-saving potential of tapping into the collective intelligence of the global medical community to reduce diagnostic errors and increase patient safety.


Assuntos
Crowdsourcing , Inteligência , Humanos , Erros de Diagnóstico
4.
Clin Infect Dis ; 78(6): 1403-1411, 2024 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-38298158

RESUMO

BACKGROUND: Inappropriate diagnosis of infections results in antibiotic overuse and may delay diagnosis of underlying conditions. Here we describe the development and characteristics of 2 safety measures of inappropriate diagnosis of urinary tract infection (UTI) and community-acquired pneumonia (CAP), the most common inpatient infections on general medicine services. METHODS: Measures were developed from guidelines and literature and adapted based on data from patients hospitalized with UTI and CAP in 49 Michigan hospitals and feedback from end-users, a technical expert panel (TEP), and a patient focus group. Each measure was assessed for reliability, validity, feasibility, and usability. RESULTS: Two measures, now endorsed by the National Quality Forum (NQF), were developed. Measure reliability (derived from 24 483 patients) was excellent (0.90 for UTI; 0.91 for CAP). Both measures had strong validity demonstrated through (a) face validity by hospital users, the TEPs, and patient focus group, (b) implicit case review (ĸ 0.72 for UTI; ĸ 0.72 for CAP), and (c) rare case misclassification (4% for UTI; 0% for CAP) due to data errors (<2% for UTI; 6.3% for CAP). Measure implementation through hospital peer comparison in Michigan hospitals (2017 to 2020) demonstrated significant decreases in inappropriate diagnosis of UTI and CAP (37% and 32%, respectively, P < .001), supporting usability. CONCLUSIONS: We developed highly reliable, valid, and usable measures of inappropriate diagnosis of UTI and CAP for hospitalized patients. Hospitals seeking to improve diagnostic safety, antibiotic use, and patient care should consider using these measures to reduce inappropriate diagnosis of CAP and UTI.


Assuntos
Infecções Comunitárias Adquiridas , Segurança do Paciente , Infecções Urinárias , Humanos , Infecções Urinárias/diagnóstico , Infecções Comunitárias Adquiridas/diagnóstico , Masculino , Feminino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Idoso , Michigan , Pneumonia/diagnóstico , Erros de Diagnóstico/estatística & dados numéricos , Antibacterianos/uso terapêutico , Adulto
5.
Cancer Sci ; 115(8): 2831-2838, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38763523

RESUMO

Histological diagnosis of sarcomas (malignant bone and soft tissue tumors) is challenging due to their rarity, morphological diversity, and constantly evolving diagnostic criteria. In this study, we aimed to assess the concordance in histological diagnosis of bone and soft tissue tumors between referring hospitals and a tertiary sarcoma center and analyzed the clinical impact of the diagnostic alteration. We analyzed 628 consecutively accessioned specimens from 624 patients who visited a specialized sarcoma center for treatment. The diagnoses at referring hospitals and those at the sarcoma center were compared and classified into four categories: agreed, disagreed, specified, and de-specified. Of the 628 specimens, the diagnoses agreed in 403 (64.2%) specimens, whereas some changes were made in 225 (35.8%) specimens: disagreed in 153 (24.3%), specified in 52 (8.3%), and de-specified in 20 (3.2%) cases. The benign/intermediate/malignant judgment changed for 92 cases (14.6%). The diagnostic change resulted in patient management modification in 91 cases (14.5%), including surgical and medical treatment changes. The main inferred reason for the diagnostic discrepancies was a different interpretation of morphological findings of the tumor, which accounted for 48.9% of the cases. This was followed by the unavailability of specialized immunohistochemical antibodies and the unavailability of genetic analysis. In summary, our study clarified the actual clinical impact of diagnostic discrepancy in bone and soft tissue tumors. This may underscore the value of pathology consultation, facilitating access to specialized diagnostic tools, and continued education. These measures are expected to improve diagnostic precision and ultimately benefit patients.


Assuntos
Neoplasias Ósseas , Encaminhamento e Consulta , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/diagnóstico , Sarcoma/patologia , Sarcoma/diagnóstico , Masculino , Feminino , Neoplasias Ósseas/patologia , Neoplasias Ósseas/diagnóstico , Pessoa de Meia-Idade , Adulto , Idoso , Adolescente , Adulto Jovem , Criança , Idoso de 80 Anos ou mais , Erros de Diagnóstico , Centros de Atenção Terciária , Pré-Escolar
6.
Breast Cancer Res Treat ; 207(1): 1-13, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38853221

RESUMO

PURPOSE: Artificial intelligence (AI) for reading breast screening mammograms could potentially replace (some) human-reading and improve screening effectiveness. This systematic review aims to identify and quantify the types of AI errors to better understand the consequences of implementing this technology. METHODS: Electronic databases were searched for external validation studies of the accuracy of AI algorithms in real-world screening mammograms. Descriptive synthesis was performed on error types and frequency. False negative proportions (FNP) and false positive proportions (FPP) were pooled within AI positivity thresholds using random-effects meta-analysis. RESULTS: Seven retrospective studies (447,676 examinations; published 2019-2022) met inclusion criteria. Five studies reported AI error as false negatives or false positives. Pooled FPP decreased incrementally with increasing positivity threshold (71.83% [95% CI 69.67, 73.90] at Transpara 3 to 10.77% [95% CI 8.34, 13.79] at Transpara 9). Pooled FNP increased incrementally from 0.02% [95% CI 0.01, 0.03] (Transpara 3) to 0.12% [95% CI 0.06, 0.26] (Transpara 9), consistent with a trade-off with FPP. Heterogeneity within thresholds reflected algorithm version and completeness of the reference standard. Other forms of AI error were reported rarely (location error and technical error in one study each). CONCLUSION: AI errors are largely interpreted in the framework of test accuracy. FP and FN errors show expected variability not only by positivity threshold, but also by algorithm version and study quality. Reporting of other forms of AI errors is sparse, despite their potential implications for adoption of the technology. Considering broader types of AI error would add nuance to reporting that can inform inferences about AI's utility.


Assuntos
Inteligência Artificial , Neoplasias da Mama , Mamografia , Humanos , Mamografia/métodos , Mamografia/normas , Feminino , Neoplasias da Mama/diagnóstico por imagem , Detecção Precoce de Câncer/métodos , Algoritmos , Reações Falso-Positivas , Erros de Diagnóstico , Reações Falso-Negativas
7.
J Clin Microbiol ; 62(1): e0084523, 2024 01 17.
Artigo em Inglês | MEDLINE | ID: mdl-37902329

RESUMO

Human infections with the protozoan Lophomonas have been increasingly reported in the medical literature over the past three decades. Initial reports were based on microscopic identification of the purported pathogen in respiratory specimens. Later, a polymerase chain reaction (PCR) was developed to detect Lophomonas blattarum, following which there has been a significant increase in reports. In this minireview, we thoroughly examine the published reports of Lophomonas infection to evaluate its potential role as a human pathogen. We examined the published images and videos of purported Lophomonas, compared its morphology and motility characteristics with host bronchial ciliated epithelial cells and true L. blattarum derived from cockroaches, analyzed the published PCR that is being used for its diagnosis, and reviewed the clinical data of patients reported in the English and Chinese literature. From our analysis, we conclude that the images and videos from human specimens do not represent true Lophomonas and are predominantly misidentified ciliated epithelial cells. Additionally, we note that there is insufficient clinical evidence to attribute the cases to Lophomonas infection, as the clinical manifestations are non-specific, possibly caused by other infections and comorbidities, and there is no associated tissue pathology attributable to Lophomonas. Finally, our analysis reveals that the published PCR is not specific to Lophomonas and can amplify DNA from commensal trichomonads. Based on this thorough review, we emphasize the need for rigorous scientific scrutiny before a microorganism is acknowledged as a novel human pathogen and discuss the potential harms of misdiagnoses for patient care and scientific literature.


Assuntos
Parabasalídeos , Infecções por Protozoários , Humanos , Infecções por Protozoários/diagnóstico , Erros de Diagnóstico
8.
Clin Endocrinol (Oxf) ; 101(3): 195-202, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38798198

RESUMO

BACKGROUND: Adrenal insufficiency (AI) is a life-threatening condition which requires long term glucocorticoid replacement. The insulin tolerance test (ITT) is the current gold standard test for diagnosis of secondary AI, but the widely accepted cut-off value of a peak cortisol of less than 500 nmol/L assumes that anyone who does not reach this value has AI and thus requires full replacement. The cut-off used to diagnose AI is also founded on outdated assays. Use of this cut-off in an era of more specific immunoassays therefore risks misdiagnosis, subsequent unnecessary glucocorticoid exposure and associated adverse effects with increased mortality risk. DESIGN, PATIENTS AND MEASUREMENTS: This retrospective analysis assessed 300 ITT cortisol responses using the Abbott Architect and Alinity analyser platforms in patients with suspected AI over a period of 12 years (August 2010 to January 2022), at a tertiary centre. RESULTS: Patients were classified as having AI or not, based on a comprehensive clinical review of electronic patient records from the point of test to the present day by a panel of pituitary and adrenal specialists. Using the current institutional cut-off value of 500 nmol/L, receiver operating characteristic analysis identified a 100.0% sensitivity and 43.6% specificity (area under the curve 0.979). Using a lower cortisol threshold value of 416 nmol/L on the Abbott analyser platform maintained a sensitivity of 100.0% and improved the specificity to 86.7%. CONCLUSION: This data supports lowering the Abbott analyser ITT peak cortisol threshold to 416 nmol/L. Use of this improved cut-off avoids unnecessary glucocorticoid replacement therapy in 104 (34.7%) of individuals in this study. All patients remained well with at least 1 year longitudinal follow up of glucocorticoid replacement.


Assuntos
Insuficiência Adrenal , Erros de Diagnóstico , Hidrocortisona , Humanos , Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/sangue , Estudos Retrospectivos , Hidrocortisona/sangue , Hidrocortisona/análise , Feminino , Pessoa de Meia-Idade , Masculino , Adulto , Erros de Diagnóstico/prevenção & controle , Idoso , Insulina , Glucocorticoides/uso terapêutico
9.
Eur J Nucl Med Mol Imaging ; 51(4): 1079-1084, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38030745

RESUMO

PURPOSE: To determine the association between workload and diagnostic errors on 18F-FDG-PET/CT. MATERIALS AND METHODS: This study included 103 18F-FDG-PET/CT scans with a diagnostic error that was corrected with an addendum between March 2018 and July 2023. All scans were performed at a tertiary care center. The workload of each nuclear medicine physician or radiologist who authorized the 18F-FDG-PET/CT report was determined on the day the diagnostic error was made and normalized for his or her own average daily production (workloadnormalized). A workloadnormalized of more than 100% indicates that the nuclear medicine physician or radiologist had a relative work overload, while a value of less than 100% indicates a relative work underload on the day the diagnostic error was made. The time of the day the diagnostic error was made was also recorded. Workloadnormalized was compared to 100% using a signed rank sum test, with the hypothesis that it would significantly exceed 100%. A Mann-Kendall test was performed to test the hypothesis that diagnostic errors would increase over the course of the day. RESULTS: Workloadnormalized (median of 121%, interquartile range: 71 to 146%) on the days the diagnostic errors were made was significantly higher than 100% (P = 0.014). There was no significant upward trend in the frequency of diagnostic errors over the course of the day (Mann-Kendall tau = 0.05, P = 0.7294). CONCLUSION: Work overload seems to be associated with diagnostic errors on 18F-FDG-PET/CT. Diagnostic errors were encountered throughout the entire working day, without any upward trend towards the end of the day.


Assuntos
Fluordesoxiglucose F18 , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Humanos , Masculino , Feminino , Tomografia por Emissão de Pósitrons , Erros de Diagnóstico , Estudos Retrospectivos
10.
J Gen Intern Med ; 39(8): 1386-1392, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38277023

RESUMO

BACKGROUND: Diagnostic errors cause significant patient harm. The clinician's ultimate goal is to achieve diagnostic excellence in order to serve patients safely. This can be accomplished by learning from both errors and successes in patient care. However, the extent to which clinicians grow and navigate diagnostic errors and successes in patient care is poorly understood. Clinically experienced hospitalists, who have cared for numerous acutely ill patients, should have great insights from their successes and mistakes to inform others striving for excellence in patient care. OBJECTIVE: To identify and characterize clinical lessons learned by experienced hospitalists from diagnostic errors and successes. DESIGN: A semi-structured interview guide was used to collect qualitative data from hospitalists at five independently administered hospitals in the Mid-Atlantic area from February to June 2022. PARTICIPANTS: 12 academic and 12 community-based hospitalists with ≥ 5 years of clinical experience. APPROACH: A constructivist qualitative approach was used and "reflexive thematic analysis" of interview transcripts was conducted to identify themes and patterns of meaning across the dataset. RESULTS: Five themes were generated from the data based on clinical lessons learned by hospitalists from diagnostic errors and successes. The ideas included appreciating excellence in clinical reasoning as a core skill, connecting with patients and other members of the health care team to be able to tap into their insights, reflecting on the diagnostic process, committing to growth, and prioritizing self-care. CONCLUSIONS: The study identifies key lessons learned from the errors and successes encountered in patient care by clinically experienced hospitalists. These findings may prove helpful for individuals and groups that are authentically committed to moving along the continuum from diagnostic competence towards excellence.


Assuntos
Erros de Diagnóstico , Médicos Hospitalares , Humanos , Médicos Hospitalares/normas , Erros de Diagnóstico/prevenção & controle , Masculino , Pesquisa Qualitativa , Feminino , Competência Clínica/normas
11.
Br J Dermatol ; 190(6): 789-797, 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38330217

RESUMO

The field of dermatology is experiencing the rapid deployment of artificial intelligence (AI), from mobile applications (apps) for skin cancer detection to large language models like ChatGPT that can answer generalist or specialist questions about skin diagnoses. With these new applications, ethical concerns have emerged. In this scoping review, we aimed to identify the applications of AI to the field of dermatology and to understand their ethical implications. We used a multifaceted search approach, searching PubMed, MEDLINE, Cochrane Library and Google Scholar for primary literature, following the PRISMA Extension for Scoping Reviews guidance. Our advanced query included terms related to dermatology, AI and ethical considerations. Our search yielded 202 papers. After initial screening, 68 studies were included. Thirty-two were related to clinical image analysis and raised ethical concerns for misdiagnosis, data security, privacy violations and replacement of dermatologist jobs. Seventeen discussed limited skin of colour representation in datasets leading to potential misdiagnosis in the general population. Nine articles about teledermatology raised ethical concerns, including the exacerbation of health disparities, lack of standardized regulations, informed consent for AI use and privacy challenges. Seven addressed inaccuracies in the responses of large language models. Seven examined attitudes toward and trust in AI, with most patients requesting supplemental assessment by a physician to ensure reliability and accountability. Benefits of AI integration into clinical practice include increased patient access, improved clinical decision-making, efficiency and many others. However, safeguards must be put in place to ensure the ethical application of AI.


The use of artificial intelligence (AI) in dermatology is rapidly increasing, with applications in dermatopathology, medical dermatology, cutaneous surgery, microscopy/spectroscopy and the identification of prognostic biomarkers (characteristics that provide information on likely patient health outcomes). However, with the rise of AI in dermatology, ethical concerns have emerged. We reviewed the existing literature to identify applications of AI in the field of dermatology and understand the ethical implications. Our search initially identified 202 papers, and after we went through them (screening), 68 were included in our review. We found that ethical concerns are related to the use of AI in the areas of clinical image analysis, teledermatology, natural language processing models, privacy, skin of colour representation, and patient and provider attitudes toward AI. We identified nine ethical principles to facilitate the safe use of AI in dermatology. These ethical principles include fairness, inclusivity, transparency, accountability, security, privacy, reliability, informed consent and conflict of interest. Although there are many benefits of integrating AI into clinical practice, our findings highlight how safeguards must be put in place to reduce rising ethical concerns.


Assuntos
Inteligência Artificial , Dermatologia , Humanos , Inteligência Artificial/ética , Dermatologia/ética , Dermatologia/métodos , Telemedicina/ética , Consentimento Livre e Esclarecido/ética , Confidencialidade/ética , Erros de Diagnóstico/ética , Erros de Diagnóstico/prevenção & controle , Segurança Computacional/ética , Dermatopatias/diagnóstico , Dermatopatias/terapia , Aplicativos Móveis/ética
12.
Br J Dermatol ; 191(2): 233-242, 2024 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-38595050

RESUMO

BACKGROUND: Lymphomatoid papulosis (LyP) is a rare cutaneous T-cell lymphoproliferative disorder. Comprehensive data on LyP in the paediatric population are scarce. OBJECTIVES: To characterize the epidemiological, clinical, histopathological and prognostic features of paediatric LyP. METHODS: This was a retrospective multicentre international cohort study that included 87 children and adolescents with LyP diagnosed between 1998 and 2022. Patients aged ≤ 18 years at disease onset were included. LyP diagnosis was made in each centre, based on clinicopathological correlation. RESULTS: Eighty-seven patients from 12 centres were included. Mean age at disease onset was 7.0 years (range 3 months-18 years) with a male to female ratio of 2 : 1. Mean time between the onset of the first cutaneous lesions and diagnosis was 1.3 years (range 0-14). Initial misdiagnosis concerned 26% of patients. LyP was most often misdiagnosed as pityriasis lichenoides et varioliformis acuta, insect bites or mollusca contagiosa. Erythematous papules or papulonodules were the most frequent clinical presentation. Pruritus was specifically mentioned in 21% of patients. The main histological subtype was type A in 55% of cases. When analysed, monoclonal T-cell receptor rearrangement was found in 77% of skin biopsies. The overall survival rate was 100%, with follow-up at 5 years available for 33 patients and at 15 years for 8 patients. Associated haematological malignancy (HM) occurred in 10% of cases (n = 7/73), including four patients with mycosis fungoides, one with primary cutaneous anaplastic large cell lymphoma (ALCL), one with systemic ALCL and one with acute myeloid leukaemia. If we compared incidence rates of cancer with the world population aged 0-19 years from 2001 to 2010, we estimated a significantly higher risk of associated malignancy in general, occurring before the age of 19 years (incidence rate ratio 87.49, 95% confidence interval 86.01-88.99). CONCLUSIONS: We report epidemiological data from a large international cohort of children and adolescents with LyP. Overall, the disease prognosis is good, with excellent survival rates for all patients. Owing to an increased risk of associated HM, long-term follow-up should be recommended for patients with LyP.


Lymphomatoid papulosis is a very rare skin condition caused by an abnormal increase in white blood cells (called 'lymphocytes') in the skin. The condition rarely affects children, so most of the scientific data published about this disease focuses on adults. This study involved 12 academic dermatology centres in Europe, the Middle East and North America, and gathered data from about 87 children who presented with symptoms of lymphomatoid papulosis before the age of 19 years. The aim of this study was to better describe this disease in the paediatric population and discuss its treatment options and evolution. We found that the presentation of the disease in children is roughly the same as in adults. Safe and effective treatment options exist. The disease is not life threatening, but it requires investigation by a dermatologist, both to make a careful diagnosis and to monitor it as sometimes associated cancers that originate from blood cells can occur, mostly on the skin.


Assuntos
Papulose Linfomatoide , Neoplasias Cutâneas , Humanos , Papulose Linfomatoide/patologia , Papulose Linfomatoide/epidemiologia , Masculino , Estudos Retrospectivos , Criança , Feminino , Adolescente , Pré-Escolar , Lactente , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/mortalidade , Idade de Início , Prognóstico , Erros de Diagnóstico/estatística & dados numéricos , Pitiríase Liquenoide/epidemiologia , Pitiríase Liquenoide/patologia , Pitiríase Liquenoide/diagnóstico , Mordeduras e Picadas de Insetos/epidemiologia , Mordeduras e Picadas de Insetos/complicações , Molusco Contagioso/epidemiologia , Molusco Contagioso/patologia , Molusco Contagioso/diagnóstico
13.
World J Urol ; 42(1): 68, 2024 Feb 03.
Artigo em Inglês | MEDLINE | ID: mdl-38308683

RESUMO

BACKGROUND: Urinary Tract Infections (UTIs) and Genital Tract Infections (GTIs) are common yet serious health concerns. Precise diagnosis is crucial due to the potential severe consequences of misdiagnosis. This study aims to distinguish between UTIs and GTIs, highlighting the importance of accurate differentiation. MATERIALS AND METHODS: The study encompassed 294 patients, categorized into 4 groups: Group GNI (no infection, N = 57), Group GUI (urinary infection, N = 52), Group GGI (genital infection, N = 139), and Group GGUI (both infections, N = 46). Methods included patient interviews, clinical examinations, and laboratory tests such as urine and vaginal swab cultures. RESULTS: The investigation revealed no significant differences in age, BMI, residency, or nationality across groups. However, socioeconomic status varied, with Group GNI having the lowest proportion of low socioeconomic status. In obstetrical characteristics, non-pregnancy rates were higher in Groups GUI and GGUI, with GGUI showing a notably higher abortion rate. Symptom analysis indicated lower symptom prevalence in Group GNI, with pain, itching, pruritus, and vaginal discharge being less frequent, suggesting a link between infection presence and symptom severity. Treatment patterns showed higher usage of ciprofloxacin, antifungals, and vaginal tablets in Groups GUI and GGUI. Laboratory findings highlighted significant Leucocyte Esterase presence and variations in WBC and RBC counts, particularly in Group GGUI. CONCLUSION: The study emphasizes the need for advanced diagnostic techniques, especially those focusing on individual microbial patterns, to enhance UGTI diagnosis. Variations in symptom presentation and treatment across groups underline the necessity for personalized diagnostic and treatment strategies.


Assuntos
Infecções do Sistema Genital , Infecções Urinárias , Feminino , Humanos , Infecções do Sistema Genital/diagnóstico , Infecções do Sistema Genital/tratamento farmacológico , Infecções do Sistema Genital/epidemiologia , Líbano/epidemiologia , Infecções Urinárias/diagnóstico , Infecções Urinárias/tratamento farmacológico , Infecções Urinárias/epidemiologia , Erros de Diagnóstico
14.
Pediatr Blood Cancer ; 71(7): e31024, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38706386

RESUMO

OBJECTIVE: Childhood spinal tumors often present with musculoskeletal symptoms, potentially causing a misdiagnosis and delays in diagnosis and treatment. This study aims to identify, characterize, and compare children with spinal tumors who had prior musculoskeletal misdiagnoses to those without, analyzing clinical presentation, diagnostic interval, and outcome. STUDY DESIGN: This retrospective cohort study evaluated all children aged 0-14 years diagnosed with a spinal tumor in Denmark from 1996 to 2018. The cohort was identified through the Danish Childhood Cancer Registry, and the registry data were supplemented with data from medical records. The survival was compared using the Kaplan-Meier method. RESULTS: Among 58 patients, 57% (33/58) received musculoskeletal misdiagnoses before the spinal tumor diagnosis. Misdiagnoses were mostly nonspecific (64%, 21/33), involving pain and accidental lesions, while 36% (12/33) were rheumatologic diagnoses. The patients with prior misdiagnosis had less aggressive tumors, fewer neurological/general symptoms, and 5.5 months median diagnostic interval versus 3 months for those without a misdiagnosis. Those with prior misdiagnoses tended to have a higher 5-year survival of 83% (95% confidence interval [CI]: 63%-92%) compared to 66% (95% CI: 44%-82%) for those without (p = .15). CONCLUSION: Less aggressive spinal tumors may manifest as gradual skeletal abnormalities and musculoskeletal symptoms without neurological/general symptoms, leading to misdiagnoses and delays.


Assuntos
Erros de Diagnóstico , Neoplasias da Coluna Vertebral , Humanos , Criança , Feminino , Masculino , Pré-Escolar , Estudos Retrospectivos , Lactente , Adolescente , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/mortalidade , Recém-Nascido , Doenças Musculoesqueléticas/diagnóstico , Doenças Musculoesqueléticas/mortalidade , Dinamarca/epidemiologia , Taxa de Sobrevida , Sistema de Registros , Prognóstico , Seguimentos
15.
AJR Am J Roentgenol ; 223(1): e2431635, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38923451

RESUMO

In this episode of the AJR Podcast Series on Diagnostic Excellence and Error, Francis Deng, MD, introduces the concept of diagnostic excellence and its relevance to radiologists. Patient-centered definitions of diagnostic error and conceptualizations of the diagnostic process are discussed.


In this episode of the AJR Podcast Series on Diagnostic Excellence and Error, Francis Deng, MD, introduces the concept of diagnostic excellence and its relevance to radiologists. Patient-centered definitions of diagnostic error and conceptualizations of the diagnostic process are discussed.


Assuntos
Erros de Diagnóstico , Humanos , Erros de Diagnóstico/prevenção & controle , Radiologia/normas , Competência Clínica
16.
BMC Infect Dis ; 24(1): 389, 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38605292

RESUMO

BACKGROUND: The diagnostic process is a key element of medicine but it is complex and prone to errors. Infectious diseases are one of the three categories of diseases in which diagnostic errors can be most harmful to patients. In this study we aimed to estimate the effect of initial misdiagnosis of the source of infection in patients with bacteraemia on 14 day mortality using propensity score methods to adjust for confounding. METHODS: Data from a previously described longitudinal cohort of patients diagnosed with monobacterial bloodstream infection (BSI) at the Leiden University Medical Centre (LUMC) between 2013 and 2015 were used. Propensity score matching and inversed probability of treatment weighting (IPTW) were applied to correct for confounding. The average treatment effect on the treated (ATT), which in this study was the average effect of initial misdiagnosis on the misdiagnosed (AEMM), was estimated. Methodological issues that were encountered when applying propensity score methods were addressed by performing additional sensitivity analyses. Sensitivity analyses consisted of varying caliper in propensity score matching and using different truncated weights in inversed probability of treatment weighting. RESULTS: Data of 887 patients were included in the study. Propensity scores ranged between 0.015 and 0.999 and 80 patients (9.9%) had a propensity score > 0.95. In the matched analyses, 35 of the 171 misdiagnosed patients died within 14 days (20.5%), versus 10 of the 171 correctly diagnosed patients (5.8%), yielding a difference of 14.6% (7.6%; 21.6%). In the total group of patients, the observed percentage of patients with an incorrect initial diagnosis that died within 14 days was 19.8% while propensity score reweighting estimated that their probability of dying would have been 6.5%, if they had been correctly diagnosed (difference 13.3% (95% CI 6.9%;19.6%)). After adjustment for all variables that showed disbalance in the propensity score a difference of 13.7% (7.4%; 19.9%) was estimated. Sensitivity analyses yielded similar results. However, performing weighted analyses without truncation yielded unstable results. CONCLUSION: Thus, we observed a substantial increase of 14 day mortality in initially misdiagnosed patients. Furthermore, several patients received propensity scores extremely close to one and were almost sure to be initially misdiagnosed.


Assuntos
Bacteriemia , Humanos , Pontuação de Propensão , Bacteriemia/diagnóstico , Erros de Diagnóstico
17.
Radiographics ; 44(7): e230059, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38843094

RESUMO

Cognitive biases are systematic thought processes involving the use of a filter of personal experiences and preferences arising from the tendency of the human brain to simplify information processing, especially when taking in vast amounts of data such as from imaging studies. These biases encompass a wide spectrum of thought processes and frequently overlap in their concepts, with multiple biases usually in operation when interpretive and perceptual errors occur in radiology. The authors review the gamut of cognitive biases that occur in radiology. These biases are organized according to their expected stage of occurrence while the radiologist reads and interprets an imaging study. In addition, the authors propose several additional cognitive biases that have not yet, to their knowledge, been defined in the radiologic literature but are applicable to diagnostic radiology. Case examples are used to illustrate potential biases and their impact, with emergency radiology serving as the clinical paradigm, given the associated high imaging volumes, wide diversity of imaging examinations, and rapid pace, which can further increase a radiologist's reliance on biases and heuristics. Potential strategies to recognize and overcome one's personal biases at each stage of image interpretation are also discussed. Awareness of such biases and their unintended effects on imaging interpretations and patient outcomes may help make radiologists cognizant of their own biases that can result in diagnostic errors. Identification of cognitive bias in departmental and systematic quality improvement practices may represent another tool to prevent diagnostic errors in radiology. ©RSNA, 2024 See the invited commentary by Larson in this issue.


Assuntos
Viés , Cognição , Erros de Diagnóstico , Humanos , Erros de Diagnóstico/prevenção & controle , Radiologia , Radiologistas
18.
Ultrasound Obstet Gynecol ; 64(1): 50-56, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38197302

RESUMO

OBJECTIVE: Image quality of fetal echocardiography (FE) has improved in the recent era, but few recent studies have reported the accuracy of FE, specifically in single ventricle (SV) congenital heart disease (CHD). This study aimed to assess the ability of FE to correctly predict SV-CHD postnatal anatomy and physiology in a contemporary cohort. METHODS: The contemporary clinical reports of patients with SV-CHD, in which FE was performed between July 2017 and July 2021, were compared with postnatal echocardiograms from a formal quality assurance program. SV fetuses were grouped by anatomical subtype. Diagnostic errors were designated as major if the error would have caused significant alteration in parental counseling or postnatal management. The remaining errors were classified as minor. Physiological discrepancies, including prostaglandin-E (PGE) dependency, atrioventricular valve regurgitation (AVVR), pulmonary venous obstruction and restrictive atrial septum (RAS), were assessed by chart review of the postnatal course. RESULTS: A total of 119 subjects were analyzed. SV subtypes in the cohort included hypoplastic left heart syndrome (HLHS) (n = 68), tricuspid atresia (n = 16), double-inlet left ventricle (n = 12), unbalanced atrioventricular canal (UAVC) (n = 11), heterotaxy (n = 9) and other (n = 3). The rate of major anatomical and physiological errors was low (n = 6 (5.0%)). A higher proportion of minor errors was noted in HLHS and tricuspid atresia, but the differences were not statistically significant. Physiological discrepancies were uncommon, with three major discrepancies, including underestimation of the degree of venous obstruction in one non-HLHS fetus with total anomalous pulmonary venous return, overestimation of RAS in one HLHS fetus and incorrect prediction of PGE dependency in one case false-negative for pulmonary blood flow. No discrepancy in degree of AVVR or RAS affected postnatal care. Minor physiological discrepancies included two false-positive predictions of PGE dependency with one false-positive for ductal-dependent systemic flow and one false-positive for pulmonary blood flow. CONCLUSIONS: In this contemporary review of FE at our center, there was high accuracy in describing anatomical and physiological findings in SV-CHD. Major physiological discrepancies were uncommon but included important cases of false-negative prediction of PGE dependency and underestimation of obstruction of total anomalous pulmonary venous return. These data can inform more accurate counseling of families with SV-CHD fetuses and guide diagnostic improvement efforts. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Ecocardiografia , Cardiopatias Congênitas , Ventrículos do Coração , Ultrassonografia Pré-Natal , Humanos , Feminino , Gravidez , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/embriologia , Ultrassonografia Pré-Natal/métodos , Ecocardiografia/métodos , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/embriologia , Ventrículos do Coração/anormalidades , Coração Fetal/diagnóstico por imagem , Coração Fetal/fisiopatologia , Coração Fetal/embriologia , Coração Fetal/anormalidades , Erros de Diagnóstico/estatística & dados numéricos , Estudos Retrospectivos , Estudos de Coortes , Adulto , Recém-Nascido
19.
BMC Cardiovasc Disord ; 24(1): 331, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38951773

RESUMO

BACKGROUND: Pulmonary embolisms (PEs) exhibit clinical features similar to those of acute coronary syndrome (ACS), including electrocardiographic abnormalities and elevated troponin levels, which frequently lead to misdiagnoses in emergency situations. CASE PRESENTATION: Here, we report a case of PE coinciding with chronic coronary syndrome in which the patient's condition was obscured by symptoms mimicking ACS. A 68-year-old female with syncope presented to the hospital. Upon admission, she was found to have elevated troponin levels and an electrocardiogram showing ST-segment changes across multiple leads, which initially led to a diagnosis of ACS. Emergency coronary arteriography revealed occlusion of the posterior branches of the left ventricle of the right coronary artery, but based on the complexity of the intervention, the occlusion was considered chronic rather than acute. On the 3rd day after admission, the patient experienced recurrent chest tightness and shortness of breath, which was confirmed as acute PE by emergency computed tomography pulmonary angiography. Following standardized anticoagulation treatment, the patient improved and was subsequently discharged. CONCLUSIONS: This case report highlights the importance of recognizing the nonspecific features of PE. Clinicians should be vigilant when identifying other clinical features that are difficult to explain accompanying the expected disease, and it is necessary to carefully identify the causes to prevent missed diagnoses or misdiagnoses.


Assuntos
Síndrome Coronariana Aguda , Anticoagulantes , Angiografia por Tomografia Computadorizada , Eletrocardiografia , Valor Preditivo dos Testes , Embolia Pulmonar , Humanos , Embolia Pulmonar/diagnóstico , Embolia Pulmonar/diagnóstico por imagem , Feminino , Idoso , Síndrome Coronariana Aguda/diagnóstico , Síndrome Coronariana Aguda/complicações , Síndrome Coronariana Aguda/diagnóstico por imagem , Diagnóstico Diferencial , Anticoagulantes/uso terapêutico , Angiografia Coronária , Doença Crônica , Resultado do Tratamento , Erros de Diagnóstico , Biomarcadores/sangue
20.
Trans Am Clin Climatol Assoc ; 134: 133-145, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39135584

RESUMO

Artificial intelligence (AI) in the form of ChatGPT has rapidly attracted attention from physicians and medical educators. While it holds great promise for more routine medical tasks, may broaden one's differential diagnosis, and may be able to assist in the evaluation of images, such as radiographs and electrocardiograms, the technology is largely based on advanced algorithms akin to pattern recognition. One of the key questions raised in concert with these advances is: What does the growth of artificial intelligence mean for medical education, particularly the development of critical thinking and clinical reasoning? In this commentary, we will explore the elements of cognitive theory that underlie the ways in which physicians are taught to reason through a diagnostic case and compare hypothetico-deductive reasoning, often employing illness scripts, with inductive reasoning, which is based on a deeper understanding of mechanisms of health and disease. Issues of cognitive bias and their impact on diagnostic error will be examined. The constructs of routine and adaptive expertise will also be delineated. The application of artificial intelligence to diagnostic problem solving, along with concerns about racial and gender bias, will be delineated. Using several case examples, we will demonstrate the limitations of this technology and its potential pitfalls and outline the direction medical education may need to take in the years to come.


Assuntos
Inteligência Artificial , Raciocínio Clínico , Humanos , Educação Médica/métodos , Resolução de Problemas , Competência Clínica , Cognição , Erros de Diagnóstico/prevenção & controle , Diagnóstico Diferencial , Pensamento , Tomada de Decisão Clínica
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