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Fever is a frequent and important symptom in patients with rheumatological diseases and can be an expression of activity of the underlying rheumatological disease. There is great variability in the incidence of fever as a symptom of the disease between individual diseases. The growing understanding of the molecular signatures of the diseases can help to explain these discrepancies: A genetic overactivation of potently pyrogenic cytokines is the reason why fever is nearly always present in autoinflammatory syndromes. In contrast, fever is less common in polyarthritis and myositis and mostly limited to severe courses of disease. In the diagnostic work-up of fever, frequent differential diagnoses, such as infections, malignancies, side effects of drugs and hypersensitivity reactions should be considered. This article provides an overview of the physiology of the development of fever, describes the relevance of fever in individual rheumatological diseases and proposes a workflow for the clinical clarification of rheumatological patients who present with fever.
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Febre , Doenças Reumáticas , Humanos , Doenças Reumáticas/complicações , Doenças Reumáticas/diagnóstico , Febre/diagnóstico , Febre/etiologia , Diagnóstico Diferencial , Febre de Causa Desconhecida/etiologia , Febre de Causa Desconhecida/diagnósticoRESUMO
Historical authors (e.g., Ludwig Binswanger and Eugène Minkowski) postulated that the experience of patients with schizophrenia is characterized by time fragmentation. From a clinical perspective, patients with schizophrenia also suffer from difficulties in spatial perception (e.g., abnormalities in the experience of interpersonal distance and spatial orientation). Although these changes can lead to a serious detachment from reality, to considerable suffering of the affected persons and to difficulties in the therapeutic process, the abnormal experience of space and time in psychotic disorders has not yet been sufficiently investigated. One possible reason is the lack of appropriate and standardized instruments that quantify the experience of space and time in patients with psychotic disorders. Based on an innovative concept, the so-called spatiotemporal psychopathology (STPP), a clinical rating scale for the systematic-quantitative assessment of spatial and temporal experience in patients with psychotic disorders was developed. This article presents the German version of the Scale for Space and Time Experience in Psychosis (STEP). The original English version of the STEP measures different spatial (14 phenomena) and temporal (11 phenomena) phenomena in 25 items. The STEP shows both a high internal consistency (Cronbach's alphaâ¯= 0.94) and a significant correlation with the Positive and Negative Syndrome Scale (PANSS; pâ¯< 0.001). In summary, the German version of the STEP scale presented here represents an important instrument in the German-speaking countries for the assessment of spatial and temporal experience in patients with psychotic disorders.
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Transtornos Psicóticos , Esquizofrenia , Humanos , Reprodutibilidade dos Testes , Esquizofrenia/diagnóstico , Esquizofrenia/terapia , Psicopatologia , Psicometria , Transtornos Psicóticos/diagnósticoRESUMO
STUDY OBJECTIVE: To develop and validate a nomogram for differentiating severe intrauterine adhesions (IUAs) from mild-to-moderate IUAs preoperatively on the basis of 3-dimensional transvaginal ultrasound (3D-TVUS). DESIGN: Retrospective observational study. SETTING: University-affiliated hospital. PATIENTS: A dataset of 413 patients who had undergone hysteroscopic adhesiolysis and 3D-TVUS examination before hysteroscopic adhesiolysis between March 2019 and December 2020. INTERVENTIONS: Not applicable. MEASUREMENTS AND MAIN RESULTS: A total of 212 patients with mild-to-moderate IUAs and 201 patients with severe IUAs were enrolled. Intercornual distance, endometrial thickness, number of visible fallopian tubal ostia, echoes of the endometrial-myometrial junction zone, and endometrial blood flow grade differed significantly between the severe and mild-to-moderate IUAs groups. The area under the receiver operating characteristic curve of the nomogram was 0.880 (95% confidence interval, 0.843-0.918) in the training set and 0.878 (95% confidence interval, 0.818-0.939) in the validation set, revealing reliable discrimination. The calibration curve and Hosmer-Lemeshow test showed strong calibration, and decision curve analysis indicated that the nomogram had a high net benefit and a wide range of threshold probabilities. CONCLUSION: This nomogram, which was developed on the basis of 3D-TVUS, can accurately distinguish severe IUAs from mild-to-moderate IUAs preoperatively.
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Histeroscopia , Doenças Uterinas , Diagnóstico Diferencial , Feminino , Humanos , Histeroscopia/métodos , Nomogramas , Gravidez , Aderências Teciduais/diagnóstico por imagem , Aderências Teciduais/cirurgia , Doenças Uterinas/diagnóstico por imagem , Doenças Uterinas/cirurgiaRESUMO
OBJECTIVE: The aim is to establish diagnostic and differential-diagnostic criteria for UC and IBS based on a complex morphological (histological, histochemical, immunohistochemical) study. PATIENTS AND METHODS: Materials and methods: In this study, it was used autopsy and biopsy material - fragments of the mucous membrane of the large intestine. The material was divided into 5 groups. The first group (G 1) included autopsy material from 6 cases, in which, during autopsies and microscopic examination, we found no general pathological processes in the gastrointestinal tract. The second group (G 2) included biopsy material from 34 patients with diagnosed UC of the 1st activity degree. The third group (G 3) included the biopsy material of 27 patients with UC of the 2nd degree of activity. The fourth group (G 4) included biopsy material from 19 patients, diagnosed with UC of the 3rd degrees of activity. The fifth group (G 5) included biopsy material from 82 patients with clinically diagnosed IBS. Histological, histochemical, immunohistochemical, statistical research methods were used. RESULTS: Results: There are characteristic morphological changes in the mucous membrane of the large intestine in UC of varying degrees of activity, such as changes in the architectonics of crypts of varying severity; presence of erosive and ulcerative defects. Inflammatory and desquamative-dystrophic changes take place in the epithelial layer adjacent to erosive and ulcerative defects. The number of goblet cells of crypts decreases and the size of vacuoles in goblet cells reduces. The intensity of mucin secretion contained in the vacuoles of the goblet cells lowers; there is a partial or complete loss of pericryptal myofibroblasts; the proliferative potential of the intestinal crypts epithelium activates. CONCLUSION: Conclusions: Differential diagnostic criteria, revealed by the author, improve the morphological diagnosis of UC and IBS, optimizing the tactics of managing patients with this colorectal pathology.
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Colite Ulcerativa , Síndrome do Intestino Irritável , Biópsia , Colite Ulcerativa/diagnóstico , Humanos , Mucosa Intestinal , Síndrome do Intestino Irritável/diagnósticoRESUMO
CLINICAL/METHODICAL ISSUE: Cystic pancreatic lesions (CPL) are diagnosed with increasing frequency. Because up to 60% of CPL are classified as malignant or premalignant, every CPL should be fully investigated and clarified. Serous CPL with low risk of malignancy must be differentiated from mucinous CPL with relevant potential malignancy (intraductal papillary mucinous neoplasm IPMN) and mucinous cystic neoplasm (MCN) as well as from harmless pseudocysts. STANDARD RADIOLOGICAL METHODS: Cross-sectional imaging with computed tomography (CT) and magnetic resonance imaging (MRI) plays a crucial role in the diagnostics of CPL. METHODICAL INNOVATIONS: An algorithm for the differential diagnostic classification of CPL is presented. PERFORMANCE: The connection to the pancreatic duct is the key diagnostic criterion to differentiate IPMN from all other CPL. An exception to this rule is that pseudocysts can also show a connection to the pancreatic duct. A further classification of CPL with no connection to the pancreatic duct can be made by morphological criteria and correlation of the radiological findings with patient age, sex, history and symptoms. PRACTICAL RECOMMENDATIONS: Depending on the diagnosis and hence the malignant potential the indications for surgery or watch and wait have to be discussed in an interdisciplinary cooperation. Due to its higher soft tissue contrast MRI is often superior to CT for depiction of CPL morphology.
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Imageamento por Ressonância Magnética/métodos , Pancreatectomia/métodos , Cisto Pancreático/diagnóstico por imagem , Cisto Pancreático/patologia , Cisto Pancreático/terapia , Tomografia Computadorizada por Raios X/métodos , Medicina Baseada em Evidências , Humanos , Imagem Multimodal/métodos , Cuidados Pré-Operatórios/métodos , Prognóstico , Resultado do TratamentoRESUMO
The mediastinum is a complex body region of limited space but containing numerous organs of different embryonic origins. A variety of lesions that are difficult to distinguish from each other can occur here. Non-neoplastic lesions of the mediastinum represent important differential diagnostic pitfalls to mediastinal tumors, clinically, radiologically and histopathologically. It is important to bear these lesions in mind and to adequately verify or exclude them before starting further differential diagnostic considerations on mediastinal neoplasms. The most common non-neoplastic lesions in this region include cysts and lymphadenopathies. Mediastinal cysts result from abnormal events in the branching of the tracheobronchial tree, the pharyngeal pouches, the primary intestines, the pleuropericardial membranes and the brain meninges or are complications of inflammatory and hydrostatic processes. The histogenesis of the lining epithelium and the cyst wall structure are decisive for the exact classification. The histopathologically most prevalent patterns of mediastinal lymphadenopathies are those accompanied by increased histiocytes and Castleman's disease. Sclerosis is a non-specific reaction pattern of the mediastinum and can be associated with many processes; therefore, when establishing the diagnosis of sclerosing mediastinitis, several differential diagnoses have to be excluded. Simple thymic hyperplasia can be accompanied by considerable increase in organ size with severe local symptoms, while follicular thymic hyperplasia is often associated with myasthenia gravis and represents the most common findings in non-thymoma thymectomy specimens.
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Cisto Mediastínico/diagnóstico , Doenças do Mediastino/diagnóstico , Coristoma/diagnóstico , Coristoma/patologia , Diagnóstico Diferencial , Humanos , Linfadenopatia/diagnóstico , Linfadenopatia/patologia , Cisto Mediastínico/patologia , Doenças do Mediastino/patologia , Neoplasias do Mediastino/diagnóstico , Neoplasias do Mediastino/patologia , Mediastinite/diagnóstico , Mediastinite/patologia , Mediastino/patologia , Esclerose/diagnóstico , Esclerose/patologia , Hiperplasia do Timo/diagnóstico , Hiperplasia do Timo/patologiaRESUMO
OBJECTIVE: This study aimed to develop nomogram prediction models to differentiate between adult-onset Still's disease (AOSD) and sepsis. METHODS: We retrospectively collected laboratory test data from 107 hospitalized patients with AOSD and sepsis at the Affiliated Hospital of Xuzhou Medical University. Multivariate binary logistic regression was used to develop nomogram models using arthralgia, WBC, APTT, creatinine, PLT, and ferritin as independent factors. The performance of the model was evaluated by the bootstrap consistency index and calibration curve. RESULTS: Model 1 had an AUC of 0.98 (95% CI, 0.96-1.00), specificity of 0.98, and sensitivity of 0.94. Model 2 had an AUC of 0.96 (95% CI, 0.93-1.00), specificity of 0.92, and sensitivity of 0.94. The fivefold cross-validation yielded an accuracy (ACC) of 0.92 and a kappa coefficient of 0.83 for Model 1, while for Model 2, the ACC was 0.87 and the kappa coefficient was 0.74. CONCLUSION: The nomogram models developed in this study are useful tools for differentiating between AOSD and sepsis. Key Points ⢠The differential diagnosis between AOSD and sepsis has always been a challenge ⢠Delayed treatment of AOSD may lead to serious complications ⢠We developed two nomogram models to distinguish AOSD from sepsis, which were not previously reported ⢠Our models can be used to guide clinical practice with good discrimination.
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Sepse , Doença de Still de Início Tardio , Adulto , Humanos , Estudos Retrospectivos , Nomogramas , Doença de Still de Início Tardio/diagnóstico , Sepse/diagnóstico , Diagnóstico DiferencialRESUMO
BACKGROUND: Clinicians often lack the necessary expertise to differentially diagnose multiple underlying rare diseases (RDs) due to their complex and overlapping clinical features, leading to misdiagnoses and delayed treatments. The aim of this study is to develop a novel electronic differential diagnostic support system for RDs. METHOD: Through integrating two Bayesian diagnostic methods, a candidate list was generated with enhance clinical interpretability for the further Q&A based differential diagnosis (DDX). To achieve an efficient Q&A dialogue strategy, we introduce a novel metric named the adaptive information gain and Gini index (AIGGI) to evaluate the expected gain of interrogated phenotypes within real-time diagnostic states. RESULTS: This DDX tool called RDmaster has been implemented as a web-based platform (http://rdmaster.nbscn.org/). A diagnostic trial involving 238 published RD patients revealed that RDmaster outperformed existing RD diagnostic tools, as well as ChatGPT, and was shown to enhance the diagnostic accuracy through its Q&A system. CONCLUSIONS: The RDmaster offers an effective multi-omics differential diagnostic technique and outperforms existing tools and popular large language models, particularly enhancing differential diagnosis in collecting diagnostically beneficial phenotypes.
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Diclorodifenil Dicloroetileno , Doenças Raras , Humanos , Doenças Raras/diagnóstico , Doenças Raras/genética , Diagnóstico Diferencial , Teorema de Bayes , FenótipoRESUMO
BACKGROUND: Cesarean scar pregnancy (CSP) refers to the phenomenon in which a fertilized egg implants and develops in the scar of the uterus in a woman with a history of cesarean section. OBJECTIVE: The study aimed to explore the differential diagnostic value of two-dimensional ultrasound (2D US) combined with three-dimensional ultrasound (3D US) for CSP. METHODS: Clinical data of 89 patients with CSP admitted to our hospital from January 2022 to January 2023 were retrospectively analyzed. Of them, 65 patients met the inclusion criteria. Patients underwent 2D US, 3D US, and combined 2D and 3D US imaging. Using the clinical pathological diagnosis as the "gold standard", the differential diagnostic value of 2D US, 3D US, and 2D US combined with 3D US for CSP was compared. RESULTS: The detection rate of CSP using a combined 2D US and 3D US was 98.46%, which was higher than 84.62% and 89.23% achieved with 2D US and 3D US alone, respectively (P<0.05). The pathological results showed that among 65 patients, CSP type I accounted for 24.62%, type II accounted for 55.38%, and type III accounted for 20.00%. The coincidence rate of 2D US combined with 3D US was 98.46%, which was higher than that of 2D US (83.08%) and 3D US 89.23%) alone (P<0.05). The accuracy, specificity, and sensitivity of 2D US combined with 3D US in diagnosing CSP were higher compared to the two methods alone (P<0.05). CONCLUSION: The combination of 2D US and 3D US can accurately detect and classify CSP, further improving diagnostic efficiency.
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Cesárea , Gravidez Ectópica , Gravidez , Humanos , Feminino , Cesárea/efeitos adversos , Estudos Retrospectivos , Cicatriz/diagnóstico por imagem , Gravidez Ectópica/diagnóstico por imagem , Gravidez Ectópica/etiologia , Ultrassonografia/métodosRESUMO
Introduction: Multiple system atrophy (MSA) is a rapidly progressing neurodegenerative disorder. Although diverse biomarkers have been established for Parkinson's disease (PD), no widely accepted markers have been identified in MSA. Pyruvate and lactate are the end-product of glycolysis and crucial for brain metabolism. However, their correlation with MSA remains unclear. Moreover, it is elusive how lifestyles modify these metabolites. Methods: To investigate the correlation and diagnostic value of plasma pyruvate and lactate levels in MSA and PD. Moreover, we explored how lifestyle-related metabolites interact with these metabolites in determining the disease risk. We assayed the 3 metabolites in pyruvate/lactate and 6 in the tea/coffee metabolic pathways by targeted mass spectrometry and evaluate their interactions and performance in diagnosis and differentiation between MSA and PD. Results: We found that 7 metabolites were significantly different between MSA, PD and healthy controls (HCs). Particularly, pyruvate was increased in PD while significantly decreased in MSA patients. Moreover, the tea/coffee metabolites were negatively associated with the pyruvate level in HCs, but not in MSA and PD patients. Using machine-learning models, we showed that the combination of pyruvate and tea/coffee metabolites diagnosed MSA (AUC = 0.878) and PD (AUC = 0.833) with good performance. Additionally, pyruvate had good performance in distinguishing MSA from PD (AUC = 0.860), and the differentiation increased (AUC = 0.922) when combined with theanine and 1,3-dimethyluric acid. Conclusions: This study demonstrates that pyruvate correlates reversely with MSA and PD, and may play distinct roles in their pathogenesis, which can be modified by lifestyle-related tea/coffee metabolites.
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AIM: To investigate the ability of critical care nurses to identify pressure injury and incontinence-associated dermatitis and analyse the possible influencing factors. DESIGN: Cross-sectional survey. METHODS: This study was conducted at 24 hospitals across 12 provinces in China. A self-made electronic questionnaire was used. Nurses identified and judged injuries according to the information provided. RESULTS: The average identification score for pressure injury and incontinence-associated dermatitis was 9.00 ± 3.51 points, and only 2.16% of nurses scored ≥16 points. The average correct identification rate for pressure injury and incontinence-associated dermatitis was 45%. The correct identification rate for stage 1 pressure injury was the highest, while those for stage 3, stage 4, deep tissue pressure injury and unstageable pressure injury were all lower than 50%; incontinence-associated dermatitis was also easily misjudged. Nurses' educational backgrounds, professional titles, job positions, hospital levels and learning frequency were the factors that affected their ability to identify pressure injury and incontinence-associated dermatitis.
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Lesões por Esmagamento , Dermatite , Incontinência Fecal , Enfermeiras e Enfermeiros , Úlcera por Pressão , Incontinência Urinária , Humanos , Úlcera por Pressão/etiologia , Estudos Transversais , Incontinência Fecal/complicações , Incontinência Urinária/complicações , Cuidados Críticos , Dermatite/etiologiaRESUMO
BACKGROUND: Differentiating metastatic cervical cancer from another primary tumor can be difficult in patients with a history of cervical cancer and a distant lesion. The use of routine HPV molecular detection and genotyping tests could help in these cases. The objective of this study was to identify if an easy-to-use HPV molecular genotyping assay would allow differentiating between HPV tumor metastasis and a new independent primary non-HPV-induced tumor. MATERIALS AND METHODS: Between 2010 and 2020, we identified patients with a primary cervical carcinoma who also had another secondary lesion. This identification included a clinical and histologic differential diagnosis of metastatic cervical cancer versus a new primary cancer or metastatic cancer from another site. We used a routine multiplex real-time PCR (rt-PCR) AnyplexTM II HPV28 (Seegene, Seoul, Republic of Korea) to detect the high-risk (HR)-HPV genome in the distant lesions in these patients. RESULTS: Eight cases of cervical cancer with a new secondary lesion were identified. In seven, HR-HPV DNA was detected in the biopsy of the distant lesion, which confirmed the diagnosis of cervical cancer metastasis. In the remaining case, no HPV was detected in the secondary lung biopsy, confirming the diagnosis of new primary lung cancer. CONCLUSION: Our results pave the way for HPV molecular genotyping use in cases of newly diagnosed distant lesions in patients with a history of HPV cervical neoplasia by using a routine diagnosis process to complete the clinical and histologic differential diagnosis when confronted with ambiguous situations.
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BACKGROUND AND AIMS: Human epididymal protein 4 (HE4) may be a useful tool in the differential diagnosis of malignant ascites. The aim of this study was to evaluate the diagnostic utility of HE4 for detecting malignant ascites, taking into account the possible false positives identified with adenosine deaminase (ADA), C-reactive protein (CRP), % polynuclear cells (%PMN) and glomerular filtration rate (eGFR). METHODS: Concentrations of HE4, ADA, %PMN and CRP were determined in 114 samples of peritoneal fluid and creatinine in serum in order to calculate eGFR. RESULTS: Concentrations of HE4 presented significant differences (P = 0.028) in benign [median (interquartile range)] [582(372)] pmol/L) and malignant ascites ([8241(367)] pmol/L. Sensitivity was 21.2% and specificity 100%. Significant differences were also observed for HE4 between tumors of gynecological origin ([3165(8769)] pmol/L) and others ([665(663)] pmol/L), with a sensitivity of 67% and a specificity of 100%. Classifying according to possible false positives (ADA > 45U/L, CRP > 50 mg/L, %PMN > 90 and eGFR < 30 mL/min/1.73 m2) at maximum specificity, a sensitivity of 33.3% was obtained for HE4, with a cut-off point of 2660 pmol/L. Without possible false positives (ADA < 45U/L, CRP < 50 mg/L, %PMN < 90 and eGFR ≥ 30 mL/min/1.73 m2), a sensitivity of 37.7% was obtained at 100% specificity for a cut-off point of 1041 pmol/L. Applying these criteria to the entire group, a sensitivity of 36.4% was obtained at maximum specificity. CONCLUSIONS: HE4 allows the identification of malignant ascites with moderate sensitivity at maximum specificity. HE4 levels can differentiate between tumors of gynecological origin and others. Classification according to possible false positives increases sensitivity without losing specificity.
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Hepatic small vessel neoplasm (HSVN) is a recently described vascular neoplasm of the liver. It demonstrates an infiltrative growth pattern and lacks cytologic atypia and mitotic activity. So far, no cases of metastasis or disease recurrence after excision have been reported in the literature. In this report, we present the case of a 31-year-old woman with a lesion in segments VII-VIII of the liver who was referred to our surgical department due to right lumbar pain. She underwent an atypical wedge hepatectomy (segments VII, VIII) and cholecystectomy. The histopathology of the resected specimen confirmed a 40mm HSVN. The patient did not receive any adjuvant therapy and is scheduled for follow-up with serial magnetic resonance imaging (MRI) scans over the next five years due to the unknown malignant potential of the tumor.
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OBJECT: The cognitive complaints encountered in late-life depression (LLD) make it difficult to distinguish from amnestic mild cognitive impairment (aMCI) and Alzheimer's disease (AD) based on an analysis of neurocognitive disorders. The hypothesis of the early impairment of semantic memory in AD and aMCI is considered a potential differential cognitive clue, but the absence of this impairment has not yet been confirmed in LLD. METHOD: Based on the PRISMA method, we systematically seek neuropsychological assessments of individuals with LLD, the present study included 31 studies representing 3291 controls and 2820 people with LLD. Wherever possible, studies that tested simultaneously groups with LLD, AD (or aMCI) were also included. The results of the group of neuropsychological tasks relying on semantic memory were analyzed in two groups of tasks with high- or low-executive demand. The mean average effect of LLD was calculated and compared to the incremental effect of aMCI or AD on the scores. Linear regressions including education, age, and severity and type of depression were run to seek their power of prediction for the mean average effects. RESULTS: LLD has a medium effect on scores at semantic and phonemic fluency and naming and a small average effect on the low-executive demand tasks. Differences in education is a predictor of the effect of LLD on phonemic fluency and naming but not on semantic fluency or on low-executive demand tasks. Except for semantic fluency, aMCI did not demonstrate an incremental effect on the scores compared to LLD, while AD did, for all the tasks except phonemic fluency. CONCLUSION: Assessment of semantic memory can be a discriminating clue for the distinction between depression and Alzheimer's disease but some methodological variables are highly influential to the scores, especially education. However, high-executive semantic tasks alone do not allow us to clearly distinguish LLD from AD or aMCI, as both pathologies seem to have a largely dialectical influential relationship, but low-executive semantic tasks appear as more sensible to this pathological distinction.
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OBJECTIVE: Distinguishing spinal tuberculosis and pyogenic spinal infection is extremely important. The neutrophil-lymphocyte ratio (NLR), a simple indicator, has been shown to be a novel inflammatory marker. The objective of our study was to determine whether the NLR could be a potential indicator for discriminating spinal tuberculosis (STB) from pyogenic spinal infection (PSI). METHODS: We compared the clinical and laboratory characteristics of 146 patients diagnosed with STB and 60 participants with PSI from the First Affiliated Hospital of Nanjing Medical University. The NLR's diagnostic ability for differential diagnosis was assessed and compared to other hematological indicators, including the platelet-lymphocyte ratio (PLR). RESULTS: The NLR in STB patients was considerably lower than that in PSI patients [3.85 (2.70-5.71) vs. 10.82 (6.79-17.62), P < 0.001]. An NLR of 6.742 was proposed as an optimal cutoff value for distinguishing patients with STB from those with PSI (sensitivity 78.33%, specificity 83.56%). However, the NLR's area under the curve [0.87, 95% confidence interval (CI) 0.81-0.92] was considerably higher than that of the PLR (0.73, 95% CI 0.65-0.80; P < 0.0001). CONCLUSION: NLR levels could be a valuable laboratory diagnostic for distinguishing patients with STB from those who have PSI.
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Neutrófilos , Tuberculose da Coluna Vertebral , Biomarcadores , Plaquetas , Diagnóstico Diferencial , Humanos , Linfócitos , Prognóstico , Estudos Retrospectivos , Tuberculose da Coluna Vertebral/diagnósticoRESUMO
Background: The ulcerative colitis (UC) and Crohn's disease (CD) subtypes of inflammatory bowel disease (IBD) are autoimmune diseases influenced by multiple complex factors. The clinical treatment strategies for UC and CD often differ, indicating the importance of improving their discrimination. Methods: Two methods, robust rank aggregation (RRA) analysis and merging and intersection, were applied to integrate data from multiple IBD cohorts, and the identified differentially expressed genes (DEGs) were used to establish a protein-protein interaction (PPI) network. Molecular complex detection (MCODE) was used to identify important gene sets. Two differential diagnostic models to distinguish CD and UC were established via a least absolute shrinkage and selection operator (LASSO) logistic regression, and model evaluation was performed in both the training and testing groups, including receiver operating characteristic (ROC) curves, calibration plots and decision curve analysis (DCA). The potential value of MMP-associated genes was further verified using different IBD cohorts and clinical samples. Results: Four datasets (GSE75214, GSE10616, GSE36807, and GSE9686) were included in the analysis. Both data integration methods indicated that the activation of the MMP-associated module was significantly elevated in UC. Two LASSO models based on continuous variable (Model_1) and binary variable (Model_2) MMP-associated genes were established to discriminate CD and UC. The results showed that Model_1 exhibited good discrimination in the training and testing groups. The calibration analysis and DCA showed that Model_1 exhibited good performance in the training group but failed in the testing group. Model_2 exhibited good discrimination, calibration and DCA results in the training and testing groups and exhibited greater diagnostic value. The effects of Model_1 and Model_2 were further verified in a new IBD cohort of GSE179285. The MMP genes exhibited high value as biomarkers for the discrimination of IBD patients using published cohort and immunohistochemistry (IHC) staining data. The MMP-associated gene levels were statistically significantly positively correlated with the levels of the differentially expressed cell types, indicating their potential value in differential diagnosis. The single-cell analysis confirmed that the expression of ANXA1 in UC was higher than that in CD. Conclusion: MMP-associated modules are the main differential gene sets between CD and UC. The established Model_2 overcomes batch differences and has good clinical applicability. Subsequent in-depth research investigating how MMPs are involved in the development of different IBD subtypes is necessary.
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Colite Ulcerativa , Doença de Crohn , Humanos , Doença de Crohn/diagnóstico , Doença de Crohn/genética , Metaloproteinases da Matriz , Colite Ulcerativa/diagnóstico , Colite Ulcerativa/genéticaRESUMO
There are a number of benign tumors of the nose and pharynx that are seldomly reported in literature but that can sometimes prove difficult to treat and extremely important for differential diagnosis. The present study presents cases of rare benign tumors localized in the pharynx, nasal and sinus cavities, as well as reviews of literature and historical references for each type of tumor. Unilateral nasal hemangioma in a 72-year-old male which, although not a rare pathology, raised problems due to auto-resection of the tumor. The surgeon was able to pull it out with ease without bleeding; it is possible that the mass would have eventually fallen out. Pilomatrixoma is a relatively uncommon ectodermal benign tumor of the skin derived from hair matrix cells. Surgical resection is curative but recurrence is possible (≤5% risk). The presented case is of a 26-year-old female with a pilomatrixoma of the left cheek who, for aesthetic reasons, refused a classical external surgical approach. Trans-oral resection was performed, which proved feasible but laborious and prone to recurrence. Inverted Schneiderian papilloma is a rare benign tumor of the nasal and sinus cavities with increased potential for invasion, recurrence and malignant transformation compared with other types of papilloma and other benign tumors of the area. The tumor represents 0.5-4.0% of all nasal tumors and has been described under different names, such as villiform cancer and cylindrical/transitional papilloma. The present study reports a rare case of bilateral papilloma in a 68-year-old male. He presented with bilateral evolving nasal obstruction and hyposmia. Following surgery, the patient was treated by a multidisciplinary team and followed by a respiratory rehabilitation program.
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BACKGROUND: Not thinking of a diagnosis is a leading cause of diagnostic error in the emergency department, resulting in delayed treatment, morbidity, and excess mortality. Electronic differential diagnostic support (EDS) results in small but significant reductions in diagnostic error. However, the uptake of EDS by clinicians is limited. OBJECTIVE: We sought to understand physician perceptions and barriers to the uptake of EDS within the emergency department triage process. METHODS: We conducted a qualitative study using a research associate to rapidly prototype an embedded EDS into the emergency department triage process. Physicians involved in the triage assessment of a busy emergency department were provided the output of an EDS based on the triage complaint by an embedded researcher to simulate an automated system that would draw from the electronic medical record. Physicians were interviewed immediately after their experience. Verbatim transcripts were analyzed by a team using open and axial coding, informed by direct content analysis. RESULTS: In all, 4 themes emerged from 14 interviews: (1) the quality of the EDS was inferred from the scope and prioritization of the diagnoses present in the EDS differential; (2) the trust of the EDS was linked to varied beliefs around the diagnostic process and potential for bias; (3) clinicians foresaw more benefit to EDS use for colleagues and trainees rather than themselves; and (4) clinicians felt strongly that EDS output should not be included in the patient record. CONCLUSIONS: The adoption of an EDS into an emergency department triage process will require a system that provides diagnostic suggestions appropriate for the scope and context of the emergency department triage process, transparency of system design, and affordances for clinician beliefs about the diagnostic process and addresses clinician concern around including EDS output in the patient record.
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Studies on the prevalence of autism spectrum disorders have shown gender disproportion. In recent years, there has been an increasing interest in this investigation area. There are two main research lines; the first is focused mostly on gender-related biological reasons that could account for low ASD prevalence in women (i.e., related to some protective factors related to hormones or the immune system, among others), and the second research line studies possible diagnostic biases. In the present study, a review of the latter line of research is made based on two main objectives: (a) analysis of possible biases in diagnostic tools and (b) other nonbiological ASD prevalence explained by gender differences. As a result of our theoretical review, we found that the articles reviewed showed contradictory results and possible diagnostic biases, not only in their design but also in their assessment standards. We concluded that specific or complementary diagnostic tools and procedures differentiated by gender should be developed in order to reduce these biases.