Diagnostics最新文献

Background: Diabetic foot ulcers (DFUs) represent severe complications in diabetic patients, often leading to chronic infections and potentially resulting in nontraumatic lower-limb amputations. The increasing incidence of multidrug-resistant (MDR) bacteria in DFUs complicates treatment strategies and worsens patient prognosis. Among these pathogens, carbapenemase-producing pathogens have emerged as particularly concerning owing to their resistance to β-lactam antibiotics, including carbapenems. Methods: This study evaluated the prevalence of MDR bacteria, specifically carbapenemase-producing pathogens, in DFU infections. A total of 200 clinical isolates from DFU patients were analyzed via phenotypic assays, including the modified Hodge test (MHT) and the Carba NP test, alongside molecular techniques to detect carbapenemase-encoding genes (blaKPC, blaNDM, blaVIM, blaIMP, and blaOXA-48). Results: Among the isolates, 51.7% were confirmed to be carbapenemase producers. The key identified pathogens included Klebsiella pneumoniae, Pseudomonas aeruginosa, Acinetobacter baumannii, and Escherichia coli. The most commonly detected carbapenemase genes were blaKPC (27.6%) and blaNDM (24.1%). Carbapenemase-producing isolates presented high resistance to β-lactam antibiotics, whereas non-carbapenemase-producing isolates presented resistance through mechanisms such as porin loss and efflux pumps. Conclusions: The findings of this study highlight the significant burden of MDR infections, particularly carbapenemase-producing organisms, in DFUs. MDR infections were strongly associated with critical clinical parameters, including pyrexia (p = 0.017), recent antibiotic use (p = 0.003), and the severity of infections. Notably, the need for minor amputations was much higher in MDR cases (p < 0.001), as was the need for major amputations (p < 0.001). MDR infections were also strongly associated with polymicrobial infections (p < 0.001). Furthermore, Wagner ulcer grade ≥II was more common in MDR cases (p = 0.002). These results emphasize the urgent need for enhanced microbiological surveillance and the development of tailored antimicrobial strategies to combat MDR pathogens effectively. Given the high prevalence of carbapenem resistance, there is an immediate need to explore novel therapeutic options to improve clinical outcomes for diabetic patients with DFUs.

EBUS-TBNA is the most common interventional pulmonology procedure performed globally and remains the cornerstone of the diagnosis and staging not only of lung cancer but also for other neoplastic, inflammatory, and infective pathologies of the mediastinum. Infective complications of EBUS-TBNA are underreported in the literature, but the constantly rising incidence of lung cancer is leading to an increasing number of EBUS-TBNA procedures and, therefore, to a significant number of infective complications, even 4 weeks following the procedure. In this review we attempt to summarize the risk factors related to these infective complications, along with useful biomarkers that can be used to identify patients that might develop infective complications, to facilitate the prediction or even prompt treatment of these.

Background/Objectives: Candida auris is an emerging multidrug-resistant pathogen with the potential to cause invasive fungal infections and healthcare-associated outbreaks. Currently, there is no systematic review explicitly focusing on the up-to-date molecular diagnostics of this pathogen to cover the entire process, including sample pre-extraction procedures, nucleic acid extraction, and DNA-based detection. Sample pre-treatment and extraction are the prerequisites before molecular testing and have implications on the downstream detection but have not been reviewed elsewhere. This review aims to summarize a comprehensive update in the past 5 years. Methods: A systematic review was conducted to search for articles published in the period between 1 January 2020 and 20 November 2024 from various databases, including PubMed, Google Scholar, and Web of Science. The findings were produced through narrative synthesis, with quantitative analysis conducted where applicable. Results: Starting from 1115 records, 28 studies that met the inclusion criteria were included in the analysis. This review summarized the key updates on three categories, including (i) sample pre-extraction procedures and nucleic acid extraction, including magnetic, bead-beating, mechanical, chemical, thermal, and column-based protocols; (ii) commercial molecular assays; and (iii) laboratory-developed tests (LDTs). For real-time PCR, commercial molecular assays and LDTs showed sensitivity (ranging from 94.9% to 100% and 44% to 100%, respectively) and specificity (ranging from 98.2% to 100% and 92% to 100%, respectively). Conclusions: Here, we describe a useful summary to enlighten readers from clinical microbiology laboratories on the nucleic acid extraction protocols and performance of various molecular diagnostic assays used for the detection of C. auris.

Background and Clinical Significance: Granulomatosis with polyangiitis (GPA) represents a rare autoimmune disease with granulomatous inflammation, tissue necrosis, and systemic vasculitis of the small and medium blood vessels. Although the clinical elements vary, aortic involvement is exceptional and it represents a challenge that requires a rapid intervention with the potential of displaying a fulminant evolution. Case Presentation: We report a 64-year-old male with an 18-year history of GPA who presented atypical low back pain. Following ultrasound and computed tomography exams, the initial suspicion was an intramural descending aorta hematoma, surrounded by a peri-aortic sleeve suggesting a chronic inflammation. Serial non-invasive assessments revealed a progressive lesion within the next 10 to 12 days to an aortic wall rupture, despite the absence of previous aneurysmal changes. The peri-aortic fibrous inflammatory sleeve was life-saving, and emergency minimally invasive surgery was successful, including the massive improvement in back pain. Conclusions: To our knowledge, this is a very rare scenario in GPA; we found only 18 other cases (the oldest report being from 1994). An interventional approach was mentioned in a few cases as seen in this instance. Glucocorticoid medication for GPA might act as a potential contributor to symptomatic osteoporotic fractures which require a prompt differential diagnosis. Unusual aortic manifestations (such as intramural aortic hematoma or aortic wall rupture) are difficult to recognize since the index of clinical suspicion is rather low. A prompt intervention may be life-saving and a multidisciplinary team is mandatory. Minimally invasive surgical correction of the aortic event represents an optimum management in the modern era. Such cases add to the limited data we have so far with respect to unusual outcomes in long-standing GPAs.

Background/Objectives: The role of artificial intelligence (AI) in radiological image analysis is rapidly evolving. This study evaluates the diagnostic performance of Chat Generative Pre-trained Transformer Omni (GPT-4 Omni) in detecting intracranial hemorrhages (ICHs) in non-contrast computed tomography (NCCT) images, along with its ability to classify hemorrhage type, stage, anatomical location, and associated findings. Methods: A retrospective study was conducted using 240 cases, comprising 120 ICH cases and 120 controls with normal findings. Five consecutive NCCT slices per case were selected by radiologists and analyzed by ChatGPT-4o using a standardized prompt with nine questions. Diagnostic accuracy, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated by comparing the model's results with radiologists' assessments (the gold standard). After a two-week interval, the same dataset was re-evaluated to assess intra-observer reliability and consistency. Results: ChatGPT-4o achieved 100% accuracy in identifying imaging modality type. For ICH detection, the model demonstrated a diagnostic accuracy of 68.3%, sensitivity of 79.2%, specificity of 57.5%, PPV of 65.1%, and NPV of 73.4%. It correctly classified 34.0% of hemorrhage types and 7.3% of localizations. All ICH-positive cases were identified as acute phase (100%). In the second evaluation, diagnostic accuracy improved to 73.3%, with a sensitivity of 86.7% and a specificity of 60%. The Cohen's Kappa coefficient for intra-observer agreement in ICH detection indicated moderate agreement (κ = 0.469). Conclusions: ChatGPT-4o shows promise in identifying imaging modalities and ICH presence but demonstrates limitations in localization and hemorrhage type classification. These findings highlight its potential for improvement through targeted training for medical applications.

Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disorder characterized by the accumulation of globotriaosylceramide, leading to multi-organ involvement and significant morbidity. Cardiovascular manifestations, particularly arrhythmias, are common and pose a considerable risk to affected individuals. This overview examines current approaches to arrhythmic risk stratification in AFD, focusing on the identification, assessment, and management of cardiac arrhythmias associated with the disease. We explore advancements in diagnostic techniques, including echocardiography, cardiac MRI, and ambulatory ECG monitoring, to enhance the detection of arrhythmogenic substrate. Furthermore, we discuss the role of genetic and biochemical markers in predicting arrhythmic risk and the implications for personalized treatment strategies. Current therapeutic interventions, including enzyme replacement therapy and antiarrhythmic medications, are reviewed in the context of their efficacy and limitations. Finally, we highlight ongoing research and future directions with the aim of improving arrhythmic risk assessment and management in AFD. This overview underscores the need for a multidisciplinary approach to optimize care and outcomes for patients with AFD.

Background/Objectives: Physical shoulder offset parameters (SOPs) play important roles in the diagnosis and treatment of shoulder diseases. However, there is little research analyzing SOPs in healthy shoulders using cross-sectional MRI images, especially in Asians. Therefore, this study aimed to establish physiological reference values of shoulder parameters for Asian populations. Methods: This was a retrospective imaging study using MRI images of the shoulder joints of 500 patients (mean age: 55.9 ± 14.0 years). We measured the following SOPs of the normal joint: HO, GO, lateral glenoidal humeral offset (LGHO), humeral shaft axis offset (HAO), and cortical offset (CO). In addition, the offset parameters were examined for associations with age, gender, side, and osteoarthritis. Results: The mean HO was 22.9 (±2.4) mm, the mean GO was 62.3 (±6.6) mm, the mean LGHO was 48.9 (±4.2) mm, the mean HAO was 25.2 (±2.8) mm, and the mean CO was 15.7 (±2.7) mm. Male patients exhibited significantly higher values across all SOPs compared to female patients. In addition, there was a significantly lower mean value for HAO in left shoulders (HAO: 24.7± 2.8 mm vs. 25.5 ± 2.8 mm, p = 0.011). There was a negatively significant correlation between age and all SOPs. No significant difference in mean values was noted between shoulders with osteoarthritis and non-osteoarthritis in any SOPs. Conclusions: Significant gender- and age-specific differences were noted for all measured SOPs. In addition, right shoulders did not show higher mean SOP values than left shoulders, except for HAO, suggesting that the contralateral joint is a reliable reference for surgical planning. These findings should be considered in shoulder surgery planning.

Hypertrophic cardiomyopathy (HCM) is a heterogeneous cardiac disease and one of its major challenges is the limited accuracy in stratifying the risk of sudden cardiac death (SCD). Positron emission tomography (PET), through the evaluation of myocardial blood flow (MBF) and metabolism using fluorodeoxyglucose (FDG) uptake, can reveal microvascular dysfunction, ischemia, and increased metabolic demands in the hypertrophied myocardium. These abnormalities are linked to several factors influencing disease progression, including arrhythmia development, ventricular dilation, and myocardial fibrosis. Fibroblast activation can also be evaluated using PET imaging, providing further insights into early-stage myocardial fibrosis. Conflicting findings underscore the need for further research into PET's role in risk stratification for HCM. If PET can establish a connection between parameters such as abnormal MBF or increased FDG uptake and SCD risk, it could enhance predictive accuracy. Additionally, PET holds significant potential for monitoring therapeutic outcomes. The aim of this review is to provide a comprehensive overview of the most significant data on disease progression, risk stratification, and prognosis in patients with HCM using cardiac PET-CT imaging.

Background: Oncological surgery during the COVID-19 pandemic was performed only in carefully selected cases, due to variation in the allocation of resources. The purpose of this study was to highlight the impact of the pandemic lockdown on the presentation, diagnosis, and surgical management of colorectal cancers as well as the post-pandemic changes in this area. Material and methods: This single center, retrospective comparative study contained 1687 patients, divided into three groups with equal time frames of two years, consisting of a pre-pandemic, pandemic, and post-pandemic period, in which preoperative and perioperative as well as postoperative parameters were compared. Results: Statistically significant differences regarding environment, type of admission, and ASA score, as well as a more advanced tumoral stage, increased number of important postoperative complications, and a lower minimally invasive surgical approach, were highlighted within the pandemic group. Statistically significant differences regarding emergency diagnosis as well as late diagnosis were highlighted. There were no significant differences regarding the tumor location, postoperative 30-day mortality, or hospitalization duration. Conclusions: COVID-19 significantly impacted the surgical timing in colorectal cancer, as well as addressability for the rural population, with a marked decrease in elective cases as well as an increased number of cases diagnosed in an emergency setting, with locally advanced tumors. However, no significant changes in postoperative mortality or hospitalization duration were highlighted. In addition, most of the changes highlighted were reverted in the post-pandemic period. Further studies are required to observe the long-term effects in terms of morbidity and mortality, regarding the delay of diagnosis and oncological treatment.

Background/Objectives: Clavicle injuries are common and seem to be frequently subject to diagnostic misclassification. The accurate identification of clavicle fractures is essential, particularly for registry and Big Data analyses. This study aims to assess the frequency of diagnostic errors in clavicle injury classifications. Methods: This retrospective study analyzed patient data from two Level 1 trauma centers, covering the period from 2008 to 2019. Included were cases with ICD-coded diagnoses of medial, midshaft, and lateral clavicle fractures, as well as sternoclavicular and acromioclavicular joint dislocations. Radiological images were re-evaluated, and discharge summaries, radiological reports, and billing codes were examined for diagnostic accuracy. Results: A total of 1503 patients were included, accounting for 1855 initial injury diagnoses. In contrast, 1846 were detected upon review. Initially, 14.4% of cases were coded as medial clavicle fractures, whereas only 5.2% were confirmed. The misclassification rate was 82.8% for initial medial fractures (p < 0.001), 42.5% for midshaft fractures (p < 0.001), and 34.2% for lateral fractures (p < 0.001). Billing codes and discharge summaries were the most error-prone categories, with error rates of 64% and 36% of all misclassified cases, respectively. Over three-quarters of the cases with discharge summary errors also exhibited errors in other categories, while billing errors co-occurred with other category errors in just over half of the cases (p < 0.001). The likelihood of radiological diagnostic error increased with the number of imaging modalities used, from 19.7% with a single modality to 30.5% with two and 40.7% with three. Conclusions: Our findings indicate that diagnostic misclassification of clavicle fractures is common, particularly between medial and midshaft fractures, often resulting from errors in multiple categories. Further prospective studies are needed, as accurate classification is foundational for the reliable application of Big Data and AI-based analyses in clinical research.