Search Results (40)

Background: Medical thoracoscopy (MT) represents the gold standard for undiagnosed pleural effusions, traditionally performed in the presence of pleural fluid. Recent technical advances have enabled MT in “dry space” conditions (minimal or absent pleural effusion), raising questions about comparative diagnostic efficacy and safety profiles. Objective: This literature review aims to evaluate diagnostic yield and complication rates between traditional MT performed in patients with current pleural effusion and dry medical thoracoscopy (DMT). Results: MT demonstrates diagnostic sensitivity ranging from 80% to 96.3% and specificity close to 100% for malignant pleural disease, and the diagnostic accuracy is 99.1% for tuberculous pleuritis. DMT’s recent studies report optimal success rates in pleural access and tissue sampling, and diagnostic sensitivity for malignancy up to 100%, although a confirmation with larger cohorts for technique comparison is needed. Major complication rates are comparable between MT and DMT, with no significant differences in overall adverse events. Mortality rates remain exceptionally low (≤0.1%) for both approaches. Conclusions: MT remains a highly effective diagnostic tool for pleural diseases. DMT represents a valid and safe alternative in patients without significant pleural effusion, although technically more demanding, and further studies are required to validate the technique. Full article

Nocardia spp. and Mycobacterium spp. are known etiological agents of granulomatous pulmonary infections in humans and animals; however, co-infections involving these pathogens have not previously been reported in veterinary medicine. This paper describes the first documented case of co-infection with Mycobacterium bovis and Nocardia spp. in a captive roan antelope (Hippotragus equinus). The animal was a 9-year-old female roan antelope from a safari park in northern Italy that died suddenly with a one-month history of weight loss. Post-mortem examination revealed severe, diffuse, chronic granulomatous pneumonia associated with fibrino-granulomatous pleuritis and granulomatous pericarditis. Histologically, multifocal to coalescing necrotizing granulomas were observed, with intralesional acid-fast bacteria. Microbiological culture and biomolecular analyses allowed the identification of M. bovis and Nocardia spp. in lung tissue samples. The Nocardia genome sequence was 98.5% similar to N. tengchongensis, a recently discovered species. The findings emphasize the importance of comprehensive diagnostic approaches in animal granulomatous lung disease. Mixed infections in captive wildlife represent a One Health concern, as the potential for zoonotic adaptation and transmission to humans cannot be excluded. Therefore, pathogen surveillance is of particular importance within zoological collections. Full article

Familial Mediterranean Fever (FMF) is among the most frequent autoinflammatory diseases in populations originating from the area of Middle Eastern and Mediterranean countries. It is caused by mutations in the MEFV gene, which causes dysregulated pyrin expression and thus an immunologic anomaly. FMF is diagnosed by recurrent episodes of fever and serosal inflammation, predominantly peritonitis and pleuritis, as well as other systemic symptoms. Recent research is dedicated to searching for factors beyond genetic code contributing to how FMF evolves, the severity of its symptoms and response to conventional therapy—colchicine. These factors include epigenetic modifications of the MEFV gene and other environmental factors, such as cold exposure, stress, composition of gut flora and diet. Among these factors, vitamin D, best known for its classical role in musculoskeletal health, has emerged as a powerful immune modulator. It has been documented that vitamin D has been implicated in the regulation of pro-inflammatory cytokines and may modulate immune responses. Notably, in regions with some of the highest reported prevalences of MEFV mutations—likely reflecting Mediterranean populations more broadly—vitamin D concentrations are frequently low. This overlap raises the hypothesis that vitamin D deficiency may be associated with FMF pathogenesis, although current data are largely correlational and do not establish causality. In this review, we summarize current evidence on FMF pathogenesis, potential triggers, and vitamin D metabolism, and explore how vitamin D may modulate immune responses and intersect with key autoinflammatory pathways, considering whether adequate vitamin D supplementation could help reduce disease burden in some patients with FMF. Full article

Polyserositis is an important clinical feature of Glaesserella parasuis (G. parasuis, GPS) infection in pigs, typically presenting as peritonitis, pleuritis, pericarditis, meningitis, and arthritis, resulting in heavy economic losses in the swine industry. However, the current research on the pathogenesis of infectious peritonitis, particularly that caused by GPS, remains limited, and this condition has long been poorly reported in both clinical practice and research. In this study, we investigated the overall changes in gene expression in porcine peritoneal mesothelial primary cells (PPMCs) following a GPS infection using transcriptomics analysis. A total of 779 differentially expressed genes (DEGs) were identified after 12 h of infecting the PPMCs with GPS, resulting in 253 and 526 genes being upregulated and downregulated, respectively. Additionally, 220 DEGs, mainly involved in the NOD-like receptor signaling pathway, the TNF signaling pathway, and the metabolic pathway, were enriched in the KEGG analysis. These pathways were associated with the main DEGs (IL-1β, IL6, CCL5, CCL2 and NFKBIA), and their gene expression levels were verified through quantitative real-time fluorescence PCR (qRT-PCR). Moreover, oxidative phosphorylation, Salmonella infection, rheumatoid arthritis, and other regulating pathways were clustered together. Our results provide insights into the molecular mechanism underlying GPS-induced peritonitis in swine, identify novel therapeutic targets, and provide research direction for the control and prevention of GPS infections. These insights provide a foundational basis for advancing intervention and prevention approaches for this overlooked yet clinically significant manifestation of polyserositis. Full article

Background: The heritage of occupational and environmental asbestos exposure in Piedmont, Italy, has resulted in an enduring diffuse pleural mesothelioma (DPM) epidemic. Our study aimed to investigate the accuracy of Pleural biopsy (PB) via thoracoscopy (or video-assisted thoracic surgery—VATS) and analyze the diagnostic path of patients who experienced an initial DPM misdiagnosis. Methods: Patients who underwent PB by VATS for suspected DPM from 2004 to 2013 were analyzed. The Registry of Malignant Mesothelioma (RMM) records were examined to cross-check incident cases and identify misdiagnosed DPM. The sensitivity and specificity of the initial PB assessment versus the final classification of cases by RMM were evaluated. Results: Data from 552 patients were analyzed, and DPM was diagnosed in 178 cases (32%). Sensitivity and specificity were 93% and 100%, respectively. The number of false-negative PBs was 14 (2%). Of those, 10 (71%) had an initial diagnosis of chronic pleuritis, 3 (28.5%) were initially classified as mesothelial proliferation, and 1 had reactive mesothelial proliferation. All of them reported a history of asbestos exposure, and the correct diagnosis was reached after a median of 160 days. One- and four-year survival rates were 52% and 10% in DPM PB-positive cases and 50% and 19% in false-negative cases. Conclusions: When a strong clinical suspicion after a negative PB remains, iterative biopsy attempts should be considered, especially if a history of asbestos exposure is reported. In high-volume centers, the DPM misdiagnosis rate remains low, and future advancements in diagnostic technologies could further increase the accuracy and efficacy of histologic diagnosis. Full article

The expanded newborn screening (NBS) program in the Russian Federation, launched in 2023, includes the detection of severe forms of T- and B-cell immunodeficiencies via TREC/KREC quantification. We report a rare case of a male infant having multiple congenital anomalies and lymphopenia identified through this program. Genetic testing revealed a 25.8 Mb terminal deletion spanning 13q31.2–qter, consistent with 13q deletion syndrome. Initial NBS revealed reduced TREC levels, prompting further evaluation. The patient exhibited a complex phenotype, including central nervous system malformation (alobar holoprosencephaly), severe congenital heart disease, renal hypoplasia, limb and genitourinary anomalies, and facial dysmorphism. Postnatal complications included pneumonia, pleuritis, and chylothorax. Flow cytometry demonstrated mild T- and B-cell lymphopenia. The genomic defect was characterized using long-read third-generation sequencing, enabling precise breakpoint identification and accurate mapping of deleted genes. The deletion was confirmed via subtelomeric FISH analysis. The patient died at 7 months of age due to the progression of underlying congenital anomalies and associated complications. Our findings broaden the clinical characterization of distal 13q deletion syndrome and demonstrate the value of long-read sequencing in structural chromosomal analysis. They further highlight the difficulties of caring for neonates having complex malformations and immune dysfunction. Given the potential for both primary and secondary immune disturbances, comprehensive immunological evaluation should be considered in patients having 13q deletion syndrome to improve diagnostic accuracy and inform appropriate clinical management. Full article

Background/Objectives: Up to one third of pleural biopsies performed during medical thoracoscopy (MT) are labelled as non-specific pleuritis (NSP). The histological diagnosis of NSP has long been worrisome for pulmonologists, with the potential to evolve into a life-threatening condition. The aim of this study was to identify clinical and biological predictors for patients with a diagnosis of NSP to guide clinical decisions. Methods: Baseline, procedural and follow-up data of NSP patients were retrospectively analysed to identify potential outcome predictors. Results: Of the 272 patients who underwent MT, 192 (71%) were diagnosed with malignancies, 9 (3%) with benign diseases and 71 (26%) with NSP. At follow-up, 17% were diagnosed with malignant disease and 21% with a benign condition and 62% remained idiopathic. A thoracoscopist’s evaluation of the pleural appearance reported a PPV of 28% and an NPV of 91% to predict malignancy. Patients with a subsequent diagnosis of malignancy tended to have a higher volume of fluid drained than those with persistently idiopathic NSP [2.7 litres (L) vs. 1.6 L p = 0.06]. A lymphocytic pleural effusion was more common in the malignant and idiopathic groups (63% and 60%, respectively) than the benign group (16%; p = 0.06 and p = 0.01). The three groups had a similar rate of effusion recurrence. Overall survival was higher in patients with idiopathic pleural effusion than in those with malignant (p = 0.04) or benign disease (p = 0.008). Conclusions: NSP diagnosis hides a malignancy in one in five cases, underlying the importance of closely following up these patients. The volume of drained pleural fluid, cell count and thoracoscopist’s impression may guide clinicians in the challenging management of patients with NSP. Full article

Extrapulmonary tuberculosis (EPTB) remains diagnostically challenging due to its paucibacillary nature and variable presentation. Xpert and culture are limited in EPTB diagnosis due to sampling challenges, low sensitivity, and long turnaround times. This study evaluated the performance of the MPT64 antigen detection test for diagnosing EPTB, particularly tuberculous lymphadenitis (TBLN) and tuberculous pleuritis (TBP), in a high-TB, low-HIV setting. Conducted at Gulab-Devi Hospital, Lahore, Pakistan, this study evaluated the MPT64 test’s performance against conventional diagnostic methods, including culture, histopathology, and the Xpert MTB/RIF assay. Lymph node biopsies were collected, and cell blocks were made from aspirated pleural fluid from patients clinically presumed to have EPTB. Of 338 patients, 318 (94%) were diagnosed with EPTB. For TBLN, MPT64 demonstrated higher sensitivity (84%) than Xpert (48%); for TBP, the sensitivity was 51% versus 7%, respectively. Among histopathology-confirmed TBLN cases, MPT64 outperformed both culture and Xpert (85% vs. 58% and 47%). Due to the low number of non-TB cases, specificity could not be reliably assessed. The MPT64 test shows promise as a rapid, sensitive diagnostic tool for EPTB, particularly TBLN, in routine settings. While sensitivity is notably superior to Xpert, further studies are needed to evaluate its specificity and broader diagnostic utility. Full article

Systemic lupus erythematosus (SLE) is a pleiotropic disease that can present in numerous forms, ranging from mild mucocutaneous symptoms to severe manifestations affecting multiple organs. SLE has the potential to impact any segment of the respiratory system, exhibiting a range of severity levels throughout the different stages of the disease. Pulmonary manifestations in SLE patients can be classified as primary (i.e., directly related to SLE and to immune-mediated damage), secondary to other SLE manifestations (e.g., nephrotic syndrome, renal failure, congestive heart failure), and comorbidities (e.g., infections, cancers, overlapping primary respiratory diseases). Understanding and correctly managing lung involvement in SLE is crucial because pulmonary complications are common and can significantly impact morbidity and mortality in affected patients. Early recognition and appropriate treatment can prevent irreversible lung damage, improve quality of life, and reduce the risk of life-threatening complications. Treatment algorithms are based on the suppression of inflammation, with or without the need for dedicated, supportive care. According to disease severity, available treatments include nonsteroidal anti-inflammatory drugs, corticosteroids, immunosuppressants, and biological agents. In this review, we aim to summarize the current knowledge on lung involvement in SLE and then focus on the management and treatment approaches available for the different forms. Full article

Systemic lupus erythematosus (SLE) is a complex autoimmune disease that poses serious long-term patient burdens. (1) Background: SLE patient classification and care are often complicated by case heterogeneity (diverse variations in symptoms and severity). Large language models (LLMs) and generative artificial intelligence (genAI) may mitigate this challenge by profiling medical records to assess key medical criteria. (2) Methods: To demonstrate genAI-based profiling, ACR (American College of Rheumatology) 1997 SLE classification criteria were used to define medically relevant LLM prompts. Records from 78 previously studied patients (45 classified as having SLE; 33 indeterminate or negative) were computationally profiled, via five genAI replicate runs. (3) Results: GenAI determinations of the “Discoid Rash” and “Pleuritis or Pericarditis” classification criteria yielded perfect concurrence with clinical classification, while some factors such as “Immunologic Disorder” (56% accuracy) were statistically unreliable. Compared to clinical classification, our genAI approach achieved a 72% predictive success rate. (4) Conclusions: GenAI classifications may prove sufficiently predictive to aid medical professionals in evaluating SLE patients and structuring care strategies. For individual criteria, accuracy seems to correlate inversely with complexities in clinical determination, implying that improvements in AI patient profiling tools may emerge from continued advances in clinical classification efficacy. Full article

Pleural thickening can be the result of inflammation or infection but can also have a neoplastic origin. Depending on the clinical context, a pleural lesion or mass is often initially suspected of malignancy. Benign pleural tumors are rare, and their appearance on ultrasound (US) is also described less frequently than pleural metastases or malignancies. There are few descriptions of contrast-enhanced Ultrasound (CEUS) in particular. This review introduces the basics of transthoracic ultrasound (TUS) of the pleura and CEUS of the pleura and lung. CEUS is recommended for pulmonary applications in the EFSUMB guidelines in non-hepatic applications. This article provides an overview of the characteristics of benign pleural thickening, tumor-like lesions, and benign pleural tumors on transthoracic B-mode US with color Doppler imaging (CDI) and CEUS. In detail, characteristics in TUS and CEUS are described for infectious/inflammatory pleural thickening (empyema, tuberculous pleuritis, hemothorax, fibrothorax), pleural thickening in various systemic diseases, in tumor-like conditions (plaques, splenosis, endometriosis, mesothelial cysts, lymphangiomatosis) and benign tumors (lipoma, benign SFT, schwannoma, solitary extramedullary/extraosseous plasmacytoma). The descriptions are illustrated by corresponding US and CEUS images. Full article

Objective: To investigate the prevalence and clinical spectrum of atypical or non-classical complications in adult-onset Still’s disease (AOSD) beyond macrophage activation syndrome (MAS) and to identify factors linked to their occurrence. Methods: Multicenter cross-sectional study of AODS cases included in the Spanish registry on Still’s disease. Results: This study included 107 patients (67% women), of whom 64 (59.8%) developed non-classical complications. These include macrophage activation syndrome in 9.5%, atypical skin manifestations in 38.8%, cardiac involvement in 22.7% (comprising pericarditis, myocarditis, pulmonary arterial hypertension, and noninfectious endocarditis), pleuritis in 28.9%, transient pulmonary infiltrates in 4%, significant headache in 14.1%, lower abdominal pain with evidence of peritonitis in 8.4%, and secondary amyloidosis in 0.9%. In the multivariate logistic regression analysis, lymphadenopathy (OR 2.85, 95% CI 1.03–7.91, p = 0.044) and the systemic score system (SSC) index (OR 1.86, 95% CI 1.29–2.69, p = 0.001) were independently associated with the development of non-classical clinical manifestations. In contrast, typical exanthema was associated with a reduced risk of these complications (OR 0.32, 95% CI 0.11–0.95, p = 0.041). Conclusions: In addition to the typical clinical manifestations and MAS, a significant proportion of patients with AOSD develop uncommon complications, some of which can be potentially life-threatening. These should be considered in the evaluation and follow-up of patients. Early recognition and prompt management are crucial to significantly reduce morbidity and mortality. Full article

Background: Pulmonary involvement in systemic juvenile idiopathic arthritis (SJIA) is a rare but dangerous complication. The main risk factors are already known, such as macrophage activation syndrome, a refractory course of systemic juvenile arthritis, infusion reaction to interleukin 1 and/or interleukin 6 blockers, trisomy 21, and eosinophilia. However, information about respiratory system involvement (RSI) at the onset of SJIA is scarce. Our study aimed to evaluate the specific features of children with SJIA with RSI and their outcomes. Methods: In a single-center retrospective cohort study, we compared the information from the medical records of 200 children with SJIA according to ILAR criteria or SJIA-like disease (probable/possible SJIA) with and without signs of RSI (dyspnea, shortness of breath, pleurisy, acute respiratory distress syndrome, and interstitial lung disease (ILD)) at the disease onset and evaluated their outcomes (remission, development of chronic ILD, clubbing, and pulmonary arterial hypertension). Results: A quarter (25%) of the SJIA patients had signs of the RSI at onset and they more often had rash; hepato- and splenomegaly; heart (pericarditis, myocarditis), central nervous system, and kidney involvement; hemorrhagic syndrome; macrophage activation syndrome (MAS, 44.4% vs. 9.0%, p = 0.0000001); and, rarely, arthritis with fewer active joints, compared to patients without RSI. Five patients (10% from the group having RSI at the onset of SJIA and 2.5% from the whole SJIA cohort) developed fibrosing ILD. All of them had a severe relapsed/chronic course of MAS; 80% of them had a tocilizumab infusion reaction and further switched to canakinumab. Unfortunately, one patient with Down’s syndrome had gone. Conclusion: Patients with any signs of RSI at the onset of the SJIA are required to be closely monitored due to the high risk of the following fibrosing ILD development. They required prompt control of MAS, monitoring eosinophilia, and routine checks of night oxygen saturation for the prevention/early detection of chronic ILD. Full article

Respiratory diseases significantly affect intensive pig finishing farms, causing production losses and increased antimicrobial use (AMU). Lesion scoring at slaughter has been recognized as a beneficial practice to evaluate herd management. The integrated analysis of abattoir lesion scores and AMU data could improve decision-making by providing feedback to veterinarians and farmers on the effectiveness of antimicrobial treatments, thus rationalizing their use. This study compared lung and pleural lesion scores collected at Italian pig slaughterhouses with on-farm AMU, estimated through a treatment index per 100 days (TI100). Overall, 24,752 pig carcasses, belonging to 236 batches from 113 finishing farms, were inspected. Bronchopneumonia and chronic pleuritis were detected in 55% and 48% of the examined pigs, respectively. Antimicrobials were administered in 97% of the farms during the six months prior to slaughter (median TI100 = 5.2), notwithstanding compliance with the mandatory withdrawal period. EMA category B (critical) antimicrobials were administered in 15.2% of cases (median TI100 = 0.06). The lung score was not associated with the total AMU, but significant, positive associations were found with the past use of critical antimicrobials (p = 0.041) and macrolides (p = 0.044). This result highlights the potential of abattoir lung lesion monitoring to rationalize antimicrobial stewardship efforts, contributing to AMU reduction. Full article

We describe the case of a 43-year-old female with hereditary hemochromatosis, previously without cardiac issues, who presented with a severe fever (>40 to 41 °C) to our hospital. Initial assessments, including transthoracic echocardiography, showed no typical signs of infective endocarditis. A contrast-enhanced CT scan revealed a hypodense area in the right subscapular muscle, alongside pleural thicknesses. Due to the critical condition, a central venous catheter (CVC) was implanted for immediate intravenous treatment. Subsequent blood cultures, positive for Staphylococcus aureus, and transesophageal echocardiography led to a diagnosis of multivalvular infective endocarditis (MIE). Subsequently, the patient underwent positron emission tomography/computed tomography (PET/CT) with [¹⁸F]Fluorodeoxyglucose ([¹⁸F]FDG), which detected increased tracer incorporation in the muscle lesion, CVC, and pleural thicknesses. The final diagnosis was CVC infection and septic embolism to the subscapular muscle in a patient with pleuritis. This case showcases the critical role of [¹⁸F]FDG PET/CT as whole-body imaging modality in diagnosing and managing complex infective cases. Full article