Search Results (35)

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

A large number of monkeypox (MPOX) cases have been reported in Europe and North America in 2022, and a new outbreak of this disease was declared. We describe a case of a patient with probable monkeypox during the height of this epidemic in Poland. The patient’s symptoms resolved within two weeks, but over the next two months, he developed community-acquired pneumonia requiring hospitalization and, subsequently, non-specific pleuritis. The simultaneous occurrence of such severe infections in a previously healthy young man is not typical and suggests a potential underlying cause. We believe the potential association of these diseases with probable monkeypox virus infection is very likely. Cases of monkeypox pneumonia, both viral and secondary bacterial, have already been reported in the literature. Cases of viral pleuritis in the course of MPOX in animals have also been described; however, to our knowledge, no similar cases have been described in humans to date. Our case indicates that it is important to monitor patients after MPOX in order to respond promptly to potentially life-threatening but, as of yet, not fully understood complications. Full article

Background: Rheumatoid arthritis (RA) is a chronic auto-immune disease, typically affecting the joints, which can also present with lung involvement (pleuritis, interstitial lung disease, pulmonary nodules, etc.). Lung ultrasound (LUS) is an upcoming tool in the detection of these pulmonary manifestations. Methods: We performed a 72-window LUS in 75 patients presenting to the outpatient rheumatology clinic and describe the abnormalities (presence of B-lines (vertical comet-tail artefacts), pleural abnormalities, pleural effusions, and subpleural nodules) on lung ultrasound. We created a topological mapping of the number of B-lines per intercostal zone. Results: We observed pleural effusions, pleural abnormalities, and pleural nodules in, respectively, 1.3%, 45.3%, and 14% of patients. There were 35 (46.7%) patients who had less than 5 B-lines, 15 (20%) patients who had between 5 and 10 B-lines, 11 (14.6%) between 10 and 20, 10 (13.3%) between 20 and 50, 1 (1.3%) between 50 and 100, and 3 (4%) of patients who had more than 100 B-lines. Conclusions: LUS in patients with RA shows an array of abnormalities ranging from interstitial syndromes to pleural abnormalities, subpleural nodules, and pleural effusions. Hotspots for the presence of B-lines are situated bilaterally in the posterior subscapular regions, as well as the anterior right mid-clavicular region. Full article

Background: Local anaesthetic thoracoscopy (LAT) can be a vital procedure for diagnosis of unexplained pleural effusions. Traditionally, poudrage for pleurodesis and insertion of a large bore drain necessitated admission. There has been a shift towards performing LAT as a day case procedure with indwelling pleural catheter (IPC) insertion. This was advocated during the COVID pandemic by the British Thoracic Society (BTS). To determine the feasibility of such pathways, continuous evaluations are required. Methods: All day case LAT procedures with IPC insertion, performed in theatre, were identified at two large district general hospitals (Northumbria HealthCare in the North East of England and Victoria Hospital, NHS Fife, in Scotland). Rapid pleurodesis with talc was not performed due to local staffing problems. All patients had their LAT in theatre under conscious sedation with a rigid scope. Demographics, clinical, radiological and histopathological characteristics and outcomes were collected. Results: 79 patients underwent day case LAT. The lung did not deflate, meaning biopsies were not enabled, in four of the patients. The mean age was 72 years (standard deviation 13). Fifty-five patients were male and twenty-four were female. The main diagnoses were lung cancers, mesotheliomas and fibrinous pleuritis with an overall diagnostic sensitivity of 93%. Other diagnoses were breast, tonsillar, unknown primary cancers and lymphomas. Seventy-three IPCs were simultaneously placed and, due to normal macroscopic appearances in two patients, two large bore drains were placed and removed within one hour of LAT termination. Sixty-six (88%) patients were discharged on the same day. Seven patients required admission: one for treatment of surgical emphysema, four because they lived alone, one for pain control and one for control of a cardiac arrythmia. Within 30 days, there were five IPC site infections with two resultant empyemas (9%), with no associated mortality. Two patients developed pneumonia requiring admission and one patient required admission for pain management. The median number of days for which the IPCs remained in situ was 78.5 days (IQR 95). The median length of stay (LoS) was 0 days (IQR 0). No patients required further interventions for pleural fluid management. Conclusions: Day case LAT with IPC insertion is feasible with this current set up, with a median stay of 0 days, and should be widely adopted. The health economics of preventing admission are considerable, as our previous analysis showed a median length of stay of 3.96 days, although we are not comparing matched cohorts. Full article

In June 2014, Albania was granted EU candidate status, thus starting a process of compliance with the membership criteria. In this context, a modern meat inspection approach in line with the European legislation was applied to a pig slaughterhouse in northern Albania in order to investigate the ante-mortem (AM) and post-mortem (PM) conditions and the relationship between these findings. For this purpose, 3930 pigs divided into 35 batches were evaluated over a 3-month period. The most frequent AM conditions recorded were tail lesions and dyspnea (9.1%), followed by skin (8.9%) and ear lesions (8.5%), while in the PM inspections, pleuritis was the most frequently observed condition (10.2%), followed by pneumonia (8.5%), liver alterations (5.7%), milk spot liver (3.8%), and pericarditis (3.3%). With the exception of liver alterations, the other PM lesions mentioned were positively associated with lesions on the ears (OR = 1.036; p < 0.001) and skin (OR = 1.026; p = 0.011) and dyspnea (OR = 1.021; p = 0.005), confirming the link between these variables and the health and welfare conditions of pigs on farms. Overall, the evidence that emerged from this Albanian slaughterhouse can be considered in line with other European contexts, especially in light of the considerable variability in the data present in the literature. Full article

Reduced productivity caused by infections, particularly respiratory diseases, is a serious problem in pig farming. We have previously reported polymorphisms in porcine pattern recognition receptor genes affecting molecular functions and demonstrated that the 2197A/C polymorphism in the nucleotide-binding oligomerization domain containing 2 (NOD2) gene influences porcine circovirus 2-induced mortality. Here, we investigated how these polymorphisms affect respiratory disease-induced lesions, using samples from a slaughterhouse dealing with pigs from two farms. Lung lesions were evaluated using two scoring systems, Goodwin (GW) and slaughterhouse pleuritis evaluation system (SPES), to determine the influence of Mycoplasma hyopneumoniae (Mhp) and Actinobacillus pleuropneumoniae (App), respectively. SPES scores were significantly higher when the 1205T allele of Toll-like receptor 5 (TLR5-1205T), rather than TLR5-1205C, was present. On the farm with more severe Mhp invasion, lower GW lesion scores were significantly associated with the presence of the NOD-like receptor family pyrin domain containing 3 (NLRP3)-2906G allele; where App invasion was worse, lower SPES scores were significantly associated with the presence of the NOD2-2197C allele. Combinations of polymorphisms in pattern recognition receptor genes can therefore be utilized for breeding for resistance against respiratory diseases in pigs. DNA markers of these polymorphisms can thus be used to improve productivity by reducing respiratory diseases due to bacterial pathogens in pig livestock. Full article