Search Results (284)

Background: Patients with mastocytosis may present with exacerbated respiratory symptoms and lung diseases resulting from mast cell mediator release. However, their prevalence and severity level remain under debate. The study aims to analyze the prevalence of respiratory symptoms and the usefulness of lung function tests like spirometry, diffusing capacity of the lung for carbon monoxide (DLCO), and high-resolution computed tomography (HRCT) of the chest in mastocytosis patients presenting with dyspnea, cough, and exercise intolerance. Methods: We included 104 patients with mastocytosis and 71 healthy controls. Data collection encompassed patient interview, clinical examination, spirometry, DLCO, and chest HRCT. Diagnosis of mastocytosis included bone marrow biopsies and serum tryptase measurements. Results: Compared to controls, patients with mastocytosis exhibited significantly lower values in FEV1/VC ratio, absolute DLCO/VA, predicted DLCO/VA, absolute DLCOcSB, and predicted DLCOcSB (p < 0.001). Commonly reported respiratory symptoms included dyspnea (36.5%), chest tightness (22.1%), and wheezing (9.6%). Airway obstruction was identified in 7.7% of patients; however, it appeared to be independent of the mastocytosis subtype. A decreased DLCO/VA ratio was observed in 4.8% of patients, but HRCT did not reveal any evidence of underlying lung disease. Conclusions: Mastocytosis appears to be a risk factor for the occurrence and exacerbation of respiratory symptoms. However, airway obstruction and impairment of the alveolar–capillary membrane seem to occur independently of the clinical subtype of mastocytosis. Additionally, the causal relationship between pulmonary involvement, mast cell infiltration of the alveolar–capillary membrane, and the systemic circulation of mast cell mediators remains unclear and requires further research. Full article

Background: As COVID-19 transitions to an endemic phase, long COVID symptoms remain a significant public health issue affecting both physical and mental health. A notable proportion of college students report symptoms such as fatigue, cough, and brain fog persisting for weeks or months post-infection. Objectives: This study explored the prevalence and contributing factors of long COVID symptoms among both infected and uninfected students in medicine-related departments. Methods: A cross-sectional study was conducted using online self-reported questionnaires completed by 1523 undergraduate and graduate students in medicine-related departments at a medical university. Participants who had tested positive for COVID-19 within the past three months were excluded. The survey assessed long COVID symptoms, with comparisons conducted between infected and uninfected groups. Multivariate logistic regression identified risk factors associated with long COVID symptoms. Results: Of the 1118 participants, 47.5% of those with a prior COVID-19 diagnosis reported long COVID symptoms within the past month. Significant differences between the infected and uninfected groups were observed in physical, cognitive, and psychological health. Logistic regression identified that prior COVID-19 diagnosis had an association with the presence of long COVID symptoms (odds ratio = 1.48, p = 0.024) after adjusted model analysis. Meanwhile, higher anxiety levels (odds ratio = 1.09, p < 0.001) and a BMI ≥ 24 (odds ratio = 4.50, p < 0.01) were identified as significant risk factors for post-infection syndrome among previously infected students. Sex and exercise habits also influenced symptom prevalence. Conclusions: Since late 2023, with those experiencing cumulative infections surpassing half of Taiwan’s population, long COVID symptoms have persisted as a widespread concern affecting both physical and mental health, continuing into 2025. This study underscores critical risk factors and symptom patterns among students in medicine-related departments, reinforcing the urgency of sustained surveillance and targeted interventions to facilitate comprehensive recovery. Full article

Background: Community-acquired pneumonia (CAP) is the leading cause of mortality in children from middle- to low-income countries; diagnosing CAP includes clinical evaluation, laboratory testing and pulmonary imaging. Lung ultrasound (LUS) is a sensitive, accessible, non-invasive, non-radiant method for accurately evaluating the lung involvement in acute diseases. Whether LUS findings can be correlated with CAP’s severity or sepsis risk remains debatable. This study aimed to increase the importance of LUS in diagnosing and monitoring CAP. We analyzed 102 children aged 1 month up to 18 years, hospital admitted with CAP. Mean age was 5.71 ± 4.85 years. Underweight was encountered in 44.11% of children, especially below 5 years, while overweight was encountered in 11.36% of older children and adolescents. Patients with CAP presented with fever (79.41%), cough (97.05%), tachypnea (18.62%), respiratory failure symptoms (20.58%), chest pain (12.74%) or poor feeding. Despite the fact that 21.56% had clinically occult CAP and six patients (5.88%) experienced radiologically occult pneumonia, CAP diagnosis was established based on anomalies detected using LUS. Conclusions: Detailed clinical examination with abnormal/modified breath sounds and/or tachypnea is suggestive of acute pneumonia. LUS is a sensitive diagnostic tool. A future perspective of including LUS in the diagnosis algorithm of CAP should be taken into consideration. Full article

Background and Clinical Significance: Antisynthetase syndrome (ASyS) is a rare autoimmune entity defined by the presence of anti-aminoacyl-t ribonucleic acid (RNA) synthetase autoantibodies and classically associated with a triad of interstitial lung disease (ILD), inflammatory myopathy, and arthritis. Additional clinical features may include Raynaud’s phenomenon and “mechanic’s hands”. Among antisynthetase antibodies, anti-PL-12 is notably associated with predominant or isolated ILD and may occur in the absence of clinically evident myositis, thereby complicating timely diagnosis. Case Presentation: We are presenting a 45-year-old non-smoking female patient with a prior diagnosis of seronegative rheumatoid arthritis (RA) who developed progressive dyspnea, dry cough, and sicca symptoms. High-resolution computed tomography revealed a nonspecific interstitial pneumonia (NSIP) pattern. Despite normal creatine kinase and lactate dehydrogenase levels, serological work-up revealed positive anti-PL-12 and anti-Ro52 antibodies, supporting a diagnosis of antisynthetase syndrome without myositis, fulfilling the diagnostic criteria for ASyS per Connors and Solomon. Treatment with corticosteroids and cyclophosphamide induced clinical and functional respiratory improvement, while azathioprine was initiated for maintenance. Conclusions: This case underscores the clinical heterogeneity of antisynthetase syndrome and highlights the diagnostic challenge posed by anti-PL-12–associated ILD in the absence of myositis. Importantly, it demonstrates that in patients with pre-existing rheumatologic diagnoses, the emergence of atypical pulmonary manifestations warrants repeat serologic evaluation to assess ASyS and other autoimmune conditions. Early diagnosis and immunosuppressive treatment are essential to optimize outcomes. Full article

Background: Scrub typhus (ST) is caused by Orientia tsutsugamushi (OT) infection, which is transmitted to humans through the bites of infected chiggers. The clinical presentations range from mild to life-threatening multi-organ dysfunction. This report describes a cluster of ST cases involving five oil palm estate workers in Pekan district, Pahang, Malaysia. Methods: The clinical history, laboratory, and entomological investigation were conducted on the patients, including the index case and four suspected cases in the cluster. Polymerase chain reaction (PCR) tests for OT and genotyping were performed on the patients’ blood and urine samples. Serological testing by indirect immunoperoxidase (IIP) test against Rickettsial diseases was also conducted. Principal Findings: Patients presented with fever, myalgia, headache, rash, cough, and eschar. The index case developed severe ST complicated by acute kidney injury (AKI) and respiratory distress, requiring intubation and ventilation at the intensive care unit of a tertiary hospital. ST was confirmed through PCR analysis of a urine sample, showcasing a novel diagnostic approach. The other four cases were confirmed by a four-fold rise in immunoglobulin G (IgG) antibody titers. Conclusions: oil palm estate workers are at high risk for chigger exposure in Malaysia. Awareness among clinicians and the public of ST is crucial for effective prevention, accurate diagnosis, and optimal management. Full article

Background/Objectives: Primary malignant lung tumors in children are rare and diagnostically challenging. This study presents a single-center experience in the diagnosis and treatment of these tumors, emphasizing the role of histopathological and genetic profiling in informing individualized therapeutic strategies. Methods: We retrospectively reviewed records of seven pediatric patients (ages 2–18) treated from 2015 to 2025. Diagnostics included laboratory tests, chest CT, bronchoscopy, and histopathological/immunohistochemical analysis. Treatment primarily involved surgical resection, complemented by chemo-, radio-, or targeted therapies when indicated. Results: Inflammatory myofibroblastic tumor (IMT) represented the most commonly diagnosed entity (3/7 cases). The tumors presented with nonspecific symptoms, most frequently dry cough. Tumor type distribution was age-dependent, with aggressive forms such as pleuropulmonary blastoma predominantly affecting younger children, whereas IMT and carcinoid tumors were more common in older patients. Surgical resection remained the mainstay of treatment in the majority of cases. Bronchoscopy served as a valuable adjunct in the initial management of tumors exhibiting intraluminal growth, allowing for direct visualization, tissue sampling, and partial debulking to alleviate airway obstruction. In patients with an initially unresectable IMT harboring specific gene fusion rearrangement (e.g., TFG::ROS1), neoadjuvant targeted therapy with crizotinib enabled adequate tumor shrinkage to allow for subsequent surgical resection. Two patients in the study cohort died as a result of disease progression. Conclusions: A multidisciplinary diagnostic approach—integrating radiologic, bronchoscopic, histopathological, and genetic evaluations—ensures high diagnostic accuracy. While conventional treatments remain curative in many cases, targeted therapies directed at specific molecular alterations may offer essential therapeutic options for selected patients. Full article

(1) Background: Murine typhus, caused by Rickettsia typhi, is a neglected rickettsial disease and an underdiagnosed cause of acute febrile illness (AFI), particularly in endemic regions such as Indonesia. (2) Case description: We report a case series of four patients presenting with AFI of less than seven days in duration. Three patients were admitted with moderate disease, while one presented with septic shock with the macrophage activation-like syndrome (MALS) phenotype. Common clinical features included myalgia and headache; additional symptoms included cough, sore throat, and abdominal pain. Laboratory findings revealed bicytopenia, elevated transaminases, and raised inflammatory and bacterial infection markers. Common tropical infections—dengue, typhoid fever, and leptospirosis—and other potential sources of infection were excluded early during hospitalization. Diagnosis was confirmed by nucleic acid amplification testing (NAAT), which detected R. typhi in all patients. Doxycycline was initiated following confirmation, leading to defervescence within 36–48 h. (3) Conclusions: Murine typhus remains an underrecognized cause of febrile illness in Indonesia. In the near future, the inclusion of rickettsial testing in the diagnostic protocol of AFI will be crucial, as it enables timely administration of effective, low-cost treatment. Full article

Background: Osteogenesis imperfecta (OI) is a rare genetic connective tissue disorder characterized by bone fragility, most often caused by pathogenic variants in type I collagen genes. In this context, we aimed to describe the clinical and epidemiological characteristics of patients with OI who were hospitalized for coronavirus disease (COVID)-19 in Brazil between 2020 and 2024. Methods: We conducted a retrospective descriptive analysis using data from the Brazilian Unified Health System (SUS, which stands for the Portuguese Sistema Único de Saúde) through the Open-Data-SUS platform. Patients with a confirmed diagnosis of OI and hospitalization due to COVID-19 were included. Descriptive statistical analysis was performed to evaluate demographic, clinical, and outcome-related variables. We included all hospitalized COVID-19 cases with a confirmed diagnosis of OI between 2020 and 2024. Results: Thirteen hospitalized patients with OI and COVID-19 were identified. Most were adults (9; 69.2%), male (7; 53.8%), self-identified as White (9; 69.2%), and all were residents of urban areas (13; 100.0%). The most frequent symptoms were fever (10; 76.9%), cough (9; 69.2%), oxygen desaturation (9; 69.2%), dyspnea (8; 61.5%), and respiratory distress (7; 53.8%). Two patients had heart disease, one had chronic lung disease, and one was obese. As for vaccination status, five patients (38.5%) had been vaccinated against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Four patients (30.8%) required admission to an intensive care unit (ICU), and six (46.2%) required noninvasive ventilatory support. Among those admitted to the ICU, only two required invasive mechanical ventilation. The clinical outcome was death in two cases (15.4%). Both patients were male, White, and had not been vaccinated against SARS-CoV-2. One was 47 years old, was not admitted to the ICU, but required noninvasive ventilation. Despite the underlying condition most patients had favorable outcomes, consistent with an international report. Conclusions: This is the first report to describe the clinical and epidemiological profile of patients with OI hospitalized for COVID-19 in Brazil, providing initial insights into how a rare bone disorder intersects with an acute respiratory infection. The generally favorable outcomes observed—despite the underlying skeletal fragility—suggest that individuals with OI are not necessarily at disproportionate risk of severe COVID-19, particularly when appropriately monitored. The occurrence of deaths only among unvaccinated patients underscores the critical role of SARS-CoV-2 vaccination in this population. Although pharmacological treatment data were unavailable, the potential protective effects of bisphosphonates and vitamin D merit further exploration. These findings support the need for early preventive strategies, systematic vaccination efforts, and dedicated clinical protocols for rare disease populations during infectious disease outbreaks. Full article

The rapid spread of COVID-19 increased the need for speedy diagnostic tools, which led scientists to conduct extensive research on deep learning (DL) applications that use chest imaging, such as chest X-ray (CXR) and computed tomography (CT). This review examines the development and performance of DL architectures, notably convolutional neural networks (CNNs) and emerging vision transformers (ViTs), in identifying COVID-19-related lung abnormalities. Individual ResNet architectures, along with CNN models, demonstrate strong diagnostic performance through the transfer protocol; however, ViTs provide better performance, with improved readability and reduced data requirements. Multimodal diagnostic systems now incorporate alternative methods, in addition to imaging, which use lung ultrasounds, clinical data, and cough sound evaluation. Information fusion techniques, which operate at the data, feature, and decision levels, enhance diagnostic performance. However, progress in COVID-19 detection is hindered by ongoing issues stemming from restricted and non-uniform datasets, as well as domain differences in image standards and complications with both diagnostic overfitting and poor generalization capabilities. Recent developments in COVID-19 diagnosis involve constructing expansive multi-noise information sets while creating clinical process-oriented AI algorithms and implementing distributed learning protocols for securing information security and system stability. While deep learning-based COVID-19 detection systems show strong potential for clinical application, broader validation, regulatory approvals, and continuous adaptation remain essential for their successful deployment and for preparing future pandemic response strategies. Full article

Pulmonary nocardiosis (PN) is a rare, opportunistic, and potentially life-threatening infection, especially in disseminated cases. This retrospective study aimed to characterize the clinical features of PN and assess the diagnostic utility of metagenomic next-generation sequencing (mNGS). We reviewed data from 19 patients diagnosed with PN between September 2019 and August 2022, including 3 with disseminated disease. Common symptoms included fever, cough, and sputum production, while chest imaging frequently revealed nodules, consolidations, exudates, cavities, and pleural effusions. The sensitivity of mNGS for detecting Nocardia was significantly higher than that of culture (100% vs. 36.84%, p < 0.001). mNGS successfully identified Nocardia species and co-infected pathogens. The most common species was Nocardia farcinica. Four PN cases were co-infected with Rhizomucor pusillus, Cryptococcus neoformans, Lichtheimia ramosa, and Aspergillus spp. Eighteen patients (94.7%) received trimethoprim-sulfamethoxazole (TMP-SMZ). Sixteen cases (84.2%) were improved or cured. Misdiagnosis is common due to the nonspecificity of clinical and imaging presentations of pulmonary nocardiosis. The timely combination of mNGS represents a promising approach to enhance the diagnosis of pulmonary nocardiosis and inform targeted antimicrobial therapy. TMP-SMZ is the first line of treatment. Full article

Background and Objectives: This study aims to evaluate the relevance of urethral pressure profile (UPP) measurements in the diagnosis of urodynamic stress incontinence (USI) in women with stress and mixed urinary incontinence (SUI and MUI). Materials and Methods: A cross-sectional chart review was used. All patients who had urodynamic studies (UDSs) in the urogynecology unit of an academic hospital over the last 6 months and complained of SUI or MUI were analyzed. Clinical examination included prolapse grading with the POP-Q system. The presenting symptoms, initial diagnosis before UDS, and results from flow studies—cystometrography (CMG), which included a 1-3-5 cough test at 300–350 mL bladder filling, and urethral pressure profilometry (UPP)—were recorded. p < 0.05 was considered significant in all statistical comparison tests; receiver operator characteristic (ROC) curves were also used to determine the best predictor of SUI diagnosis. Results: In total, 57 women were included in this study, with a mean age of 60.7 (±9.3). Upon UDS, 28 women (49.1%) demonstrated USI (Group 1), while 29 women (50.9%) did not demonstrate USI (Group 2). No differences between the two groups were noted during free uroflowmetry and the filling phase of CMG. However, the women in Group 2 had a significantly lower MUCP, FUL, and post-void residual after pressure flow compared to the women in Group 1 (p = 0.038, 0.003, and 0.04, respectively, upon Student’s t test for independent parameters). The ROC analysis indicated that when using MUCP and FUL for the diagnosis of USI, the AUCs are 0.663 (0.525–0.782) and 0.756 (0.623–0.861), respectively. Conclusions: By exhibiting correlations between low MUCP/FUL and USI, UPP appears to be a valid test for USI. The value of UPP in diagnosing USI in those with SUI and MUI appears to be clinically important. Further studies are needed in non-SUI patients, in addition to SUI subgroups and various incontinence treatment groups. Full article

Background: Neonatal influenza is a rare condition. Young infants have immature immune defenses and are unable to receive direct vaccination; this can result in significant illness. Maternal anti-influenza immunization during pregnancy provides passive antibodies to the newborn via transplacental transfer, significantly decreasing the incidence and severity of influenza in early infancy. Nevertheless, the vaccination coverage during pregnancy remains low in many regions, leaving certain neonates without adequate protection. Methods: We present three cases of laboratory-confirmed influenza infection in neonates admitted to the “Sf. Ioan” Clinical Emergency Pediatric Hospital in Galați and conduct a literature review. The clinical presentation, co-infections, timing of antiviral therapy, laboratory findings, maternal vaccination status, and outcomes (including the hospitalization duration and recovery) were systematically analyzed for each case. Results: All three neonates were full-term and previously healthy, born to mothers who had not received influenza vaccinations during their pregnancies. They presented at ages ranging from 2 to 4 weeks with fever, respiratory symptoms including a cough, nasal congestion, and respiratory distress, as well as feeding difficulties. One case involved a co-infection with Bordetella pertussis, which manifested as a severe paroxysmal cough, cyanosis, and apnea. Laboratory findings in the cases with influenza alone indicated leukopenia accompanied by normal C-reactive protein levels. In the co-infection case, leukocytosis, lymphocytosis, and thrombocytosis were observed. All the infants received oseltamivir treatment within 48 h of the symptom onset; the case with pertussis co-infection also received azithromycin. Each infant required supplemental oxygen, but none necessitated mechanical ventilation. Clinical improvement was observed in all cases, with hospitalization ranging from 6 to 7 days and complete recovery without complications. Conclusions: Neonatal influenza may result in considerable morbidity, particularly in infants born to unvaccinated mothers. Positive outcomes, however, have been correlated with early diagnosis and antiviral treatment. Pertussis co-infection may exacerbate clinical progression, underscoring the importance of maternal immunization against both influenza and pertussis. In this case series, we aim to present three cases of laboratory-confirmed influenza in neonates born to mothers who were not immunized against influenza during pregnancy. These cases highlight the clinical presentations of neonatal influenza, underscore the risks associated with pertussis co-infection, and reinforce the importance of maternal influenza and Tdap vaccination for preventing severe outcomes in newborns. Full article

Background: Exophiala dermatitidis is a dematiaceous, thermotolerant, yeast-like fungus increasingly recognized as an opportunistic pathogen in chronic airway diseases. While commonly associated with cystic fibrosis, its clinical significance in non-cystic fibrosis bronchiectasis (NCFB) remains unclear. Case Presentation: We report the case of a 66-year-old immunocompetent woman with a history of breast cancer in remission and NCFB, who presented with chronic cough and dyspnea. Chest CT revealed bilateral bronchiectasis with new pseudonodular opacities. Bronchoalveolar lavage cultures identified E. dermatitidis, along with Pseudomonas aeruginosa and methicillin-sensitive Staphylococcus aureus. Given clinical stability and the absence of systemic signs, initial therapy included oral voriconazole, levofloxacin, doxycycline, and inhaled amikacin. Despite persistent fungal isolation on repeat bronchoscopy, the patient remained asymptomatic with stable radiologic and functional findings. Antifungal therapy was discontinued, and the patient continued under close monitoring. The patient exhibited clinical and radiological stability despite repeated fungal isolation, reinforcing the hypothesis of persistent colonization rather than active infection. Discussion: This case underscores the diagnostic challenges in distinguishing fungal colonization from true infection in structurally abnormal lungs. In NCFB, disrupted mucociliary clearance and microbial dysbiosis may facilitate fungal persistence, even in the absence of overt immunosuppression. The detection of E. dermatitidis should prompt a comprehensive evaluation, integrating clinical, radiologic, and microbiologic data to guide management. Voriconazole is currently the antifungal agent of choice, though therapeutic thresholds and duration remain undefined. Conclusions: This report highlights the potential role of E. dermatitidis as an under-recognized respiratory pathogen in NCFB and the importance of a multidisciplinary, individualized approach to diagnosis and treatment. This case underscores the need for further research on fungal colonization in NCFB and the development of evidence-based treatment guidelines. Further studies are needed to clarify the pathogenic significance, optimal management, and long-term outcomes of E. dermatitidis in non-CF chronic lung diseases. Full article

Since the COVID-19 pandemic, the utilization of transthoracic ultrasonography (TTU) in the evaluation of pulmonary field artefacts has become standard practice among clinicians. However, there is a considerable lack of knowledge regarding the assessment of diaphragm mobility in the context of various lung diseases. Although numerous conditions are known to affect diaphragm mobility, including neurological, cardiovascular, and infectious diseases, it appears that pulmonary diseases may also limit the mobility of this major respiratory muscle. Despite the evidence of diaphragm mobility disorders in patients diagnosed with lung cancer, there is a discrepancy in the literature regarding the function of the diaphragm in individuals with chronic obstructive pulmonary disease (COPD). A shared aetiological factor frequently results in the co-occurrence of the aforementioned diseases. It is, however, possible to detect patients whose obstructive airway disease is caused only by the compression of infiltrative and nodal lesions rather than COPD. Bilateral TTU of diaphragmatic mobility in correlation with other available pulmonary function tests and radiological imaging may prove to be a valuable approach to isolating lung cancer patients with COPD overdiagnosis. Conversely, the overdiagnosis of COPD has been implicated in the potentially unnecessary and harmful use of inhaled medications with their adverse effects (e.g., cardiac arrhythmias, limb tremor, cough, and pneumonia), the failure to decrease obstruction in cases of other lung disorders, and the potential to contribute to the delayed diagnosis of the underlying condition responsible for the respiratory symptoms. This paper aims to provide a comprehensive overview of the utilization of ultrasound in the evaluation of diaphragm movement impairments for the detection of obstructions while also delineating the underlying limitations of this technique. Moreover, we propose a diagnostic algorithm for the purpose of excluding unilateral obstruction resulting from infiltrative neoplastic masses based on the ultrasound assessment of diaphragmatic mobility. Full article

Poor sleep quality and excessive daytime sleepiness are commonly reported by individuals with cystic fibrosis. The potential impact of comorbid sleep-disordered breathing (SDB), particularly obstructive sleep apnea (OSA), has not been extensively studied in the CF population. At present, there are no specific recommendations available to help clinicians identify patients with CF who are at increased risk of sleep disorders. Home sleep apnea testing using a validated peripheral arterial tonometry (PAT) device may offer an accurate diagnosis of OSA in a more convenient and low-cost method than in-lab polysomnography. In this single-center study of 19 adults with CF, we found an increased prevalence of OSA among individuals with CF compared to general population estimates. Although associations with an FEV < 70% predicted and a modified Mallampati score ≥ 3 were observed, these odds ratios did not reach statistical significance, likely reflecting limited power in this small pilot sample. There was no association found between the self-reported presence of nocturnal cough or snoring and OSA. We also found no association between OSA and abnormal scores on commonly used, validated sleep questionnaires, suggesting that CF-specific scales may be needed for effective screening in the CF clinic. Full article