Search Results (96)

Background and Clinical Significance: Hemophagocytic lymphohistiocytosis (HLH) and autoimmune hemolytic anemia (AIHA) are both life-threatening hematologic syndromes that rarely present together outside of malignancy. Advanced acquired immunodeficiency syndrome (AIDS) creates a milieu of profound immune dysregulation and hyperinflammation, predisposing patients to atypical overlaps of these disorders. Case Presentation: A 30-year-old woman with poorly controlled AIDS presented with three weeks of jaundice, fever, and fatigue. Initial labs revealed pancytopenia, hyperbilirubinemia, and elevated ferritin level. Direct anti-globulin testing confirmed warm AIHA (IgG⁺/C3d⁺) with transient cold agglutinins. Despite intravenous immunoglobulin (IVIG), rituximab, and transfusions, she developed hepatosplenomegaly, extreme hyperferritinemia, and sIL-2R > 10,000 pg/mL, meeting HLH-2004 criteria. Bone marrow biopsy excluded malignancy; further work-up revealed Epstein–Barr virus (EBV) viremia and cytomegalovirus (CMV) reactivation. Dexamethasone plus reduced-dose etoposide transiently reduced soluble interleukin-2 receptor (sIL-2R) but precipitated profound pancytopenia, Acute respiratory distress syndrome (ARDS) from CMV/parainfluenza pneumonia, bilateral deep vein thrombosis (DVT), and an ST-elevation myocardial infarction (STEMI). She ultimately died of hemorrhagic shock after anticoagulation despite maximal supportive measures. Conclusions: This case underscores the diagnostic challenges of HLH-AIHA overlap in AIDS, where cytopenias and hyperferritinemia mask the underlying cytokine storm. Pathogenesis likely involved IL-6/IFN-γ overproduction, impaired cytotoxic T-cell function, and molecular mimicry. While etoposide remains a cornerstone of HLH therapy, its myelotoxicity proved catastrophic in this immunocompromised host, highlighting the urgent need for cytokine-targeted agents to mitigate treatment-related mortality. 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

Mycoplasma pneumoniae is a significant causative agent of atypical pneumonia in both children and adults. Timely and accurate diagnosis is crucial for appropriate patient management. Conventional methods for detecting M. pneumoniae, such as culture and serology, exhibit several limitations regarding sensitivity, specificity, and turnaround time. In contrast, real-time PCR is considered the most reliable, rapid, and sensitive technique for the diagnosis of M. pneumoniae infection. In this study, we adapted and validated an in-house real-time PCR assay for use on the fully automated Panther Fusion^® System. The validation process included two artificial samples, five external quality controls, and sixty-two patient samples. We evaluated the performance in terms of precision, sensitivity, linearity, and analytical sensitivity, comparing it to the original in-house assay. The Panther Fusion^® System demonstrated a broad dynamic range (16–1.6 × 10⁷ copies/reaction), a robust correlation (94%) with the in-house assay, and comparable sensitivity (46 copies/mL vs. 25 copies/mL). The concordance between the in-house real-time PCR and the Panther Fusion^® System was 100% for both clinical samples and external quality controls. The adaptation of the test to the Panther Fusion^® System enabled the inclusion of M. pneumoniae among the pathogens monitored for respiratory infection surveillance. Throughout 2024, we analyzed 2567 samples, with a peak positivity rate of 38% observed in August. These findings underscore the significance of employing the M. pneumoniae diagnostic assay on the Panther Fusion^® System which proves valuable for the detection of M. pneumoniae infections. This platform offers the advantages of increased automation and greater throughput potential compared to other platforms, enhancing the efficiency of respiratory pathogen detection in clinical settings. Full article

Background and Objectives: Schizophrenia is a disabling psychiatric condition, affecting around 1% of people worldwide. It has been ranked among the ten most disabling conditions globally. Alongside the psychological and social burdens imposed on individuals suffering from this disease, there are also serious complications regarding the physical health of these patients. Pneumonia is a significant cause of death in patients with schizophrenia. This group of patients also has a higher risk of developing pneumonia and all-cause mortality compared to those without schizophrenia, along with an increased overall mortality rate. A retrospective study revealed that advanced age, underweight, smoking, and the use of high-dose atypical antipsychotics increase the risk of pneumonia-related mortality in hospitalized patients. Our study aims to examine differences in factors associated with pneumonia in hospitalized patients with schizophrenia, before and after the COVID-19 pandemic, as well as to identify potential changes in clinical characteristics and outcomes. Materials and Methods: This is an observational, retrospective analysis, based on the review of medical records of psychiatric inpatients diagnosed with schizophrenia according to the DSM-5 criteria. Patients were selected according to the following criteria: both schizophrenia and pneumonia diagnoses, hospitalized in Spitalul Clinic de Psihiatrie si Neurologie Brasov during 1 March 2018–1 March 2020, and 1 March 2022–1 March 2024, respectively. Results: A total of 27 patients met the inclusion criteria; 13 patients (48%) were in the pre-pandemic group and 14 patients (52%) in the post-pandemic group. Contrary to other reports, our results showed relatively low pneumonia rates in hospitalized schizophrenia patients (1.02% pre-pandemic and 1.63% post-pandemic), and rates were higher in female patients (61.54% pre-pandemic and 71.43% post-pandemic). Post-pandemic, most cases (42.86%) were registered during summer, in a schizophrenia population with mostly urban residence and with lower smoking rates than the pre-pandemic group. Physical restraints were, however, more frequently utilized in the post-pandemic group. Conclusions: Pneumonia risk factors might register a change in the post-pandemic years. Polypharmacy and physical restraints are probably underestimated risk factors for pneumonia in schizophrenia patients, while a multidisciplinary approach and preventive measures might exert a protective role. Full article

Background and Objectives: Community-acquired pneumonia (CAP) remains a major health burden worldwide, with high morbidity and mortality, particularly among older adults and those with comorbidities. This study aimed to evaluate the etiological factors of CAP and to investigate systemic inflammatory markers (IL-6, IL-8, IFN-γ, and G-CSF) in blood samples collected from CAP patients to identify which markers could be targets for potential etiological, clinical, and therapeutic interventions. Materials and Methods: A prospective study was conducted in 41 patients with confirmed CAP hospitalised during the winter season of 2024–2025. Clinical, demographic, and laboratory data were collected at admission and seven days later. Serum IL-6, IL-8, IFN-γ, and G-CSF concentrations were measured using a multiplex assay. Results: Aetiology was identified in 87.8% of cases, with typical bacterial pathogens being more prevalent among older, smoking patients, while atypical pathogens were more common among younger, non-smoking patients. Hospitalisation and increased inflammatory markers were associated with older age. After seven days of treatment, significant decreases in IL-6, IFN-γ, and G-CSF concentrations were observed. IFN-γ levels were significantly higher in patients with atypical aetiology. Higher concentrations of IL-8 and G-CSF were associated with hospitalisation. IL-6 levels were positively correlated with age, C-reactive protein (CRP), and pneumonia severity index (PSI) scores. Conclusions: Systemic inflammatory markers, especially IL-6, IL-8, IFN-γ, and G-CSF, may be valuable tools in managing generalised pneumonia. They can help to differentiate etiologically, assess disease severity, and make treatment decisions. Full article

Accurate antimicrobial susceptibility testing (AST) of cefiderocol remains a diagnostic challenge, especially in infections caused by metallo-β-lactamase (MBL)-producing Klebsiella pneumoniae. While disk diffusion offers a cost-effective alternative to broth microdilution, it is highly sensitive to factors such as media composition and the presence of atypical colony morphology. The objective of this study was to evaluate how different agar media and interpretations of isolated colonies affect the performance and reliability of cefiderocol AST by disk diffusion. A total of 50 clinical K. pneumoniae MBL isolates were tested using disk diffusion on Columbia with blood, MacConkey, and chromogenic agars from three manufacturers. Inhibition zones were compared with MICs from broth microdilution. Statistical analyses included paired t-tests and Spearman correlation to assess media effects and zone morphology impact. Variability in inhibition zone diameters was observed between media, notably with chromogenic agar. The most consistent results were obtained using Graso Biotech and Thermo Fisher Columbia with blood agar. Isolated colonies were observed in over half the samples and, depending on how they were interpreted, led to major changes in classification accuracy. Up to 64% of results fell into the EUCAST area of technical uncertainty (ATU), and categorical agreement varied across media and interpretive criteria. Disk diffusion for cefiderocol may be used in resource-limited settings but only if rigorously standardized using validated media, consistent zone reading, and ATU-aware interpretive strategies. In borderline cases or when morphological anomalies are present, broth microdilution should be considered the sole reliable method. Clinical microbiologists are advised to exercise caution with ambiguous results and seek expert or confirmatory testing when needed. Full article

Mycoplasma pneumoniae is an atypical bacterium with a tropism for the respiratory tract, but it can also cause numerous extrapulmonary involvements. The incidence of high rates varies in epidemiological waves, occurring at a frequency of 3–7 years. Since the end of 2023, an increase in the incidence of M. pneumoniae infection cases has been noted internationally. We conducted a retrospective study of children hospitalized and confirmed with M. pneumoniae infection in our clinic during the last two epidemiological peaks. We retrieved data from the hospital database and divided the patients into two groups, corresponding to the years 2018–2019 and 2023–2024, respectively. Fisher’s exact test was used to compare the proportions. In the years 2023–2024, we observed a higher incidence of patients with respiratory failure (p = 0.032), pleural reaction (p = 0.016), and pulmonary consolidation (p = 0.016) compared to the group in the years 2018–2019. Gastrointestinal involvement was more frequent in the years 2018–2019 (p = 0.004). The incidence of other extrapulmonary complications did not show significant differences. Infection with M. pneumoniae has varied clinical manifestations. In patients with community-acquired pneumonia, even in cases of consolidation, the possibility of infection with M. pneumoniae must also be considered. Full article

Background and Clinical Significance: Acute pediatric rhinosinusitis is most commonly caused by Streptococcus pneumoniae, Haemophilus influenzae, and Moraxella catarrhalis. The involvement of Enterobacter species is rare and typically linked to chronic or nosocomial infections. Typical cases of acute rhinosinusitis in children present with abundant nasal discharge, headache, and fever and are generally managed with systemic antibiotics, nonsteroidal anti-inflammatory drugs (NSAIDs), mucolytics, and topical intranasal treatment. Atypical presentations prompt heightened clinical attention, and depending on the symptoms and patient status, surgical interventions might be considered. Case Presentation: We report the case of a previously healthy 5-year-old boy presenting with painful unilateral palpebral edema, minimal ipsilateral nasal discharge, and persistent headache despite standard rhinosinusitis therapy. Imaging tests revealed complete right maxillary sinus opacification. As the clinical response to ceftriaxone and dexamethasone was minimal, we opted for endoscopic sinus surgery. A nasal swab culture identified Enterobacter spp. in the nasal discharge. Conclusions: Unusual pathogens like Enterobacter spp. can cause acute sinusitis in children without prior risk factors. Early surgical intervention and culture-adjusted antimicrobial therapy remain critical for favorable outcomes. Full article

Background: Primary lung tumors in pediatric patients are rare, predominantly malignant, and present diagnostic challenges due to symptom overlap with more common conditions such as inflammatory processes or asthma. Evidence-based approaches for managing these rare neoplasms in childhood are scarce. This retrospective study reports the experience of a pediatric referral center in diagnosing and treating these tumors. Methods: Pediatric primary lung tumors treated at Giannina Gaslini Children’s Hospital between January 2016 and January 2024 were included. Data on clinical presentation, histopathology, imaging, treatment approaches, and outcomes were systematically collected and analyzed. Results: Nine patients (six males and three females) were identified, with a mean age (±SD) at diagnosis of 8.81 ± 5 years. The most common clinical manifestation was recurrent pneumonia (four patients), followed by persistent cough and wheezing (three patients). The average duration of symptoms before diagnosis was 12.8 months ± 12.2 months. Histopathological diagnoses were typical carcinoid tumors (n = 2), atypical carcinoid tumors (n = 2), inflammatory myofibroblastic tumors (n = 2), congenital peribronchial myofibroblastic tumor (n = 1), myoepithelial carcinoma (n = 1), and pleuropulmonary blastoma (n = 1). Radical surgery resulted in complete response for seven patients, with a median follow-up of 52 months (IQR 39 months). The myoepithelial carcinoma was treated with multimodal therapy, relapsed after 17 months, and adjuvant chemotherapy is currently ongoing. Neoadjuvant chemotherapy for the pleuropulmonary blastoma is currently ongoing. Conclusions: Primary lung tumors in children, though rare, may have favorable outcomes when appropriately managed. Nonspecific clinical presentations often contribute to diagnostic delays. This study highlights the critical need of thorough evaluation in cases of persistent, therapy-resistant aspecific respiratory symptoms. Early diagnosis, coupled with complete surgical resection, significantly improves prognosis. Full article

Background: The spontaneous rupture of the internal iliac artery (IIA) is an exceedingly rare vascular event, typically associated with congenital anomalies or degenerative conditions. This report details an unprecedented case of isolated IIA rupture in an elderly patient with evidence of plaque rupture but devoid of congenital vascular pathology. Case Presentation: An 81-year-old Caucasian male presented to the Emergency Department following a syncopal episode and acute right iliac fossa pain. His significant medical history was atrial fibrillation managed with anticoagulation (Apixaban), non-insulin-dependent diabetes mellitus, and recent hospitalization for multidrug-resistant Klebsiella pneumoniae pneumonia. Initial imaging with contrast-enhanced computed tomography revealed an aneurysmatic dilatation of the right IIA, indicative of rupture. An endovascular repair was performed, employing a combination of stent grafts to achieve proximal and distal sealing and to restore vascular continuity. Outcome: The patient exhibited hemodynamic stability throughout the perioperative period and was transferred to the general ward postoperatively. However, he suffered a recurrent rupture on the 30th postoperative day, prompting a second endovascular intervention to extend the graft landing zone into the common iliac artery. Intraoperative findings confirmed localized plaque rupture as the underlying trigger for the initial vessel rupture. He ultimately achieved clinical stability and was discharged on the 35th postoperative day. Discussion: This case illustrates the critical importance of recognizing spontaneous IIA rupture as a potential complication in elderly patients, particularly in the context of recent severe infections. While the relationship between the rupture and the Klebsiella pneumoniae infection remains speculative, this report underscores the necessity of further research into the role of infectious processes in vascular integrity and susceptibility to rupture. Conclusions: The successful management of this rare and complex vascular emergency using endovascular techniques underscores the evolving landscape of minimally invasive interventions. This case contributes to the limited existing literature on spontaneous IIA rupture and highlights the need for increased clinical vigilance regarding atypical presentations in similar patient populations. Full article

Background: Cocaine has been shown to cause cytotoxic neuronal damage, which has been implicated in cases of leukoencephalopathy. We present a case of cocaine-induced toxic encephalopathy resulting in predominant lesions to the gray matter on magnetic resonance imaging (MRI). Case Presentation: A 70-year-old female presented acutely with confusion, agitation, and disorientation. She was markedly hypertensive with other vital signs within normal range. On presentation to the emergency department, she was uncooperative and had an unsteady gait but showed no focal neurological deficits. Her lab work was positive for elevated cardiac troponins, elevated D-dimer, and a urine drug screen positive only for cocaine. Head computed tomography (CT) showed no hemorrhage and head CT angiogram showed no abnormalities and no significant vascular stenosis. Chest X-ray and CT showed diffuse ground glass opacities compatible with atypical pneumonia. Antibiotics were initiated to treat the pneumonia and antihypertensives were administered to manage her blood pressure. She was also given IV thiamine. Brain MRI showed restricted diffusion involving bilateral hippocampi, thalami, putamen, caudate, and right occipital lobe, findings suspicious for cytotoxic edema. After acute stabilization, the patient demonstrated profound anterograde and retrograde amnesia, which improved gradually over days to weeks. She was eventually discharged to a skilled nursing facility. Conclusion: To our knowledge, this is the first reported case of profound amnesia secondary to cocaine-induced toxic encephalopathy with bilateral hippocampal involvement. These symptoms correlate with the implicated neuroanatomical structures. This case demonstrates that cocaine may be implicated in toxic encephalopathy affecting the brain’s gray matter and highlights a unique presentation of these findings. Full article

Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in PIGW. This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia. We also illustrate evolving facial appearance and biochemical abnormalities. We identify two novel genotypes and the first frameshift variant, supporting a loss-of-function pathogenic mechanism. By merging our cohort with patients documented in the literature, we deeply analyzed the clinical and genetic features of 16 patients with PIGW-related disorder, revealing a severe multisystemic condition deserving complex management and with uncertain long-term prognosis. We consider the role of PIGW within the critical 17q12 region, which is already associated with genomic disorders caused by deletion or duplication and characterized by variable expressivity. Finally, we discuss PIGW dosage effects and a second hit hypothesis in human development and disease. Full article

The hospital-at-home (HaH) model delivers hospital-level acute care, including diagnostics, monitoring, and treatments, in a patient’s home. It is particularly effective for managing conditions such as pneumonia. Point-of-care ultrasonography (PoCUS) is a key diagnostic tool in the HaH model, and it often serves as a substitute for imaging-based diagnosis in the HaH setting. Both standard and handheld ultrasound equipment are suitable for lung ultrasound (LUS) evaluation. Curvelinear and linear probes are typically used. Patient positioning depends on their clinical condition and specific diagnostic protocols. To enhance sensitivity, we recommend using at least 10-point protocols supported by studies for pneumonia. Five essential LUS patterns should be identified, including A-line, multiple B-lines (alveolar-interstitial syndrome), confluent B-lines, subpleural consolidation, and consolidation with air bronchogram. Pleural effusion is common, and its internal echogenicity can indicate severity and the need for invasive procedures. The current evidence on various etiologies and types of pneumonia is limited, but LUS demonstrates good sensitivity in detecting abnormal sonographic patterns in atypical pneumonia, tuberculosis, and ventilator-associated pneumonia. Further LUS studies in the HaH setting are required to validate and generalize the findings. Full article

Atypical bacterial pathogens present the ability to induce pulmonary damage. At present, there are no available phenotypic diagnosis tests that achieve up to 100% reliability. Therefore, clinicians must utilise molecular techniques for the detection and identification of these pathogens. The main objective of this research was to evaluate the prevalence of atypical bacteria in paediatric patients from different age groups. A total of 609 clinical samples were collected from paediatric patients who presented with an adverse respiratory condition during the period from March 2021 to February 2024. DNA was extracted from the samples, and end-point PCR was performed to detect atypical bacteria. Statistical analyses were performed to evaluate the bacterial prevalence and assess clinical data from newborns and mothers that could be related to RDS. A total of 139 patients exhibited at least one atypical organism (22.82%). Ureaplasma parvum was more prevalent in neonates, while M. pneumoniae and C. pneumoniae were more prevalent in older infants. Atypical bacteria can be present in all seasons of the year, but their prevalence increases during hot weather. Mixed infections due to atypical bacteria may occur. The risk factors related to the development of RDS are prematurity, low weight, and orotracheal intubation. Full article

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the structure and function of cilia, primarily impacting the respiratory system. Kartagener syndrome, a subset of PCD, is characterized by situs inversus, bronchiectasis, and chronic sinusitis. Patients with PCD are prone to recurrent respiratory infections due to impaired ciliary function, which hinders effective mucus clearance and promotes pathogen colonization. This case report describes a 24-year-old woman with congenital Kartagener syndrome who developed eosinophilic pneumonia caused by Toxocara canis, a rare parasitic infection that less commonly affects the lungs. Despite initial treatment for a presumed bacterial infection, the patient’s symptoms persisted. Further diagnostics revealed elevated eosinophil counts, total IgE, and the presence of Toxocara canis antibodies. The patient was treated with albendazole, resulting in significant symptom improvement and a reduction in inflammatory markers. This case underscores the diagnostic challenges in treating PCD patients, where atypical infections must be considered, particularly when standard treatments prove ineffective. The complexity of the patient’s condition required interdisciplinary management, integrating parasitological, immunological, and respiratory expertise to ensure appropriate treatment. The case highlights the need for further research into the interactions between congenital respiratory disorders such as Kartagener syndrome and parasitic infections. It also emphasizes the importance of a comprehensive diagnostic approach in managing rare genetic diseases complicated by opportunistic infections. Early detection of parasitic infections in PCD patients is crucial to preventing severe complications, and this case reinforces the necessity of considering parasitic causes in atypical pneumonia cases. Full article