Tuberculosis (TB) is a multisystemic contagious disease produced by Mycobacterium tuberculosis complex bacteria (MTBC), with a prevalence of 65:100,000 inhabitants in Romania (six times higher than the European average). The diagnosis usually relies on the detection of MTBC in culture. Although this is a sensitive method of detection and remains the “gold standard”, the results are obtained after several weeks. Nucleic acid amplification tests (NAATs), being a quick and sensitive method, represent progress in the diagnosis of TB. The aim of this study is to assess the assumption that NAAT using Xpert MTB/RIF is an efficient method of TB diagnosis and has the capacity to reduce false-positive results. Pathological samples from 862 patients with TB suspicion were tested using microscopic examination, molecular testing and bacterial culture. The results show that the Xpert MTB/RIF Ultra test has a sensitivity of 95% and a specificity of 96.4% compared with 54.8% sensitivity and 99.5% specificity for Ziehl–Neelsen stain microscopy, and an average of 30 days gained in the diagnosis of TB compared with bacterial culture. The implementation of molecular testing in TB laboratories leads to an important increase in early diagnostics of the disease and the prompter isolation and treatment of infected patients.

Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene and is characterized by altered amino acid metabolism. More than 1500 known PAH variants intricately determine a spectrum of metabolic phenotypes. We aim to report on clinical presentation and PAH variants identified in 23 hyperphenylalaninemia (HPA)/PKU Romanian patients. Our cohort exhibited classic PKU (73.9%, 17/23), mild PKU (17.4%, 4/23), and mild HPA (8.7%, 2/23). Severe central nervous system sequelae are frequent in our cohort in late-diagnosis symptomatic patients, which highlights yet again the significance of an early dietary treatment, neonatal screening and diagnosis, and facilitated access to treatment. Next-generation sequencing (NGS) identified a total of 11 PAH pathogenic variants, all previously reported, mostly missense changes (7/11) in important catalytic domains. c.1222C>T p.Arg408Trp was the most frequent variant, with an allele frequency of 56.5%. Twelve distinct genotypes were identified, the most frequent of which was p.Arg408Trp/p.Arg408Trp (34.8%, 8/23). Compound heterozygous genotypes were common (13/23), three of which had not been previously reported to the best of our knowledge; two correlated with cPKU and one showed an mPKU phenotype. Generally, there are genotype–phenotype correlation overlaps with the public data reported in BIOPKUdb; as our study shows, clinical correlates are subject to variation, in part due to uncontrolled or unknown epigenetic or environmental regulatory factors. We highlight the importance of establishing the genotype on top of using blood phenylalanine levels.

Background/Aim: The incidence and characteristics of pediatric thrombotic events have become increasingly recognized, due to the enhanced utilization of advanced diagnostic techniques. Pediatric thrombosis remains less frequent than in adults, often manifesting in those with underlying congenital or acquired risk factors. This study aimed to establish epidemiological data on pediatric thrombotic events in Bihor County, Romania, highlighting the challenges of diagnosis in smaller medical centers and proposing a relevant diagnostic and treatment algorithm. Patients and Methods: This retrospective study, conducted over 22 years at the Emergency County Clinical Hospital Bihor, identified 39 pediatric patients diagnosed with thrombotic events using electronic medical records. Results: Most patients (82.1%) were diagnosed between 2013 and 2024, with a slight male predominance. The age distribution shows two peak clusters: newborns up to one year and adolescents. The majority of cases (53.8%) were venous thromboembolism, followed by arterial thromboembolism at 41%, while 5.1% involved both types. Cerebral thrombosis was the most common, followed by lower and upper limb events. Inherited thrombophilia factors were found in all patients tested, with antithrombin, protein S, and protein C deficiencies identified. Malignancy was the most frequently acquired risk factor, and PAI-1 4G/5G was the most common genetic variant detected among inherited factors. Conclusion: This study highlights the significant rise in pediatric thromboembolism recognition over the past two decades; however, underdiagnosis remains an issue. Improved awareness among healthcare professionals is crucial, particularly for unprovoked thrombosis cases where a thorough thrombophilia panel and the involvement of a multidisciplinary team may be necessary.

Background: Antimicrobial resistance is a growing global health threat, with antibiotic misuse in pediatric populations being a significant contributing factor. In Romania, antibiotic consumption and resistance rates are among the highest in Europe. Objective: To assess Romanian parents’ knowledge, attitudes, and practices regarding antibiotic use in children, and to identify key misconceptions and behavioral risks contributing to inappropriate antibiotic use. Methods: A cross-sectional survey was conducted among 400 parents of hospitalized children in a pediatric department in Romania. Participants completed a 15 item structured questionnaire. Data were analyzed using descriptive statistics, chi-square tests, and binary logistic regression to examine associations and control for potential confounding effects between education level, residential environment, and parental misconceptions regarding antibiotic use. Results: Among the 400 surveyed caregivers, 86% (n = 344) held at least one misconception regarding antibiotic use. Additionally, 42.5% (n = 170) of participants reported that they had never heard of the concept of antibiotic resistance. Misconceptions were significantly more prevalent among individuals with lower levels of education and those residing in rural areas (p < 0.001). While 89.8% (n = 359) stated that they had never administered antibiotics to their children without a physician’s recommendation, a separate subset of 28% (n = 112) acknowledged that they had asked a doctor to prescribe antibiotics for their child. Moreover, 23.3% (n = 93) reported seeking a second medical opinion when antibiotics were not initially prescribed. Conclusions: Despite high adherence to medical advice, widespread misconceptions persist. These findings highlight the need for targeted, population-specific educational interventions to promote rational antibiotic use and address AMR in high-burden settings like Romania.

Treating Ewing's Sarcoma of the thorax (Askin's tumor) with antineoplastic therapy in a malnourished cystic fibrosis patient colonized with Pseudomonas aeruginosa and Staphylococcus aureus may carry a significant potential for complications. We present the case of a known cystic fibrosis patient, diagnosed with Askin's tumor 5 years ago. Despite facing severe neutropenia, exacerbations of cystic fibrosis with Pseudomonas aeruginosa infections, and challenges in maintaining adequate caloric intake during the oncological treatment, the patient's outcome has been favorable. Chemotherapy doses had to be adjusted, and continuous antibiotic treatment was introduced throughout the course of therapy to reduce the frequency and intensity of exacerbations. Approximately 5 years after the cancer diagnosis, with no signs of relapse, the patient was started on CFTR (Cystic fibrosis transmembrane conductance regulator) modulator treatment. This intervention has successfully corrected the weight deficit. The coincidence of Ewing's sarcoma of the chest wall and cystic fibrosis in a single patient is 2.857 × 10⁻⁵% and to the best of our knowledge, this scenario has not been documented before.

Background: The introduction of the “trace” category in the Xpert MTB/RIF Ultra assay has significantly improved the sensitivity of molecular tuberculosis diagnostics. While it enhances sensitivity, especially in paucibacillary and extrapulmonary cases, its specificity remains debatable, making its interpretation outside select populations a topic of clinical uncertainty. Objectives: This study evaluates the diagnostic and clinical significance of trace-positive results obtained with the Xpert MTB/RIF Ultra assay in the context of a high-incidence TB setting, examining their association with clinical, imaging, and microbiological findings. Methods: A retrospective analysis was conducted on 65 samples with trace-positive Xpert Ultra results, collected over a six-year period from 59 distinct patients in a general hospital in Romania. Correlations were assessed with microscopy, culture, clinical features, imaging, treatment initiation, and prior TB history. A composite reference standard was used for diagnostic accuracy evaluation. Results: Of the 65 trace-positive samples, 29 (44.6%) were culture-positive and 5 (7.7%) were smear-positive. A high proportion of patients, 56 (94.9%), presented with TB-compatible symptoms, and 47 (79.6% of those with imaging) had highly suggestive radiological findings. Based on the composite reference standard, 47 patients (79.7%) were ultimately diagnosed with active TB. Anti-TB treatment was initiated in 44 patients (74.5%). Trace positivity was observed across various specimen types, including sputum, pleural fluid, and cerebrospinal fluid. Conclusions: In high TB burden environments, trace-positive Xpert Ultra results frequently reflect true disease when interpreted within the appropriate clinical and imaging framework. Our findings indicate that, in regions with high tuberculosis incidence such as Romania, trace-positive Xpert Ultra results may contribute meaningfully to clinical decision-making when interpreted alongside clinical and radiological findings, in alignment with current WHO guidance.