BACKGROUND:In 2023, according to the World Health Organization (WHO), 10.8 million people worldwide developed tuberculosis. Tuberculosis remains a public health problem in the countries of the EU/EEA. OBJECTIVE:To analyze the epidemiological situation of tuberculosis in Poland in 2023 by comparing it with the situation in EU and EEA countries. MATERIAL AND METHODS:Analysis of cases registered in the National Tuberculosis Register in 2023 and drug susceptibility testing results; data from Statistics Poland on deaths due to tuberculosis in 2023; data from the NIZP PZH - PIB on tuberculosis cases as an AIDS-defining condition; and the ECDC report on tuberculosis in EU/EEA countries in 2023. RESULTS:In 2023, 4,436 cases of tuberculosis were registered in Poland. Pulmonary tuberculosis was diagnosed in 4,265 individuals (96.1% of all cases), 11.3 per 100,000 population. Extrapulmonary tuberculosis accounted for 171 cases (3.9% of all cases). Bacteriological confirmation was obtained in 3,460 cases of pulmonary tuberculosis (81.1%), with a notification rate of 9.2 per 100,000. Cases of foreign origin accounted for 7.9%. MDR-TB was diagnosed in 99 patients (3.1% of cases with drug susceptibility results); three individuals had isolated rifampicin resistance. Tuberculosis notification rates increased with age. In 2023, 51 cases of tuberculosis were reported among children aged under 14 years and 62 cases among adolescents aged 15-19 years, corresponding to rates of 0.9 and 3.3 per 100,000, respectively. The notification rate among men was three times higher than among women. Foreign nationals accounted for 7.9% of cases. Tuberculosis was the cause of death in 483 individuals. CONCLUSIONS:In 2023, tuberculosis notification rates in Poland were 3.5% higher than in 2022. The proportion of MDR-TB cases was lower than in EU/EEA countries. The proportion of children aged under 14 years among all tuberculosis patients in Poland was 1.1%, compared with 4.5% in EU/EEA countries. Tuberculosis mortality in Poland has not decreased.
Background Pathogenic variants in SYNGAP1 are a major cause of developmental and epileptic encephalopathy, typically presenting with intellectual disability, epilepsy, and autism spectrum disorder. Despite increasing recognition worldwide, genotype–phenotype data from Central and Eastern Europe remain limited. Methods We conducted a nationwide study of 30 unrelated Polish pediatric patients carrying pathogenic or likely pathogenic SYNGAP1 variants. Variant classification followed ACMG/ClinGen guidelines. Clinical phenotyping used a structured numerical scoring system. Genotype–phenotype relationships were explored with non-metric multidimensional scaling and PERMANOVA. Results We identified 30 pathogenic or likely pathogenic variants, including truncating, splice-site, and missense substitutions; 50% were novel. Haploinsufficiency emerged as the main pathogenic mechanism, though some missense variants suggested additional effects. Phenotypic analysis showed marked heterogeneity, but severe global developmental delay, intellectual disability, and epilepsy were consistently observed. Epilepsy affected > 80% of patients and frequently required polytherapy. Genotype–phenotype clustering demonstrated broader symptom variability in missense carriers compared with truncating or splice-site variants. Conclusion This first national cohort study from Poland broadens the SYNGAP1 mutational spectrum and highlights the consistently severe neurodevelopmental phenotype, particularly epilepsy and intellectual disability. Our results refine genotype–phenotype correlations, emphasize the clinical impact of haploinsufficiency, and provide a framework for patient stratification in future trials and emerging therapeutic approaches.
Background Foreign body aspiration (FBA) is a critical pediatric emergency that can lead to severe respiratory complications or death if not addressed promptly. Methods This cross-sectional study evaluated parental knowledge of FBA risks, symptoms, prevention strategies, and appropriate first aid actions among 333 parents of children aged 7 years or younger in Poland. Results The survey revealed substantial knowledge gaps, particularly in recognizing the signs of an ineffective cough, an effective cough, and the appropriate response for an infant with an ineffective cough, with 41.7%, 40.8%, and 19.8% of respondents, respectively, providing “no” answers. Additionally, 25.5% of parents were unaware that children under the age of 2 are at the highest risk for FBA. Medical education and structured training were associated with better knowledge, whereas male respondents and urban dwellers showed greater knowledge gaps compared to female respondents and those living in rural area. Logistic regression analysis identified several predictors of knowledge deficits, including male sex (odds ratio [OR] = 4.094; p = 0.005), residence in large cities (OR = 4.018; p = 0.011), and first aid training received through driving schools (OR = 1.926; p = 0.033). Conclusions These findings underscore the critical need for targeted educational programs and public health interventions to enhance both parental awareness and preparedness, and to reduce pediatric morbidity and mortality associated with FBA. Recommendations include mandatory age-specific training at key life stages, such as during pregnancy, the early postnatal period, and the transition to childcare, and the integration of clinician-led instruction into routine pediatric checkups.
