Search Results (29)

Background and Objectives: Although survival after congenital cardiac malformations (CCM) has improved, little is known about Romanian children’s own perceptions of health-related quality of life (HRQoL) or their emotional burden. We compared HRQoL, depressive symptoms, and anxiety across lesion severity strata and explored clinical predictors of impaired HRQoL. Methods: In this cross-sectional study (1 May 2023–30 April 2025), 72 children (mean age 7.9 ± 3.0 years, 52.8% male) attending a tertiary cardiology clinic completed the Romanian-validated Pediatric Quality of Life Inventory (PedsQL), Children’s Depression Inventory (CDI) and the Screen for Child Anxiety-Related Emotional Disorders questionnaire (SCARED-C, child version). Lesions were classified as mild (n = 22), moderate (n = 34), or severe (n = 16). Left-ventricular ejection fraction (LVEF) and unplanned cardiac hospitalisations over the preceding 12 months were extracted from electronic records. Results: Mean PedsQL total scores declined stepwise by severity (mild 80.9 ± 7.3; moderate 71.2 ± 8.4; severe 63.1 ± 5.4; p < 0.001). CDI and SCARED-C scores rose correspondingly (CDI: 9.5 ± 3.0, 13.6 ± 4.0, 18.0 ± 2.7; anxiety: 15.2 ± 3.3, 17.2 ± 3.8, 24.0 ± 3.4; both p < 0.001). PedsQL correlated positively with LVEF (r = 0.51, p < 0.001) and negatively with hospitalisations (r = −0.39, p = 0.001), depression (r = −0.44, p < 0.001), and anxiety (r = −0.47, p < 0.001). In multivariable analysis, anatomical severity remained the sole independent predictor of lower HRQoL (β = −8.4 points per severity tier, p < 0.001; model R² = 0.45). Children with ≥ 1 hospitalisation (n = 42) reported poorer HRQoL (69.6 ± 8.0 vs. 76.1 ± 11.1; p = 0.005) and higher depressive scores (p < 0.001). Conclusions: HRQoL and internalising symptoms in Romanian children with CCM worsen with increasing anatomical complexity and recent hospital utilisation. The severity tier outweighed functional markers as the main determinant of HRQoL, suggesting that psychosocial screening and support should be scaled to lesion complexity. Integrating the routine use of the Romanian-validated PedsQL, CDI, and SCARED-C questionnaire into cardiology follow-up may help identify vulnerable patients early and guide targeted interventions. Full article

Background/Objectives: Autism spectrum disorders (ASDs) are neurodevelopmental conditions with early onset of clinical manifestations. ASD etiology is highly heterogeneous, with genetic factors being strong determinants of the behavioral problems and neurodevelopmental deficits. Fragile X syndrome (FXS) (OMIM #300624), caused by the transcriptional silencing of the FMR1 gene, represents the most common monogenic cause of autism. Our study included 226 boys with a diagnosis of ASD, for a systematic screening of genetic and epigenetic defects in the FMR1 gene promoter in a Romanian pediatric cohort. Methods: The methods, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and triplet-primed PCR (TP-PCR)/melt curve analysis (MCA), were chosen for their ability to detect the methylation anomalies (the former) as well as repeat expansions in the FMR1 promoter (the latter). Results: Both methods used in our screening generated concordant results, detecting FMR1 full mutation in 4 out of 226 patients (~1.8%). This yield is similar to data obtained in larger studies. Three out of four boys presented the typical clinical features, in correlation with genetic findings. Conclusions: The combined use of MS-MLPA and TP-PCR/MCA-based assay was, in our experience, useful to fully describe the genetic defects responsible for FXS. A significant variability of clinical presentations was observed in our small group of children with FXS, from mild to severe intellectual disability and from atypical to characteristic dysmorphic features, as well as various behavioral problems. Full article

Background and Objectives: The transition from pediatric to adult-oriented healthcare is challenging and data on parental involvement and perception regarding the transition of children with chronic digestive diseases are scarce. Materials and Methods: Legal guardians of adolescents with chronic digestive diseases receiving care at a North-Eastern Romanian tertiary center and private offices were administered a 30-item survey. Results: There were 124 responders; 73.4% lived in rural areas; 81.5% were patients’ mothers. Positive correlations were found between parents’ perception of the child’s readiness for health-related decisions and appreciation of the children’s preparedness for transition (0.544; p = 0.000), between parents encouraging their children to maintain healthcare records and their perception of the children’s knowledge about their disease (0.67; p = 0.000), between parents’ fear of therapeutic breaks during transition and their perception of the need for transition training (0.704; p = 0.000), between fears for children’s impropriate health-related choices, fears of therapeutic breaks (0.573; p = 0.00) and parental perception that the adult physicians would be more patient-oriented and less family-centered (0.453; p < 0.000) and between parents’ trust in their children’s self-management skills and encouraging them to make decisions on their own (0.673; p < 0.000). Conclusions: The results of our study highlight the importance of addressing parental fears during special parent–children counseling sessions and promoting a child’s independence, chronic disease knowledge, records and alone consultations. Full article

Background/Objectives: Pathology is often perceived as a technical medical specialty that lacks direct contact with the patient. However, oncological histopathological diagnosis requires a high degree of moral and emotional responsibility. The objective of this study was to investigate how empathy is manifested toward the “invisible” patient, the emotional impact on pathology staff, and potential repercussions in their personal lives. Method: We conducted a descriptive, cross-sectional study with a quantitative component, using an anonymous 22-item questionnaire among Romanian pathologists and medical personnel working in pathology services. The questionnaire was focused on three research directions: professional empathy in the absence of direct patient contact, the emotional impact of oncologic diagnosis on medical personnel in pathology departments, and the carryover of emotions from professional to personal life. A total of 165 respondents were included in the study (physicians, technicians, registrars). Results: Most of the respondents consider that the absence of the patient’s direct contact does not cancel the empathy, this being felt in a cognitive and more natural way. Over 60% of the respondents see oncologic histopathological diagnosis as an emphatic medical act. Over 80% of the respondents experience a sense of emotional responsibility and 70% consider that professional training does not include adequate emotional support. There is a high interest in empathy and psychological support. The professional activity of a pathologist may influence sleep, dreams, and the perception on their own health status. Diagnosing pediatric or young patients is perceived as particularly emotionally challenging. Collegial support is moderate and discussion about professional stress is rare. Conclusions: Empathy is present and relevant in pathology, despite the absence of direct patient interaction. Oncological diagnostics has a significant emotional impact on pathology department personnel, with the need to acknowledge the emotional dimension of the profession and to integrate psychological support mechanisms into pathology practice. Full article

Background: The transition from pediatric to adult care in Duchenne Muscular Dystrophy (DMD) is challenging due to the disease’s complexity and the need for lifelong, comprehensive management. In Romania, ongoing efforts aim to enhance multidisciplinary collaboration, though systemic barriers, such as fragmented healthcare services, persist. Nonsense mutations, including those in exon 30 described here, are often associated with more severe disease progression. Methods: We present the case of a 17-year-old Romanian DMD patient with a nonsense mutation in exon 30 of the dystrophin gene. The patient received multidisciplinary pediatric care addressing his medical needs, including neuromuscular, respiratory, cardiac, and orthopedic management. Transition readiness was assessed using the Transition Readiness Assessment Questionnaire (TRAQ), and the patient’s perspective on the process was documented. Results: Care followed international standards, but the disease progressed predictably, with gradual loss of ambulation, respiratory decline, and cardiac complications. The TRAQ revealed strengths in communication with healthcare providers but moderate confidence in self-management tasks. From the patient’s perspective, fragmented adult services and difficulty accessing specialized neuromuscular support remain major obstacles, underscoring the importance of early, structured transition planning and patient-centered approaches. Conclusions: Transitioning to adult services requires strong communication between pediatric and adult teams and integration of specialized care. Tailored follow-up plans ensure continuity of care and effective disease management. This case reflects broader needs in similar healthcare contexts, highlighting the necessity of robust transition frameworks to respond to patient-specific challenges and ultimately support long-term quality of life. Full article

Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disorder. Diagnosis is typically clinical; genetic testing can contribute. Objectives: We are presenting a case series of type I OI in Romanian patients, showcasing the difficulties in diagnostic and case management in pediatric and adult cases. Methods: Nine patients were referred to the Regional Centre for Medical Genetics (CRGM), Dolj, Craiova, between 2021 and 2024. Genetic testing was conducted using the commercially available kit Illumina^® TruSight™ One. Results: Most of the patients showed blue sclerae, significant fracture history, and reduced stature. In our case series, the genetic variants for seven of the cases identified are primarily in the COL1A1 and COL1A2 genes. Our study reveals significant clinical variability among patients, even among those with identical genetic variants. This emphasizes the importance of tailored surgical and rehabilitation programs to improve the quality of life for these patients. Conclusions: Our study contributes to the genetic landscape of OI. Future research should aim to include larger, more diverse cohorts and incorporate advanced genetic analysis techniques to identify additional genetic variants and mechanisms involved in OI. Full article

Background/Objectives: A common reason for a pediatrician’s visit is acute tonsillopharyngitis (ATR), which is usually caused by viruses. A dietary supplement comprising Pelargonium sidoides extract, honey, propolis, and zinc was proposed as an effective adjuvant for the management of respiratory tract infections. The study aimed to determine the efficacy of this dietary supplement in conjunction with standard of care (SoC) compared to SoC alone, in a pediatric population affected by ATR. Methods: This open randomized study (registered on ClinicalTrials.gov: NCT 04899401) involved three Romanian sites specialized in pediatric care. The primary endpoints were changes in Tonsillitis Severity Score and the number of patients failing to respond (evaluating the use of ibuprofen or high-dose paracetamol as a rescue medication). One hundred and thirty children, distributed into two groups, were enrolled and treated for six days. Results: The results showed an overall better performance in terms of efficacy of dietary supplement + SoC, compared to SoC alone, with lower total Tonsillitis Severity Score ratings on day 6 (p = 0.002) and lower sub-scores related to erythema and throat pain on day 6. No adverse events were reported. Investigators found compliance to be optimal. Conclusions: The administration of the dietary supplement + SoC in pediatric patients with ATR was found to be safe and superior to the administration of SoC alone in terms of efficacy. The results confirmed that the tested dietary supplement is an optimum effective adjuvant in the treatment of respiratory tract infections and is suitable for the daily clinical practice of pediatricians. Full article

Cystic echinococcosis (CE) is a neglected tropical parasitic disease linked with significant social and economic burdens worldwide. The scientific community has minimal information on echinococcosis in Romanian people, and hospital medical records are the only sources that may be used to investigate its status. A 7-year retrospective clinical study on pediatric patients with CE from Southeast Romania was performed, and 39 children and adolescents were included, aged 2–15 years old. They were hospitalized with cystic echinococcosis in the Pediatric Department and Pediatric Surgery Department of Constanta County Clinical Emergency Hospital “St. Apostle Andrew” between 1 January 2017 and 1 October 2024. Twenty-nine (74.36%) pediatric patients came from rural zones, and 10 (25.64%) had urban residences. In total, 28 children (71.79%) had contact with four different animals (dogs, goats, pigs, and sheep); only four were from urban zones, and they had contact only with dogs. Data regarding the length of hospital stay, cyst location, and complications were collected and analyzed. According to the medical files, the diagnosis was established using imaging techniques and serological tests for CE. IgE and IgG reported appreciable variations in correlation with all parameters, and significant differences (p < 0.05) were recorded. IgE levels considerably increased in cases of no animal contact, pulmonary involvement, complications, surgical treatment, and multiple hospitalizations. Moderate IgE values were recorded in cases of urban residences, pig and sheep contact, and hepatic involvement. The IgG concentration considerably increased with sheep contact and moderately increased in cases of rural zones, hepatic involvement, complications, and surgical treatment. The results show that incidental discovery, symptoms, complications, multiple dissemination, pulmonary involvement, and dog and pig contact increase the hospitalization time. Extensive data analysis supports our results. Our findings highlight the complexity of managing E. granulosus infections in children and evidence the importance of a multidisciplinary approach, combining early diagnostic tools, tailored medical therapy, and careful surgical intervention when necessary. Full article

Background/Objectives: Dental age estimation plays a critical role in pediatric dentistry, orthodontics, and forensic medicine. The Nolla method, widely applied globally, has shown variable accuracy across different populations. This study aimed to evaluate the applicability and accuracy of the Nolla method in estimating the dental age of Romanian children and to identify potential discrepancies between dental and chronological ages. Methods: A retrospective analysis was conducted on 860 panoramic radiographs from pediatric patients aged 3–15.9 years in Oradea, Romania. The Nolla method was applied to estimate dental age, and the results were compared with chronological age. Statistical analyses, including Wilcoxon signed-rank and Mann–Whitney U tests, were performed to evaluate the accuracy and consistency of the Nolla method. Results: The study analyzed 860 panoramic radiographs (356 boys and 504 girls). The average chronological age was 9.95 ± 2.48 years, while the average dental age, as estimated using the Nolla method, was 8.43 ± 2.13 years. Dental age was consistently lower than chronological age, with a median difference of 1.5 years (IQR: 0.9–2.2 years). Among the 13 age groups, the highest representation was found in the 8–8.9-year (14.7%) and 9–9.9-year (13.3%) groups. Gender differences were statistically significant (p < 0.001); girls demonstrated a larger median discrepancy of 1.7 years (IQR: 1.1–2.3 years) compared to boys at 1.15 years (IQR: 0.6–1.8 years). Notably, discrepancies increased with age, peaking at 2.6 years in the 14–14.9-year group (4.7% of the sample). The youngest group (3–3.9 years) showed the smallest difference of 0.3 years. Significant differences between chronological and dental ages were observed in 87.5% of the sample. Conclusions: The Nolla method consistently underestimated dental age in Romanian children, with greater discrepancies in older age groups and among girls. These findings highlight the need for the population-specific calibration of the method to improve its accuracy in both clinical and forensic contexts. Full article

Background: The transition from the pediatric to the adult healthcare system is a challenging process involving adolescents, parents, and pediatric and adult specialists. For a successful approach for an organized transition program, we must assess the level of training of adolescents facing transition. Methods: We applied a clinic-based questionnaire measuring perceived self-management skills, adherence to health-related tasks, medication knowledge, and social adjustment to pediatric patients with chronic digestive diseases from North-East Romanian medical units, including a tertiary center and private practice offices. Results: There were 124 participants; 73.38% from rural areas, 26.62% from urban areas; 59.67% were females, and 40.33% were males; 91.93% attended school and 73.4% declared wanting to pursue university classes after turning 18. Adolescents from urban areas showed better medication managerial (p < 0.01) and tracking healthcare change skills. Significant correlations were found between medication and appointment making, tracking health dynamics, and communication skills. Other correlations were found between communication skills and medication knowledge, appointments management, and tracking healthcare dynamics. All the investigated domains were positively correlated with the overall scores, highlighting the potential impact of active targeted interventions during transition. Conclusions: We identified significant areas to address and potentially influence during an organized transition program such as communication skills and knowledge regarding the chronic disease and the followed medication. Full article

Off-label practice in pediatrics requires relentless engagement from all the health professionals involved. Community pharmacists are the last ones in the prescribing–dispensing chain; therefore, they have the key responsibility of verifying the correctness of a treatment. A cross-sectional study was conducted for assessing the awareness and views of Romanian community pharmacists, regarding off-label drugs in the pediatric population, through a 28-item questionnaire comprising five sections of different topics (general knowledge, frequency of prescribing and dispensing off-label medication, views, and attitudes). The sample size was 236 questionnaires with a response rate of 41.11%. A statistical analysis of the obtained data was performed with GraphPad Prism v.9. The results indicate that 55.1% of the community pharmacists have a good general knowledge and awareness regarding the off-label practice, although the legal frame is unclear. The responses highlight a high frequency of prescribing and request of medication for respiratory conditions (45.3%) and antibiotics (23.5%), with a concerning gap regarding the adverse events related to the off-label treatments (56.7%). A very small percentage of pharmacists (7.1%) contact a fellow healthcare professional when encountering an off-label prescription. In conclusion, in addition to the pharmacist’s conduct towards the best interest of the patient, there is a clear need to improve the doctor–pharmacist collaboration in order to make an off-label treatment successful. Full article

Antibiotic misuse in Romania has exacerbated the issue of antibiotic resistance, as patients often use antibiotics without proper medical consultation. This study aimed to assess the resistance of prevalent bacteria to different antibiotics. In this observational study conducted over six months, we analyzed 31 pediatric patients aged from 12 days to 13 years using the disk diffusion method. We identified 31 bacterial isolates, including 8 Gram-negative and 8 Gram-positive strains, with the most common being Pseudomonas aeruginosa, Escherichia coli, Streptococcus pneumoniae, methicillin-resistant Staphylococcus aureus, Streptococcus species, and Elizabethkingia meningoseptica. Our findings revealed that the most effective antibiotics were linezolid, ertapenem, and teicoplanin. In contrast, nearly all tested bacteria exhibited resistance to penicillin, followed by oxacillin and ampicillin. Resistance to cephalosporins varied with generation, showing higher resistance to lower-generation cephalosporins. The study highlights significant antibiotic resistance among common bacterial pathogens in Romanian pediatric patients, emphasizing the urgent need for controlled antibiotic use and alternative treatment strategies to combat this growing issue. Effective antibiotics such as linezolid and ertapenem offer potential solutions, whereas reliance on penicillin and lower-generation cephalosporins is increasingly futile. Full article

An adequate vitamin D level is essential for optimal bone mass formation during growth. The present study aimed to assess (i) the sex-specific, age-specific, and potential seasonal (spring, summer, winter) influences on the pediatric circulating levels of 25-hydroxyvitamin D (25(OH)D); (ii) determine the frequency of pediatric patients with vitamin D deficiency (VDD) or insufficiency (VDI); and (iii) quantify the association between age category, sex, and season types and susceptibility to VDD and VDI, respectively. Laboratory data were collected on serum 25(OH)D levels in children aged between 2 and 18 years (n = 1674) who underwent blood sampling following admission to a university pediatric hospital in Cluj-Napoca (Romania) between January and June 2023. VDD (<20 ng/mL) was observed in 27% of pediatric patients. Among toddlers and preschoolers (2–5 years), VDD was 11%, while it was 33% among school-aged children (6–11 years) and 39% among adolescents (12–18 years). We found a significant difference in the frequencies of vitamin D status between females and males (p = 0.006). Also, we found significant associations of vitamin D status with age categories (p < 0.0001) and seasonal variations (p = 0.03). After adjusting for season of blood collection, the multinomial logistic regression model showed that children aged 6–11 years old (adjusted OR = 7, 95% CI: (4.9, 9.4)), children aged 12–18 years old (adjusted OR = 14, 95% CI: (9.3, 19.6)), and females (adjusted OR = 1.43, 95% CI: (1.10, 1.86)) were significantly associated with higher odds of VDD. In conclusion, the study revealed a significant difference in the frequency of VDD and VDI among pediatric patients older than six years, with a significant difference according to sex and season, being more pronounced among girls and during the winter and spring seasons. Full article

Background: Otic involvement is common in children during acute infectious diseases, and is an important cause of morbidity and health service utilization. Methods: We performed a retrospective analysis of pediatric cases hospitalized in the largest infectious disease hospital in Romania between 2018 and 2023, with the aim of quantifying the incidence and impact of acute otitis (AO) according to pediatric age subgroups. Results: A total of 1118 cases diagnosed with AO were eligible and included in the analysis. Acute congestive otitis media was the most common subtype, identified in 53.3% of cases, followed by acute purulent otitis media (APOM) in 26.7% of children. The majority of AO cases (69.9%) were diagnosed in the pre-pandemic period (2018–2019), and infants (10.6%), toddlers (49.4%), and preschoolers (29.2%) were the most affected age groups. A viral infection associated with the AO episode was documented in 49.6% of cases. Influenza viruses were most commonly reported (20.5%), followed by SARS-CoV-2 (5.8%), and adenovirus (4.9%). A total of 38 cases of AO were identified in children with measles. In 15.9% of APOM cases, Streptococcus pneumoniae was isolated by culture from otic secretions. The duration of hospitalization was longer in children with APOM and acute otitis externa compared to the other subtypes of AO (p < 0.001). Conclusions: Our study highlights the importance of ENT (ear, nose, and throat) monitoring in children hospitalized for acute infectious diseases, as the majority of AO cases occur in the context of a viral infection. These findings emphasize the necessity for tailored assessment and intervention in suspected cases of AO, especially in young children under 5 years of age. Full article

Background: By 2025, road traffic injuries are projected to rank third in the global burden of disease, posing a significant challenge that affects health, social well-being, and economic aspects. According to data from the Romanian Police National Statistics Center, there have been an average of 342 traffic accidents per year involving pediatric patients over the past 10 years. Materials and Methods: A retrospective research study was conducted, encompassing 358 cases of road traffic accidents identified for the study, with data collected over a span of eight years, and with the aim of analyzing the types of injury and treatment methods in relation to age and sex, while also focusing on the duration of hospitalization and the occurrence of complications. Results: An oscillating trend is observed from 2015 to 2020, with its lowest value recorded in 2017 at around 6.8% and its peak in 2019 at 20.1%. Notably, post-pandemic (COVID-19), the cases underwent a substantial decline of approximately 60%. At least 78.7% of those who did not undergo orthopedic reduction required surgery, whereas among those who underwent orthopedic reduction, only 23.4% needed surgery. Regarding the frequency of complications 17.3% of the total cases experienced complications. Conclusions: According to our findings, age has a significant effect on the type of accident (p < 0.05). Complications occurred in 17.3% of patients, most commonly surgical (24 cases, 38.7%), orthopedic (17 cases, 27.4%), and neurological (15 cases, 24.2%). Full article