D-bifunctional protein deficiency (D-BPD) is a rare, autosomal recessive peroxisomal disorder that affects the breakdown of long-chain fatty acids. Patients with D-BPD typically present during the neonatal period with hypotonia, seizures, and facial dysmorphism, followed by severe developmental delay and early mortality. While some patients have survived past two years of age, the detectable enzyme activity in these rare cases was likely a contributing factor. We report a D-BPD case and comment on challenges faced in diagnosis based on a narrative literature review. An overview of Romania’s first patient diagnosed with D-BPD is provided, including clinical presentation, imaging, biochemical, molecular data, and clinical course. Establishing a diagnosis can be challenging, as the clinical picture is often incomplete or similar to many other conditions. Our patient was diagnosed with type I D-BPD based on whole-exome sequencing (WES) results revealing a pathogenic frameshift variant of the HSD17B4 gene, c788del, p(Pro263GInfs*2), previously identified in another D-BPD patient. WES also identified a variant of the SUOX gene with unclear significance. We advocate for using molecular diagnosis in critically ill newborns and infants to improve care, reduce healthcare costs, and allow for familial counseling.

Background: Transportation of sick newborns is a major predictor of outcome. Prompt identification of the sickest newborns allows adequate intervention and outcome optimization. An optimal scoring system has not yet been identified. Aim: To identify a rapid, accurate, and easy-to-perform score predictive for neonatal mortality in outborn neonates. Material and methods: All neonates admitted by transfer in a level III regional neonatal unit between 1 January 2015 and 31 December 2021 were included. Infants with congenital critical abnormalities were excluded (N = 15). Gestational age (GA), birth weight (BW), Apgar score, place of birth, time between delivery and admission (AT), early onset sepsis, and sick neonatal score (SNS) were collected from medical records and tested for their association with mortality, including in subgroups (preterm vs. term infants); GA, BW, and AT were used to develop MSNS-AT score, to improve mortality prediction. The main outcome was all-cause mortality prediction. Univariable and multivariable analysis, including Cox regression, were performed, and odds ratio and hazard ratios were calculated were appropriate. Results: 418 infants were included; 217/403 infants were born prematurely (53.8%), and 20 died (4.96%). Compared with the survivors, the non-survivors had lower GA, BW, and SNS scores (p < 0.05); only the SNS scores remained lower in the subgroup analysis. Time to admission was associated with an increased mortality rate in the whole group and preterm infants (p < 0.05). In multiple Cox regression models, a cut-off value of MSNS-AT score ≤ 10 was more precise in predicting mortality as compared with SNS (AUC 0.735 vs. 0.775) in the entire group and in the preterm infants group (AUC 0.885 vs. 0.810). Conclusions: The new MSNS-AT score significantly improved mortality prediction at admission in the whole study group and in preterm infants as compared with the SNS score, suggesting that, besides GA and BW, AT may be decisive for the outcome of outborn preterm infants.

Candida spp. is rarely found in neonatal early-onset sepsis (EOS) etiology. However, candidemia is associated with increased mortality and morbidity, as in late-onset sepsis. Congenital candidiasis may present as a mucocutaneous infection or, more rarely, as a systemic infection in term and preterm infants. This paper presents case reports of two cases of congenital systemic candidiasis (CSC) caused by Candida albicans and a review of the data in the literature. An electronic search of PubMed, Scopus, and Google Scholar was performed to identify publications on congenital candidiasis. Both neonates were male, born vaginally, with risk factors for congenital candidiasis. One of the infants was born at term and presented with an almost generalized maculopapular rash at birth and congenital candidemia; parenteral fluconazole was used successfully. The other infant was born prematurely at 28 weeks of gestation; blood culture, gastric aspirate, and maternal vaginal cultures sampled at birth were positive for C. albicans. Liver and kidney involvement became apparent on the third day of life, while lung involvement was clinically evident on the fourth day. Prolonged parenteral fluconazole was administered due to multiple organ involvement and persistent candidemia. Our experience with the presented cases, similar to data in the literature, suggests that CSC may occur at any gestational age, with various clinical pictures, sometimes mimicking bacterial sepsis, and even in the absence of the rash. Careful anamnesis and a high index of suspicion are important for the prompt recognition and treatment of CSC, optimizing the short- and long-term outcomes. Further research should focus on CSC to improve its diagnosis.

Background: The COVID-19 pandemic disrupted pediatric healthcare systems globally, altering infection dynamics, hospital admissions, and antimicrobial practices. This study aimed to evaluate temporal shifts in patient demographics, clinical aspects, and microbial pathogen profiles in a tertiary pediatric hospital in Western Romania, spanning pre-pandemic (2019), pandemic (2021), and post-pandemic (2023) periods. Methods: A retrospective observational study was conducted at the “Louis Țurcanu” Emergency Children’s Hospital, Timișoara. Pediatric patients (<18 years) with laboratory-confirmed bacterial infections were included. Data on demographics, hospital wards, sample types, and pathogen distribution were analyzed using Χ² tests, incidence rate ratios (IRR), and non-parametric statistical methods. Results: A total of 3530 patients and 6885 samples were analyzed. Pediatric admissions declined by nearly 50% during the pandemic. The Outpatient and Emergency department observed a decrease in cases, while the ICU and surgical ward cases increased proportionally. Nasal and pharyngeal samples declined during the pandemic, while catheter, blood, and conjunctival samples rose. The study identified a significant shift in pathogen prevalence, with Escherichia coli and Staphylococcus aureus as the most frequent isolates. ICU patients showed increased rates of Pseudomonas aeruginosa, Candida albicans, and Klebsiella pneumoniae. Group A Streptococcus resurged post-pandemic after a decline in 2021. Conclusions: The pandemic significantly impacted pediatric infection profiles, hospital service utilization, and sample collection patterns. Strengthening infection surveillance, ensuring consistent reporting standards, and adapting pediatric care to future crises are critical for improving child health outcomes.

Background: Nasal high-frequency oscillatory ventilation (nHFOV) has emerged as an effective initial and rescue noninvasive respiratory support mode for preterm infants with respiratory distress syndrome (RDS); however, little is known about nHFOV use in Romanian neonatal intensive care units (NICUs). Objectives: We aimed to identify the usage extent and clinical application of nHFOV in Romania. Methods: A structured web-based questionnaire was designed to find the rate of nHFOV use and knowledge of this new method of noninvasive respiratory support in Romanian level III NICUs. Using multiple-choice, open-ended, and yes/no questions, we collected information on the NICU’s size, noninvasive respiratory support modes used, nHFOV use, indications, settings, nasal interfaces, secondary effects, and equipment used. Descriptive statistics and comparisons were performed using IBM SPSS Statistics 26.0. Results: A total of 21/23 (91.3%) leaders from level III NICUs (median [IQR] number of beds of 10 [10–17.5]) responded to the survey. The most frequently used noninvasive ventilation modes were CPAP mode on mechanical ventilators (76.2%), followed by NIPPV (76.2%); heated, humidified high-flow nasal cannula (HHHFNC) (61.9%); and nHFOV (11/21 units; 52.4%). A total of 5/11 units reported frequent nHFOV use (in two or more newborns/month) in both term and preterm infants. The main indications reported for nHFOV use were CPAP failure (90.9%), hypercapnia (81.8%), and bronchopulmonary dysplasia (72.7%). Face/nasal masks and short binasal prongs are the most commonly used nasal interfaces (90.9% and 72.7%, respectively). Air leaks at the interface level (90.9%), thick secretions (81.8%), and airway obstruction (63.6%) were the most frequently mentioned adverse effects of nHFOV. Only three of the NICUs had a written protocol for nHFOV use. Most units not yet using nHFOV cited lack of equipment, experience, training, or insufficient information and evidence for the clinical use and outcome of nHFOV use in neonates as the main reasons for not implementing this noninvasive respiratory mode. Conclusions: Our survey showed that nHFOV is already used in more than half of the Romanian level III NICUs to support term and preterm infants with respiratory distress despite a lack of consensus regarding indications and settings during nHFOV.

Nasal high-frequency oscillatory ventilation (nHFOV) has emerged as an effective initial and rescue noninvasive respiratory support mode for preterm infants with respiratory distress syndrome (RDS). Multiple noninvasive respiratory support modes are currently available in Romania, but little is known about nHFOV use in Romanian neonatal intensive care units (NICUs). We aimed to identify the usage extent and clinical application of nHFOV in Romania. A structured web-based questionnaire was designed to find the rate of nHFOV use and knowledge of this new method of noninvasive respiratory support in Romanian level III NICUs. The questionnaire was addressed to the leaders of all level III Romanian NICUs. Using multiple-choice, open-ended, and yes/no questions, we collected information on the NICU’s size, noninvasive respiratory support modes used, nHFOV use, indications, settings, nasal interfaces, secondary effects, and equipment used. Descriptive statistics and comparisons were performed using IBM SPSS Statistics 26.0. A total of 21/23 (91.3%) leaders from level III NICUs (median [IQR] number of beds of 10 [10-17.5]) responded to the survey. The most frequently used noninvasive ventilation modes were CPAP mode on mechanical ventilators (76.2%), followed by NIPPV (76.2%), heated, humidified high flow nasal cannula (HHHFNC) (61.9%), and nHFOV (11/21 units; 52.4%); 5/11 units reported frequent nHFOV use (in 2 or more newborns/month) in both term and preterm infants. The main indications reported for nHFOV use were CPAP failure (90.9%), hypercapnia (81.8%), and bronchopulmonary dysplasia (72.7%). 10/11 units reported setting a mean airway pressure (MAP) equal to the CPAP level plus 1-2 cmH₂O on rescue nHFOV after CPAP failure. Both dedicated equipment (45.5%) and hybrid ventilators (63.6%) were used for nHFOV delivery, with face/nasal masks and short binasal prongs being the most commonly used nasal interfaces (90.9% and 72.7%, respectively). Air leaks at the interface level (90.9%), thick secretions (81.8%), and airway obstruction (63.6%) were the most frequently mentioned adverse effects of nHFOV; none of the units mentioned pneumothorax as an adverse effect. Only 3 of the NICUs had a written protocol for nHFOV use. Initial, minimum, and maximum amplitude and initial and minimum MAP settings used were significantly higher with hybrid ventilators as compared to dedicated equipment (p<0.05). Most units not yet using nHFOV cited lack of equipment, experience, training, or insufficient information and evidence for the clinical use and outcome of nHFOV use in neonates as the main reasons for not implementing this noninvasive respiratory mode. Our survey showed that nHFOV is already used in more than half of the Romanian level III NICUs to support term and preterm infants with respiratory distress despite a lack of consensus regarding indications and settings during nHFOV. A need for training for nHFOV use was identified, and efforts are needed at the national level to develop courses and training sessions, including using simulation workshops, to offer more information on optimal nHFOV use in clinical practice.