Search Results (564)

Background: Nemaline myopathy is a rare congenital neuromuscular disease associated with progressive weakness and frequent respiratory complications. In emergency situations, families often serve as the first and only responders. The aim of this study is to explore how parents in Spain care for children with nemaline myopathy during emergency situations, focusing on the clinical responses performed at home and the organizational challenges encountered when interacting with healthcare systems. Methods: A qualitative phenomenological study was conducted with 17 parents from 10 families belonging to the Asociación Yo Nemalínica. Semi-structured interviews were performed via video calls, transcribed verbatim, and analyzed using Giorgi’s descriptive method and ATLAS.ti software (version 24). Methodological rigor was ensured through triangulation, reflexivity, and member validation. Results: Four themes were identified. First, families were described as acting under extreme pressure and in isolation during acute home emergencies, often providing cardiopulmonary resuscitation and respiratory support without professional backup. Second, families managed ambiguous signs of deterioration using clinical judgment and home monitoring tools, often preventing fatal outcomes. Third, parents frequently assumed guiding roles in emergency departments due to a lack of clinician familiarity with the disease, leading to delays or errors. Finally, the transition to the Pediatric Intensive Care Unit was marked by emotional distress and rapid decision-making, with families often participating in critical choices about invasive procedures. These findings underscore the complex, multidisciplinary nature of caregiving. Conclusions: Parents play an active clinical role during emergencies and episodes of deterioration. Their lived experience should be formally integrated into emergency protocols and the continuity of care strategies to improve safety and outcomes. Full article

This review explores the potential of magistral formulas (MFs) as a viable option to meet the needs of neonates, given the lack of adequate therapies for this vulnerable group. The scientific literature on medicines available for neonates is limited. The physiological differences between neonates and adults make it difficult to formulate these medicines. In addition, there are a variety of difficulties in conducting research on neonates: few clinical trials are performed, and there is frequent use of unauthorized medicines. Pharmacokinetics in neonates was investigated in comparison to adults, and different aspects of the absorption, distribution, metabolism, and excretion were observed. One of the main problems is the different pharmacokinetics between the two populations. It is necessary to promote and allow research related to pediatric drug design, approve a specific authorization for use in age-appropriate dosage forms, and improve the quality and availability of information on drugs. This study focused on the MFs typically used for pediatrics, specifically for neonates, analyzing the pharmaceutical forms currently available and the presence of indications and dosage recommendations of the European Medicines Agency. Medications were classified according to therapeutic group, as antihypertensives, corticosteroids, and antiepileptics. The use of off-label medicines remains high in neonatal intensive care units and in primary healthcare, besides in the preparation of MFs by pharmacists. The shortage of medicines specifically designed and approved for neonates is a serious problem for society. Neonates continue to be treated, on numerous occasions, with off-label medicines. Studies and research should be expanded in this vulnerable population group. Full article

Background: Necroptosis, a regulated form of inflammatory cell death, is increasingly recognized as a key driver of sepsis and critical illness. The balance between necroptosis and apoptosis may influence immune responses and outcomes in ICU patients. Objective: To evaluate necroptosis- and apoptosis-related protein expression in critically ill pediatric and adult patients with sepsis/septic shock, trauma/SIRS, or cardiac conditions, and assess their association with clinical outcomes. Methods: In this prospective, observational study, 88 patients admitted to a tertiary ICU were categorized into four groups: sepsis/septic shock, trauma/SIRS, cardiac disease, and healthy controls. Serum levels of RIPK1, RIPK3, MLKL, A20, caspase-8, IL-1β, and IL-18 were measured within 24 h of admission using ELISA. Biomarkers were analyzed by disease group, age, and severity indices. Results: Patients with sepsis—both adults and children—exhibited significantly elevated levels of RIPK1, IL-1β, and IL-18 (p < 0.001) and reduced levels of caspase-8 (p = 0.015), indicating activation of the necroptosis pathway. A20 was significantly upregulated (p < 0.001) and independently associated with lactate levels. RIPK1, IL-1β, and IL-18 were positively correlated with ICU length of stay and illness severity, whereas caspase-8 showed an inverse correlation. ROC analysis demonstrated strong predictive performance for sepsis/septic shock using RIPK1 (AUC = 0.81), IL-18 (AUC = 0.71), and A20 (AUC = 0.71); conversely, caspase-8 was inversely associated with sepsis (AUC = 0.32). Conclusions: Necroptosis appears to play a central role in the pathophysiology of sepsis across age groups. Elevated levels of RIPK1, IL-1β, IL-18, and A20 may serve as biomarkers of disease severity, while reduced caspase-8 supports a shift away from apoptosis toward necroptotic cell death. These findings highlight the potential of necroptosis-related pathways as targets for risk stratification and therapeutic intervention in critically ill patients of all ages. Full article

Bronchopulmonary dysplasia (BPD) remains a significant complication of preterm birth, characterized by impaired alveolar and vascular development, chronic lung inflammation, and long-term respiratory morbidity. Corticosteroids, both systemic and inhaled, have been widely investigated as potential therapeutic agents due to their anti-inflammatory properties and their emerging role in modulating oxidative stress. This narrative review explores the current evidence regarding the use of inhaled and systemic corticosteroids in the prevention and management of BPD, analyzing their efficacy, safety profiles, and long-term outcomes. While systemic corticosteroids, particularly dexamethasone, have demonstrated benefits in reducing ventilator dependence and lung inflammation, concerns regarding adverse neurodevelopmental effects have limited their routine use. Inhaled steroids have been proposed as a safer alternative, but their role in altering the disease trajectory remains controversial. A better understanding of the optimal timing, dosage, and patient selection is essential to maximize benefits while minimizing risks. Future research should focus on optimizing dosing strategies and identifying subgroups of preterm infants who may derive the greatest benefit from corticosteroid therapy. Full article

Pediatric delirium (PD) is an acute neuropsychiatric syndrome marked by fluctuating disturbances in attention and cognition, frequently observed in pediatric intensive care units (PICUs) and associated with increased morbidity, mortality, and long-term cognitive impairment. Despite its clinical significance, PD remains underdiagnosed due to challenges inherent in assessing consciousness and cognition in children at varying developmental stages. Several bedside tools have been developed and validated in recent years, including the Cornell Assessment of Pediatric Delirium (CAPD), PreSchool Confusion Assessment Method for the Intensive Care Unit (psCAM-ICU); Pediatric Confusion Assessment Method for the Intensive Care Unit (pCAM-ICU), and Sophia Observation Withdrawal Symptoms—Pediatric Delirium Scale (SOS-PD), enhancing early recognition and management of PD in critically ill children. This narrative review explores the historical background, epidemiology, risk factors, pathophysiology, clinical subtypes, diagnostic tools, and current prevention and treatment strategies for PD from newborns to 21 years old. The screening tools available and the integration of non-pharmacological interventions, such as environmental modifications and family-centered care, as well as cautious and selective pharmacological management, are emphasized in this review. Early identification and targeted interventions are essential to mitigate the adverse outcomes associated with PD. Full article

Background: Kidney transplantation is the treatment of choice for pediatric patients with end-stage kidney disease. However, transplantation in children weighing < 15 kg remains challenging due to limited donor availability and higher surgical and medical risks. We report our 35-year single-center experience in this population, focusing on perioperative and long-term outcomes. Methods: We retrospectively analyzed kidney transplants performed from 1987 to 2023 in children weighing < 15 kg. Data on demographics, donor type, complications, immunosuppression, and outcomes at 2, 5, and 10 years (including survival, graft function, rejection, infections, and urological issues) were collected. Outcomes were compared between deceased and living donors and between recipients weighing < 10 kg and ≥10 kg. Results: Ninety-six transplants were included (mean age 3.3 years; mean weight 11.1 kg), 80 from deceased and 16 from living donors. Most patients (69.8%) had been treated with peritoneal dialysis. Median follow-up was 120 months. Patient survival was 95.8%; graft survival was 78.1%. Eight grafts (8.3%) were lost to renal vein thrombosis, all in deceased-donor recipients (p = 0.60). Preserved renal function (eGFR > 60 mL/min/1.73 m²) declined from 80.4% at 2 years to 66.0% at 5 years and 18.0% at 10 years. Graft survival at 10 years was significantly lower in children < 10 kg vs. ≥10 kg (49.6% vs. 80.3%, p = 0.003). CAKUT was associated with higher urological complication rates (p = 0.017). No significant differences emerged between living and deceased donor groups. Conclusions: Transplantation in children < 15 kg is feasible with good outcomes, but those <10 kg present lower graft survival at 10 years. Multidisciplinary assessment and center experience are key to optimizing results. Full article

Background: Neonates, particularly those born prematurely or with low birth weight, face an elevated risk of developing Acute Kidney Injury (AKI) due to various factors. Perinatal and maternal considerations, often linked to preterm delivery, contribute to this heightened risk. Methods: A retrospective study of neonates admitted to the intensive care unit at a single Israeli Hospital who were diagnosed as having AKI. The study includes follow-up data on these children. Results: During the study period, 971 neonates were admitted to the Pediatric Intensive Care Unit (PICU), and 47 cases had a documented diagnosis of AKI. Thirty-four of them had available long-term data and were included in this analysis. A total of 13 out of 26 subjects with available blood pressure measurements had high blood pressure for their age percentile compatible with the definition of hypertension, and 6 out of 34 (17.6%) had proteinuria. Conclusions: These findings underscore the importance of increased clinical awareness and structured long-term follow-up for neonates who experience AKI. Full article

Background: Pharmacogenomics (PGx), a pivotal branch of personalized medicine, studies how genetic variations influence drug responses. Despite its transformative potential, the adoption of PGx in Indian clinical practice faces challenges, such as the lack of population-specific data, evidence-based guidelines, and complexities in interpreting genomic reports. Comprehensive datasets tailored to Indian patients are essential to facilitate the integration of PGx into clinical settings. Methodology: The study collates pharmacogenomic data from multiple sources, including essential drugs listed by the World Health Organization (WHO), drugs used in neonatal intensive care units (NICUs), minimum sets of alleles recommended by the Association for Molecular Pathology (AMP), and catalogs the allele frequencies from the IndiGenomes database to address gaps in actionable PGx for the Indian population. Curated datasets were used to identify pharmacogenomic variants relevant to clinical practice. Results: Overall, 24 prime genes are essential for the outcomes of 57 drugs. In adults, 18 genes influence the metabolism of 44 drugs whereas, in pediatric populations, genotypes of 18 genes significantly impact the metabolism of 18 drugs. Two over-the-counter drugs with actionable PGx variants were identified: ibuprofen and omeprazole. These findings emphasize the clinical relevance of PGx for commonly used drugs, underscoring the need for population-specific data. Conclusions: As the data of several Indian human genome projects become available, an overarching need exists to establish and regulate the dynamic actionable PGx in Indian clinical practice. This will facilitate the integration of pharmacogenomic data into healthcare, enabling effective and personalized drug therapies. Full article

Per- and polyfluoroalkyl substances (PFASs) are synthetic chemicals extensively used in various industries due to their unique physicochemical properties. Their persistence in the environment and potential for bioaccumulation have raised significant health concerns. This review aims to elucidate the sources, exposure pathways, toxicological effects, and regulatory measures related to PFASs, with a particular focus on pediatric populations and medical applications. A comprehensive narrative review was conducted using PubMed, Scopus, and Web of Science to identify peer-reviewed literature published between 2000 and 2025. The search focused on PFAS use in healthcare, environmental contamination, exposure pathways, health effects, and regulatory actions. Relevant studies, reports, and policy documents were screened and thematically synthesized by the authors to evaluate clinical and environmental risks, particularly in pediatric populations. PFAS exposure is linked to various adverse health effects, including immunotoxicity, endocrine disruption, metabolic disorders, and carcinogenicity. Children are particularly vulnerable due to developmental susceptibilities and exposure through medical devices and environmental sources. Regulatory measures are evolving, but gaps remain, especially concerning medical device applications. There is an urgent need for comprehensive strategies to monitor and mitigate PFAS exposure, particularly in vulnerable populations. Enhanced regulatory frameworks, safer alternatives in medical devices, and public health interventions are essential to address the challenges posed by PFASs. Full article

We introduce a novel system for automatic assessment of newborn and preterm infant behavior—including activity levels, behavioral states, and sleep–wake cycles—in clinical settings for streamlining care and minimizing healthcare professionals’ workload. While vital signs are routinely monitored, the previously mentioned assessments require labor-intensive direct observation. Research so far has already introduced non- and minimally invasive solutions. However, we developed a system that automatizes the preceding evaluations in a non-contact way using deep learning algorithms. In this work, we provide a Gated Recurrent Unit (GRU)-stack-based solution that works on a dynamic feature set generated by computer vision methods from the cameras’ video feed and patient monitor to classify the activity phases of infants adapted from the NIDCAP (Newborn Individualized Developmental Care Program) scale. We also show how pulse rate variability (PRV) data could improve the performance of the classification. The network was trained and evaluated on our own database of 108 h collected at the Neonatal Intensive Care Unit, Dept. of Neonatology of Pediatrics, Semmelweis University, Budapest, Hungary. Full article

Objectives: In the neonatal period, 25% of cases with critical congenital heart disease (CCHD) require surgical or interventional palliative and corrective procedures. Prenatal diagnosis and timely intervention can positively impact neonatal mortality and morbidity. This study evaluated the effects of perinatal follow-up on the management of CCHD. Methods: The study was conducted on term neonates diagnosed with CCHD, who were monitored in the neonatology and pediatric cardiac intensive care unit between 1 January 2023 and 1 January 2024. The cases were categorized into CCHD with prenatal follow-up (Group I), CCHD born without follow-up at our hospital (Group II), and CCHD accepted from external centers (Group III). Neonatal mortality and morbidity outcomes of these cases that underwent surgical or interventional procedures were statistically evaluated. Results: During the study period, there were 280 neonatal cases (50% male). Among these cases, 30% were in Group I (n = 84), 20% in Group II (n = 56), and 50% in Group III (n = 140). The cesarean section rate was higher in Group I compared to the other groups (80% vs. 52% vs. 45%), and the preoperative lactate levels were lower (0.9 vs. 1.7 vs. 2.1). The anatomical diagnoses, ventricular physiology, operation time, and interventional procedure time were similar. After interventional or surgical procedures, morbidity (22% vs. 25% vs. 36%) and mortality rates (6% vs. 9% vs. 18%) were lower in Group I and Group II compared to Group III. Conclusions: All infants diagnosed with CCHD before birth should be delivered in a tertiary heart center, which positively contributes to neonatal mortality and morbidity. More effort is needed to improve prenatal screening programs. Full article

Background/Objectives: Adaptation to extrauterine life is challenging for preterm newborns. Environmental stimuli, such as noise, can lead to adverse health outcomes, causing instability of vital parameters and impairment of neurodevelopment. The American Academy of Pediatrics recommends a maximum environmental noise level of 45 decibels (dB) or less in the NICU. The study’s primary aim was to describe environmental noise in a neonatal intensive care unit and to analyze potential associations between noise and vital parameters of preterm newborns, including heart rate, respiratory rate, and oxygen saturation levels. Methods: A pilot observational feasibility study was conducted in a level III NICU. Sound levels and vital parameters were recorded over four hours for each preterm newborn. Confounding variables were controlled. Data were analyzed using descriptive statistics, Kendall’s τ-b, and logistic regression analysis. Ethical approval and parental consent were obtained. Results: The average environmental noise level was consistently above 45 dB. Six patients were enrolled, and 22 recordings (ranging in length from 1 to 4 h) were performed. Data adjusted for confounding variables show a statistically significant Kendall’s correlation between heart rate and decibels (τ-b = 0.89, p = 0.003, n = 520), suggesting a monotonous crescent tendency between these two variables, although the relationship is not strong. The logistic regression model indicates that the odds ratio (OR) for decibels related to tachycardia is 1.066, meaning that for each 1 dB increase, the probability of tachycardia rises by 6.6% (p < 0.001). Conversely, the OR for respiratory rate is 0.959, suggesting that for each unit increase in respiratory rate, the probability of tachycardia decreases by approximately 4.1% (p < 0.001). Conclusions: The study reveals that the mean environmental noise level in the NICU consistently exceeds the recommended safety level. Decibels are one of the significant variables contributing to the likelihood of tachycardia, and an increase in decibels has a significant effect on this, but it is not the only one. Further analysis of a larger sample is needed. Full article

Artificial intelligence (AI) and machine learning (ML) are rapidly transforming clinical decision support systems (CDSSs) in intensive care units (ICUs), where vast amounts of real-time data present both an opportunity and a challenge for timely clinical decision-making. Here, we trace the evolution of machine intelligence in critical care. This technology has been applied across key ICU domains such as early warning systems, sepsis management, mechanical ventilation, and diagnostic support. We highlight a transition from rule-based systems to more sophisticated machine learning approaches, including emerging frontier models. While these tools demonstrate strong potential to improve predictive performance and workflow efficiency, their implementation remains constrained by concerns around transparency, workflow integration, bias, and regulatory challenges. Ensuring the safe, effective, and ethical use of AI in intensive care will depend on validated, human-centered systems supported by transdisciplinary collaboration, technological literacy, prospective evaluation, and continuous monitoring. Full article

Background/Objectives: In hospital settings, the wide variability of acute and complex chronic conditions—among both adult and pediatric patients—requires advanced approaches to detect early signs of clinical deterioration and the risk of transfer to the intensive care unit (ICU). Nursing diagnoses (NDs), standardized representations of patient responses to actual or potential health problems, reflect nursing complexity. However, most studies have focused on the total number of NDs rather than the individual role each diagnosis may play in relation to outcomes such as ICU transfer. This study aimed to identify and rank the specific NDs most strongly associated with ICU transfers in hospitalized adult and pediatric patients. Methods: A retrospective, monocentric observational study was conducted using electronic health records from an Italian tertiary hospital. The dataset included 42,735 patients (40,649 adults and 2086 pediatric), and sociodemographic, clinical, and nursing data were collected. A random forest model was applied to assess the predictive relevance (i.e., variable importance) of individual NDs in relation to ICU transfers. Results: Among adult patients, the NDs most strongly associated with ICU transfer were Physical mobility impairment, Injury risk, Skin integrity impairment risk, Acute pain, and Fall risk. In the pediatric population, Acute pain, Injury risk, Sleep pattern disturbance, Skin integrity impairment risk, and Airway clearance impairment emerged as the NDs most frequently linked to ICU transfer. The models showed good performance and generalizability, with stable out-of-bag and validation errors across iterations. Conclusions: A prioritized ranking of NDs appears to be associated with ICU transfers, suggesting their potential utility as early warning indicators of clinical deterioration. Patients presenting with high-risk diagnostic profiles should be prioritized for enhanced clinical surveillance and proactive intervention, as they may represent vulnerable populations. Full article