Modern Paediatric Emergency Department: Potential Improvements in Light of New Evidence.

The increasing attendance of paediatric emergency departments has become a serious health issue. To reduce an elevated burden of medical errors, inevitably caused by a high level of stress exerted on emergency physicians, we propose potential areas for improvement in regular paediatric emergency departments. In an effort to guarantee the demanded quality of care to all incoming patients, the workflow in paediatric emergency departments should be sufficiently optimised. The key component remains to implement one of the validated paediatric triage systems upon the patient's arrival at the emergency department and fast-tracking patients with a low level of risk according to the triage system. To ensure the patient's safety, emergency physicians should follow issued guidelines. Cognitive aids, such as well-designed checklists, posters or flow charts, generally improve physicians' adherence to guidelines and should be available in every paediatric emergency department. To sharpen diagnostic accuracy, the use of ultrasound in a paediatric emergency department, according to ultrasound protocols, should be targeted to answer specific clinical questions. Combining all mentioned improvements might reduce the number of errors linked to overcrowding. The review serves not only as a blueprint for modernising paediatric emergency departments but also as a bin of useful literature which can be suitable in the paediatric emergency field.

Feasibility of Mouth-to-Mouth Ventilation through FPP2 Respirator in BLS Training during COVID-19 Pandemic (MOVERESP Study): Simulation-Based Study.

BACKGROUND: Due to the COVID-19 pandemic, Basic Life Support (BLS) training has been limited to compression-only or bag-mask ventilation. The most breathable nanofiber respirators carry the technical possibility for inflation of the mannequin. The aim of this study was to assess the efficacy of mouth-to-mouth breathing through a FFP2 respirator during BLS. METHODS: In the cross-over simulation-based study, the medical students performed BLS using a breathable nanofiber respirator for 2 min on three mannequins. The quantitative and qualitative efficacy of mouth-to-mouth ventilation through the respirator in BLS training was analyzed. The primary aim was the effectivity of mouth-to-mouth ventilation through a breathable respirator. The secondary aims were mean pause, longest pause, success in achieving the optimal breath volume, technique of ventilation, and incidence of adverse events. RESULTS: In 104 students, effective breath was reached in 951 of 981 (96.9%) attempts in Adult BLS mannequin (Prestan), 822 of 906 (90.7%) in Resusci Anne, and 1777 of 1857 (95.7%) in Resusci Baby. In Resusci Anne and Resusci Baby, 28.9%/15.9% of visible chest rises were evaluated as low-, 33.0%/44.0% as optimal-, and 28.8%/35.8% as high-volume breaths. CONCLUSIONS: Mouth-to-mouth ventilation through a breathable respirator had an effectivity greater than 90%.

Central Venous Catheter Cannulation in Pediatric Anesthesia and Intensive Care: A Prospective Observational Trial.

Currently, ultrasound-guided central venous catheter (CVC) insertion is recommended in pediatric patients. However, the clinical practice may vary. The primary aim of this study was the overall success rate and the first attempt success rate in ultrasound-guided CVC insertion versus anatomic-based CVC insertion in pediatric patients. The secondary aim was the incidence of associated complications and the procedural time. The physician could freely choose the cannulation method and venous approach. Data were collected for 10 months. Overall, 179 patients were assessed for eligibility and 107 patients were included. In almost half of the patients (48.6%), the percutaneous puncture was performed by real-time ultrasound navigation. In 51.4% of the patients, the puncture was performed by the landmark method. The overall success rate was 100% (n = 52) in the real-time ultrasound navigation group, 96.4% (n = 53) in the landmark insertion group, (p = 0.496). The first percutaneous puncture success rate was 57.7% (n = 30) in the real-time ultrasound navigation group and 45.5% (n = 25) in the landmark insertion group, (p = 0.460). The data show a higher overall success rate and the first success rate in the US-guided CVC insertion group, but the difference was not statistically significant.

Airway Management in Pediatric Patients: Cuff-Solved Problem?

Traditionally, uncuffed tubes were used in pediatric patients under 8 years in pursuit of reducing the risk of postextubation stridor. Although computed tomography and magnetic resonance imaging studies confirmed that the subglottic area remains the narrowest part of pediatric airway, the use of uncuffed tubes failed to reduce the risk of subglottic swelling. Properly used cuffed tubes (correct size and correct cuff management) are currently recommended as the first option in emergency, anesthesiology and intensive care in all pediatric patients. Clinical practice particularly in the intensive care area remains variable. This review aims to analyze the current recommendation for airway management in children in emergency, anesthesiology and intensive care settings.

Nutrition in Pediatric Intensive Care: A Narrative Review.

Nutrition support in pediatric intensive care is an integral part of a complex approach to treating critically ill children. Smaller energy reserves with higher metabolic demands (a higher basal metabolism rate) compared to adults makes children more vulnerable to starvation. The nutrition supportive therapy should be initiated immediately after intensive care admission and initial vital sign stabilization. In absence of contraindications (unresolving/decompensated shock, gut ischemia, critical gut stenosis, etc.), the preferred type of enteral nutrition is oral or via a gastric tube. In the acute phase of critical illness, due to gluconeogenesis and muscle breakdown with proteolysis, the need for high protein delivery should be emphasized. After patient condition stabilization, the acute phase with predominant catabolism converts to the anabolic phase and intensive rehabilitation, where high energy demands are the keystone of a positive outcome.

Evolution of European Resuscitation and End-of-Life Practices from 2015 to 2019: A Survey-Based Comparative Evaluation.

BACKGROUND: In concordance with the results of large, observational studies, a 2015 European survey suggested variation in resuscitation/end-of-life practices and emergency care organization across 31 countries. The current survey-based study aimed to comparatively assess the evolution of practices from 2015 to 2019, especially in countries with "low" (i.e., average or lower) 2015 questionnaire domain scores. METHODS: The 2015 questionnaire with additional consensus-based questions was used. The 2019 questionnaire covered practices/decisions related to end-of-life care (domain A); determinants of access to resuscitation/post-resuscitation care (domain B); diagnosis of death/organ donation (domain C); and emergency care organization (domain D). Responses from 25 countries were analyzed. Positive or negative responses were graded by 1 or 0, respectively. Domain scores were calculated by summation of practice-specific response grades. RESULTS: Domain A and B scores for 2015 and 2019 were similar. Domain C score decreased by 1 point [95% confidence interval (CI): 1-3; p = 0.02]. Domain D score increased by 2.6 points (95% CI: 0.2-5.0; p = 0.035); this improvement was driven by countries with "low" 2015 domain D scores. In countries with "low" 2015 domain A scores, domain A score increased by 5.5 points (95% CI: 0.4-10.6; p = 0.047). CONCLUSIONS: In 2019, improvements in emergency care organization and an increasing frequency of end-of-life practices were observed primarily in countries with previously "low" scores in the corresponding domains of the 2015 questionnaire.

[Ethics of resuscitation and end of life decisions]. / Ethik der Reanimation und Entscheidungen am Lebensende: Leitlinien des European Resuscitation Council 2021.

These European Resuscitation Council Ethics guidelines provide evidence-based recommendations for the ethical, routine practice of resuscitation and end-of-life care of adults and children. The guideline primarily focus on major ethical practice interventions (i.e. advance directives, advance care planning, and shared decision making), decision making regarding resuscitation, education, and research. These areas are tightly related to the application of the principles of bioethics in the practice of resuscitation and end-of-life care.

[Paediatric Life Support]. / Lebensrettende Maßnahmen bei Kindern (Paediatric Life Support, PLS): Leitlinien des European Resuscitation Council 2021.

The European Resuscitation Council (ERC) Paediatric Life Support (PLS) guidelines are based on the 2020 International Consensus on Cardiopulmonary Resuscitation Science with Treatment Recommendations of the International Liaison Committee on Resuscitation (ILCOR). This section provides guidelines on the management of critically ill or injured infants, children and adolescents before, during and after respiratory/cardiac arrest.

European Resuscitation Council Guidelines 2021: Paediatric Life Support.

These European Resuscitation Council Paediatric Life Support (PLS) guidelines, are based on the 2020 International Consensus on Cardiopulmonary Resuscitation Science with Treatment Recommendations. This section provides guidelines on the management of critically ill infants and children, before, during and after cardiac arrest.

European Resuscitation Council Guidelines 2021: Ethics of resuscitation and end of life decisions.

These European Resuscitation Council Ethics guidelines provide evidence-based recommendations for the ethical, routine practice of resuscitation and end-of-life care of adults and children. The guideline primarily focus on major ethical practice interventions (i.e. advance directives, advance care planning, and shared decision making), decision making regarding resuscitation, education, and research. These areas are tightly related to the application of the principles of bioethics in the practice of resuscitation and end-of-life care.

Suport vital pediàtric bàsic I avançat. Recomanacions per a la covid-19 del Consell Europeu de Ressuscitació (ERC) / Soporte vital pediátrico básico y avanzado. Recomendaciones para la Covid-19 del Consejo Europeo de Reanimación (ERC) / Basic and advanced pediatric life support. European Resuscitation Council (ERC) Covid-19 guidelines

Suport vital pediàtric bàsic I avançat. Recomanacions per a la covid-19 del Consell Europeu de Ressuscitació (ERC) El grup de redacció de guies pediàtriques de l'ERC ha fet una adaptació «temporal» de les seves recomanacions a l'època de la covid-19. Aquestes s'han d'interpretar dins del context de cada sistema sanitari, considerant el grau de propagació de la malaltia I la seva evolució dins de cada regió, així com l'impacte general sobre els recursos disponibles. Donada l'evidència limitada, les pautes següents són principalment el resultat del consens d'experts. Es fa referència a la protecció de personal sanitari I no sanitari, al reconeixement de l'infant greument malalt, al maneig de la via aèria I la respiració de l'infant críticament malalt amb possible covid-19, al reconeixement de l'aturada cardíaca en infants I l'algoritme de suport vital bàsic, a l'obstrucció de la via aèria per cos estrany, al suport vital avançat I a l'ètica de la reanimació en infants durant la pandèmia de covid-19

El grupo de redacción de guías pediátricas de ERC ha realizado una adaptación «temporal» de sus recomendaciones en la época de la covid-19. Estas deben interpretarse dentro del contexto de cada sistema sanitario, considerando el grado de propagación de la enfermedad y su evolución dentro de esa región, así como el impacto general sobre los recursos disponibles. Dada la evidencia limitada, las siguientes pautas son principalmente el resultado del consenso de expertos. Se hace referencia a la protección de personal sanitario y no sanitario, al reconocimiento del niño gravemente enfermo, al manejo de la vía aérea y la respiración del niño críticamente enfermo con posible covid-19, al reconocimiento de la parada cardíaca en niños y al algoritmo de soporte vital básico, a la obstrucción de la vía aérea por cuerpo extraño, al soporte vital avanzado y a la ética de la reanimación en niños durante la pandemia de covid-19

The ERC paediatric guideline writing group has "temporarily" adapted their recommendations to the context of covid-19. These should be interpreted within the context of each healthcare system, considering the degree of covid-19 spread and evolving disease profile within that region, and the overall impact on available resources. Given the limited evidence, the following guidelines are mainly the result of expert consensus. Reference is made to the protection of bystanders and healthcare professionals, to the recognition of the critically ill child, to the airway and breathing management of a critically child with potential covid-19, to the recognition of cardiac arrest in children and basic life support (BLS) algorithm, foreign body airway obstruction, advanced life support (ALS), and the ethics of resuscitation in children during the covid-19 pandemic

An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.

BACKGROUND: Primary ciliary dyskinesia (PCD) is a multigenic autosomal recessive condition affecting respiratory tract and other organs where ciliary motility is required. The extent of its genetic heterogeneity is remarkable. The aim of the study was to develop a cost-effective pipeline for genetic diagnostics using a combination of Sanger and next generation sequencing (NGS). MATERIALS AND METHODS: Data and samples of 33 families with 38 affected subjects with PCD diagnosed in childhood were collected over the territory of the Czech Republic. A panel of 18 PCD causative or candidate genes was implemented into an Illumina TruSeq Custom Amplicon NGS assay, and three ancestral mutations in SPAG1 were screened by conventional Sanger sequencing, which was also used for the confirmation of the NGS results and for the analysis of familial segregation. RESULTS: The causative gene was DNAH5 in 11/33 (33%) probands, SPAG1 in 8/33 (24%), and DNAI1, CCDC40, LRRC6 in one family each. If the high proportion of subjects with bi-allelic ancestral mutations in SPAG1 is corroborated in other Caucasian populations, a simple Sanger sequencing test for these three mutations may serve as an effective pre-screening step, being followed by an NGS panel for other, much larger, PCD genes. CONCLUSIONS: We present a combination of Sanger sequencing with an NGS panel for known and candidate PCD genes, implemented in a moderate-size national collection of patients. This strategy has proven to be cost-effective, rapid and reliable, and was able to detect the causative gene in two thirds of our PCD patients.

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility, and laterality defects, often caused by dual loss of the inner dynein arms (IDAs) and outer dynein arms (ODAs), which power cilia and flagella beating. Using whole-exome and candidate-gene Sanger resequencing in PCD-affected families afflicted with combined IDA and ODA defects, we found that 6/38 (16%) carried biallelic mutations in the conserved zinc-finger gene BLU (ZMYND10). ZMYND10 mutations conferred dynein-arm loss seen at the ultrastructural and immunofluorescence level and complete cilia immotility, except in hypomorphic p.Val16Gly (c.47T>G) homozygote individuals, whose cilia retained a stiff and slowed beat. In mice, Zmynd10 mRNA is restricted to regions containing motile cilia. In a Drosophila model of PCD, Zmynd10 is exclusively expressed in cells with motile cilia: chordotonal sensory neurons and sperm. In these cells, P-element-mediated gene silencing caused IDA and ODA defects, proprioception deficits, and sterility due to immotile sperm. Drosophila Zmynd10 with an equivalent c.47T>G (p.Val16Gly) missense change rescued mutant male sterility less than the wild-type did. Tagged Drosophila ZMYND10 is localized primarily to the cytoplasm, and human ZMYND10 interacts with LRRC6, another cytoplasmically localized protein altered in PCD. Using a fly model of PCD, we conclude that ZMYND10 is a cytoplasmic protein required for IDA and ODA assembly and that its variants cause ciliary dysmotility and PCD with laterality defects.

Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) leads to recurrent/chronic respiratory infections, resulting in chronic inflammation and potentially in chronic pulmonary disease with bronchiectasis. We analyzed longitudinal data on body length/height and body mass index (BMI) for 29 children and young adults with PCD aging 1.5-24 years (median, 14.5) who had been diagnosed at the age of 0.5-17 years (median, 8). Of these, 10 carried pathogenic mutations in either DNAH5 or DNAI1. In children with PCD, body length/height progressively decreased from +0.40 ± 0.24 SDS (the 1st birthday), +0.16 ± 0.23 SDS (3 years old), and -0.13 ± 0.21 SDS (5 years old) to -0.54 ± 0.19 SDS (7 years old; P = 0.01 versus 0), -0.67 ± 0.21 SDS (9 years old; P = 0.005 versus 0), -0.52 ± 0.24 SDS (11 years old; P = 0.04 versus 0), and -0.53 ± 0.23 SDS (13 years old; P = 0.03 versus 0). These results reflect low growth rates during the childhood growth period. Thereafter, heights stabilized up to the age of 17 years. The growth deterioration was not dependent on sex or disease severity but was more pronounced in DNAH5 or DNAI1 mutation carriers. BMI did not differ from population standards, which suggests that nutritional deficits are not the cause of growth delay. We conclude that PCD leads to chronic deprivation with significant growth deterioration during childhood.

Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare genetically heterogenous condition. Mutations in DNAH5 or DNAI1 genes can be found in about a third of the patients with PCD. Increased occurrence of mutations was described in several exons of these long genes. The objective of the study was to test the sensitivity of sequencing of selected 13 exons (as compared to costly sequencing of all 100 exons of the two genes), and to determine the prevalence of the DNAH5 or DNAI1 mutations in the Czech PCD database. METHODS: The Czech national PCD database has identified 31 pediatric patients, diagnosed based on clinical findings and tests on the ciliated epithelium. Twenty-seven patients from 24 families agreed on genetic testing. In the first step, direct sequencing of selected 13 exons (9 of DNAH5 and 4 of DNAI1) was performed, and then we compared its effectiveness in detecting at least one mutation with results of sequencing all 100 exons of the two genes. RESULTS: The sequencing of all exons identified compound heterozygosity for PCD mutations in nine patients from eight families (DNAH5 in eight and DNAI1 in one patient), and heterozygozity for a DNAH5 mutation of uncertain functional significance in one additional patient. The first step of selected exon sequencing detected a mutation in five out of these eight families, its actual sensitivity being 62.5%, with a high predictive value. The phenotypic and clinical characteristics of all the paediatric patients with PCD are shown. CONCLUSIONS: Selected exon sequencing detects at least one mutated allele in over a half of our patients who have PCD due to DNAH5 or DNAI1 mutations. To lower the costs of the genetic testing, targeted step-wise genetic testing may be a reasonable approach to detect mutations in PCD patients, especially if their phenotype is taken into account.

ciliaFA: a research tool for automated, high-throughput measurement of ciliary beat frequency using freely available software.

BACKGROUND: Analysis of ciliary function for assessment of patients suspected of primary ciliary dyskinesia (PCD) and for research studies of respiratory and ependymal cilia requires assessment of both ciliary beat pattern and beat frequency. While direct measurement of beat frequency from high-speed video recordings is the most accurate and reproducible technique it is extremely time consuming. The aim of this study was to develop a freely available automated method of ciliary beat frequency analysis from digital video (AVI) files that runs on open-source software (ImageJ) coupled to Microsoft Excel, and to validate this by comparison to the direct measuring high-speed video recordings of respiratory and ependymal cilia. These models allowed comparison to cilia beating between 3 and 52 Hz. METHODS: Digital video files of motile ciliated ependymal (frequency range 34 to 52 Hz) and respiratory epithelial cells (frequency 3 to 18 Hz) were captured using a high-speed digital video recorder. To cover the range above between 18 and 37 Hz the frequency of ependymal cilia were slowed by the addition of the pneumococcal toxin pneumolysin. Measurements made directly by timing a given number of individual ciliary beat cycles were compared with those obtained using the automated ciliaFA system. RESULTS: The overall mean difference (± SD) between the ciliaFA and direct measurement high-speed digital imaging methods was -0.05 ± 1.25 Hz, the correlation coefficient was shown to be 0.991 and the Bland-Altman limits of agreement were from -1.99 to 1.49 Hz for respiratory and from -2.55 to 3.25 Hz for ependymal cilia. CONCLUSIONS: A plugin for ImageJ was developed that extracts pixel intensities and performs fast Fourier transformation (FFT) using Microsoft Excel. The ciliaFA software allowed automated, high throughput measurement of respiratory and ependymal ciliary beat frequency (range 3 to 52 Hz) and avoids operator error due to selection bias. We have included free access to the ciliaFA plugin and installation instructions in Additional file 1 accompanying this manuscript that other researchers may use.