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1.
J Crit Care Med (Targu Mures) ; 10(1): 19-29, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-39108797

RESUMO

Introduction: This study is part of a European survey on delivery room practices endorsed by the Union of European Neonatal and Perinatal Societies (UENPS) and the Romanian Association of Neonatology (ANR). The aim of our study was to evaluate the current neonatal resuscitation practices in Romanian maternity hospitals and to compare the results between level III and level II centers. Material and Methods: The questionnaire was distributed through ANR by email link to heads of neonatal departments of 53 Romanian maternity hospitals with more than one thousand of births per year between October 2019 and September 2020, having 2018 as the reference year for data collection. Results: The overall response rate to the questionnaire was 62.26% (33/53), 83.33% (15/18) for level-III centers and 51.43% (18/35) for level-II centers. Of the responding centers, 18 (54,54%) were academic hospitals, 15 (83,33%) were level III and 3 (16,67%) level II hospitals. In 2018, responding centers reported 81.139 births representing 42.66% of all Romanian births (190.170). There were significant differences between level-III and level-II maternity hospitals regarding the number of births in 2018 (3028.73±1258.38 vs 1983.78±769.99; P=0.006), lowest GA of routinely assisted infants in delivery room (25.07±3.03 weeks vs 30.44±3.28, P<0.001), inborn infants with BW<1500 admitted to neonatal intensive care unit (NICU) in 2018 (66.86±39.14 g vs 22.87±31.50 g; P=0.002), and antenatal counseling of parents before the delivery of a very preterm infant or an infant with expected problems (60% vs 22.2%; P=0.027). There were no significant differences of thermal and umbilical cord management, positive pressure delivery, heart rate assessment between responding centers. Conclusion: The adherence to new guidelines was high among responding centers regarding thermal and umbilical cord management, initial FiO2, but aspects like antenatal counseling, EKG monitoring, laryngeal mask, and heated/humidified gases availability and administration, and simulation-based training require further implementation.

2.
Children (Basel) ; 11(7)2024 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-39062285

RESUMO

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.

3.
Int J Mol Sci ; 25(9)2024 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-38732138

RESUMO

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.


Assuntos
Proteína Mitocondrial Trifuncional/deficiência , Proteína Multifuncional do Peroxissomo-2 , Humanos , Proteína Multifuncional do Peroxissomo-2/deficiência , Proteína Multifuncional do Peroxissomo-2/genética , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/genética , Recém-Nascido , Lactente , Masculino , Feminino , Sequenciamento do Exoma , Mutação da Fase de Leitura , 17-Hidroxiesteroide Desidrogenases/deficiência , 17-Hidroxiesteroide Desidrogenases/genética , Região de Recursos Limitados , Miopatias Mitocondriais , Cardiomiopatias , Doenças do Sistema Nervoso , Rabdomiólise
4.
Healthcare (Basel) ; 11(24)2023 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-38132020

RESUMO

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.

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