Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.

In this pilot study, we aimed to evaluate the feasibility of whole genome sequencing (WGS) as a first-tier diagnostic test for infants hospitalized in neonatal intensive care units in the Brazilian healthcare system. The cohort presented here results from a joint collaboration between private and public hospitals in Brazil considering the initiative of a clinical laboratory to provide timely diagnosis for critically ill infants. We performed trio (proband and parents) WGS in 21 infants suspected of a genetic disease with an urgent need for diagnosis to guide medical care. Overall, the primary indication for genetic testing was dysmorphic syndromes (n = 14, 67%) followed by inborn errors of metabolism (n = 6, 29%) and skeletal dysplasias (n = 1, 5%). The diagnostic yield in our cohort was 57% (12/21) based on cases that received a definitive or likely definitive diagnostic result from WGS analysis. A total of 16 pathogenic/likely pathogenic variants and 10 variants of unknown significance were detected, and in most cases inherited from an unaffected parent. In addition, the reported variants were of different types, but mainly missense (58%) and associated with autosomal diseases (19/26); only three were associated with X-linked diseases, detected in hemizygosity in the proband an inherited from an unaffected mother. Notably, we identified 10 novel variants, absent from public genomic databases, in our cohort. Considering the entire diagnostic process, the average turnaround time from enrollment to medical report in our study was 53 days. Our findings demonstrate the remarkable utility of WGS as a diagnostic tool, elevating the potential of transformative impact since it outperforms conventional genetic tests. Here, we address the main challenges associated with implementing WGS in the medical care system in Brazil, as well as discuss the potential benefits and limitations of WGS as a diagnostic tool in the neonatal care setting.

Physical rehabilitation in Brazilian pediatric intensive care units: a multicenter point prevalence study.

OBJECTIVE: To determine the prevalence and factors associated with the physical rehabilitation of critically ill children in Brazilian pediatric intensive care units. METHODS: A 2-day, cross-sectional, multicenter point prevalence study comprising 27 pediatric intensive care units (out of 738) was conducted in Brazil in April and June 2019. This Brazilian study was part of a large multinational study called Prevalence of Acute Rehabilitation for Kids in the PICU (PARK-PICU). The primary outcome was the prevalence of mobility provided by physical therapy or occupational therapy. Clinical data on patient mobility, potential mobility safety events, and mobilization barriers were prospectively collected in patients admitted for ≥ 72 hours. RESULTS: Children under the age of 3 years comprised 68% of the patient population. The prevalence of therapist-provided mobility was 74%, or 277 out of the 375 patient-days. Out-of-bed mobility was most positively associated with family presence (adjusted odds ratios 3.31;95%CI 1.70 - 6.43) and most negatively associated with arterial lines (adjusted odds ratios 0.16; 95%CI 0.05 - 0.57). Barriers to mobilization were reported on 27% of patient-days, the most common being lack of physician order (n = 18). Potential safety events occurred in 3% of all mobilization events. CONCLUSION: Therapist-provided mobility in Brazilian pediatric intensive care units is frequent. Family presence was high and positively associated with out-of-bed mobility. The presence of physiotherapists 24 hours a day in Brazilian pediatric intensive care units may have a substantial impact on the mobilization of critically ill children.

Physical rehabilitation in Brazilian pediatric intensive care units: a multicenter point prevalence study / Reabilitação física em unidades de terapia intensiva pediátrica brasileiras: um estudo multicêntrico de prevalência pontual

ABSTRACT Objective: To determine the prevalence and factors associated with the physical rehabilitation of critically ill children in Brazilian pediatric intensive care units. Methods: A 2-day, cross-sectional, multicenter point prevalence study comprising 27 pediatric intensive care units (out of 738) was conducted in Brazil in April and June 2019. This Brazilian study was part of a large multinational study called Prevalence of Acute Rehabilitation for Kids in the PICU (PARK-PICU). The primary outcome was the prevalence of mobility provided by physical therapy or occupational therapy. Clinical data on patient mobility, potential mobility safety events, and mobilization barriers were prospectively collected in patients admitted for ≥ 72 hours. Results: Children under the age of 3 years comprised 68% of the patient population. The prevalence of therapist-provided mobility was 74%, or 277 out of the 375 patient-days. Out-of-bed mobility was most positively associated with family presence (adjusted odds ratios 3.31;95%CI 1.70 - 6.43) and most negatively associated with arterial lines (adjusted odds ratios 0.16; 95%CI 0.05 - 0.57). Barriers to mobilization were reported on 27% of patient-days, the most common being lack of physician order (n = 18). Potential safety events occurred in 3% of all mobilization events. Conclusion: Therapist-provided mobility in Brazilian pediatric intensive care units is frequent. Family presence was high and positively associated with out-of-bed mobility. The presence of physiotherapists 24 hours a day in Brazilian pediatric intensive care units may have a substantial impact on the mobilization of critically ill children.

RESUMO Objetivo: Determinar a prevalência e os fatores associados à reabilitação física de crianças em estado grave em unidades de terapia intensiva pediátrica brasileiras. Métodos: Realizou-se um estudo de prevalência pontual multicêntrico, transversal, de 2 dias, abrangendo 27 unidades de terapia intensiva pediátrica (do total de 738) no Brasil em abril e junho de 2019. Este estudo brasileiro fez parte de um grande estudo multinacional chamado Prevalence of Acute Rehabilitation for Kids in the PICU (PARK-PICU). O desfecho primário foi a prevalência de mobilidade proporcionada pela fisioterapia ou pela terapia ocupacional. Foram coletados prospectivamente dados clínicos sobre a mobilidade do paciente, possíveis eventos de segurança de mobilidade e barreiras de mobilização em pacientes admitidos por ≥ 72 horas. Resultados: As crianças com idade inferior a 3 anos eram 68% da população de pacientes. A prevalência de mobilidade fornecida pelo terapeuta foi de 74%, ou 277 dos 375 pacientes-dia. A mobilidade para fora do leito foi mais positivamente associada à presença de familiares (razão de chance ajustada de 3,31; IC95% 1,70 - 6,43) e mais negativamente associada às linhas arteriais (razão de chance ajustada de 0,16; IC95% 0,05 - 0,57). Foram relatadas barreiras à mobilização em 27% dos pacientes-dia, sendo a mais comum a falta de prescrição médica (n = 18). Registaram-se eventuais eventos de segurança em 3% de todos os eventos de mobilização. Conclusão: A mobilidade proporcionada pelo terapeuta nas unidades de terapia intensiva pediátrica brasileiras é frequente. A presença de familiares foi alta e positivamente associada à mobilidade para fora do leito. A presença de fisioterapeutas 24 horas por dia nas unidades de terapia intensiva pediátrica brasileiras pode exercer papel importante na mobilização de crianças em estado grave.

Prevalence and functional status of children with complex chronic conditions in Brazilian PICUs during the COVID-19 pandemic

Abstract Objective The proportion of children with complex chronic conditions is increasing in PICUs around the world. We determined the prevalence and functional status of children with complex chronic conditions in Brazilian PICUs during the COVID-19 pandemic. Methods The authors conducted a point prevalence cross-sectional study among fifteen Brazilian PICUs during the COVID-19 pandemic. The authors enrolled all children admitted to the participating PICUs with complex chronic conditions on three different days, four weeks apart, starting on April 4th, 2020. The authors recorded the patient's characteristics and functional status at admission and discharge days. Results During the 3 study days from March to June 2020, the authors enrolled 248 patients admitted to the 15 PICUs; 148 had CCC (prevalence of 59.7%). Patients had a median of 1 acute diagnosis and 2 chronic diagnoses. The use of resources/devices was extensive. The main mode of respiratory support was conventional mechanical ventilation. Most patients had a peripherally inserted central catheter (63.1%), followed by a central venous line (52.5%), and 33.3% had gastrostomy or/and tracheostomy. The functional status score was significantly better at discharge compared to admission day due to the respiratory status improvement. Conclusions The prevalence of children with CCC admitted to the Brazilian PICUs represented 59.7% of patients during the COVID-19 pandemic. The functional status of these children improved during hospitalization, mainly due to the respiratory component.

Prevalence and functional status of children with complex chronic conditions in Brazilian PICUs during the COVID-19 pandemic.

OBJECTIVE: The proportion of children with complex chronic conditions is increasing in PICUs around the world. We determined the prevalence and functional status of children with complex chronic conditions in Brazilian PICUs during the COVID-19 pandemic. METHODS: The authors conducted a point prevalence cross-sectional study among fifteen Brazilian PICUs during the COVID-19 pandemic. The authors enrolled all children admitted to the participating PICUs with complex chronic conditions on three different days, four weeks apart, starting on April 4th, 2020. The authors recorded the patient's characteristics and functional status at admission and discharge days. RESULTS: During the 3 study days from March to June 2020, the authors enrolled 248 patients admitted to the 15 PICUs; 148 had CCC (prevalence of 59.7%). Patients had a median of 1 acute diagnosis and 2 chronic diagnoses. The use of resources/devices was extensive. The main mode of respiratory support was conventional mechanical ventilation. Most patients had a peripherally inserted central catheter (63.1%), followed by a central venous line (52.5%), and 33.3% had gastrostomy or/and tracheostomy. The functional status score was significantly better at discharge compared to admission day due to the respiratory status improvement. CONCLUSIONS: The prevalence of children with CCC admitted to the Brazilian PICUs represented 59.7% of patients during the COVID-19 pandemic. The functional status of these children improved during hospitalization, mainly due to the respiratory component.

High-Flow Nasal Cannula versus Continuous Positive Airway Pressure in Critical Bronchiolitis: A Randomized Controlled Pilot.

We conducted a randomized controlled pilot study in infants with critical bronchiolitis ( n = 63) comparing high-flow nasal cannula (HFNC, n = 35) to continuous positive airway pressure (CPAP, n = 28). The primary outcome was treatment failure, defined as the need for bilevel positive pressure ventilation or endotracheal intubation. Treatment failure occurred in 10 patients (35.7%) in the CPAP group and 13 patients (37.1%) in the HFNC group ( p = 0.88). Pediatric intensive care unit length of stay was similar between the CPAP and HFNC groups (5 [4-7] days and 5 [4-8] days, p = 0.46, respectively). In this pilot study, treatment with HFNC resulted in a rate of treatment failure similar to CPAP.

Perioperative factors associated with prolonged intensive care unit and hospital length of stay after pediatric neurosurgery.

OBJECTIVES: This study aims to describe the association between different postoperative complications and the length of hospital stay among children undergoing neurosurgical procedures. METHODS: A retrospective cohort study was carried out between May 2004 and May 2009 in a tertiary community hospital. All postoperative complications following neurosurgical procedures and their association with the main outcomes [length of intensive care unit (ICU) and hospital stay] were investigated in a univariate and multivariate analysis. RESULTS: The medical records of 198 patients treated during the study period were reviewed. The most frequently performed surgeries were ventriculoperitoneal shunting (16.7%), correction of craniosynostosis (30%) and brain tumor resections (28.3%). Of the 198 patients eligible for this analysis, 79 (39.9%) suffered from at least one complication. The most frequent complications were fever (30.3%), hypothermia (16%), postextubation laryngitis (15.1%) and postoperative bleeding (7%). Factors independently associated with a longer pediatric ICU stay were fever (odds ratio 1.39, 95% confidence interval 1.1-3.2; p = 0.001), laryngitis (odds ratio 2.24, 95% confidence interval 1.8-5.2; p = 0.001), postoperative bleeding requiring reoperation (odds ratio 1.8, 95% confidence interval 1.4-3.9; p < 0.001) and infection (odds ratio 3.71, 95% confidence interval 1.8-12.4; p = 0.033). Fever (odds ratio 2.54, 95% confidence interval 2-7.4; p = 0.001) and infection (odds ratio 11.23, 95% confidence interval 4-22.4; p = 0.003) were related to the total length of the patient's hospital stay. CONCLUSIONS: In this study population, most elective neurosurgical procedures were not associated with significant complications, and morbidity and mortality were low. Some complications significantly influenced patients' outcomes and should be monitored for early diagnosis. This study may improve our understanding and identification of postoperative outcomes in pediatric neurosurgery.