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.

Foreign Body Accidents in a Pediatric Emergency Department

Abstract Introduction Foreign body accidents (FBAs) are frequent in children and can be severe, being a common cause of morbidity and mortality and a public health problem. As these accidents are multifactorial, their cause can only be determined by analyzing the clinical details and characteristics of the object. Knowing the associated mechanisms and factors is essential to determine a risk profile and have a preventive, therapeutic, and diagnostic purpose. Objective The present study aimed to describe the incidence of FBAs in otorhinolaryngology according to their anatomical location, focusing on the aerodigestive system. Methods This is a retrospective study performed by reviewing the medical records of 668 cases seen in the emergency department of a tertiary pediatric hospital in São Paulo, state of São Paulo, Brazil, between 2014 and 2017. Results Foreign bodies (FBs) were found in the digestive system (238/668), in the nasal cavities (206/668), in the ears (182/668), in the oropharynx (34/668), and in the respiratory system (8/668). A total of 91.77% of the patients were treated in the emergency room. The main age group affected was < 5 years old, with no difference between genders. The most frequent complications affected the digestive system and the most serious occurred in cases involving the respiratory system. Conclusion Multidisciplinary teams should be ready in the emergency room to provide adequate care in FBAs. Early diagnosis, FB removal in the emergency room or the surgical center and follow-up are essential. Developing prevention campaigns including a risk profile for certain products and/or materials, helping to ensure safety for consumers, is necessary. For this, a national database with compulsory notification containing relevant information on FBAs in the pediatric population should be created.

Foreign Body Accidents in a Pediatric Emergency Department.

Introduction Foreign body accidents (FBAs) are frequent in children and can be severe, being a common cause of morbidity and mortality and a public health problem. As these accidents are multifactorial, their cause can only be determined by analyzing the clinical details and characteristics of the object. Knowing the associated mechanisms and factors is essential to determine a risk profile and have a preventive, therapeutic, and diagnostic purpose. Objective The present study aimed to describe the incidence of FBAs in otorhinolaryngology according to their anatomical location, focusing on the aerodigestive system. Methods This is a retrospective study performed by reviewing the medical records of 668 cases seen in the emergency department of a tertiary pediatric hospital in São Paulo, state of São Paulo, Brazil, between 2014 and 2017. Results Foreign bodies (FBs) were found in the digestive system (238/668), in the nasal cavities (206/668), in the ears (182/668), in the oropharynx (34/668), and in the respiratory system (8/668). A total of 91.77% of the patients were treated in the emergency room. The main age group affected was < 5 years old, with no difference between genders. The most frequent complications affected the digestive system and the most serious occurred in cases involving the respiratory system. Conclusion Multidisciplinary teams should be ready in the emergency room to provide adequate care in FBAs. Early diagnosis, FB removal in the emergency room or the surgical center and follow-up are essential. Developing prevention campaigns including a risk profile for certain products and/or materials, helping to ensure safety for consumers, is necessary. For this, a national database with compulsory notification containing relevant information on FBAs in the pediatric population should be created.

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.

CLINICAL MANIFESTATIONS OF CHILDREN AND ADOLESCENTS WITH COVID-19: REPORT OF THE FIRST 115 CASES FROM SABARÁ HOSPITAL INFANTIL.

OBJECTIVE: To describe the clinical manifestations and severity of children and adolescents affected by COVID-19 treated at Sabará Hospital Infantil. METHODS: This is a cross-sectional, retrospective, and observational study. All cases of COVID-19 confirmed by RT-qPCR of patients seen at the hospital (emergency room, first-aid room, and ICU) were analyzed. The severity of the cases was classified according to the Chinese Consensus. RESULTS: Among the 115 children included, a predominance of boys (57%) was verified, and the median age was two years. A total of 22 children were hospitalized, 12 in the ICU. Of the total, 26% had comorbidities with a predominance of asthma (13%). Fever, cough, and nasal discharge were the most frequent symptoms. Respiratory symptoms were reported by 58% of children and gastrointestinal symptoms, by 34%. Three children were asymptomatic, 81 (70%) had upper airway symptoms, 15 (13%) had mild pneumonia, and 16 (14%) had severe pneumonia. Hospitalized children were younger than non-hospitalized children (7 months vs. 36 months). In hospitalized patients, a higher frequency of irritability, dyspnea, drowsiness, respiratory distress, low oxygen saturation, and hepatomegaly was observed. Chest radiography was performed in 69 children with 45% of abnormal exams. No child required mechanical ventilation and there were no deaths. CONCLUSIONS: Most of children and adolescents affected by COVID-19 had mild upper airway symptoms. Clinical manifestations of COVID-19 were more severe among younger children who exhibited gastrointestinal and respiratory symptoms more frequently.

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.

Microbial investigation of biofilms recovered from endotracheal tubes using sonication in intensive care unit pediatric patients

Abstract Objectives To compare cultured microorganisms identified on endotracheal tubes biofilms through sonication technique with traditional tracheal aspirate collected at extubation of pediatric intensive care unit patients. Methods Demographic and epidemiological data were analyzed to identify factors possibly related with the microbiological profile of the two collection methods. Associations between categorical and continuous variables were analyzed using the chi-square or Fisher's exact test, or Student's t test. p-Value <0.05 were considered significant. Results Thirty endotracheal tubes and tracheal aspirates samples from 27 subjects were analyzed. Only one patient presented the clinical diagnosis of ventilator-associated pneumonia. Overall, 50% of bacteria were Gram-negative bacilli, followed by Gram-positive bacteria in 37%, and fungi in 10%. No statistically significant difference on the distribution of Gram-positive or Gram-negative bacteria (p = 0.996), and fungi (p = 0.985) were observed between the collection methods. Pseudomonas spp. was the most frequent microorganism identified (23.8%), followed by Streptococcus spp. (18.5%), Acinetobacter spp. (15.9%), coagulase-negative staphylococci (11.2%), and Klebsiella spp. (8.6%). Concordant results between methods amounted to 83.3%. Pseudomonas aeruginosa and Acinetobacter baumannii showed carbapenem resistance in 50% and 43.7% of the isolates, respectively. In general, cultures after endotracheal tubes sonication (non-centrifuged sonication fluid and centrifuged sonication fluid) yielded bacteria with higher rates of antimicrobial resistance compared to tracheal aspirates cultures. Additionally, in 12 subjects (40%), we observed discrepancies regarding microbiologic profiles of cultures performed using the collection methods. Conclusions Our study demonstrated that sonication technique can be applied to ET biofilms to identify microorganisms attached to their surface with a great variety of species identified. However, we did not find significant differences in comparison with the traditional tracheal aspirate culture approach.

Microbial investigation of biofilms recovered from endotracheal tubes using sonication in intensive care unit pediatric patients.

OBJECTIVES: To compare cultured microorganisms identified on endotracheal tubes biofilms through sonication technique with traditional tracheal aspirate collected at extubation of pediatric intensive care unit patients. METHODS: Demographic and epidemiological data were analyzed to identify factors possibly related with the microbiological profile of the two collection methods. Associations between categorical and continuous variables were analyzed using the chi-square or Fisher's exact test, or Student's t test. p-Value <0.05 were considered significant. RESULTS: Thirty endotracheal tubes and tracheal aspirates samples from 27 subjects were analyzed. Only one patient presented the clinical diagnosis of ventilator-associated pneumonia. Overall, 50% of bacteria were Gram-negative bacilli, followed by Gram-positive bacteria in 37%, and fungi in 10%. No statistically significant difference on the distribution of Gram-positive or Gram-negative bacteria (p=0.996), and fungi (p=0.985) were observed between the collection methods. Pseudomonas spp. was the most frequent microorganism identified (23.8%), followed by Streptococcus spp. (18.5%), Acinetobacter spp. (15.9%), coagulase-negative staphylococci (11.2%), and Klebsiella spp. (8.6%). Concordant results between methods amounted to 83.3%. Pseudomonas aeruginosa and Acinetobacter baumannii showed carbapenem resistance in 50% and 43.7% of the isolates, respectively. In general, cultures after endotracheal tubes sonication (non-centrifuged sonication fluid and centrifuged sonication fluid) yielded bacteria with higher rates of antimicrobial resistance compared to tracheal aspirates cultures. Additionally, in 12 subjects (40%), we observed discrepancies regarding microbiologic profiles of cultures performed using the collection methods. CONCLUSIONS: Our study demonstrated that sonication technique can be applied to ET biofilms to identify microorganisms attached to their surface with a great variety of species identified. However, we did not find significant differences in comparison with the traditional tracheal aspirate culture approach.

L-epinephrine and dexamethasone in postextubation airway obstruction: a prospective, randomized, double-blind placebo-controlled study.

PURPOSE: This prospective randomized double-blind placebo-controlled study paired trial groups to investigate the effect of intravenous dexamethasone and nebulized L-epinephrine on the clinical development of postextubation laryngeal edema. MATERIAL AND METHODS: Sixty-four patients aged 1 day to 12 years who needed intubation from August/1997 to February/1999 in the Pediatric Intensive Care Unit (PICU) of Santa Casa de São Paulo School of Medicine were paired according to age, height and weight, anthropometric z-scores, duration of tracheal intubation and number of intubation attempts. Patients received intravenous dexamethasone (0.2mg/kg every 6h), with or without nebulized L-epinephrine (0.5mg/kg every 4h) in the study groups; in the control groups, they received nebulized or intravenous isotonic saline solution, or both. DEPENDENT VARIABLES: frequency and severity of the laryngeal edema (according to Westley Clinical Scoring System), as well as the time interval (min) between extubation and the first postextubation laryngeal edema scores. Postextubation respiratory rate and transcutaneous oxygen saturation were employed as indicators of the clinical conditions for extubation. RESULTS: Laryngeal edema frequencies did not change according to treatments, chi(2) (3, N=64)=0.58, p>0.05, and the highest scores were not reached in the 24h after extubation, chi(ranks)(2) (3, N=16)=1.03, p>0.05. CONCLUSIONS: Dexamethasone and l-epinephrine did not reduce the clinical progression of airway obstruction due to laryngeal edema in the early postextubation period.

Infecção no período pós-operatório de cirurgia cardíaca / Infection in postoperative cardiac surgery

Apesar do emprego profilático de antibióticos, as taxas de infecção no período pós-operatório de cirurgia cardíaca variam de 10,71 a 13,30, envolvendo agentes que diferem de serviço a serviço. O presente estudo teve como objetivo investigar a taxa de infecção no período pós-operatório de cirurgia cardíaca e os tipos de agentes encontrados em nosso serviço, no período de junho de 1994 a janeiro de 1996, permitindo uma descrição dos dados encontrados em neste serviço e a comparação com os outros centros. Embora este serviço não atenda apenas pacientes submetidos à cirurgia cardíaca, a taxa de infecção encontrada não difere daquelas esperadas

Meningite por Streptococcus pneumoniae de evoluçäo clínica desfavorável a terapeutica com cefalosporinas / Streptococcus pneumoniae meningitis with bad clinical evoluation treated with cephalosporins

Relatamos o caso de um lactente com um mês de idade portador de miningite por Streptococcus pneumoniae de evoluçäo clínica desfavorável, sendo o agente sensível in vitro ao ceftriaxone, porém resistente in vivo. Comentamos a antibioticoterapia baseada nos testes de sensibilidade e sugerimos a associaçäo de antibióticos de largo espectro desde o início do tratamento, objetivando evitar sequelas neurológicas graves