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OBJECTIVES: To describe clinical characteristics of young children presenting to the emergency department (ED) for early recurrent wheeze, and determine factors associated with subsequent persistent wheeze and risk for early childhood asthma. METHODS: Retrospective cohort study of Medicaid-enrolled children 0-3 years old with an index ED visit for wheeze (e.g. bronchiolitis, reactive airway disease) from 2009 to 2013, and at least one prior documented episode of wheeze at an ED or primary care visit. The primary outcome was persistent wheeze between 4 and 6 years of age. Demographics and clinical characteristics were collected from the index ED visit. Logistic regression was used to estimate the association between potential risk factors and subsequent persistent wheeze. RESULTS: During the study period, 41,710 children presented to the ED for recurrent wheeze. Mean age was 1.3 years; 59% were male, 42% Black, and 6% Hispanic. At index ED visits, the most common diagnosis was acute bronchiolitis (40%); 77% of children received an oral corticosteroid prescription. Between 4 and 6 years of age, 11,708 (28%) children had persistent wheeze. A greater number of wheezing episodes was associated with an increased odds of ED treatment with asthma medications. Subsequent persistent wheeze was associated with male sex, Black race, atopy, prescription for bronchodilators or corticosteroids, and greater number of visits for wheeze. CONCLUSIONS: Young children with persistent wheeze are at risk for childhood asthma. Thus, identification of risk factors associated with persistent wheeze in young children with recurrent wheeze might aid in early detection of asthma and initiation of preventative therapies.
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Asma , Servicio de Urgencia en Hospital , Medicaid , Recurrencia , Ruidos Respiratorios , Humanos , Masculino , Asma/epidemiología , Asma/tratamiento farmacológico , Femenino , Preescolar , Estudios Retrospectivos , Medicaid/estadística & datos numéricos , Estados Unidos/epidemiología , Lactante , Servicio de Urgencia en Hospital/estadística & datos numéricos , Factores de Riesgo , Niño , Recién Nacido , Corticoesteroides/uso terapéutico , Corticoesteroides/administración & dosificación , Bronquiolitis/epidemiologíaRESUMEN
OBJECTIVES: To identify independent predictors of and derive a risk score for acute hematogenous osteomyelitis (AHO) in children. METHODS: We conducted a retrospective matched case-control study of children >90 days to <18 years of age undergoing evaluation for a suspected musculoskeletal (MSK) infection from 2017 to 2019 at 23 pediatric emergency departments (EDs) affiliated with the Pediatric Emergency Medicine Collaborative Research Committee. Cases were identified by diagnosis codes and confirmed by chart review to meet accepted diagnostic criteria for AHO. Controls included patients who underwent laboratory and imaging tests to evaluate for a suspected MSK infection and received an alternate final diagnosis. RESULTS: We identified 1135 cases of AHO matched to 2270 controls. Multivariable logistic regression identified 10 clinical and laboratory factors independently associated with AHO. We derived a 4-point risk score for AHO using (1) duration of illness >3 days, (2) history of fever or highest ED temperature ≥38°C, (3) C-reactive protein >2.0 mg/dL, and (4) erythrocyte sedimentation rate >25 mm per hour (area under the curve: 0.892, 95% confidence interval [CI]: 0.881 to 0.901). Choosing to pursue definitive diagnostics for AHO when 3 or more factors are present maximizes diagnostic accuracy at 84% (95% CI: 82% to 85%), whereas children with 0 factors present are highly unlikely to have AHO (sensitivity: 0.99, 95% CI: 0.98 to 1.00). CONCLUSIONS: We identified 10 predictors for AHO in children undergoing evaluation for a suspected MSK infection in the pediatric ED and derived a novel 4-point risk score to guide clinical decision-making.
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Osteomielitis , Niño , Humanos , Estudios Retrospectivos , Estudios de Casos y Controles , Osteomielitis/diagnóstico , Enfermedad Aguda , Factores de Riesgo , FiebreRESUMEN
OBJECTIVES: Procalcitonin (PCT) is a relatively novel biomarker that may be superior to C-reactive protein (CRP) in identifying bacterial infection. PCT use in pediatric hospitals is relatively unknown. We aimed to evaluate PCT and CRP use, describe PCT testing variability across children's hospitals, and compare temporal rates of PCT and CRP testing for patients admitted with pneumonia, sepsis, or fever in young infants. METHODS: In this multicenter cohort study, we identified children ≤18 years old hospitalized from 2014-2018 with pneumonia, sepsis, or fever in infants <2 months by using the Pediatric Health Information System. To determine use, we evaluated the proportion of encounters with PCT or CRP testing from 2017-2018. We generated heat maps to describe PCT use across hospitals. We also compared PCT and CRP rates over time from 2014 to 2018. RESULTS: From 2017-2018, PCT testing occurred in 3988 of 34c231 (12%) hospitalizations. Febrile infants had the highest PCT testing proportion (18%), followed by sepsis (15%) and pneumonia (9%). There was across-hospital variability in PCT testing, particularly for febrile infants. Over time, the odds of PCT testing increased at a significantly greater rate than that of CRP. CONCLUSIONS: Despite limited guideline recommendations for PCT testing during the study period, PCT use increased over time with across-hospital variability. For pneumonia and sepsis, given the importance of high-value care, we need to understand the impact of PCT on patient outcomes. With recent guidelines recommending PCT in the evaluation of febrile infants, we identified baseline testing behaviors for future studies on guideline impact.
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Background With advances in the treatment of congenital heart disease (CHD), more women with CHD survive childhood to reach reproductive age. The objective of this study was to evaluate the maternal and neonatal outcomes of pregnancies among women with CHD in the modern era. Methods and Results We conducted a meta-analysis of peer-reviewed literature published January 2007 through June 2019. Studies were included if they reported on maternal or fetal mortality and provided data by CHD lesion. Meta-analysis was performed using random effect regression modeling using Comprehensive Meta-Analysis (v3). CHD lesions were categorized as mild, moderate, and severe to allow for pooling of data across studies. Of 2200 articles returned by our search, 32 met inclusion criteria for this study. Overall, the rate of neonatal mortality was 1%, 3.1%, and 3.5% in mild, moderate, and severe lesions, respectively. There were too few maternal deaths in any group to pool data. The rates of maternal and neonatal morbidity among women with CHD increase with severity of lesion. Specifically, rates of maternal arrhythmia and heart failure, cesarean section, preterm birth, and small for gestational age neonate are all markedly increased as severity of maternal CHD increases. Conclusions In the modern era, pregnancy in women with CHD typically has a successful outcome in both mother and child. However, as maternal CHD severity increases, so too does the risk of numerous morbidities and neonatal mortality. These findings may help in counseling women with CHD who plan to become pregnant, especially women with severe lesions.
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Cardiopatías Congénitas/mortalidad , Complicaciones Cardiovasculares del Embarazo/mortalidad , Femenino , Edad Gestacional , Humanos , Lactante , Mortalidad Infantil/tendencias , Recién Nacido , Mortalidad Materna/tendencias , Embarazo , Resultado del EmbarazoRESUMEN
BACKGROUND: Options to increase the ease of testing for SARS-CoV-2 infection and immune response are needed. Self-collection of diagnostic specimens at home offers an avenue to allow people to test for SARS-CoV-2 infection or immune response without traveling to a clinic or laboratory. Before this study, survey respondents indicated willingness to self-collect specimens for COVID-related tests, but hypothetical willingness can differ from post-collection acceptability after participants collect specimens. METHODS: 153 US adults were enrolled in a study of the willingness and feasibility of patients to self-collect three diagnostic specimens (saliva, oropharyngeal swab (OPS) and dried blood spot (DBS) card) while observed by a clinician through a telehealth session. After the specimens were collected, 148 participants participated in a survey about the acceptability of the collection, packing and shipping process, and their confidence in the samples collected for COVID-related laboratory testing. RESULTS: A large majority of participants (>84%) reported that collecting, packing and shipping of saliva, OPS, and DBS specimens were acceptable. Nearly nine in 10 (87%) reported being confident or very confident that the specimens they collected were sufficient for laboratory analysis.There were no differences in acceptability for any specimen type, packing and shipping, or confidence in samples, by gender, age, race/ethnicity, or educational level. CONCLUSIONS: Self-collection of specimens for SARS-CoV-2 testing, and preparing and shipping specimens for analysis, were acceptable in a diverse group of US adults. Further refinement of materials and instructions to support self-collection of saliva, OPS and DBS specimens for COVID-related testing is needed.
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Betacoronavirus/aislamiento & purificación , Infecciones por Coronavirus/diagnóstico , Orofaringe/virología , Cooperación del Paciente , Neumonía Viral/diagnóstico , Saliva/virología , Manejo de Especímenes/métodos , Adulto , Betacoronavirus/genética , COVID-19 , Infecciones por Coronavirus/virología , Pruebas con Sangre Seca/métodos , Escolaridad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pandemias , Cooperación del Paciente/etnología , Neumonía Viral/virología , SARS-CoV-2 , Autocuidado , Encuestas y Cuestionarios , TelemedicinaRESUMEN
BACKGROUND: Options to increase the ease of testing for SARS-CoV-2 infection and immune response are needed. Self-collection of diagnostic specimens at home offers an avenue to allow people to test for SARS-CoV-2 infection or immune response without traveling to a clinic or laboratory. Before this study, survey respondents indicated willingness to self-collect specimens for COVID-related tests, but hypothetical willingness can differ from post-collection acceptability after participants collect specimens. METHODS: 153 US adults were enrolled in a study of the willingness and feasibility of patients to self-collect three diagnostic specimens (saliva, oropharyngeal swab (OPS) and dried blood spot (DBS) card) while observed by a clinician through a telehealth session. After the specimens were collected, 148 participants participated in a survey about the acceptability of the collection, packing and shipping process, and their confidence in the samples collected for COVID-related laboratory testing. RESULTS: A large majority of participants (>84%) reported that collecting, packing and shipping of saliva, OPS, and DBS specimens were acceptable. Nearly nine in 10 (87%) reported being confident or very confident that the specimens they collected were sufficient for laboratory analysis. There were no differences in acceptability for any specimen type, packing and shipping, or confidence in samples by gender, age, race/ethnicity, or educational level. CONCLUSIONS: Self-collection of specimens for SARS-CoV-2 testing and preparing and shipping specimens for analysis were acceptable in a diverse group of US adults. Further refinement of materials and instructions to support self-collection of saliva, OPS and DBS specimens for COVID-related testing is needed.
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Pared Abdominal/cirugía , Antibacterianos/administración & dosificación , Bioprótesis/efectos adversos , Terapia de Presión Negativa para Heridas , Infecciones Relacionadas con Prótesis/etiología , Infecciones Relacionadas con Prótesis/terapia , Mallas Quirúrgicas/efectos adversos , Enfermedad Crónica , Humanos , Masculino , Persona de Mediana Edad , Soluciones/administración & dosificación , Irrigación TerapéuticaRESUMEN
The cover image, by Isabel Hardee et al., is based on the Clinical Report Defective ciliogenesis in INPP5E-related Joubert syndrome, DOI: 10.1002/ajmg.a.38376. Design Credit: Darryl Leja.
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Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Joubert syndrome exhibits genetic heterogeneity, with mutations identified in more than 30 genes, including INPP5E, a gene encoding inositol polyphosphate 5-phosphatase E, which is important in the development and stability of the primary cilium. Here, we report the detailed clinical phenotypes of two sisters with a novel homozygous variant in INPP5E (NM_019892.4: c.1565G>C, NP_063945.2: p.Gly552Ala), expanding the phenotype associated with Joubert syndrome type 1. Expression studies using patient-derived fibroblasts showed changes in mRNA and protein levels. Analysis of fibroblasts from patients revealed that a significant number of cells had shorter or no cilia, indicating defects in ciliogenesis, and cilia maintenance.