Traumatic brain injury (TBI) causes significant morbidity and mortality in pediatric patients and care is highly variable. Standardized mortality ratio (SMR) summarizes the mortality rate of a ...specific center relative to the expected rates across all centers, adjusted for case-mix. This study aimed to evaluate variations in SMRs among pediatric trauma centers for TBI.
Patients aged 1–18 diagnosed with TBI within the National Trauma Data Bank (NTDB) from 2017 to 2019 were included. Center-specific SMRs and 95% confidence intervals identified centers with mortality rates significantly better or worse than the median SMR for all centers.
316 centers with 10,598 patients were included. SMRs were risk-adjusted for patient risk factors. Unadjusted mortality ranged from 16.5 to 29.5%. Three centers (1.5%) had significantly better SMR (SMR <1) and three centers (1.5%) had significantly worse SMR (SMR >1). Significantly better centers had a lower proportion of neurosurgical intervention (2.4% vs. 11.8%, p < 0.001), a higher proportion of supplemental oxygen administration (93.7% vs. 83.5%, p = 0.004) and venous thromboembolism prophylaxis (53.2% vs. 40.6%, p < 0.001) compared to significantly worse centers.
This study identified centers that have significantly higher and lower mortality rates for pediatric TBI patients relative to the overall median rate. These data provide a benchmark for pediatric TBI outcomes and institutional quality improvement.
Level III.
Retrospective Comparative Study
What is currently known about this topic?•Children with traumatic brain injury are treated at a variety of centers, and care is not standardized among these centers.
What new information is contained in this article?•This is the first analysis that evaluated SMRs specific to TBI in the pediatric trauma population using NTBD data.
Avoidable transfers (AT) in pediatric trauma can increase strain on healthcare resources and families. We sought to identify characteristics of patients and their injuries that are associated with ...AT.
A multicenter retrospective cross-sectional study of the regional Trauma Registry was conducted from 1/1/10–12/31/21 of children <18 years-old who experienced an interfacility transfer. AT was defined as receiving hospital length of stay (LOS) <48hrs without procedure or intervention performed. Patient demographics, mechanism of injury, and arrival time were analyzed with descriptive statistics. A multivariable logistic regression was performed to analyze demographic and clinical factors associated with AT.
We included 5,438 trauma transfers, of which 2,187(40.2%) were AT. Patients experiencing AT had a median IQR age of 5 years 1-12 and most were male (67%) and Hispanic/Latino (46.3%). The odds of experiencing AT decreased as age increased and were less likely in females and Non-Hispanic Black children. Injuries from falls (ground level (OR=2.48; 95%CI=1.89-3.28) and >10ft (OR=3.20; 95%CI=2.35-4.39)), sports/recreational activities (OR=2.36; 95%CI=1.78-3.16), MVCs (OR=1.44; 95%CI=1.05-1.98), and firearms (OR=1.74; 95%CI=1.15-2.62) were associated with an increased odds of AT. Time of arrival at the receiving facility in early hours (00:00-07:59) (OR=1.48; 95%CI=1.24-1.76) and evening hours (17:00-23:59) (OR=1.75; 95%CI=1.47-2.07) were associated with an increased odds of AT.
Younger patients, injuries from falls, sports/recreational activities, MVCs, and firearms as well as arrival time outside of standard work hours are more likely to result in AT. Knowing these results, we can begin working with our referral centers to improve communication and strengthen institutional transfer criteria for pediatric trauma patients. Further investigation will then be needed to determine if the changes implemented have influenced care and lowered rates of avoidable transfer.
Level III
•AT of pediatric trauma patients contributes to unnecessary use of resources and prolongs length of stay.•The factors associated with AT include patient and injury characteristics. An arrival time at the receiving hospital beyond standard work hours has an increased association with AT in pediatric trauma patients.
Congenital diaphragmatic hernia (CDH) is the most common indication for ECLS in neonatal respiratory failure. The ultimate purpose of ECLS is to grant cardiopulmonary support, allowing time for ...operative intervention and optimization of cardiopulmonary function as the pathophysiologic processes of pulmonary hypertension, pulmonary hypoplasia, and ventricular dysfunction either improve or resolve. In CDH, ECLS plays a crucial role in the management of the most challenging patients, facilitating postnatal stabilization, allowing a ventilation strategy which minimizes barotrauma and volutrauma, and permitting treatment of and recovery from pulmonary hypertension and/or cardiac dysfunction. Understanding the nuances of CDH patients, which differ from other forms of neonatal respiratory failure, and the benefits of ECLS for these infants, is crucial for effective management. CDH patients present distinct challenges. Every aspect of ECLS, from mode of support and anticoagulation medication to pump selection, ventilation strategy, pulmonary hypertension management, and the weaning process, requires meticulous consideration. ECLS for CDH serves as a bridge to making informed decisions, granting clinicians stability and time to manage / recover from specific pathophysiologic consequences, and it offers the potential for survival among even the most challenging and complex patients. As overall care and management for infants with CDH receiving ECLS continue to improve, the focus has shifted toward managing survivor morbidity. Given the multisystem nature of the disease, this requires significant experience, expertise, and multidisciplinary teamwork to optimize long-term outcomes for these patients.
Overnight radiology coverage for pediatric trauma patients (PTPs) is addressed with a combination of on-call radiology residents (RRs) and/or attending teleradiologists (ATs); however, the accuracy ...of these two groups has not been investigated for PTPs. We aimed to compare the accuracy of RRs vs AT interpretations of computed tomography (CT) scans for PTPs.
Pediatric trauma patients (<18 years old) at a single level-I adult/level-II pediatric trauma center were studied in a retrospective analysis (3/2019-5/2020). Computed tomography scans interpreted by both RRs and ATs were included. Radiology residents were compared to ATs for time to interpretation (TTI) and accuracy compared to faculty attending radiologist interpretation, using the validated RADPEER scoring system. Additionally, RR and AT accuracies were compared to a previously studied adult cohort during the same time-period.
42 PTPs (270 interpretations) and 1053 adults (8226 interpretations) were included. Radiology residents had similar rates of discrepancy (13.3% vs 13.3%), major discrepancy (4.4% vs 4.4%), missed findings (9.6% vs 12.6%), and overcalls (3.7% vs .7%) vs ATs (all
> .05). Mean TTI was shorter for RRs (55.9 vs 90.4 minutes,
< .001). Radiology residents had a higher discrepancy rate for PTPs (13.3% vs 7.5%,
= .01) than adults. Attending teleradiologists had a similar discrepancy rate for PTPs and adults (13.3% vs 8.9%,
= .07).
When interpreting PTP CT imaging, RRs had similar discrepancy rates but faster TTI than ATs. Radiology residents had a higher discrepancy rate for PTP CTs than RR interpretation of adult patients, indicating both RRs and ATs need more focused training in the interpretation of PTP studies.
Mitochondrial diseases (MDs) are a large group of genetically determined multisystem disorders, characterized by extreme phenotypic heterogeneity, attributable in part to the dual genomic control ...(nuclear and mitochondrial DNA) of the mitochondrial proteome. Advances in next-generation sequencing technologies over the past two decades have presented clinicians with a challenge: to select the candidate disease-causing variants among the huge number of data provided. Unfortunately, the clinical tools available to support genetic interpretations still lack specificity and sensitivity. For this reason, the diagnosis of MDs continues to be difficult, with the new “genotype first” approach still failing to diagnose a large group of patients. With the aim of investigating possible relationships between clinical and/or biochemical phenotypes and definitive molecular diagnoses, we performed a retrospective multicenter study of 111 pediatric patients with clinical suspicion of MD. In this cohort, the strongest predictor of a molecular (in particular an mtDNA-related) diagnosis of MD was neuroimaging evidence of basal ganglia (BG) involvement. Regression analysis confirmed that normal BG imaging predicted negative genetic studies for MD. Psychomotor regression was confirmed as an independent predictor of a definitive diagnosis of MD. The findings of this study corroborate previous data supporting a role for neuroimaging in the diagnostic approach to MDs and reinforce the idea that mtDNA sequencing should be considered for first-line testing, at least in specific groups of children.
To analyse the prevalence of
mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). ...Forty-eight patients from 43 families were included in the study.
Direct sequencing of
was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity was analysed in monocyte isolated from patients and healthy controls incubated with adenosine and with or without an ADA1 inhibitor.
Biallelic homozygous or compound heterozygous
mutations were detected in 15/48 patients. A heterozygous disease-associated mutation (p.G47V) was observed in two affected brothers. The mean age of onset of the genetically positive patients was 24 months (6 months to 7 years). Ten patients displayed one or more cerebral strokes during their disease course. Low immunoglobulin levels were detected in six patients. Thalidomide and anti-TNF (tumour necrosis factor) blockers were the most effective drugs. Patients without
mutations had a later age at disease onset, a lower prevalence of neurological and skin manifestations; one of these patients displayed all the clinical features of adenosine deaminase 2deficiency (DADA2) and a defective enzymatic activity suggesting the presence of a missed mutation or a synthesis defect.
DADA2 accounts for paediatric patients diagnosed with PAN-like disease and strokes and might explain an unrecognised condition in patients followed by adult rheumatologist. Timely diagnosis and treatment with anti-TNF agents are crucial for the prevention of severe complications of the disease. Functional assay to measure ADA2 activity should complement genetic testing in patients with non-confirming genotypes.
To delineate the epileptology, a key part of the
phenotypic spectrum, in a large patient cohort.
Patients were recruited via investigators' practices or social media. We included patients with ...(likely) pathogenic
variants or chromosome 6p21.32 microdeletions incorporating
. We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos.
We included 57 patients (53% male, median age 8 years) with
mutations (n = 53) or microdeletions (n = 4). Of the 57 patients, 56 had epilepsy: generalized in 55, with focal seizures in 7 and infantile spasms in 1. Median seizure onset age was 2 years. A novel type of drop attack was identified comprising eyelid myoclonia evolving to a myoclonic-atonic (n = 5) or atonic (n = 8) seizure. Seizure types included eyelid myoclonia with absences (65%), myoclonic seizures (34%), atypical (20%) and typical (18%) absences, and atonic seizures (14%), triggered by eating in 25%. Developmental delay preceded seizure onset in 54 of 56 (96%) patients for whom early developmental history was available. Developmental plateauing or regression occurred with seizures in 56 in the context of a developmental and epileptic encephalopathy (DEE). Fifty-five of 57 patients had intellectual disability, which was moderate to severe in 50. Other common features included behavioral problems (73%); high pain threshold (72%); eating problems, including oral aversion (68%); hypotonia (67%); sleeping problems (62%); autism spectrum disorder (54%); and ataxia or gait abnormalities (51%).
mutations cause a generalized DEE with a distinctive syndrome combining epilepsy with eyelid myoclonia with absences and myoclonic-atonic seizures, as well as a predilection to seizures triggered by eating.
•Motor abnormalities are important in depression but are assessed subjectively•We reviewed studies assessing motor performance with instrumental procedures•Depression is associated with impaired ...gait, balance and posture•Motor abnormalities in old age likely depend on cognitive and physical comorbidities•Antidepressants and exercise may ameliorate motor features of depression
Psychomotor symptoms of depression are understudied despite having a severe impact on patient outcomes. This review aims to summarize the evidence on motor features of depression assessed with instrumental procedures, and examine age-related differences. We included studies investigating posture, balance and gait ascertained with instrumental measurements among individuals with depressive symptoms or disorders. Studies on subjects with specific physical illnesses were excluded. Methodological quality was assessed with the Newcastle - Ottawa Scale (NOS) and PRISMA guidelines were followed. 33 studies (13 case-control, five cross-sectional, nine longitudinal and six intervention) with overall low-medium quality were included. Different instruments were employed to assess posture (e.g. digital cameras), balance (balance, stepping platform) or gait (e.g. Six-Minute-Walking Test, instrumented walkways). Results suggest that depression in adults is associated with significant impairments of posture, balance and gait. Motor abnormalities among depressed older adults may depend on the interplay of physical diseases, cognitive impairment and mood. Very few intervention studies measured motor symptoms as outcome. Available evidence suggests, however, that antidepressant drugs and physical exercise may be beneficial for motor abnormalities. Despite the lack of high-quality studies, instrumental assessments confirm the presence and importance of motor abnormalities in depression, with potential age-related differences in their pathophysiology.
Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7-year-old Italian ...boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPHOS defects and decreased mtDNA copy number (40%) were detected in muscle homogenate. Clinical features combined with low level of plasma citrulline were highly suggestive of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, however, the common m.3243 A > G mutation was excluded. Targeted exome sequencing of genes encoding the mitochondrial proteome identified a damaging mutation, c.567 G > A, affecting a highly conserved amino acid residue (p.Gly189Arg) of the MRM2 protein. MRM2 has never before been linked to a human disease and encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA. We generated a knockout yeast model for the orthologous gene that showed a defect in respiration and the reduction of the 2'-O-methyl modification at the equivalent position (U2791) in the yeast mitochondrial 21S rRNA. Complementation with the mrm2 allele carrying the equivalent yeast mutation failed to rescue the respiratory phenotype, which was instead completely rescued by expressing the wild-type allele. Our findings establish that defective MRM2 causes a MELAS-like phenotype, and suggests the genetic screening of the MRM2 gene in patients with a m.3243 A > G negative MELAS-like presentation.
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