Prehospital vital signs and the Glasgow Coma Scale score are often missing in clinical practice and not recorded in trauma databases. Our study aimed to identify factors associated with missing ...prehospital physiological values, including systolic blood pressure, heart rate, respiratory rate, peripheral oxygen saturation, and Glasgow Coma Scale.
We used our hospital trauma registry to obtain patient, injury, resuscitation, and transportation characteristics for injured children and adolescents (age <15 y). We evaluated the association of missing documentation of prehospital values with other patient, injury, transportation, and resuscitation characteristics using multivariable regression. We standardized vital sign values using age-adjusted z-scores.
The odds of a missing physiological value decreased with age (odds ratio OR = 0.9, 95% confidence interval CI = 0.9, 0.9) and were higher when prehospital cardiopulmonary resuscitation was required (OR = 3.3, 95% CI = 1.9, 5.7). Among the physiological values considered, we observed the highest odds of missingness of systolic blood pressure, respiratory rate, and oxygen saturation. The odds of observing normal emergency department physiological values were lower when prehospital physiological values were missing (OR = 0.9, 95% CI = 0.9, 1.0; P = 0.04).
Missing prehospital physiological values were associated with younger age and cardiopulmonary resuscitation among the injured children treated at our hospital. Measurement and documentation of physiological variables of patients with these characteristics should be targeted.
Emergency medical services clinicians do not transport one-third of all children assessed, even without official pediatric non-transport protocols. Little is known about how EMS clinicians and ...caregivers decide not to transport a child. Our objectives were to describe how EMS clinicians currently decide whether or not to transport a child and identify barriers to and enablers of successfully implementing an EMS clinician-initiated pediatric non-transport protocol.
We conducted six virtual focus groups with EMS clinicians from the mid-Atlantic. A PhD trained facilitator moderated all groups using a semi-structured moderator guide. Multiple investigators independently coded a deidentified sample transcript. One team member then completed axial coding of the remaining transcripts. Thematic saturation was achieved. Clusters of similar codes were grouped into themes by consensus.
We recruited 50 participants, of whom 70% were paramedics and 28% emergency medical technicians. There was agreement that caregivers often use 9-1-1 for low acuity complaints. Participants stated that non-transport usually occurs after shared decision-making between EMS clinicians and caregivers; EMS clinicians advise whether transport is necessary, but caregivers are responsible for making the final decision and signing refusal documentation. Subthemes for how non-transport decisions were made included the presence of agency protocols, caregiver preferences, absence of a guardian on the scene, EMS clinician variability, and distance to the nearest ED. Participants identified the following features that would enable successful implementation of an EMS clinician-initiated non-transport process: a user-friendly interface, clear protocol endpoints, the inclusion of vital sign parameters, resources to leave with caregivers, and optional direct medical oversight.
EMS clinicians in our study agreed that non-transport is currently a caregiver decision, but noted a collaborative process of shared decision-making where EMS clinicians advise caregivers whether transport is indicated. Further research is needed to understand the safety of this practice. This study suggests there may be a need for EMS-initiated alternative disposition/non-transport protocols.
Current methods of burn estimation can lead to incorrect estimates of the total body surface area (TBSA) burned, especially among injured children. Inaccurate estimation of burn size can impact ...initial management, including unnecessary transfer to burn centres and fluid overload during resuscitation. To address these challenges, we developed a smartphone application (EasyTBSA) that calculates the TBSA of a burn using a body-part by body-part approach. The aims of this study were to assess the accuracy of the EasyTBSA application and compare its performance to three established methods of burn size estimation (Lund-Browder Chart, Rule of Nines and Rule of Palms).
Twenty-four healthcare providers used each method to estimate burn sizes on moulaged manikins. The manikins represented different ages (infant, child and adult) with different TBSA burns (small <20%, medium 20%-49% and large >49%). We calculated the accuracy of each method as the difference between the user-estimated and actual TBSA. The true value of the complete body surface area of the manikins was obtained by three-dimensional scans. We used multivariable modelling to control for manikin size and method.
Among all age groups and burn sizes, the EasyTBSA application had the greatest accuracy for burn size estimation (-0.01%, SD 3.59%) followed by the Rule of Palms (3.92%, SD 10.71%), the Lund-Browder Chart (4.42%, SD 5.52%) and the Rule of Nines (5.05%, SD 6.87%).
The EasyTBSA application may improve the estimation of TBSA compared with existing methods.
Cells rely on a diverse repertoire of genes for maintaining homeostasis, but the transcriptional networks underlying their expression remain poorly understood. The MOF acetyltransferase-containing ...Non-Specific Lethal (NSL) complex is a broad transcription regulator. It is essential in Drosophila, and haploinsufficiency of the human KANSL1 subunit results in the Koolen-de Vries syndrome. Here, we perform a genome-wide RNAi screen and identify the BET protein BRD4 as an evolutionary conserved co-factor of the NSL complex. Using Drosophila and mouse embryonic stem cells, we characterise a recruitment hierarchy, where NSL-deposited histone acetylation enables BRD4 recruitment for transcription of constitutively active genes. Transcriptome analyses in Koolen-de Vries patient-derived fibroblasts reveals perturbations with a cellular homeostasis signature that are evoked by the NSL complex/BRD4 axis. We propose that BRD4 represents a conserved bridge between the NSL complex and transcription activation, and provide a new perspective in the understanding of their functions in healthy and diseased states.
Background
Most pediatric burn injuries are preventable. Social media is an effective method for delivering large-scale messaging and may be useful for injury prevention in this domain.
Objective
...This study evaluates the feasibility of creating a social media campaign for pediatric burn injury prevention.
Methods
Ad spots containing a headline, short introduction, and video were created and posted on Facebook and Instagram over 4 months. Ad spots were targeted to parents and caregivers of children in our region with the highest number of burn injuries. We assessed the impact of each ad set using ThruPlays, reach, and video plays.
Results
We created 55 ad spots, with an average length of 24.1 (range 10-44) seconds. We reached 26,496 people during the campaign. The total ThruPlays of the 55 ad spots were 14,460 at US $0.19 per ThruPlay. Ad spots related to home safety had a significantly higher daily ThruPlay rate than those related to fire safety (6.5 vs 0.5 per day; P<.001).
Conclusions
Social media is a feasible modality for delivering public health messages focused on preventing pediatric burn injuries. Engagement with these ads is influenced by ad presentation and the focus of the underlying injury prevention message.
Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as ...segmental because only some of the features observed during natural aging are accelerated.
Since 2015, the Molecular Genetics Laboratory in Marseille La Timone Hospital proposes molecular diagnosis of premature aging syndromes including laminopathies and related disorders upon NGS sequencing of a panel of 82 genes involved in these syndromes. We analyzed the results obtained in 4 years on 66 patients issued from France and abroad.
Globally, pathogenic or likely pathogenic variants (ACMG class 5 or 4) were identified in about 1/4 of the cases; among these, 9 pathogenic variants were novel. On the other hand, the diagnostic yield of our panel was over 60% when the patients were addressed upon a nosologically specific clinical suspicion, excepted for connective tissue disorders, for which clinical diagnosis may be more challenging. Prenatal testing was proposed to 3 families. We additionally detected 16 variants of uncertain significance and reclassified 3 of them as benign upon segregation analysis in first degree relatives.
High throughput sequencing using the Laminopathies/ Premature Aging disorders panel allowed molecular diagnosis of rare disorders associated with premature aging features and genetic counseling for families, representing an interesting first-level analysis before whole genome sequencing may be proposed, as a future second step, by the National high throughput sequencing platforms ("Medicine France Genomics 2025" Plan), in families without molecular diagnosis.
Recurrent 1q21.1 copy number variants (CNVs) have been associated with a wide spectrum of clinical features, ranging from normal phenotype to moderate intellectual disability, with congenital ...anomalies and dysmorphic features. They are often inherited from unaffected parents and the pathogenicity is difficult to assess. We describe the phenotypic and genotypic data for 34 probands carrying CNVs in the 1q21.1 chromosome region (24 duplications, 8 deletions and 2 triplications). We also reviewed 89 duplications, 114 deletions and 5 triplications described in the literature, at variable 1q21.1 locations. We aimed to identify the most highly associated clinical features to determine the phenotypic expression in affected individuals. Developmental delay or learning disabilities and neuropsychiatric disorders were common in patients with deletions, duplications and triplications of 1q21.1. Mild dysmorphic features common in these CNVs include a prominent forehead, widely spaced eyes and a broad nose. The CNVs were mostly inherited from apparently unaffected parents. Almost half of the CNVs were distal, overlapping with a common minimal region of 1.2 Mb. We delineated the clinical implications of 1q21.1 CNVs and confirmed that these CNVs are likely pathogenic, although subject to incomplete penetrance and variable expressivity. Long-term follow-up should be performed to each newly diagnosed case, and prenatal genetic counseling cautiously discussed, as it remains difficult to predict the phenotype in the event of an antenatal diagnosis.
Pseudohypoparathyroidism 1B (PHP1B) is caused by maternal epigenetic defects in the imprinted GNAS cluster. PHP1B can follow an autosomal dominant mode of inheritance or occur sporadically ...(spor-PHP1B). These latter patients present broad methylation changes of two or more differentially methylated regions (DMR) that, when mimicking the paternal allele, raises the suspicious of the occurrence of paternal uniparental disomy of chromosome 20 (upd(20)pat).
A cohort of 33 spor-PHP1B patients was screened for upd(20)pat using comparative genomic hybridization with SNP-chip. Methylation analyses were assessed by methylation specific-multiplex ligation-dependent probe amplification. Upd(20)pat was identified in 6 patients, all exhibiting typical paternal methylation pattern compared to normal controls, namely a complete loss of methylation of GNAS A/B:TSS-DMR, negligible methylation at GNAS-AS1:TSS-DMR and GNAS-XL:Ex1-DMR and complete gain of methylation at GNAS-NESP:TSS-DMR. The overall frequency of upd(20) is 18% in our cohort when searched considering both severe and partial loss of imprinting. However, twenty five patients displayed severe methylation pattern and the upd(20)pat frequency reaches 24% when searching in this group. Consequently, up to day, upd(20)pat is the most common anomaly than other genetic alterations in spor-PHP1B patients.
Upd(20)pat occurrence is not linked to the parental age in contrast to upd(20)mat, strongly associated with an advanced maternal childbearing age.
This study provides criteria to guide further investigations for upd(20)pat needed for an adequate genetic counseling.
Wiedemann‐Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the ...identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high‐throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 families and mosaicism in one family. Clinically, we observed a broad phenotypic spectrum with regard to ID (mild to severe), the facies (typical or not of WSS) and associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Hypertrichosis cubiti that was supposed to be pathognomonic in the literature was found only in 61% of our cases. This is the largest series of WSS cases yet described to date. A majority of patients exhibited suggestive features, but others were less characteristic, only identified by molecular diagnosis. The prevalence of WSS was higher than expected in patients with ID, suggesting than KMT2A is a major gene in ID.
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