Data_Sheet_1_Clinical assessment to identify pelvic injuries in the prehospital setting: a prospective cohort study.docx

ObjectivesPelvic injuries can be life-threatening and are challenging to identify in the prehospital phase. This study aimed to assess how pelvic examination is performed by paramedics and to determine the accuracy of their clinical examination when identifying pelvic fractures.MethodsThis was a prospective cohort study of prehospital interventions including both real and simulated trauma patients between July and August 2022. Data collection for the injured patient was made by an observer who was paired with teams of two consenting paramedics. Data pertaining to the clinical assessment for potential pelvic injuries during all interventions with a trauma patient were collected. Additionally, data were collected during four simulated scenarios of patients with an open-book type pelvic fracture following high-energy trauma mechanisms.ResultsA total of 29 trauma-related clinical interventions were assessed. Most patients were female (n = 22, 75.9%) with a mean age of 69.8 (SD 22.2) years. Fall from standing was the main trauma mechanism (n = 21, 72.4%). During 72.4% (n = 21) of all trauma-related interventions, an assessment for pelvic injuries was performed, mostly by pelvic palpation (n = 19, 65.5%), inquiring about the presence of pain (n = 12, 41.4%), searching for deformation (n = 7, 24.1%), and/or assessing leg length (n = 8, 27.6%). No pelvic injury was suspected by the paramedics, but two patients (6.9%) had a pelvic fracture and two (6.9%) had a hip fracture. Simulated cases of high-velocity mechanisms with an open-book pelvic fracture were completed by 11 pairs of paramedics. Most did a clinical pelvic assessment (n = 8, 72.7%) using palpation. When asked after the simulation, nine pairs (81.8%) suspected a pelvic fracture.ConclusionPelvic injuries are challenging to identify, and pelvic assessment on the field is not standardized among paramedics. Training is needed to increase awareness relative to pelvic injuries and to improve detection.</p

BMJ. Supplement - eTable 2 (Congress)

BMJ. Supplement - eTable 2 (Congress

BMJ. Supplement - eTable 1 (EMBASE Search Strategy)

BMJ. Supplement - eTable 1 (EMBASE Search Strategy

BMJ. Supplement - eTable 3 (Prisma Checklist)

BMJ. Supplement - eTable 3 (Prisma Checklist

Novel genes and mutations in patients affected by recurrent pregnancy loss

<div><p>Recurrent pregnancy loss is a frequently occurring human infertility-related disease affecting ~1% of women. It has been estimated that the cause remains unexplained in >50% cases which strongly suggests that genetic factors may contribute towards the phenotype. Concerning its molecular aetiology numerous studies have had limited success in identifying the disease’s genetic causes. This might have been due to the fact that hundreds of genes are involved in each physiological step necessary for guaranteeing reproductive success in mammals. In such scenario, next generation sequencing provides a potentially interesting tool for research into recurrent pregnancy loss causative mutations.</p><p>The present study involved whole-exome sequencing and an innovative bioinformatics analysis, for the first time, in 49 unrelated women affected by recurrent pregnancy loss. We identified 27 coding variants (22 genes) potentially related to the phenotype (41% of patients). The affected genes, which were enriched by potentially deleterious sequence variants, belonged to distinct molecular cascades playing key roles in implantation/pregnancy biology.</p><p>Using a quantum chemical approach method we established that mutations in MMP-10 and FGA proteins led to substantial energetic modifications suggesting an impact on their functions and/or stability.</p><p>The next generation sequencing and bioinformatics approaches presented here represent an efficient way to find mutations, having potentially moderate/strong functional effects, associated with recurrent pregnancy loss aetiology. We consider that some of these variants (and genes) represent probable future biomarkers for recurrent pregnancy loss.</p></div

Bioinformatics filtering of exome sequencing data.

<p><b>All-ex:</b> Complete exome sequencing data excluding RPL-234 results. <b>RPL-234:</b> group of RPL candidate genes. <b>C+:</b> sequence variants involving residues strictly conserved during evolution.</p

FMO results for MMP-10 WT <i>vs</i>. MT.

<p><b>(A)</b> PIEDA contributions of amino acids interacting with position 199, conserved interactions between WT and MT are shadowed in gray (energies are expressed in kcal/mol). <b>(B) WT and (C) MT.</b> Bar plots describe the PIEDA of energy interaction terms: electrostatics (green), exchange-repulsion (red), charge-transfer (blue), dispersion (yellow), and solvation (cyan). Positive values are considered destabilising and negative stabilizing. (<b>D)</b> Overall view of the analysed system. In the red box, a detail of the mutation zone. (<b>E)</b> Detail of the amino acids and ions interacting with the Asp199 in MMP-10 WT. <b>(F)</b> Detail of the amino acids and ions interacting with the Asn199 in MMP-10.</p

Pathogenicity predictions.

<p>Pathogenicity predictions.</p

Sequence variants identified in RPL patients.

<p>Sequence variants identified in RPL patients.</p

Table S2 from Association of <i>FOXD1</i> variants with adverse pregnancy outcomes in mice and humans

Primer sequence