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Sjögren–Larsson syndrome (SLS) is a rare inherited neurocutaneous disease characterized by ichthyosis, spastic diplegia or tetraplegia, intellectual disability and a distinctive retinopathy. SLS is caused by bi-allelic mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase (FALDH) and results in abnormal lipid metabolism. The biochemical abnormalities in SLS are not completely known, and the pathogenic mechanisms leading to symptoms are still unclear. To search for pathways that are perturbed in SLS, we performed untargeted metabolomic screening in 20 SLS subjects along with age- and sex-matched controls. Of 823 identified metabolites in plasma, 121 (14.7%) quantitatively differed in the overall SLS cohort from controls; 77 metabolites were decreased and 44 increased. Pathway analysis pointed to disrupted metabolism of sphingolipids, sterols, bile acids, glycogen, purines and certain amino acids such as tryptophan, aspartate and phenylalanine. Random forest analysis identified a unique metabolomic profile that had a predictive accuracy of 100% for discriminating SLS from controls. These results provide new insight into the abnormal biochemical pathways that likely contribute to disease in SLS and may constitute a biomarker panel for diagnosis and future therapeutic studies.

Thousands of children experience a cardiac arrest event in the hospital each year, with more than half of these patients not surviving to hospital discharge. Cardiopulmonary resuscitation (CPR) depth, rate, velocity and percentage of high-quality chest compressions are modifiable factors associated with improved survival. Therefore, we created a novel and standardised process to track and analyse cardiac arrests in the Duke paediatric intensive care unit (PICU). Our aim was to identify areas for improved American Heart Association (AHA) compliance and implement education and communication-based initiatives to enhance early recognition of at-risk patients leading to improved outcomes. From January 2017 to December 2018, all cardiac arrests in our PICU were tracked, reviewed and presented at monthly morbidity and mortality conference. We used the data to track compliance with AHA guidelines and identify opportunities for improvement. Through these efforts, we established a multidisciplinary cardiac arrest education and review programme. Over the 2-year period, we tracked 45 cardiac arrests, which comprised 2% of all PICU admissions. In 2017, during the first year of development, 16 of 22 arrests (73%) were not reported to code committee members in time for complete review. Of the six cardiac arrests with complete reviews, only 17% followed AHA guidelines. In 2018, all 23 arrest events were communicated and 76% of resuscitations were found to be compliant with AHA guidelines. Survival of patients to discharge was 47% in 2017 and increased to 63% in 2018 with similar percentage of PICU admissions having a cardiac arrest between the 2 years. The primary aim of this project was to establish a multidisciplinary comprehensive cardiac arrest review process. This programme allowed for comprehensive analysis of individual events, promoted quality improvement initiatives and improved consistent delivery of high-quality CPR.

Abstract Background Yttrium-90 (90Y) radioembolization involves the intra-arterial delivery of radioactive microspheres to treat hepatic malignancies. Though this therapy involves careful pre-treatment planning and imaging, little is known about the precise location of the microspheres once they are administered. Recently, there has been growing interest post-radioembolization imaging using positron-emission tomography (PET) for quantitative dosimetry and identifying lesions that may benefit from additional salvage therapy. In this study, we aim to measure the inter-center variability of 90Y PET measurements as measured on PET/MRI in preparation for a multi-institutional prospective phase I/II clinical trial. Eight institutions participated in this study and followed a standardized phantom filling and imaging protocol. The NEMA NU2-2012 body phantom was filled with 3 GBq of 90Y chloride solution. The phantom was imaged for 30 min in listmode on a Siemens Biograph mMR non-TOF PET/MRI scanner at five time points across 10 days (0.3–3.0 GBq). Raw PET data were sent to a central site for image reconstruction and data analysis. Images were reconstructed with optimal parameters determined from a previous study. Volumes of interest (VOIs) matching the known sphere diameters were drawn on the vendor-provided attenuation map and propagated to the PET images. Recovery coefficients (RCs) and coefficient of variation of the RCs (COV) were calculated from these VOIs for each sphere size and activity level. Results Mean RCs ranged from 14.5 to 75.4%, with the lowest mean RC coming from the smallest sphere (10 mm) on the last day of imaging (0.16 MBq/ml) and the highest mean RC coming from the largest sphere (37 mm) on the first day of imaging (2.16 MBq/ml). The smaller spheres tended to exhibit higher COVs. In contrast, the larger spheres tended to exhibit lower COVs. COVs from the 37 mm sphere were 25%. Conclusions Post-radioembolization dosimetry of lesions or other VOIs ≥ 22 mm in diameter can be consistently obtained (