Study protocol for a randomised clinical trial of a decision aid and values clarification method for parents of a fetus or neonate diagnosed with a life-threatening congenital heart defect

Introduction: Parents who receive the diagnosis of a life-threatening, complex heart defect in their fetus or neonate face a difficult choice between pursuing termination (for fetal diagnoses), palliative care or complex surgical interventions. Shared decision making (SDM) is recommended in clinical contexts where there is clinical equipoise. SDM can be facilitated by decision aids. The International Patient Decision Aids Standards collaboration recommends the inclusion of values clarification methods (VCMs), yet little evidence exists concerning the incremental impact of VCMs on patient or surrogate decision making. This protocol describes a randomised clinical trial to evaluate the effect of a decision aid (with and without a VCM) on parental mental health and decision making within a clinical encounter. Methods and analysis: Parents who have a fetus or neonate diagnosed with one of six complex congenital heart defects at a single tertiary centre will be recruited. Data collection for the prospective observational control group was conducted September 2018 to December 2020 (N=35) and data collection for two intervention groups is ongoing (began October 2020). At least 100 participants will be randomised 1:1 to two intervention groups (decision aid only vs decision aid with VCM). For the intervention groups, data will be collected at four time points: (1) at diagnosis, (2) postreceipt of decision aid, (3) postdecision and (4) 3 months postdecision. Data collection for the control group was the same, except they did not receive a survey at time 2. Linear mixed effects models will assess differences between study arms in distress (primary outcome), grief and decision quality (secondary outcomes) at 3-month post-treatment decision. Ethics and dissemination: This study was approved by the University of Utah Institutional Review Board. Study findings have and will continue to be presented at national conferences and within scientific research journals. Trial registration number: NCT04437069 (Pre-results)

The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from

Prevalence of Frailty in European Emergency Departments (FEED): an international flash mob study

Introduction Current emergency care systems are not optimized to respond to multiple and complex problems associated with frailty. Services may require reconfiguration to effectively deliver comprehensive frailty care, yet its prevalence and variation are poorly understood. This study primarily determined the prevalence of frailty among older people attending emergency care. Methods This cross-sectional study used a flash mob approach to collect observational European emergency care data over a 24-h period (04 July 2023). Sites were identified through the European Task Force for Geriatric Emergency Medicine collaboration and social media. Data were collected for all individuals aged 65 + who attended emergency care, and for all adults aged 18 + at a subset of sites. Variables included demographics, Clinical Frailty Scale (CFS), vital signs, and disposition. European and national frailty prevalence was determined with proportions with each CFS level and with dichotomized CFS 5 + (mild or more severe frailty). Results Sixty-two sites in fourteen European countries recruited five thousand seven hundred eighty-five individuals. 40% of 3479 older people had at least mild frailty, with countries ranging from 26 to 51%. They had median age 77 (IQR, 13) years and 53% were female. Across 22 sites observing all adult attenders, older people living with frailty comprised 14%. Conclusion 40% of older people using European emergency care had CFS 5 + . Frailty prevalence varied widely among European care systems. These differences likely reflected entrance selection and provide windows of opportunity for system configuration and workforce planning

Data report: pore water nitrate and silicate concentrations for Expedition 320/321 Pacific Equatorial Age Transect

Concentrations of dissolved nitrate and silicate were determined in pore water samples from all eight sites (U1331–U1338) of the Pacific Equatorial Age Transect, Integrated Ocean Drilling Program (IODP) Expedition 320/321. Nitrate measurements were not made shipboard, and they are useful in assessing the extent of suboxic diagenesis evident in these sites. Dissolved silicate concentrations were remeasured in this study because two different analytical techniques were used shipboard during Expeditions 320/321, and comparisons indicated issues with analytical consistency. Nitrate and silicate were measured simultaneously in pore water samples squeezed from whole rounds and obtained by Rhizon sampling using an automated colorimetric technique with flow injection analysis. Profiles of nitrate concentrations at Sites U1331–U1333 show the least variability with depth (~50–80 µM). Sites U1334–U1336 exhibit pronounced depletions (from ~300 to 0 µM at Site U1334, from ~150 to 1 µM at Site U1335, and from ~75 to 10 µM at Site U1336), whereas nitrate concentrations increase with depth at Sites U1337 and U1338 (to 64 and 198 µM, respectively). Silicate concentrations at Site U1331 reach ~1180 µM at ~8 meters below seafloor, whereas profiles at other sites generally increase with depth (from 550 to 1200 µM at Site U1332, from 700 to 1200 µM at Site U1333, from 800 to 1350 µM at Site U1334, from 870 to 1960 µM at Site U1337, and from 730 to 1560 µM at Site U1338). At Sites U1335 and U1336, silicate varies 800–1220 and 760–1100 µM, respectively