RESUMEN
Background: Magnetic Resonance Imaging (MRI) may be useful as an alternative to perinatal post-mortem autopsy. Our service has high rates of perinatal loss, and low rates of post-mortem autopsy. We have offered post-mortem MRI for the last 5 years, however how MRI is currently being used, have not been reviewed. Aim(s): To describe: (i) the number of perinatal post-mortem MRIs performed, (ii) the reasons for offering MRI, (iii) whether the MRI was contributory to diagnosing cause of perinatal loss or adding extra information. Method(s): Cases were identified crosschecking perinatal loss and radiology data from 2010 to 2021. Anonymised summaries of clinical notes and investigation results of all cases were reviewed by two multidisciplinary groups, each of whom had MRI reports for half of the cases. Congruency of final classification of cause of death was compared and groups reported for each case whether MRI provided new information. Result(s): Between 2018 and 2021 there were 426 perinatal losses, of which 17 were investigated with MRI. In all cases MRI was offered after parents declined autopsy and was performed in addition to other investigations (maternal blood tests, placental karyotype, and histology). MRI changed the final PDC code in 1 case, provided additional findings in 2 cases, confirmed antenatally diagnosed anomalies in 4 cases and was non-contributory to diagnosing cause of death in 11/17 cases. Conclusion(s): In our service, post-mortem MRI has been used infrequently as part of the investigations into perinatal loss. When used, it has been most useful in confirming presence of structural anomalies diagnosed antenatally. Conclusion(s): High COVID-19 community prevalence was associated with increased MROP numbers at our clinical site, but inferences are limited by a lack of standardisation of operative reporting.
RESUMEN
Nusinersen is one of three drug treatments currently available to children and adults with spinal muscular atrophy (SMA) in England. The use of nusinersen is conditional to a managed access agreement (MAA) since July 2019. This study aims to describe the characteristics of the paediatric patients in the nusinersen MAA. Retrospective data from July 2019 to March 2022 was extracted from the SMA research and clinical hub UK (SMA REACH UK) registry which includes fifteen centres in England. Patients hold a minimum of 2 data entries yearly for each mandated field after the initial baseline assessment. The data report includes, gender, SMA type, SMN2 copy number, date of nusinersen first dose, and mandatory collection fields for medical and physiotherapy data. Medical data collection includes mortality;respiratory function (FVC and PCF, ventilation type and estimation of hours of ventilation);presence of scoliosis, spinal surgery, and Thoracolumbar support (TLSO) use and presence of fractures. The motor function measures include CHOP-INTEND, HINE, RHS, RULM and summary of contractures. 231 patients (129 males, 102 females) with SMA (Type 1=93, Type 2=85, type 3=50, pre-symptomatic=3) are receiving nusinersen via the MAA. The mean age of enrolment is 5.5 years (age range=10days-17years and 9months). There have been four deaths. During the COVID-19 pandemic structured remote assessments were agreed among the network to ensure continued collection of data, however the pandemic impacted functional outcomes collection. The SMA REACH UK registry provides a robust system to collect information on patients to address clinical uncertainties originally identified by the national institute of clinical excellence (NICE). It serves as a systematic model for longer term real-world data collection to evaluate clinical effectiveness of drugs, as well as potential evaluation of economic impact. The SMA reach UK registry has recently expanded to include adult centres. SMA reach UK is part of the international SMA registry (ISMAR) which includes registries in Italy and the US. [ FROM AUTHOR] Copyright of Neuromuscular Disorders is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full . (Copyright applies to all s.)
RESUMEN
The 2020 COVID-19 pandemic brought uncertainty, anxiety, and stress into households;however, it also created an opportunity as many families, sequestered at home, found themselves spending much more time together. To support families and improve their ability to cope, recover, and build resilience amid the pandemic, Purdue University's College of Health and Human Sciences (HHS) launched Families Tackling Tough Times Together (FT), a strength-based multi-week online program informed by scientific evidence about family resilience. Offered through a Facebook group, FT targeted parents or caregivers, children, youth, young adults, older adults, and helping professionals serving families. FT was designed to appeal to both military and civilian families, in part because both groups were experiencing similar challenges associated with the pandemic. This was not only an opportunity to bring civilian and military families together, but also for civilian families to learn from the experiences of military families in surmounting signifi cant challenges. This article describes the development and implementation of the FT program, as well as lessons learned. Strategies highlighted in this article may be helpful to researchers or practitioners who wish to implement a rapid-response intervention aimed at building family resilience. © 2020 Journal of Military, Veteran and Family Health. All rights reserved.