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Juvenile-onset Huntington's disease (JOHD) is a rare and particularly devastating form of Huntington's disease (HD) for which clinical diagnosis is challenging and robust outcome measures are lacking. Neurofilament light protein (NfL) in plasma has emerged as a prognostic biomarker for adult-onset HD.We performed a retrospective analysis of samples and data collected between 2009 and 2020 from the Kids-HD and Kids-JHD studies. Plasma samples from children and young adults with JOHD, premanifest HD (preHD) mutation carriers, and age-matched controls were used to quantify plasma NfL concentrations using ultrasensitive immunoassay.We report elevated plasma NfL concentrations in JOHD and premanifest HD mutation-carrying children. In pediatric HD mutation carriers who were within 20 years of their predicted onset and patients with JOHD, plasma NfL level was associated with caudate and putamen volumes.Quantifying plasma NfL concentration may assist clinical diagnosis and therapeutic trial design in the pediatric population. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.

This paper presents an evaluation of optical fibre sensors for use in brachytherapy treatment where the sensor tip is embedded with radiosensitive scintillation powder, Terbium doped Gadolinium Oxysulphide (Gd2O2S:Tb). Two sensors, fabricated using the same fiber design parameter and size, have been fabricated and evaluated using a Standard Imaging HDR 1000 Well Chamber for increasing numbers of brachytherapy seeds. A sensor holder was designed and 3-D printed to accommodate both the seeds and the sensor for this evaluation purposes. The results show a linear response with number of seeds and demonstrate an excellent agreement with the seed activity measured using a commercial type well chamber. In future, this can be a potential calibration methods for optical fibre sensors prior to use in brachytherapy.

Epigenetic regulation of gene expression is critical for normal development. Dysregulation of the epigenome can lead to the development and progression of a number of diseases relevant to paediatricians, including disorders of genomic imprinting and malignancies. It has long been recognised that early life events have implications for future disease risk, and epigenetic modifications may play a role in this, although further high-quality research is needed to better understand the underlying mechanisms. Research in the field of epigenetics will contribute to a greater understanding of growth, development and disease; however, paediatricians need to be able to interpret such research critically, in order to use the potential advances brought about through epigenetic studies while appreciating their limitations.

The Scottish Transfusion and Laboratory Support in Trauma Group (TLSTG) have introduced a unified National pre-hospital Code Red protocol. This paper reports the results of a study aiming to establish whether current pre-hospital Code Red activation criteria for trauma patients successfully predict need for in hospital transfusion or haemorrhagic death, the current admission coagulation profile and Concentrated Red Cell (CRC): Fresh Frozen Plasma (FFP) ratio being used, and whether use of the protocol leads to increased blood component discards?Prospective cohort study. Clinical and transfusion leads for each of Scotland's pre-hospital services and their receiving hospitals agreed to enter data into the study for all trauma patients for whom a pre-hospital Code Red was activated. Outcome data collected included survival 24h after Code Red activation, survival to hospital discharge, death in the Emergency Department and death in hospital.Between June 1st 2013 and October 31st 2015 there were 53 pre-hospital Code Red activations. Median Injury Severity Score (ISS) was 24 (IQR 14-37) and mortality 38%. 16 patients received pre-hospital blood. The pre-hospital Code Red protocol was sensitive for predicting transfusion or haemorrhagic death (89%). Sensitivity, specificity, positive and negative predictive values of the pre-hospital SBP90mmHg component were 63%, 33%, 86% and 12%. 19% had an admission prothrombin time14s and 27% had a fibrinogen1.5g/L. CRC: FFP ratios did not drop to below 2:1 until 150min after arrival in the ED. 16 red cell units, 33 FFP and 6 platelets were discarded. This was not significantly increased compared to historical data.A National pre-hospital Code Red protocol is sensitive for predicting transfusion requirement in bleeding trauma patients and does not lead to increased blood component discards. A significant number of patients are coagulopathic and there is a need to improve CRC: FFP ratios and time to transfusion support especially FFP provision. Training clinicians to activate pre-hospital Code Red earlier during the pre-hospital phase may give blood bank more time to thaw and prepare FFP and may improve FFP administration times and ratios so long as components are used upon their availability.

A significant proportion of elderly and psychiatric patients do not have the capacity to make health care decisions. We suggest that machine learning technologies could be harnessed to integrate data mined from electronic health records (EHRs) and social media in order to estimate the confidence of the prediction that a patient would consent to a given treatment. We call this process, which takes data about patients as input and derives a confidence estimate for a particular patient's predicted health care-related decision as an output, the autonomy algorithm. We suggest that the proposed algorithm would result in more accurate predictions than existing methods, which are resource intensive and consider only small patient cohorts. This algorithm could become a valuable tool in medical decision-making processes, augmenting the capacity of all people to make health care decisions in difficult situations.

Introduction The World Health Organization estimates that up to half of vaccines are wasted, however only a minority of mHealth programs in Africa have been directed at vaccine supply chain optimisation. We piloted a novel mHealth solution dependent only on short message services (SMS) technology that allowed workers in rural health centres in Zambia to report vaccine stock levels directly to an online platform. Small airtime incentives were offered to encourage users to engage with the system, as well as weekly reminder messages asking for stock updates. Methods The primary outcome measured was the percentage-of-doses-tracked, calculated over the study period. Each vaccine box was randomly allocated to offer either a standard or double airtime incentive and either weekly or daily reminders, in a 2 x 2 design; ANOVA was used to calculate if any of these factors affected time-to-reply. Results Over the study period, the total percentage-of-doses-tracked was 39.9%. Within the subset of users who sent at least one message to the platform, the percentage-of-doses-tracked was 93.8%. There was no significant difference in average time-to-reply between the standard airtime incentive and double airtime incentive groups, nor was there a significant difference between the standard reminder and daily follow-up reminder groups. Conclusion This pilot study found that in an active subgroup of health workers, an incentivised mHealth solution was able to collect tracking data for 93.8% of doses. More research is needed to identify methods to encourage healthcare workers to engage in timely stock reporting practices.

Although target point-of-care (POC) ultrasonography has been shown to benefit patients in resource-limited settings, it is not clear whether a systematic POC ultrasound assessment in these settings can also lead to similar changes in patient management. A predefined systematic set of POC ultrasound scans were performed on inpatients at a tertiary referral hospital in Tanzania to see if this resulted in changes to patient management. Of the 55 patients scanned, an abnormality was detected in 75% (N = 41), and a change in patient management was recommended or implemented on the basis of POC ultrasound findings in 53% (N = 29). The main impact was earlier initiation of treatment due to more rapid and accurate diagnosis. Further research is warranted to determine whether systematic POC ultrasonography would result in improved patient outcomes in resource-limited settings.

Huntington's disease (HD) is a hereditary neurodegenerative condition with no therapeutic intervention known to alter disease progression, but several trials are ongoing and biomarkers of disease progression are needed. Tau is an axonal protein, often altered in neurodegeneration, and recent studies pointed out its role on HD neuropathology. Our goal was to study whether cerebrospinal fluid (CSF) tau is a biomarker of disease progression in HD. After informed consent, healthy controls, pre‐symptomatic and symptomatic gene expansion carriers were recruited from two HD clinics. All participants underwent assessment with the Unified HD Rating Scale ’99 (UHDRS). CSF was obtained according to a standardized lumbar puncture protocol. CSF tau was quantified using enzyme‐linked immunosorbent assay. Comparisons between two groups were tested using ancova. Pearson's correlation coefficients were calculated for disease progression. Significance level was defined as p

The pathophysiology of stress urinary incontinence (SUI) is multifactorial and evidence supports a critical role of pregnancy and vaginal delivery. This review dissects epidemiologic literature to determine the weight of evidence on the role of advanced maternal age (AMA) as a risk factor for the development of subsequent or persistent SUI. We conducted a Medline search using the keywords postpartum, SUI, maternal age, pregnancy, and incontinence. The published literature was critically analyzed. Evidence supports that childbirth trauma contributes to the development and severity of SUI. Yet, there is contradicting evidence as to whether AMA increases the risk. AMA clearly represents an independent risk factor for postpartum SUI. However, long-term studies did not confirm this observation. Whether this finding is suggestive of a true biologic signal that is lost with competing risk factors over time warrants further research.