Biomarkers in immunonutrition programme, is there still a need for new ones? A brief review

Peer reviewedPublisher PD

Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1

Background: Myotonic Dystrophy type 1 (DM1) is a slowly progressive myopathy characterized by varying multisystemic involvement. Several cerebral features such as brain atrophy, ventricular enlargement, and white matter lesions (WMLs) have frequently been described. The aim of this study is to investigate the structural organization of the brain that defines the disease through multimodal imaging analysis, and to analyze the relation between structural cerebral changes and DM1 clinical and neuropsychological profiles. Method: 31 DM1 patients and 57 healthy controls underwent an MRI scan protocol, including T1, T2 and DTI. Global gray matter (GM), global white matter (WM), and voxel-level Voxel Based Morphometry (VBM) and voxel-level microstructural WM abnormalities through Diffusion Tensor Imaging (DTI) were assessed through group comparisons and linear regression analysis with age, degree of muscular impairment (MIRS score), CTG expansion size and neuropsychological outcomes from a comprehensive assessment. Results: Compared with healthy controls, DM1 patients showed a reduction in both global GM and WM volume; and further regional GM decrease in specific primary sensory, multi-sensory and association cortical regions. Fractional anisotropy (FA) was reduced in both total brain and regional analysis, being most marked in frontal, paralimbic, temporal cortex, and subcortical regions. Higher ratings on muscular impairment and longer CTG expansion sizes predicted a greater volume decrease in GM and lower FA values. Age predicted global GM reduction, specifically in parietal regions. At the cognitive level, the DM1 group showed significant negative correlations between IQ estimate, visuoconstructive and executive neuropsychological scores and both global and regional volume decrease, mainly distributed in the frontal, parietal and subcortical regions. Conclusions: In this study, we describe the structural brain signatures that delineate the involvement of the CNS in DM1. We show that specific sensory and multi-sensory — as well as frontal cortical areas — display potential vulnerability associated with the hypothesized neurodegenerative nature of DM1 brain abnormalities

Neurodegeneration trajectory in pediatric and adult/late DM1: A follow‐up MRI study across a decade

Objective: To characterize the progression of brain structural abnormalities in adults with pediatric and adult/late onset DM1, as well as to examine the potential predictive markers of such progression. Methods: 21 DM1 patients (pediatric onset: N = 9; adult/late onset: N = 12) and 18 healthy controls (HC) were assessed longitudinally over 9.17 years through brain MRI. Additionally, patients underwent neuropsychological, genetic, and muscular impairment assessment. Inter-group comparisons of total and voxel-level regional brain volume were conducted through Voxel Based Morphometry (VBM); cross-sectionally and longitudinally, analyzing the associations between brain changes and demographic, clinical, and cognitive outcomes. Results: The percentage of GM loss did not significantly differ in any of the groups compared with HC and when assessed independently, adult/late DM1 patients and their HC group suffered a significant loss in WM volume. Regional VBM analyses revealed subcortical GM damage in both DM1 groups, evolving to frontal regions in the pediatric onset patients. Muscular impairment and the outcomes of certain neuropsychological tests were significantly associated with follow-up GM damage, while visuoconstruction, attention, and executive function tests showed sensitivity to WM degeneration over time. Interpretation: Distinct patterns of brain atrophy and its progression over time in pediatric and adult/late onset DM1 patients are suggested. Results indicate a possible neurodevelopmental origin of the brain abnormalities in DM1, along with the possible existence of an additional neurodegenerative process. Fronto-subcortical networks appear to be involved in the disease progression at young adulthood in pediatric onset DM1 patients. The involvement of a multimodal integration network in DM1 is discussed.CIBERNED609 Eusko JaurlaritzaPRE_ 2016_1_0187PRE_2019_1_0070SAIO08- PE08BF01 Institute of Health Carlos III cofounded by Fondo Europeo de Desarrollo Regional-FEDERPI17/01231 PI17/0184

Integrating HIV, syphilis, malaria and anaemia point-of-care testing (POCT) for antenatal care at dispensaries in western Kenya: discrete-event simulation modelling of operational impact

Background Despite WHO advocating for an integrated approach to antenatal care (ANC), testing coverage for conditions other than HIV remains low and women are referred to distant laboratories for testing. Using point-of-care tests (POCTs) at peripheral dispensaries could improve access to testing and timely treatment. However, the effect of providing additional services on nurse workload and client wait times are unknown. We use discrete-event simulation (DES) modelling to understand the effect of providing four point-of-care tests for ANC on nurse utilization and wait times for women seeking maternal and child health (MCH) services. Methods We collected detailed time-motion data over 20 days from one high volume dispensary in western Kenya during the 8-month implementation period (2014–2015) of the intervention. We constructed a simulation model using empirical arrival distributions, activity durations and client pathways of women seeking MCH services. We removed the intervention from the model to obtain wait times, length-of-stay and nurse utilization rates for the baseline scenario where only HIV testing was offered for ANC. Additionally, we modelled a scenario where nurse consultations were set to have minimum durations for sufficient delivery of all WHO-recommended services. Results A total of 183 women visited the dispensary for MCH services and 14 of these women received point-of-care testing (POCT). The mean difference in total waiting time was 2 min (95%CI: < 1–4 min, p = 0.026) for MCH women when integrated POCT was given, and 9 min (95%CI: 4–14 min, p < 0.001) when integrated POCT with adequate ANC consult times was given compared to the baseline scenario. Mean length-of-stay increased by 2 min (95%CI: < 1–4 min, p = 0.015) with integrated POCT and by 16 min (95%CI: 10–21 min, p < 0.001) with integrated POCT and adequate consult times compared to the baseline scenario. The two nurses’ overall daily utilization in the scenario with sufficient minimum consult durations were 72 and 75%. Conclusion The intervention had a modest overall impact on wait times and length-of-stay for women seeking MCH services while ensuring pregnant women received essential diagnostic testing. Nurse utilization rates fluctuated among days: nurses experienced spikes in workload on some days but were under-utilized on the majority of days. Overall, our model suggests there was sufficient time to deliver all WHO’s required ANC activities and offer integrated testing for ANC first and re-visits with the current number of healthcare staff. Further investigations on improving healthcare worker, availability, performance and quality of care are needed. Delivering four point-of-care tests together for ANC at dispensary level would be a low burden strategy to improve ANC

Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration

Aim: To delineate the neurogenetic profiles of brain degeneration patterns in myotonic dystrophy type I (DM1). Methods: In two cohorts of DM1 patients, brain maps of volume loss (VL) and neuropsychological deficits (NDs) were intersected to large-scale transcriptome maps provided by the Allen Human Brain Atlas (AHBA). For validation, neuropathological and RNA analyses were performed in a small series of DM1 brain samples. Results: Twofold: (1) From a list of preselected hypothesis-driven genes, confirmatory analyses found that three genes play a major role in brain degeneration: dystrophin (DMD), alpha-synuclein (SNCA) and the microtubule-associated protein tau (MAPT). Neuropathological analyses confirmed a highly heterogeneous Tau-pathology in DM1, different to the one in Alzheimer's disease. (2) Exploratory analyses revealed gene clusters enriched for key biological processes in the central nervous system, such as synaptic vesicle recycling, localization, endocytosis and exocytosis, and the serotonin and dopamine neurotransmitter pathways. RNA analyses confirmed synaptic vesicle dysfunction. Conclusions: The combination of large-scale transcriptome interactions with brain imaging and cognitive function sheds light on the neurobiological mechanisms of brain degeneration in DM1 that might help define future therapeutic strategies and research into this condition

Guia per a la implementació de projectes d’atenció sanitària basada en el valor

Atenció sanitària basada en el valor; Serveis assistencials; Decisions compartidesAtención sanitaria basada en el valor; Servicios asistenciales; Decisiones compartidasValue-based health care; Assistance services; Shared decisionsEn aquest article es presenta la metodologia i els principals resultats del procés d’elaboració de la guia. Aquesta guia va dirigida als i les professionals i gestors/es sanitaris/àries que tinguin un interès i coneixement bàsic sobre la desimplementació de pràctiques de poc valor (iniciativa Essencial), la presa de decisions compartides i la participació per a la millora de serveis assistencials; així com als professionals que vulguin impulsar projectes per promoure un canvi cultural en aquests àmbits dins les seves organitzacions

Guia per a la implementació de projectes d’atenció sanitària basada en el valor

Atenció sanitària basada en el valor; Presa de decisions compartides; Serveis assistencialsAtención sanitaria basada en el valor; Toma de decisiones compartidas; Servicios asistencialesValue-based health care; Shared decision-making; Assistance servicesAquesta guia de recomanacions busca ser una inspiració i referència per a la implementació de projectes dins del marc d’atenció sanitària basada en el valor per involucrar professionals, pacients i cuidadors/es en: desimplementació de pràctiques de poc valor, presa de decisions compartides i millora de serveis assistencials

Research priorities for improving menstrual health across the life-course in low- and middle-income countries

Background: Research on menstrual health is required to understand menstrual needs and generate solutions to improve health, wellbeing, and productivity. The identification of research priorities will help inform where to invest efforts and resources. Objectives: To identify research priorities for menstrual health across the life-course, in consultation with a range of stakeholder groups from a variety of geographic regions, and to identify if menstrual health research priorities varied by expertise. Methods: A modified version of the Child Health and Nutrition Research Initiative approach was utilized to reach consensus on a set of research priorities. Multisector stakeholders with menstrual health expertise, identified through networks and the literature, were invited to submit research questions through an online survey. Responses were consolidated and individuals were invited to rank these questions based on novelty, potential for intervention, and importance/impact. Research priority scores were calculated and evaluated by participants’ characteristics. Results: Eighty-two participants proposed 1135 research questions, which were consolidated into 94 unique research questions. Mean number of questions did not differ between low- and middle-income (LMIC, N=30) and high-income county participants (HIC, N=52), but significantly more questions were raised by participants with expertise in mental health and WASH. Sixty-six participants then ranked these questions. The top ten-ranked research questions included four on ‘understanding the problem’, four on ‘designing and implementing interventions’, one on ‘integrating and scaling up’, and one on ‘measurement’. Indicators for the measurement of adequate menstrual health over time was ranked the highest priority by all stakeholders. Top ten ranked research questions differed between academics and non-academics, and between participants from HICs and LMICs, reflecting differences in needs and knowledge gaps. Conclusions: A list of ranked research priorities was generated through a consultative process with stakeholders across LMICs and HICs which can inform where to invest efforts and resources