Quality of life aspects of a low protein diet using GMP in patients with phenylketonuria

Objective: To assess some quality of life (QOL) aspects of a low protein diet, using glycomacropeptide (GMP) as a protein substitute in patients with phenylketonuria (PKU). Methods: This was a multicentre, prospective observational cohort, study. Metabolic control, nutritional parameters, and dietary adherence were assessed in patients with PKU before (T0), and six months after (T6) starting a low protein diet using GMP. Selected items from the PKUQOL questionnaire were used to assess patients’ acceptance of their modified diet. Results: 18 patients from three Italian Centres, completed the study. With the exception of LDL-cholesterol and vitamin 25OH-D concentrations, there were no differences between T0 and T6 in metabolic or nutritional parameters. Data suggested that patients have a good acceptance of protein substitutes containing GMP, probably because of their improved palatability. Conclusions: According to our patients’ responses to items related to dietary regimen, GMP based protein substitutes do not appear to significantly affect QOL

Stem Cell-Derived Human Striatal Progenitors Innervate Striatal Targets and Alleviate Sensorimotor Deficit in a Rat Model of Huntington Disease

Huntington disease (HD) is an inherited late-onset neurological disorder characterized by progressive neuronal loss and disruption of cortical and basal ganglia circuits. Cell replacement using human embryonic stem cells may offer the opportunity to repair the damaged circuits and significantly ameliorate disease conditions. Here, we showed that in-vitro-differentiated human striatal progenitors undergo maturation and integrate into host circuits upon intra-striatal transplantation in a rat model of HD. By combining graft-specific immunohistochemistry, rabies virus-mediated synaptic tracing, and ex vivo electrophysiology, we showed that grafts can extend projections to the appropriate target structures, including the globus pallidus, the subthalamic nucleus, and the substantia nigra, and receive synaptic contact from both host and graft cells with 6.6 ± 1.6 inputs cell per transplanted neuron. We have also shown that transplants elicited a significant improvement in sensory-motor tasks up to 2 months post-transplant further supporting the therapeutic potential of this approach

sj-pdf-1-imr-10.1177_03000605221125524 - Supplemental material for Quality of life aspects of a low protein diet using GMP in patients with phenylketonuria

Supplemental material, sj-pdf-1-imr-10.1177_03000605221125524 for Quality of life aspects of a low protein diet using GMP in patients with phenylketonuria by Giulia Bensi, Maria Teresa Carbone, Maria Cristina Schiaffino, Sara Parolisi, Angela Pozzoli, Giacomo Biasucci in Journal of International Medical Research</p

Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism

Inborn errors of metabolism (IEMs) represent a complex system model, in need of a shift of approach exploring the main factors mediating the regulation of the system, internal or external and overcoming the traditional concept of biochemical and genetic defects. In this context, among the established factors influencing the metabolic flux, i.e., diet, lifestyle, antibiotics, xenobiotics, infectious agents, also the individual gut microbiota should be considered. A healthy gut microbiota contributes in maintaining human health by providing unique metabolic functions to the human host. Many patients with IEMs are on special diets, the main treatment for these diseases. Hence, IEMs represent a good model to evaluate how specific dietary patterns, in terms of macronutrients composition and quality of nutrients, can be related to a characteristic microbiota associated with a specific clinical phenotype (“enterophenotype”). In the present review, we aim at reporting the possible links existing between dysbiosis, a condition reported in IEMs patients, and a pro-inflammatory status, through an altered “gut-liver” cross-talk network and a major oxidative stress, with a repercussion on the health status of the patient, increasing the risk of non-communicable diseases (NCDs). On this basis, more attention should be paid to the nutritional status assessment and the clinical and biochemical signs of possible onset of comorbidities, with the goal of improving the long-term wellbeing in IEMs. A balanced intestinal ecosystem has been shown to positively contribute to patient health and its perturbation may influence the clinical spectrum of individuals with IEMs. For this, reaching eubiosis through the improvement of the quality of dietary products and mixtures, the use of pre-, pro- and postbiotics, could represent both a preventive and therapeutic strategy in these complex diseases

NSCR_Dataset_2020

&lt;p&gt;The University of Turin (UniTO) released the open-access dataset NSCR_Dataset collected for the&nbsp; NEUROSTEMCELLREPAIR (602278) and NSC-Reconstruct (874758) European stem cell consortia for neural cell replacement, reprogramming and functional brain repair (602278)&nbsp; (https://www.nsc-reconstruct.com/en/index.do).&lt;/p&gt; &lt;p&gt;NSCR-Dataset is a dataset of analysis of histological ex-vivo brain samples and behavioral parameters from Huntington&#39;s Disease (HD) rat models, after cell replacement approach of striatal progenitor cells at the site of grafting - the striatum, at different time point (see for details at short time-points: https://www.sciencedirect.com/science/article/pii/S2213671120301089?via%3Dihub). The UniTO team released this dataset publicly.&lt;/p&gt; &lt;p&gt;The dataset contains images of brain tissue stained for different cellular and molecular markers, acquired with transmission and confocal microscopes, from which analysis were performed, and the behavioral data obtained every month by testing the HD animals in different motor tasks.&lt;/p&gt; &lt;p&gt;High-resolution images have been acquired; the images will be made available.&lt;/p&gt