The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases resulting in neurological impairment at any age from newborn to adulthood. METHODS AND RESULTS: The International Working Group on Neurotransmitter related Disorders (iNTD) is the first international network focusing on the study of primary and secondary neurotransmitter disorders. It was founded with the aim to foster exchange and improve knowledge in the field of these rare diseases. The newly established iNTD patient registry for neurotransmitter related diseases collects longitudinal data on the natural disease course, approach to diagnosis, therapeutic strategies, and quality of life of affected patients. The registry forms the evidence base for the development of consensus guidelines for patients with neurotransmitter related disorders. CONCLUSION: The iNTD network and registry will improve knowledge and strengthen research capacities in the field of inborn neurotransmitter disorders. The evidence-based guidelines will facilitate standardized diagnostic procedures and treatment approaches

Novel low resistivity glass: MRPC detectors for ultra high rate applications

Abstract Multigap Resistive Plate Chambers (MRPCs) are often used as time-of-flight (TOF) detectors for high-energy physics and nuclear experiments thanks to their excellent time accuracy. For the Compressed Baryonic Matter (CBM) TOF system, MRPCs are required to work at particle fluxes on the order of 1-10 kHz/ c m 2 for the outer region and 10-25 kHz/ c m 2 for the central region. Better time resolution will allow particle identification with TOF techniques to be performed at higher momenta. From our previous studies, a time resolution of 25 ps has been obtained with a 20-gap MRPC of 140 μ m gap size with enhanced rate capbability. By using a new type of commercially available thin low-resistivity glass, further improvement MRPC rate capability is possible. In order to study the rate capability of the 10-gap MRPC built with this new low-resistivity glass, we have performed tests using the continuous electron beam at ELBE. This 10-gap MRPC, with 160 μ m gaps, reaches 97% efficiency at 19.2 kV and a time resolution of 36 ps at particle fluxes near 2 kHz/ c m 2 . At a flux of 100 kHz/ c m 2 , the efficiency is still above 95% and a time resolution of 50 ps is obtained, which would fulfil the requirement of CBM TOF system

Food loss and waste metrics: a proposed nutritional cost footprint linking linear programming and life cycle assessment

Purpose: The main purpose of this article is to assess the nutritional and economic efficiency of food loss and waste (FLW) along the supply of 13 food categories included in the Spanish food basket by means of the definition of a new method which combines two indexes. Methods: The nutrient-rich foods index and the economic food loss and waste (EFLW) index were combined by means of linear programming to obtain the nutritional cost footprint (NCF) indicator under a life cycle perspective. The functional unit used was the daily supply of food for a Spanish citizen in year 2015. Results and discussion: Results showed that vegetables and cereals were the food categories most affected by the inefficiencies in the food supply chain under a nutritional perspective, being agricultural production and household consumption the main stages in which the nutritional content of food is lost or wasted. Moreover, according to the NCF index, vegetables represented 27% of total nutritional-economic wastage throughout the entire Spanish agri-food chain. They are followed by fruits, which add up to 19%. Hence, specific food waste management strategies should be established for these specific products and supply stages. Finally, the sensitivity analysis performed highlighted that results were mostly independent from the importance attributed to either nutritional or economic variables. Conclusions: The methodology described in this study proposes an indicator quantifying the nutritional-economic cost of different food categories in the Spanish food basket. This NCF indicator makes it possible to define reduction strategies to promote the use of food waste fractions for waste-to-energy valorization approaches or the extraction of different types of pharmacological, chemical, or cosmetic compounds.The authors are grateful for the funding of the Spanish Ministry of Economy and Competitiveness through the Ceres-Procom: Food production and consumption strategies for climate change mitigation (CTM2016-76176-C2-1-R) (AEI/FEDER, UE)

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Background: Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH4 deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. Early supplementation of neurotransmitter precursors and where appropriate, treatment of HPA results in significant improvement of motor and cognitive function. Management approaches differ across the world and therefore these guidelines have been developed aiming to harmonize and optimize patient care. Representatives of the International Working Group on Neurotransmitter related Disorders (iNTD) developed the guidelines according to the SIGN (Scottish Intercollegiate Guidelines Network) methodology by evaluating all available evidence for the diagnosis and treatment of BH4 deficiencies. Conclusion: Although the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH4 deficient patients

Recovery of release cloud from laser shock-loaded graphite and hydrocarbon targets: in search of diamonds

This work presents first insights into the dynamics of free-surface release clouds from dynamically compressed polystyrene and pyrolytic graphite at pressures up to 200 GPa, where they transform into diamond or lonsdaleite, respectively. These ejecta clouds are released into either vacuum or various types of catcher systems, and are monitored with high-speed recordings (frame rates up to 10 MHz). Molecular dynamics simulations are used to give insights to the rate of diamond preservation throughout the free expansion and the catcher impact process, highlighting the challenges of diamond retrieval. Raman spectroscopy data show graphitic signatures on a catcher plate confirming that the shock-compressed PS is transformed. First electron microscopy analyses of solid catcher plates yield an outstanding number of different spherical-like objects in the size range between ten(s) up to hundreds of nanometres, which are one type of two potential diamond candidates identified. The origin of some objects can unambiguously be assigned, while the history of others remains speculative