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Abstract The implementation and potential of ketogenic dietary therapies (KDTs) have changed over time. The organization of KDT services, the availability of multidisciplinary teams, resources and support for patients and families still vary widely around the world. This diversity is reflected by a lack of consistency in reported outcomes, optimization of using KDT and KDT compliance. To highlight the unmet needs for KDT services, the ERN EpiCARE Ketogenic Dietary Therapy Special Interest Group (KDT SIG) conducted an online survey on KDT implementation and utilization, addressing the following topics: Use and completeness of guidelines and protocols; assessment of compliance and outcome parameters, sustainability and inclusivity in daily life. Consistently reported unmet needs included the lack of psychological support and resources to measure and improve adherence to KDT, the lack of inclusion strategies, and shared guidelines and protocols adapting to specific needs. Future interventions should focus primarily on educational and informative measures together with creation of shared protocols for complex care. Plain Language Summary This study provides the results of a survey compiled by clinicians and patients representatives belonging to ERN Epicare, designed to unravel unmet needs from both patients' and healthcare practitioners' perspectives during ketogenic dietary therapies (KDT) provision. Importantly, results show the need to create new shared protocols and guidelines meant for KDT use in complex care situations and to develop future strategies initiatives to support patients improving their social inclusivity.

Abstract The Space–Time Accessibility (STA) model is broadly used to measure person-based accessibility based on the space, time, and transport constraints experienced at the individual level in connection to the actual modal choices of observed individuals. In this paper, we propose to adjust the STA model (by introducing a so-called PT-STA model) with three core purposes: (1) focusing on public transport accessibility specifically, (2) measuring accessibility to both fixed activities and discretionary opportunities, and (3) integrating travel-time thresholds in the accessibility measurement. These three elements aim to make the PT-STA model a suitable tool to evaluate the impacts of public transport interventions on person-based accessibility and extend the evaluation of public transport accessibility to its fixed and discretionary dimensions. The PT-STA model is tested with a sample of 118 residents of the rural municipality of Mühlwald (South Tyrol, Italy). Results show that the accessibility to fixed activities and discretionary opportunities are limitedly correlated. It is possible to identify people with high accessibility to fixed activities and poor access to discretionary opportunities (typically pensioners and homemakers living in remote locations) and vice versa (e.g. people with articulated rural–urban commutes but daily visiting locations with several amenities). These results preliminarily confirm the importance of combining both accessibility dimensions in the PT-STA model since they tell complementary and not overlapped stories that are relevant for policymakers to evaluate the pros and cons of alternative public transport interventions.

Rural areas typically register low accessibility. This fact negatively affects their attractiveness, the well-being of their population in general, and population subgroups with limited access to private cars or strong space-time constraints (like minors, the elderly or members of large households). Collective autonomous vehicles (AVs) might improve this situation, e.g. by enhancing standard line-based services or introducing alternative shared schemes. Nevertheless, the collective usage of AVs in rural transport and their potential impacts on accessibility are still underexplored, with most research focused on the urban context. This study aims to fill this gap by analysing the public transport accessibility impacts that five alternative AV supply scenarios might generate in the rural valley of Mühlwald (South Tyrol, Italy). To this end, a variant of the standard space-time accessibility model developed by the authors is used. This focuses on accessibility by public transport specifically, and measures it to both fixed activities and discretionary opportunities. Accessibility impacts are first estimated at the person-based level for a sample of residents. Then, they are aggregated for the whole sample and six subgroups that tend to experience more substantial accessibility issues based on the literature. Results show that line-based AV applications provide limited accessibility benefits. Conversely, time-flexible applications like ride-shared vans or combinations of line-based trunks and on-demand feeders over peak and off-peak hours may provide the most evident advantages, especially for the subgroups with the tightest space-time schedules. Although these results do not reflect other possible impacts of AVs (e.g. environmental effects), they provide policymakers with valuable insights into the collective AV usages that could be most suitable in the rural context regarding person-based accessibility gains.

A stepwise increase in the utilization of ketogenic dietary therapies for drug-resistant epilepsy has been observed in Italy in the last decade, although it is still considered often underused in many centers when compared to other countries. The Dietary Therapy Study Group of the Italian League against Epilepsy proposes practical recommendations to improve shared knowledge and facilitate the application of ketogenic dietary therapies, optimizing its efficacy and tolerability. The experts involved (11 child neuropsychiatrists, two adult neurologists, one psychologist, one pharmacologist, one pediatric endocrinologist, one representative of patients' associations, and three dietitians and clinical nutritionists) responded to a survey on current clinical practice issues and were asked to discuss controversial topics related to supplementation, long-term maintenance, transition, and a multidisciplinary approach to ketogenic dietary therapies. Practical indications for patient selection, diet initiation, management, side effects prevention, and follow-up are provided.

The implementation and potential of ketogenic dietary therapies (KDTs) have changed over time. The organization of KDT services, the availability of multidisciplinary teams, resources and support for patients and families still vary widely around the world. This diversity is reflected by a lack of consistency in reported outcomes, optimization of using KDT and KDT compliance. To highlight the unmet needs for KDT services, the ERN EpiCARE Ketogenic Dietary Therapy Special Interest Group (KDT SIG) conducted an online survey on KDT implementation and utilization, addressing the following topics: Use and completeness of guidelines and protocols; assessment of compliance and outcome parameters, sustainability and inclusivity in daily life. Consistently reported unmet needs included the lack of psychological support and resources to measure and improve adherence to KDT, the lack of inclusion strategies, and shared guidelines and protocols adapting to specific needs. Future interventions should focus primarily on educational and informative measures together with creation of shared protocols for complex care. Plain Language Summary: This study provides the results of a survey compiled by clinicians and patients representatives belonging to ERN Epicare, designed to unravel unmet needs from both patients' and healthcare practitioners' perspectives during ketogenic dietary therapies (KDT) provision. Importantly, results show the need to create new shared protocols and guidelines meant for KDT use in complex care situations and to develop future strategies initiatives to support patients improving their social inclusivity. [ABSTRACT FROM AUTHOR]

Introduction: Biotinidase deficiency (BD) is an autosomal recessive disease causing a defect in the biotin-releasing enzyme. Newborn screening (NBS) allows early diagnosis and treatment, ensuring excellent prognosis. The aim of this study was to describe our experience in the diagnosis, treatment, and follow-up showing key strategies and unsolved questions of the management of BD patients.Methods: We analyzed data of patients identified by the Regional Centre for Newborn Screening of Verona and followed by the Inherited Metabolic Disease Unit of Verona and Neonatal Intensive Care Unit of Bolzano, Italy, from 2014 to 2020.Results: Thirty-seven patients were diagnosed by NBS (five profound and 32 partial BD), with a total incidence of 1:5,996. All were started on biotin at diagnosis and presented no symptoms at follow-up. Analysis of parents and siblings led to identification of five asymptomatic patients with partial BD: one asymptomatic parent and four young siblings. Genetic analysis of the BTD gene identified 17 different genotypes and one mutation not previously known.Discussion: Our data confirm that NBS introduction had a dramatic impact on BD diagnosis, and the incidence has increased significantly compared to other areas. Partial defects are more common than profound and have a distinctive genotype. Partial BD treatment is still controversial even at what dose of biotin and for how long. At the end, BD treatment is very easy and inexpensive and prevents severe neurological damage. Sharing experiences is essential to achieving guidelines for treatment and follow-up and a better genotype–phenotype correlation.

Accessibility differences across individuals are a core topic in the transport equity debate. Space-Time Accessibility measures (STAs) have often been used to show such differences, given their sensitiveness to individual spatial and temporal constraints. However, given their complexity, STAs cannot properly isolate the specific role of the transport system in individual accessibility differences, since it is mixed with several other spatial, individual and temporal factors. To isolate the role of the transport system, this study introduces a Space-Time Transport Performance measure (STTP) that (a) grounds on the individual daily schedule of fixed activities, (b) calculates the generalised transport costs each individual has to bear to perform such schedule, and (c) weights it against the Euclidean distance between the activities of such a schedule. STTP is tested together with STA for a small sample of individuals living and performing their daily activities within the 22nd district of Vienna. This test provides two main findings: first, individual differences registered by STTP tend to be smaller than those highlighted by STA, according to the former’s more narrowed and transport-specific approach. Second, individuals with the highest STA do not necessarily register the highest STTP (and vice versa). Indeed, some may experience limited transport performances when running their mandatory daily schedule, while registering a high degree of access to discretionary activities according to their constraints and opportunities at disposal (and vice versa). Considering these results, STTP may be seen as a complementary indicator to be used together with STA to analyse both general and transport-specific individual accessibility differences. Its role is particularly important for transport policy makers, who should understand which accessibility differences are directly linked to the performances of the transport system and could be remediated through transport policies.

Introduction: Mitochondrial fatty acid oxidation disorders (FAODs) are a heterogeneous group of hereditary autosomal recessive diseases included in newborn screening (NBS) program in Italy. The aim of this study was to analyse FAODs cases, identified either clinically or by NBS,for clinical and genetic characterization and to evaluate a five years' experience of NBS, in the attempt to figure out the complexity of genotype-phenotype correlation and to confirm the clinical impact of NBS in our centre experience. Materials and methods: We analysed FAODs patients diagnosed either by NBS or clinically, followed since February 2014 to April 2019 at the Regional Screening Centre and Inherited Metabolic Diseases Unit of Verona. Diagnosis was confirmed by plasma acylcarnitines, urinary organic acids, enzymatic and genetic testing. For not clear genotypes due to the presence of variants of uncertain significance, in silico predictive tools have been used as well as enzymatic activity assays. Patients underwent clinical, nutritional and biochemical follow up. Results: We diagnosed 30 patients with FAODs. 20 by NBS: 3 CUD, 6 SCADD, 5 MCADD, 4 VLCADD, 2 MADD. Overall incidence of FAODs diagnosed by NBS was 1:4316 newborns. No one reported complications during the follow up period. 10 patients were diagnosed clinically: 2 CUD, 2 CPT2D, 1 VLCADD, 5 MADD. Mean age at diagnosis was 29.3 years. Within this group, complications or symptoms were reported at diagnosis, but not during follow-up. 12 mutations not previously reported in literature were found, all predicted as pathogenic or likely pathogenic. Discussion and conclusions: Our study highlighted the great phenotypic variability and molecular heterogeneity of FAODs and confirmed the importance of a tailored follow up and treatment. Despite the short duration of follow up, early identification by NBS prevented diseases related complications and resulted in normal growth and psycho-motor development as well.

This paper investigates the sugarcane bagasse pyrolysis for bio-oil and biochar production in a pilot plant that was designed to perform the gasification process. After some modifications of changing the temperature of fluidized bed reactor and the catalytic reforming reactor, the fast pyrolysis process was performed at 500–600 °C using a fluidized bed reactor (air flow rate: 20–70 L.min-1) under atmospheric pressure, with sugarcane bagasse feeding (2–3.5 kg.h-1) with particles size less than 1.18 mm. Fluidization tests were performed with air feed (oxidative pyrolysis), to guarantee the fluidization is occurring, finding that the minimum fluidization rate was 22 L.min-1 (minimum velocity of gas: 6.3 cm.s-1). The residence time was 7 seconds (ratio between empty reactor volume by fluidizing gas flow). The highest bio-oil yield of 7.43 wt. % was obtained at 500 °C, with a bagasse flow rate of 3.5 kg.h-1 and 25.93 L.min-1 of air flow rate, and this low yield can be explained by the inefficient heat exchanger used. On the other hand, biochar yield achieved 35.88 wt. % using a temperature of 570 °C, 3.1 kg.h-1 of bagasse flow rate, and 28.26 L.min-1 of air flow rate. Considering this pilot plant has never operated in a pyrolysis mode, these results demonstrate that pyrolysis can be applied to this pilot plant, being versatile for different types of processes with a great potential for biochar and bio-oil production besides the high gas production.

Goal: Propose hybrid heuristics combining VNS and Tabu Search (TS) for adding adaptability to University Course Timetabling Problem (UCTTP) resolution. Design / Methodology / Approach: VNS and TS metaheuristics were used isolated and in combination in order to verify which shape acquired the best solutions. Those heuristics were verified using constraints found at two undergraduate courses of Federal Fluminense University. Effectiveness is verified by comparing them with solutions manually elaborated by undergraduate course coordinators. Results: The computational results showed the efficiency of the hybrid VNS-TS heuristics, with emphasis on the heuristic VNS-TS1, which uses tabu search as local search method. Practical implications: The hybrid heuristic VNS-TS1 has been in use since the first half of 2019 by some of UFF undergraduate courses coordinations. Even though each university has specific constraints on its timetable, the use of the proposed heuristics is possible because it has been developed using the framework FINESS that allows for the easy insertion and removal of constraints. Originality / Value: We have the following innovative contributions: Development of heuristics with a high degree of adaptation to the needs of educational institutions; Two proposed VNS-TS heuristics; Proposed VND-TS improvement method.

Abstract Background In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Although the need for an emergency regimen to avoid metabolic decompensation is well established at times of illness, there is uncertainty about the need for other dietary management strategies such as sucrose or fructose restriction. We assessed international differences in the dietary management of FBPase deficiency. Methods A cross-sectional questionnaire (13 questions) was emailed to all members of the Society for the Study of Inborn Errors of Metabolism (SSIEM) and a wide database of inherited metabolic disorder dietitians. Results Thirty-six centres reported the dietary prescriptions of 126 patients with FBPase deficiency. Patients’ age at questionnaire completion was: 1-10y, 46% (n = 58), 11-16y, 21% (n = 27), and >16y, 33% (n = 41). Diagnostic age was: 16y, 2% (n = 2). Seventy-five per cent of centres advocated dietary restrictions. This included restriction of: high sucrose foods only (n = 7 centres, 19%); fruit and sugary foods (n = 4, 11%); fruit, vegetables and sugary foods (n = 13, 36%). Twenty-five per cent of centres (n = 9), advised no dietary restrictions when patients were well. A higher percentage of patients aged >16y rather than ≤16y were prescribed dietary restrictions: patients aged 1-10y, 67% (n = 39/58), 11-16y, 63% (n = 17/27) and >16y, 85% (n = 35/41). Patients classified as having a normal fasting tolerance increased with age from 30% in 1-10y, to 36% in 11-16y, and 58% in >16y, but it was unclear if fasting tolerance was biochemically proven. Twenty centres (56%) routinely prescribed uncooked cornstarch (UCCS) to limit overnight fasting in 47 patients regardless of their actual fasting tolerance (37%). All centres advocated an emergency regimen mainly based on glucose polymer for illness management. Conclusions Although all patients were prescribed an emergency regimen for illness, use of sucrose and fructose restricted diets with UCCS supplementation varied widely. Restrictions did not relax with age. International guidelines are necessary to help direct future dietary management of FBPase deficiency.

Propionic Acidemia (PA) is a rare inherited metabolic disorder caused by the enzymatic block of propionyl-CoA carboxylase with the consequent accumulation of propionic acid, which is toxic for the brain and cardiac cells. Since a considerable amount of propionate is produced by intestinal bacteria, interest arose in the attempt to reduce propionate-producing bacteria through a monthly antibiotic treatment of metronidazole. In the present study, we investigated the gut microbiota structure of an infant diagnosed at 4 days of life through Expanded Newborn Screening (NBS) and treated the child following international guidelines with a special low-protein diet, specific medications and strict biochemical monitoring. Microbiota composition was assessed during the first month of life, and the presence of Bacteroides fragilis, known to be associated with propionate production, was effectively decreased by metronidazole treatment. After five antibiotic therapy cycles, at 4 months of age, the infant was supplemented with a daily mixture of three bifidobacterial strains, known not to be propionate producers. The supplementation increased the population of bifidobacteria, with Bifidobacterium breve as the dominating species; Ruminococcus gnavus, an acetate and formate producer, was also identified. Metabarcoding analysis, compared with low coverage whole metagenome sequencing, proved to capture all the microbial biodiversity and could be the elected tool for fast and cost-effective monitoring protocols to be implemented in the follow up of rare metabolic disorders such as PA. Data obtained could be a possible starting point to set up tailored microbiota modification treatment studies in the attempt to improve the quality of life of people affected by propionic acidemia.

Background: The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance. Aim: To describe European dietary practices in the management of patients with PA prior to the publication of the European PA guidelines. Methods: This was a cross-sectional survey consisting of 27 questions about the dietary practices in PA patients circulated to European IMD dietitians and health professionals in 2014. Results: Information on protein restricted diets of 186 PA patients from 47 centres, representing 14 European countries was collected. Total protein intake [PA precursor-free L-amino acid supplements (PFAA) and natural protein] met WHO/FAO/UNU (2007) safe protein requirements for age in 36 centres (77%). PFAA were used to supplement natural protein intake in 81% (n = 38) of centres, providing a median of 44% (14–83%) of total protein requirement. Seventy-four per cent of patients were prescribed natural protein intakes below WHO/FAO/UNU (2007) safe levels in one or more of the following age groups: 0–6 m, 7–12 m, 1–10 y, 11–16 y and >16 y. Sixty-three per cent (n = 117) of patients were tube fed (74% gastrostomy), but only 22% received nocturnal feeds. Conclusions: There was high use of PFAA with intakes of natural protein commonly below WHO/FAO/UNU (2007) safe levels. Optimal dietary management can only be determined by longitudinal, multi-centre, prospective case controlled studies. The metabolic instability of PA and small patient cohorts in each centre ensure that this is a challenging undertaking.

Background: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. Aim: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). Methods: A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53). The questionnaire comprised 27 questions about the dietary management of IVA. Results: Information on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed. Conclusions: This survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability.

This study aimed to produce and characterize edible biofilms based on whey protein isolate (WPI). Two formulations were prepared: (1) without and (2) with probiotic Lactobacillus casei. Subsequently, the effect of the biofilms as a fruit cover on the characteristics of Cherry tomatoes and Thompson grapes was evaluated. The films (with or without probiotic culture) were transparent, malleable, homogeneous, continuous and without cracking. In the infrared spectroscopy, characteristic bands of the N-H bonds (protein structure), the amide bonds (1640 to 1560 cm -1) and the C = O and C-N bands were observed. The addition of the probiotic culture had no effect on the density (1.272-1.303 g/cm3) and water vapor permeation (0.28-0.35 g.mm/m2.day.kPa) of the films. However, the film containing probiotic culture was yellowish, thicker (16.18 vs 13.15 µm), more soluble (42.8 vs 34.8%), had higher resistance (higher tensile strength, 23.3 vs 12.6 N) and was less flexible (lower elongation at break, 5.27 vs 45.4%). Scanning Electron Microscopy images evidenced that the probiotic biofilm presented agglomerates in all superficial extension and a higher number of orifices. The L. casei remained viable (5.70 to 7.77 log cfu/g) throughout the storage period of the films (25 oC/28 days), however, recommended counts (> 6 log cfu/g) were observed up to the 14th day. The application of the films did not result in positive impact on the shelf life of the tomatoes but reduced the mass loss and TSS of grapes. The application of the film with probiotic culture resulted in lower TSS values in tomatoes and grapes and higher mass loss in grapes. It can be concluded that the use of WPI originated films with suitable characteristics and could increase the shelf life of grapes. The addition of L. casei resulted in alterations on the mechanical properties of the films and suitable probiotic counts for 14 days, with positive effect on the ripening process of the tomatoes and grapes (lower TSS values).

Goal: to propose a hybrid method, combining AHP and Fuzzy, for project portfolio management. Originality/value: this paper meets the positive characteristics of both methods, adequately weighing the criteria and contemplating process subjectivity. Limitations that exist in both methods, such as the maximum number of alternatives and the difficulty of inserting new alternatives at the end of the process, are overcome. Design/methodology/approach: the AHP is applied for determining the criteria weights and fuzzy is used to compare the alternatives for each criterion. Results: the results show that the proposed hybrid method allows the ranking of many alternatives and provides higher reliability for decision makers. It must be noted that the system is fed by performance indicators, which minimize the subjectivity in decision-making—an important characteristic in the technology management. Moreover, the results provide the possibility of changing the number of projects at any time without influencing the outcome. Practical implications: the proposed hybrid method can be used in different problems that have many alternatives or subjectivity.

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