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In six children, biotin produced changes in thyroid-function tests that mimic those seen in Graves' disease. To the Editor: Biotin is a water-soluble vitamin that is widely used in over-the-counter dietary supplements. 1 Apart from its administration in nutritional deficiency or nonmedical applications, biotin plays an important role in the therapy of several inherited metabolic diseases (e.g., biotin–thiamine–responsive basal ganglia disease and biotinidase deficiency). 2 , 3 Moreover, biotin is frequently used as a supportive treatment in patients with disorders of mitochondrial energy metabolism. In these patients, doses are considerably higher (2 to 15 mg per kilogram of body weight per day) than the dietary reference intake in children (5 to 25 μg per kilogram per day). 4 The amount . . .

The transition to electric vehicles (EVs) is hindered by the insufficient development of charging infrastructure (CI) networks, particularly in urban areas. The existing literature highlights significant advancements in highway CI modeling, yet urban-specific models remain underdeveloped, due to the complexity of diverse driver behaviors and evolving environmental factors. To address this gap, this study investigates the influence of urban sprawl on future urban CI demand. Using a vector field analysis methodology, we first define the urban environment to capture its heterogeneity. A conceptual framework is then developed to analyze how changes in urban environments affect critical factors influencing CI demand. The results demonstrate that urban sprawl significantly impacts key variables shaping CI demand, including population distribution, transportation patterns, and land use. To quantify these impacts, geospatial metrics are derived from highly cited literature and integrated into the analysis, offering a novel approach to incorporating sprawl effects into CI planning. This study concludes that urban sprawl has a profound influence on future CI demand and emphasizes the importance of monitoring geospatial metrics over time. The proposed methodology provides a theoretical framework that enables stakeholders to anticipate changes in CI demand, thereby facilitating more effective infrastructure planning to accommodate urban sprawl.

Despite the claim that blockchain will revolutionise business and redefine logistics, existing research so far is limited concerning frameworks that categorise blockchain application potentials and their implications. In particular, academic literature in transport and logistics to date has not sufficiently distinguished between blockchain adoption ('what to adopt') and the identification of the right business opportunity ('where to start'). In response, this paper (1) uses Rogers' (2003) 'attributes of innovation framework' to identify potential blockchain applications and (2) presents a framework explicating four transformation phases to subsequently categorise the identified areas of application according to their effects on organisational structures and processes. Using academic and practitioner literature, we classify possible applications for adoption and provide a framework to identify blockchain opportunities in the logistics industry, thereby helping managers to systematically assess where to start building organisational capabilities in order to successfully adopt and deploy blockchain-based technology.

Potential blockchain applications in logistics and transport (LSCM) have gained increasing attention within both academia and industry. However, as a field in its infancy, blockchain research often lacks theoretical foundations, and it is not clear which and to what extent organizational theories are used to investigate blockchain technology in the field of LSCM. In response, based upon a systematic literature review, this paper: (a) identifies the most relevant organizational theories used in blockchain literature in the context of LSCM; and (b) examines the content of the identified organizational theories to formulate relevant research questions for investigating blockchain technology in LSCM. Our results show that blockchain literature in LSCM is based around six organizational theories, namely: agency theory, information theory, institutional theory, network theory, the resource-based view and transaction cost analysis. We also present how these theories can be used to examine specific blockchain problems by identifying blockchain-specific research questions that are worthy of investigation.

Background Up to now, only limited data on long-term medical treatment in congenital hyperinsulinism (CHI) is available. Moreover, most of the drugs used in CHI are therefore not approved. We aimed to assemble more objective information on medical treatment in CHI with regard to type and duration, dosage as well as side effects. Methods We searched MEDLINE (from 1947) and EMBASE (from 1988) using the OVID interface for relevant data to evaluate medical treatment in a large cohort of patients with CHI from different clinical centers. Randomized, controlled trials were not available. We evaluated case reports and case series. No language restrictions were made. Results A total number of 619 patients were medically treated and information regarding conservative treatment was available. Drugs used were diazoxide (in 84 % of patients), somatostatin analogues (16 %), calcium channel antagonists (4 %) and glucagon (1 %). Mean dose of diazoxide was 12.5 (±4.3) mg/kg ⋅ d (range 2–60 mg/kg ⋅ d), mean duration of diazoxide treatment until remission was 57 months. Side effects of diazoxide were usually not severe. The causal relation between diazoxide and severe side effects, e.g. heart failure (3.7 %) remains doubtful. Mean dose of octreotide was 14.9 (±7.5) μg/kg ⋅ d (range 2.3–50 μg/kg ⋅ d), of lanreotide 67.3 (±39.8) mg ⋅ month (range 10–120 mg ⋅ month). Mean duration of treatment with somatostatin analogues until remission was 49 months. Frequent side effects included tachyphylaxis and mild gastrointestinal symptoms. The risk of persistent growth deceleration was low (<5 %). Conclusions Severe side effects are rare and a causal relation remains disputable. We conclude that long-term conservative treatment of CHI is feasible.

Automotive manufacturers are competing to be the first to introduce customer-ready autonomous vehicles. Some manufacturers are claiming to launch their first self-driving cars as early as 2020. Which all sounds very good and futuristic; however, the question arises, are customers even ready to adopt this new technological advancement? Therefore, this pilot study is aimed at finding out the answer to this question in the Austrian market. This study discovers the standpoint of Austrian consumers concerning the acceptance of self-driving cars for daily usage and gives an overview of the current point of view regarding autonomous vehicles (AVs). The data for this study was collected using an online, user-friendly, Likert scale survey. The collected data were processed and analyzed for empirical significance in SPSS using Spearman's rank correlation and the Mann-Whitney U test supported by descriptive analysis. The results of the study indicate that Austrian consumers are well aware of autonomous vehicles and their technology. However, they have specific concerns about reliability, cybersecurity, and futuristic car-sharing models. Therefore, these concerns about AVs should be addressed by auto manufactures in order to gain consumers' trust and sell them a new form of mobility.

Courier, express, and parcel (CEP) services represent one of the most challenging and dynamic sectors of the logistics industry. Companies of this sector must solve several challenges to keep up with the rapid changes in the market. In this context, the introduction of autonomous delivery using self-driving trucks might be an appropriate solution to overcome the problems that the industry is facing today. This paper investigates if the introduction of autonomous trucks would be feasible for deliveries in urban areas from the experts' point of view. Furthermore, the potential advantages of such autonomous vehicles were highlighted and compared to traditional delivery methods. At the same time, barriers that could slow down or hinder such an implementation were also discovered by conducting semi-structured interviews with experts from the field. The results show that CEP companies are interested in innovative logistics solutions such as autonomous vans, especially when it comes to business-to-consumer (B2C) activities. Most of the experts acknowledge the benefits that self-driving vans could bring once on the market. Despite that, there are still some difficulties that need to be solved before actual implementation. If this type of vehicle will become the sector's disruptor is yet to be seen.

Background Hypoketotic hypoglycaemia with suppressed plasma fatty acids and detectable insulin suggests congenital hyperinsulinism (CHI). Severe hypoketotic hypoglycaemia mimicking hyperinsulinism but without detectable insulin has recently been described in syndromic individuals with mosaic genetic activation of post-receptor insulin signalling. We set out to expand understanding of this entity focusing on metabolic phenotypes. Methods Metabolic profiling, candidate gene and exome sequencing were performed in six infants with hypoketotic, hypoinsulinaemic hypoglycaemia, with or without syndromic features. Additional signalling studies were carried out in dermal fibroblasts from two individuals. Results Two infants had no syndromic features. One was mistakenly diagnosed with CHI. One had mild features of megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, one had non-specific macrosomia, and two had complex syndromes. All required intensive treatment to maintain euglycaemia, with CHI-directed therapies being ineffective. Pathogenic PIK3CA variants were found in two individuals – de novo germline c.323G>A (p.Arg108His) in one non-syndromic infant and postzygotic mosaic c.2740G>A (p.Gly914Arg) in the infant with MCAP. No causal variants were proven in the other individuals despite extensive investigation, although rare variants in mTORC components were identified in one. No increased PI3K signalling in fibroblasts of two individuals was seen. Conclusions We expand the spectrum of PI3K-related hypoinsulinaemic hypoketotic hypoglycaemia. We demonstrate that pathogenic germline variants activating post-insulin-receptor signalling may cause non-syndromic hypoinsulinaemic hypoketotic hypoglycaemia closely resembling CHI. This distinct biochemical footprint should be sought and differentiated from CHI in infantile hypoglycaemia. To facilitate adoption of this differential diagnosis, we propose the term “pseudohyperinsulinism”.

IntroductionAlthough neonatal hypoglycaemia is the most common metabolic problem in neonates, there is no standard guideline for screening. Additionally, treatment of neonatal hypoglycaemia and glucose administration thresholds are discussed controversially. Severe hypoglycaemia can lead to brain damage, but data on the effects of mild hypoglycaemia on neurological development are limited. To our knowledge, this is the first prospective longitudinal cohort study to analyse if the implementation of a new diagnosis and treatment standard for neonatal hypoglycaemia may improve the outcome of neonates at risk for hypoglycaemia, especially concerning neurodevelopment. Furthermore, the acceptance and feasibility of the standard among different professional groups and parents are analysed.Methods and analysisAfter implementation of a structured standard operating procedure (SOP), detailing preventive measures, blood glucose screening and neonatal hypoglycaemia treatment in a tertiary care hospital, 678 neonates ≥35+0 weeks of gestation will be recruited in a monocentric prospective cohort study. For comparison, 139 children born before the implementation of this new SOP, who had risk factors for neonatal hypoglycaemia or qualified for blood glucose measurements are recruited (retrospective cohort). For the primary end point, comparative analyses between and within the prospective and retrospective cohorts will be performed regarding the neurological outcome at 2–2.5 years of age in Bayley Scales of Infant Development. Furthermore, comprehensive clinical data and data on nutrition and developmental milestones are assessed at different time points (6 weeks, 6, 12, 18 and 24 months) in the prospective cohort. Acceptance and feasibility of the new standard are assessed using questionnaires.Ethics and disseminationThe study has been approved by the Ethics Committee of the Medical Faculty of the Heinrich-Heine-University Düsseldorf (20201162). The results of this study will be disseminated through peer-reviewed journals and presented at international conferences.Trial registration numberDRKS00024086.

Background Individuals with maturity‐onset diabetes of the young (MODY) are often misdiagnosed as type 1 or type 2 diabetes and receive inappropriate care. We aimed to investigate the characteristics and treatment of all MODY types in a multicenter, real‐world setting. Methods Individuals with MODY from the diabetes prospective follow‐up (DPV) registry were studied. We compared clinical parameters during the first year of diabetes and the most recent treatment year after MODY diagnosis. Results A total of 1640 individuals were identified with GCK‐MODY (n = 941) and HNF1A‐MODY (n = 417) as the most frequent types. Among these, 912 individuals were available with information during the first and the most recent treatment year (median duration of follow‐up: 4.2 years [2.6–6.6]). Positive beta cell autoantibodies were present in 20.6% (15.2% IAA). Median age at diagnosis ranged from 9.9 years in GCK‐MODY (Q1–Q3: 6.2–13.1 years) and INS‐MODY (2.7–13.7 years) to 14.3 years (5.0–17.1) in KCNJ11‐MODY. Frequency of oral antidiabetic agents (OAD) use increased and insulin decreased in HNF4A‐MODY (OAD: 18% to 39%, insulin: 34% to 23%) and in HNF1A‐MODY (OAD: 18% to 31%, insulin: 35% to 25%). ABCC8‐MODY was characterized by a decrement in nonpharmacological treatment (26% to 16%) and “insulin only” treatment (53% to 42%), while the proportion of individuals treated with OAD but no insulin increased from 0% to 21%. Conclusions Our results indicate that some teams caring for individuals with MODY are hesitant with regard to current recommendations. Registries are an essential source of information and provide a basis for discussing treatment guidelines for MODY. Highlights A total of 1640 individuals representing all of the 14 identified MODY subtypes were included. MODY accounted for 0.2% of children, adolescents, and adults with diabetes in DPV. As of today, not all physicians and individuals with MODY are familiar with current treatment recommendations so far. Registries are an important source for representing rare diabetes types and provide a basis for discussing treatment guidelines for individuals with MODY.