The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan. Acute clinical signs include intermittent episodes of vomiting, confusion or coma and hepatitis-like attacks. Alternatively, patients show a chronic course with aversion for protein rich foods, developmental delay/intellectual disability, myoclonic seizures, ataxia and pyramidal dysfunction. HHH syndrome is caused by impaired ornithine transport across the inner mitochondrial membrane due to mutations in SLC25A15 gene, which encodes for the mitochondrial ornithine carrier ORC1. The diagnosis relies on clinical signs and the peculiar metabolic triad of hyperammonemia, hyperornithinemia, and urinary excretion of homocitrulline. HHH syndrome enters in the differential diagnosis with other inherited or acquired conditions presenting with hyperammonemia

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

From 1999 to date, 50 affecting function variants have been identified and associated to HHH syndrome [1–5]. As it is not available in the literature a complete up-to-date list of disease-causing variants for SLC25A15 gene, we included this information as a Supplementary Excel sheet (See Supplementary Material File #1): this list was created by using LOVD and ClinVar databases and liked to the relevant literature reference. Reported variants consist of: 29 missense variants, 4 frameshift, 11 nonsense, 2 splicing, 2 small deletion, 1 in frame insertion, 1 gross deletion

Sustainable Warehouse Logistics: a NIP Model for non-road vehicles and storage configuration selection

In modern competitive market, logistics plays a key role in creating competitive advantage and profitability. In recent years, many firms adopted green supply chain practices (GSCP) in order to improve their environmental performances while also achieving economic goals (Wu et al. 2015). According to European Logistics Association (ELA/AT Kearney 2004), the warehousing activity contributes to about 20% of the total logistics costs. The adoption of sustainable warehouse logistic strategies could lead to achieve a significant reduction of time and costs required to perform internal logistics activities and to increase the environmental performances of logistics systems. Order picking is the most labour-intensive, costly, and energy-consuming activity for almost every warehouse. Depending on the particular application, the process can be designed and managed in order to minimize the throughput time for an order, or maximize the use of the space, or maximize the accessibility to all items, etc. Many different order picking system types are adopted in warehouses. In most cases workers are employed for these activities, in particular in the picker-to-parts systems (De Koster 2004), where the operator (order picker) drives a forklift along the aisles to retrieve items. The aim of this study is to develop a non-linear integer model allowing identifying a strategy, based on picker-to-parts system, with the goal of optimizing the environmental performance of the internal logistic activities in the warehouse. Suitable storage strategies are identified on the basis of the type of the forklifts adopted (internal combustion or electric engine equipped) and the type of storage configuration adopted (storage racks or stackable units)

Optimal job rotation scheduling under productivity and ergonomic risk constraints in assembly lines

Human labor still plays a crucial role in many work contexts. However, increases in production rate usually cause increases in human workloads. In this paper, the Authors propose a mixed integer nonlinear programming model aiming at finding optimal job rotation schedule in work-environments characterized by low load manual tasks with high frequency of repetition. In such a work environment a major risk consists of upper limbs work-related musculoskeletal disorders. Workload risk and acceptability are evaluated by the OCRA index method. Different skilled workers jointly operate on different workstations; workers show different operating times which cause cycle time variability of the assembly line. The model aims at integrating the assignment of work tasks to all classes of workers. Model proposed is applied to an assembly line from the automotive industry. Results obtained revealed the effectiveness of the model as it proved to be an adequate tool to jointly address the increase of manual workstations productivity rates and balancing of human workloads among the workstations, which are consistent with acceptable workloads limits