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BackgroundMaternal high blood glucose during pregnancy increases the risk for both maternal and fetal adverse outcomes. The mechanisms underlying the regulator effects of hyperglycemia on placental development and growth have not been fully illustrated yet. The placenta expresses high amounts of both insulin receptor (IR) and insulin-like growth factor receptor (IGF-1R). It has been reported that the placenta of diabetic women has structural and functional alterations and the insulin/IGF system is likely to play a role in these changes. The aim of the present study was to measure the content of IR and IGF-1R and their phosphorylation in the placenta of women with type 1 diabetes mellitus (T1D) or with gestational diabetes mellitus (GDM) compared to women with normal glucose tolerance (NGT) during pregnancy.MethodsPlacental tissues were obtained from 80 Caucasian women with a singleton pregnancy. In particular, we collected placenta samples from 20 T1D patients, 20 GDM patients and 40 NGT women during pregnancy. Clinical characteristics and anthropometric measures of all women as well as delivery and newborn characteristics were recorded. Patients were also subdivided on the basis of peripartum glycemia either ≥90 mg/dl or 90 mg/dl, while IR-A expression was increased in those with peripartum blood glucose higher than 120 mg/dl (p=0.046).ConclusionsTo the best of our knowledge, our study represents the first one in which an increased maternal blood glucose level during pregnancy is associated with an increased IGF-1R phosphorylation and IR-A expression in the placenta. Both these mechanisms can promote an excessive fetal growth.

The transition to a sustainable society and a carbon-neutral economy by 2050 requires extensive deployment of renewable energy sources that, due to the aleatority and non-programmability of most of them, may seriously affect the stability of existing power grids. In this context, buildings are increasingly being seen as a potential source of energy flexibility for the power grid. In literature, key performance indicators, allowing different aspects of the load management, are used to investigate buildings’ energy flexibility. The paper reviews existing indicators developed in the context of theoretical, experimental and numerical studies on flexible buildings, outlining the current status and the potential future perspective. Moreover, the paper briefly reviews the range of grid services that flexible buildings can provide to support the reliability of the electric power system which is potentially challenged by the increasing interconnection of distributed variable renewable generation.

Abstract Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant either in the TYR or the OCA2 gene. Diagnostic sequencing of the TYR and OCA2 genes is routinely used for molecular diagnosis of OCA subtypes. To study the possibility that genomic abnormalities with single or multiple exon involvement may account for a portion of the potential missing pathogenic variants (the second), we retrospectively analyzed the TYR gene by long range PCR and analyzed the target 2.7 kb deletion in the OCA2 gene spanning exon 7 in OCA patients with a single pathogenic variant in the target genes. Results In the 108 patients analyzed, we found that one patient was heterozygous for the 2.7 kb OCA2 gene deletion and this patient was positive with one pathogenic variant and one possibly pathogenic variant [c.1103C>T (p.Ala368Val) + c.913C>T (p.R305W)]. Further analysis of maternal DNA, and two additional OCA DNA homozygous for the 2.7 kb deletion, revealed that the phenotypically normal mother is heterozygous of the 2.7 kb deletion and homozygous of the p.R305W. The two previously reported patients with homozygous of the 2.7 kb deletion are also homozygous of p.R305W. Conclusions Among the reported pathogenic variants, the pathogenicity of the p.R305W has been discussed intensively in literature. Our results indicate that p.R305W is unlikely a pathogenic variant. The possibility of linkage disequilibrium between p.R305W with the 2.7 kb deletion in OCA2 gene is also suggested.

BackgroundFeelings of loneliness are associated with poor physical and mental health. Detection of loneliness through passive sensing on personal devices can lead to the development of interventions aimed at decreasing rates of loneliness. ObjectiveThe aim of this study was to explore the potential of using passive sensing to infer levels of loneliness and to identify the corresponding behavioral patterns. MethodsData were collected from smartphones and Fitbits (Flex 2) of 160 college students over a semester. The participants completed the University of California, Los Angeles (UCLA) loneliness questionnaire at the beginning and end of the semester. For a classification purpose, the scores were categorized into high (questionnaire score>40) and low (≤40) levels of loneliness. Daily features were extracted from both devices to capture activity and mobility, communication and phone usage, and sleep behaviors. The features were then averaged to generate semester-level features. We used 3 analytic methods: (1) statistical analysis to provide an overview of loneliness in college students, (2) data mining using the Apriori algorithm to extract behavior patterns associated with loneliness, and (3) machine learning classification to infer the level of loneliness and the change in levels of loneliness using an ensemble of gradient boosting and logistic regression algorithms with feature selection in a leave-one-student-out cross-validation manner. ResultsThe average loneliness score from the presurveys and postsurveys was above 43 (presurvey SD 9.4 and postsurvey SD 10.4), and the majority of participants fell into the high loneliness category (scores above 40) with 63.8% (102/160) in the presurvey and 58.8% (94/160) in the postsurvey. Scores greater than 1 standard deviation above the mean were observed in 12.5% (20/160) of the participants in both pre- and postsurvey scores. The majority of scores, however, fell between 1 standard deviation below and above the mean (pre=66.9% [107/160] and post=73.1% [117/160]). ConclusionsPassive sensing has the potential for detecting loneliness in college students and identifying the associated behavioral patterns. These findings highlight intervention opportunities through mobile technology to reduce the impact of loneliness on individuals’ health and well-being.

The European Union is moving towards a sustainable, decarbonized, and circular economy. It has identified seven key value chains in which to intervene, with the battery and vehicle value chain being one of them. Thus, actions and strategies for the sustainability of batteries need to be developed. Since Life Cycle Assessment (LCA) is a strategic tool for evaluating environmental sustainability, this paper investigates its application to two configurations of a sodium–nickel chloride cell (planar and tubular), focusing on the active material and the anode, with the purpose of identifying the configuration characterized by the lowest environmental impacts. The results, based on a “from cradle to gate” approach, showed that the tubular cell performs better for all environmental impact categories measured except for particulate matter, acidification, and resource depletion. With nickel being the main contributor to these impact categories, future sustainable strategies need to be oriented towards the reduction/recovery of this material or the use of nickel coming from a more sustainable supply chain. The original contribution of the paper is twofold: (1) It enriches the number of case studies of LCAs applied to sodium/nickel chloride cells, adding to the few studies on these types of cells that can be found in the existing scientific literature. (2) The results identify the environmental hot spots (cell configuration and materials used) for improving the environmental footprint of batteries made from sodium/nickel chloride cells.

Obesity represents a major risk factor for metabolic disorders, but some individuals, “metabolically healthy” (MHO), show less clinical evidence of these complications, in contrast to “metabolically unhealthy” (MUO) individuals. The aim of this cross-sectional study is to assess the prevalence of the MHO phenotype in a cohort of 246 overweight/obese Italian children and adolescents, and to evaluate their characteristics and the role of insulin resistance. Homeostasis model assessment–insulin resistance (HOMA-IR), insulin sensitivity index (ISI), insulinogenic index (IGI) and disposition index (DI) were all calculated from the Oral Glucose Tolerance Test (OGTT). MHO was defined by either: (1) HOMA-IR < 2.5 (MHO-IRes), or (2) absence of the criteria for metabolic syndrome (MHO-MetS). The MHO prevalence, according to MHO-MetS or MHO-IRes criteria, was 37.4% and 15.8%, respectively. ISI was the strongest predictor of the MHO phenotype, independently associated with both MHO-IRes and MHO-MetS. The MHO-MetS group was further subdivided into insulin sensitive or insulin resistant on the basis of HOMA-IR (either < or ≥ 2.5). Insulin sensitive MHO-MetS patients had a better metabolic profile compared to both insulin resistant MHO-MetS and MUO-MetS individuals. These data underscore the relevance of insulin sensitivity to identifying, among young individuals with overweight/obesity, the ones who have a more favorable metabolic phenotype.

Andrea Tumminia,1 Laura Sciacca,1 Lucia Frittitta,1 Sebastiano Squatrito,1 Riccardo Vigneri,2 Rosario Le Moli,1 Letizia Tomaselli2 1Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Garibaldi-Nesima Hospital, Catania, Italy; 2Endocrinology, Garibaldi-Nesima Hospital, Catania, Italy Abstract: Insulin pump therapy combined with real-time continuous glucose monitoring, known as sensor-augmented pump (SAP) therapy, has been shown to improve metabolic control and to reduce the rate of hypoglycemia in adults with type 1 diabetes compared to multiple daily injections or standard continuous subcutaneous insulin infusion. Glycemic variability is also reduced in patients on SAP therapy. This approach allows patients to monitor their glucose levels being informed of glycemic concentration and trend. Trained diabetic patients, therefore, can appropriately modify insulin infusion and/or carbohydrate intake in order to prevent hypo- or hyperglycemia. For these reasons, SAP therapy is now considered the gold standard for type 1 diabetes treatment. To be clinically effective, however, devices and techniques using advanced technology should not only have the potential to theoretically ameliorate metabolic control, but also be well accepted by patients in terms of satisfaction and health-related quality of life, because these factors will improve treatment adherence and consequently overall outcome. SAP therapy is generally well tolerated by patients; however, many clinical trials have identified significant noncompliance in the use of this device, most notably in the pediatric and adolescent populations. In this review we aim to analyze the main reasons for good or poor adherence to SAP therapy and to provide useful tips in order to fully benefit from this kind of novel therapeutic approach. Keywords: sensor-augmented insulin pump therapy, type 1 diabetes, quality of life, patient adherence, continuous subcutaneous insulin infusion