Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype

Organic Compounds in a Sub-Antarctic Ice Core: A Potential Suite of Sea Ice Markers.

Investigation of organic compounds in ice cores can potentially unlock a wealth of new information in these climate archives. We present results from the first ever ice core drilled on sub-Antarctic island Bouvet, representing a climatologically important but understudied region. We analyze a suite of novel and more familiar organic compounds in the ice core, alongside commonly measured ions. Methanesulfonic acid shows a significant, positive correlation to winter sea ice concentration, as does a fatty acid compound, oleic acid. Both may be sourced from spring phytoplankton blooms, which are larger following greater sea ice extent in the preceding winter. Oxalate, formate, and acetate are positively correlated to sea ice concentration in summer, but sources of these require further investigation. This study demonstrates the potential application of organic compounds from the marine biosphere in generating multiproxy sea ice records, which is critical in improving our understanding of past sea ice changes

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11.2, but is sometimes due to haploinsufficiency of a single gene, RAI1. The reciprocal duplication in 17p11.2 causes Potocki-Lupski syndrome (PTLS). We previously constructed mouse strains with a deletion, Df(11)17, or duplication, Dp(11)17, of the mouse genomic interval syntenic to the SMS/PTLS region. We demonstrate that Dp(11)17 is obesity-opposing; it conveys a highly penetrant, strain-independent phenotype of reduced weight, leaner body composition, lower TC/LDL, and increased insulin sensitivity that is not due to alteration in food intake or activity level. When fed with a high-fat diet, Dp(11)17/+ mice display much less weight gain and metabolic change than WT mice, demonstrating that the Dp(11)17 CNV protects against metabolic syndrome. Reciprocally, Df(11)17/+ mice with the deletion CNV have increased weight, higher fat content, decreased HDL, and reduced insulin sensitivity, manifesting a bona fide metabolic syndrome. These observations in the deficiency animal model are supported by human data from 76 SMS subjects. Further, studies on knockout/transgenic mice showed that the metabolic consequences of Dp(11)17 and Df(11)17 CNVs are not only due to dosage alterations of Rai1, the predominant dosage-sensitive gene for SMS and likely also PTLS. Our experiments in chromosome-engineered mouse CNV models for human genomic disorders demonstrate that a CNV can be causative for weight/metabolic phenotypes. Furthermore, we explored the biology underlying the contribution of CNV to the physiology of weight control and energy metabolism. The high penetrance, strain independence, and resistance to dietary influences associated with the CNVs in this study are features distinct from most SNP–associated metabolic traits and further highlight the potential importance of CNV in the etiology of both obesity and MetS as well as in the protection from these traits

Into Thick(er) Air? Oxygen Availability at Humans’ Physiological Frontier on Mount Everest

Global audiences are captivated by climbers pushing themselves to the limits in the hypoxic environment of Mount Everest. However, air pressure sets oxygen abundance, meaning it varies with the weather and climate warming. This presents safety issues for mountaineers, but also an opportunity for public engagement around climate change. Here we blend new observations from Everest with ERA5 reanalysis (1979- 2019) and climate model results to address both perspectives. We find that plausible warming could generate subtle but physiologically relevant changes in summit oxygen availability, including an almost 5% increase in annual minimum VO 2 max for 2°C warming since pre-industrial. In the current climate we find evidence of swings in pressure sufficient to change Everest’s apparent elevation by almost 750 m. Winter pressures can also plunge lower than previously reported, highlighting the importance of air pressure forecasts for the safety of those trying to push the physiological frontier on Mt. Everest

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

The characterization of mice with different number of copies of the same genomic segment shows that structural changes influence the phenotypic outcome independently of gene dosage

Improving financial capability: the mediating role of financial behaviour

This paper investigates the collective impact of financial literacy and inclusion on individuals’ financial capability focusing on the mediating role of financial behaviour. The research is conducted on an individual-level survey. The relationships were examined by using PLS-SEM. Financial capability can be improved by increasing individuals’ financial knowledge, financial behaviour and promoting their inclusion in financial services. Furthermore, the indirect effect of financial knowledge and attitude on financial capability is found to be significant, highlighting the importance of financial behaviour. The results assist policymakers and industry leaders in understanding the most influential factors on financial capability in the context of a post-communist transition country. This enables them to design policies and services aimed at equipping citizens with knowledge and skills to make best use of their financial resources. © 2020 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.Internal Grant Agency of FaME TBU [IGA/FaME/2019/002

Use of procalcitonin for the diagnosis of pneumonia in patients presenting with a chief complaint of dyspnoea: results from the BACH (Biomarkers in Acute Heart Failure) trial

Biomarkers have proven their ability in the evaluation of cardiopulmonary diseases.We investigated the utility of concentrations of the biomarker procalcitonin (PCT) alone and with clinical variables for the diagnosis of pneumonia in patients presenting to emergency departments (EDs) with a chief complaint of shortness of breath. The BACH trial was a prospective, international, study of 1641 patients presenting to EDs with dyspnoea. Blood samples were analysed for PCT and other biomarkers. Relevant clinical data were also captured. Patient outcomes were assessed at 90 days. The diagnosis of pneumonia was made using strictly validated guidelines. A model using PCT was more accurate [area under the curve (AUC) 72.3%] than any other individual clinical variable for the diagnosis of pneumonia in all patients, in those with obstructive lung disease, and in those with acute heart failure (AHF). Combining physician estimates of the probability of pneumonia with PCT values increased the accuracy to .86% for the diagnosis of pneumonia in all patients. Patients with a diagnosis of AHF and an elevated PCT concentration (.0.21 ng/mL) had a worse outcome if not treated with antibiotics (P ¼ 0.046), while patients with low PCT values (,0.05 ng/mL) had a better outcome if they did not receive antibiotic therapy (P ¼ 0.049). Procalcitonin may aid in the diagnosis of pneumonia, particularly in cases with high diagnostic uncertainty. Importantly, PCT may aid in the decision to administer antibiotic therapy to patients presenting with AHF in which clinical uncertainty exists regarding a superimposed bacterial infection

"Don't try to teach me, I got nothing to learn": Management students' perceptions of business ethics teaching

[EN] Interest is growing towards including business ethics in university curricula, aiming at improving ethical behaviour of future managers. Extant literature has investigated the impact of ethics education on different ethics-related students' cognitive and/or behavioural outcomes, considering variables related to training programmes and students' demographic aspects. Accordingly, we aim at assessing students' understanding of business ethics issues, by focusing on the differences in students' perceptions depending on gender, age, work experience, and ethics courses taken. Testing our hypotheses on a sample of 307 management students at a Polish university, and controlling for social desirability bias, we obtained mixed and partially surprising results. We found significant differences in students' understanding of business ethics depending on their gender and age (female and older students showed more ethical inclinations), but not depending on having taken ethics courses-actually perceptions of such courses worsened after taking them. Besides, work experience was not a significant variable. Moreover, course exposure intensiveness (i.e., number of ethics courses completed), and time passed since completion of the latest course, did not confirm hypothesized effects on most of the dependent (sub)variables. These findings stimulate further questions and challenges for future research (e.g., around course design and methodology, and social/cultural/contextual issues).Tormo-Carbó, G.; Oltra, V.; Klimkiewicz, K.; Seguí-Mas, E. (2019). "Don't try to teach me, I got nothing to learn": Management students' perceptions of business ethics teaching. 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