A robust Bayesian analysis of the impact of policy decisions on crop rotations.

We analyse the impact of a policy decision on crop rotations, using the imprecise land use model that was developed by the authors in earlier work. A specific challenge in crop rotation models is that farmer’s crop choices are driven by both policy changes and external non-stationary factors, such as rainfall, temperature and agricultural input and output prices. Such dynamics can be modelled by a non-stationary stochastic process, where crop transition probabilities are multinomial logistic functions of such external factors. We use a robust Bayesian approach to estimate the parameters of our model, and validate it by comparing the model response with a non-parametric estimate, as well as by cross validation. Finally, we use the resulting predictions to solve a hypothetical yet realistic policy problem

Calcium and magnesium in human toenails do not reflect bone mineral density

Nail mineral composition is influenced by several physiological and pathological processes. Potentially, nails could be used to monitor alterations in the level of incorporation of specific elements produced by nutritional abnormalities, disease states or chronic exposure to toxic agents. The purpose of this study was to investigate whether the calcium and magnesium content in nail clippings, as measured by instrumental neutron activation analysis (INAA), correlates with bone mineral density (BMD), as measured by quantitative microdensitometry (QMD), and therefore could be interesting as a screening instrument for osteoporosis. The study involved 220 women, who participated in a breast cancer screening project (the DOM-project) in Utrecht, the Netherlands. The correlations found between Ca and Mg measurements and bone mineral densities were very low (correlation coefficients ranging from 0.03 to 0.18). It is concluded that Ca and Mg measurements in nail clippings by INAA cannot be used for screening purposes in the prevention of osteoporosis

A robust Bayesian analysis of the impact of policy decisions on crop rotations

We analyse the impact of a policy decision on crop rotations, using the imprecise land use model that was developed by the authors in earlier work. A specific challenge in crop rotation models is that farmer’s crop choices are driven by both policy changes and external non-stationary factors, such as rainfall, temperature and agricultural input and output prices. Such dynamics can be modelled by a non-stationary stochastic process, where crop transition probabilities are multinomial logistic functions of such external factors. We use a robust Bayesian approach to estimate the parameters of our model, and validate it by comparing the model response with a non-parametric estimate, as well as by cross validation. Finally, we use the resulting predictions to solve a hypothetical yet realistic policy problem

Perceptions of genetic risk, testing, and counseling among individuals with eating disorders

Objective: Eating disorders develop as a result of genetic and environmental factors. Given that they are multifactorial conditions with a genetic component, they fall within the scope of practice for genetic counseling, but people with these conditions are rarely referred. The purpose of this study was to explore the perceptions of causes of eating disorders, recurrence risk, and interest in genetic counseling and testing among individuals with eating disorders. Method: An online survey comprising both multiple choice and free form text questions, vignettes about genetic counseling, and the ED100K (validated eating disorder diagnostic questionnaire) was shared via support organizations and prominent bloggers in the eating disorders community to recruit individuals with a personal history of an eating disorder from November 2018 to February 2019. Results: In total, 107 participants completed the survey. They perceived that both experiences and genetics were important factors in the development of their eating disorder. All responding participants overestimated the risk for recurrence of eating disorders in children, often by a large margin, and a notable minority reported that their experience with an eating disorder had a negative influence on their childbearing decisions. After imagined experience of genetic counseling, participants reported significantly decreased feelings of stigma, shame, and guilt. Most participants expressed interest in genetic counseling; fewer were interested in genetic testing. Discussion: Genetic counseling may benefit individuals with eating disorders by providing accurate recurrence risk information and reducing feelings of guilt, stigma, and shame, which may in turn encourage earlier support seeking and recovery

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

Purpose: Autosomal recessive bestrophinopathy (ARB) is a newly defined retinal dystrophy caused by biallelic mutations in bestrophin-1 (BEST1) and is hypothesized to represent the null bestrophin-1 phenotype in humans. The aim was to determine whether a synonymous BEST1 variant, c.102C>T, identified in two unrelated ARB patients, alters pre-mRNA splicing of the gene. Additionally a detailed phenotypic characterization of this distinctive condition is presented for both patients.Methods: BEST1 was analyzed by direct sequencing. Patients underwent standard ophthalmic assessment. In silico and in vitro analysis using a minigene system was performed to assess whether a synonymous variant identified, c.102C>T p.Gly34Gly, alters pre-mRNA splicing of BEST1.Results: Both ARB patients harbored either proven (patient 1; c.102C>T p.Gly34Gly and c.572T>C p.Leu191Pro) or presumed (patient 2; c.102C>T p.Gly34Gly and c.1470_1471delCA, p.His490GlnfsX24) biallelic mutations in BEST1 and were found to have phenotypes consistent with ARB. In vitro analysis of the synonymous variant, c.102C>T p.Gly34Gly, demonstrated it to introduce a cryptic splice donor site 52 nucleotides upstream of the actual splice donor site.Conclusions: The novel BEST1 variant identified, c.102C>T p.Gly34Gly, alters pre-mRNA splicing in vitro and is potentially pathogenic. In vivo this splicing variant is predicted to lead to the production of an mRNA transcript with a premature termination codon (p.Glu35TrpfsX11) that is predicted to be degraded by NMD

Monopole clusters, center vortices, and confinement in a Z(2) gauge-Higgs system

We propose to use the different kinds of vacua of the gauge theories coupled to matter as a laboratory to test confinement ideas of pure Yang-Mills theories. In particular, the very poor overlap of the Wilson loop with the broken string states supports the 't Hooft and Mandelstam confinement criteria. However in the Z(2) gauge-Higgs model we use as a guide we find that the condensation of monopoles and center vortices is a necessary, but not sufficient condition for confinement.Comment: 13 pages, 6 figures, minor changes, version to be published on Phys. Rev.

Impact of field number and beam angle on functional image-guided lung cancer radiotherapy planning

To investigate the effect of beam angles and field number on functionally-guided intensity modulated radiotherapy (IMRT) normal lung avoidance treatment plans that incorporate hyperpolarised helium-3 magnetic resonance imaging ((3)He MRI) ventilation data. Eight non-small cell lung cancer patients had pre-treatment (3)He MRI that was registered to inspiration breath-hold radiotherapy planning computed tomography. IMRT plans that minimised the volume of total lung receiving  ⩾20 Gy (V20) were compared with plans that minimised (3)He MRI defined functional lung receiving  ⩾20 Gy (fV20). Coplanar IMRT plans using 5-field manually optimised beam angles and 9-field equidistant plans were also evaluated. For each pair of plans, the Wilcoxon signed ranks test was used to compare fV20 and the percentage of planning target volume (PTV) receiving 90% of the prescription dose (PTV90). Incorporation of (3)He MRI led to median reductions in fV20 of 1.3% (range: 0.2-9.3%; p  =  0.04) and 0.2% (range: 0 to 4.1%; p  =  0.012) for 5- and 9-field arrangements, respectively. There was no clinically significant difference in target coverage. Functionally-guided IMRT plans incorporating hyperpolarised (3)He MRI information can reduce the dose received by ventilated lung without comprising PTV coverage. The effect was greater for optimised beam angles rather than uniformly spaced fields

Genetic factors and insulin secretion: gene variants in the IGF genes

IGFs are important regulators of pancreatic beta-cell development, growth, and maintenance. Mutations in the IGF genes have been found to be associated with type 2 diabetes, myocardial infarction, birth weight, and obesity. These associations could result from changes in insulin secretion. We have analyzed glucose-stimulated insulin secretion using hyperglycemic clamps in carriers of a CA repeat in the IGF-I promoter and an ApaI polymorphism in the IGF-II gene. Normal and impaired glucose-tolerant subjects (n = 237) were independently recruited from three different populations in the Netherlands and Germany to allow independent replication of associations. Both first- and second-phase insulin secretion were not significantly different between the various IGF-I or IGF-II genotypes. Remarkably, noncarriers of the IGF-I CA repeat allele had both a reduced insulin sensitivity index (ISI) and disposition index (DI), suggesting an altered balance between insulin secretion and insulin action. Other diabetes-related parameters were not significantly different for both the IGF-I and IGF-II gene variant. We conclude that gene variants in the IGF-I and IGF-II genes are not associated with detectable variations in glucose-stimulated insulin secretion in these three independent populations. Further studies are needed to examine the exact contributions of the IGF-I CA repeat alleles to variations in ISI and DI

Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene

Previously, we have shown that a mutation in the mitochondrial DNA-encoded tRNA(Leu(UUR)) gene is associated with type 2 diabetes. One of the consequences of this mutation is a reduced aminoacylation of tRNA(Leu(UUR)). In this study, we have examined whether variants in the leucyl tRNA synthetase gene (LARS2), involved in aminoacylation of tRNA(Leu(UUR)), associate with type 2 diabetes. Direct sequencing of LARS2 cDNA from 25 type 2 diabetic subjects revealed eight single nucleotide polymorphisms. Two of the variants were examined in 7,836 subjects from four independent populations in the Netherlands and Denmark. A -109 g/a variant was not associated with type 2 diabetes. Allele frequencies for the other variant, H324Q, were 3.5% in type 2 diabetic and 2.7% in control subjects, respectively. The common odds ratio across all four studies was 1.40 (95% CI 1.12-1.76), P = 0.004. There were no significant differences in clinical variables between carriers and noncarriers. In this study, we provide evidence that the LARS2 gene may represent a novel type 2 diabetes susceptibility gene. The mechanism by which the H324Q variant enhances type 2 diabetes risk needs to be further established. This is the first report of association between an aminoacyl tRNA synthetase gene and disease. Our results further highlight the important role of mitochondria in glucose homeostasis

Couplings of light I=0 scalar mesons to simple operators in the complex plane

The flavour and glue structure of the light scalar mesons in QCD are probed by studying the couplings of the I=0 mesons $\sigma(600)$ and $f_0(980)$ to the operators $\bar{q}q$, $\alpha_s G^2$ and to two photons. The Roy dispersive representation for the $\pi\pi$ amplitude $t_0^0(s)$ is used to determine the pole positions as well as the residues in the complex plane. On the real axis, $t_0^0$ is constrained to solve the Roy equation together with elastic unitarity up to the K\Kbar threshold leading to an improved description of the $f_0(980)$. The problem of using a two-particle threshold as a matching point is discussed. A simple relation is established between the coupling of a scalar meson to an operator $j_S$ and the value of the related pion form-factor computed at the resonance pole. Pion scalar form-factors as well as two-photon partial-wave amplitudes are expressed as coupled-channel Omn\`es dispersive representations. Subtraction constants are constrained by chiral symmetry and experimental data. Comparison of our results for the $\bar{q}q$ couplings with earlier determinations of the analogous couplings of the lightest I=1 and $I=1/2$ scalar mesons are compatible with an assignment of the $\sigma$, $\kappa$, $a_0(980)$, $f_0(980)$ into a nonet. Concerning the gluonic operator $\alpha_s G^2$ we find a significant coupling to both the $\sigma$ and the $f_0(980)$.Comment: 31 pages, 5 figure