Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism.

Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial challenges. An increased understanding and awareness of these stressors can ensure better overall outcomes for the entire family. We conducted semi-structured, in-person interviews with ten parents to identify psychosocial stressors, strategies, and supports they utilized to overcome their challenges. Our interview guide was designed to elicit familial experiences during the pre- and post-diagnosis periods. The themes and sub-themes were identified through qualitative descriptive textual analysis of audio-recorded transcripts. Major themes identified include ambiguity of illness, changing family and spousal dynamics, and navigating the healthcare system. Sub-themes revolved around disease effects, psychological stressors, health systems, support, and facing the disease. Healthcare professionals have an opportunity to minimize the impact of negative emotional outcomes by assisting families as they navigate the experience of having a child with an IEM. Our findings can be used to develop and continue a more well-rounded, family-oriented framework for IEM management

Core Mass Estimates in Strong Lensing Galaxy Clusters: A Comparison between Masses Obtained from Detailed Lens Models, Single-halo Lens Models, and Einstein Radii

The core mass of galaxy clusters is both an important anchor of the radial mass distribution profile and a probe of structure formation. With thousands of strong lensing galaxy clusters being discovered by current and upcoming surveys, timely, efficient, and accurate core mass estimates are needed. We assess the results of two efficient methods to estimate the core mass of strong lensing clusters: the mass enclosed by the Einstein radius (M(<θE), where θE is approximated from arc positions, and a single-halo lens model (MSHM), compared with measurements from publicly available detailed lens models (MDLM) of the same clusters. We use data from the Sloan Giant Arc Survey, the Reionization Lensing Cluster Survey, the Hubble Frontier Fields, and the Cluster Lensing and Supernova Survey with Hubble. We find a scatter of 18.1% (8.2%) with a bias of −7.1% (1.0%) between ${M}_{\mathrm{corr}}\left(\lt {\theta }_{\mathrm{arcs}}\right)$ (MSHM) and MDLM. Last, we compare the statistical uncertainties measured in this work to those from simulations. This work demonstrates the successful application of these methods to observational data. As the effort to efficiently model the mass distribution of strong lensing galaxy clusters continues, we need fast, reliable methods to advance the field

Case of Multiple Sulfatase Deficiency and Ocular Albinism: A Diagnostic Odyssey

Background: Multiple sulfatase deficiency (MSD) is a rare autosomal recessive inborn error of lysosomal metabolism. The clinical phenotypic spectrum encompasses overlapping features of variable severity and is suggestive of individual single sulfatase deficiencies (i.e., metachromatic leukodystrophy, mucopolysaccharidosis, and X-linked ichthyosis). Case Report: We describe a 3-year-old male with severe hypotonia, developmental regression and progressive neurodegeneration, coarse facial features, nystagmus (from ocular albinism), and dysmyelinating motor sensory neuropathy. Ethics approval was obtained from the Western University Ontario. Results: Extensive investigative work-up identified deficiencies of multiple sulfatases: heparan sulfate sulfamidase: 6.5 nmoles/mg/protein/17 hour (reference 25.0-75.0), iduronate-2-sulfate sulfatase: 9 nmol/mg/protein/4 hour (reference 31-110), and arylsulfatase A: 3.8 nmoles/hr/mg protein (reference 22-50). The identification of compound heterozygous pathogenic mutations in the SUMF1 gene c.836 C\u3eT (p.A279V) and c.1045C\u3eT (p.R349W) confirmed the diagnosis of MSD. Conclusion: The complex clinical manifestations of MSD and the unrelated coexistence of ocular albinism as in our case can delay diagnosis. Genetic counselling should be provided to all affected families

On the investigations of galaxy redshift periodicity

In this article we present a historical review of study of the redshift periodicity of galaxies, starting from the first works performed in the seventies of the twentieth century until the present day. We discuss the observational data and methods used, showing in which cases the discretization of redshifts was observed. We conclude that galaxy redshift periodisation is an effect which can really exist. We also discussed the redshift discretization in two different structures: the Local Group of galaxies and the Hercules Supercluster. Contrary to the previous studies we consider all galaxies which can be regarded as a structure member disregarding the accuracy of velocity measurements. We applied the power spectrum analysis using the Hann function for weighting, together with the jackknife error estimator. In both the structures we found weak effects of redshift periodisation.Comment: 10 pages, 4 figures, to be published in Part. and Nucl. Lett. 200

Building professional discourse in emerging markets: Language, context and the challenge of sensemaking

Using ethnographic evidence from the former Soviet republics, this article examines a relatively new and mainly unobserved in the International Business (IB) literature phenomenon of communication disengagement that manifests itself in many emerging markets. We link it to the deficiencies of the local professional business discourse rooted in language limitations reflecting lack of experience with the market economy. This hampers cognitive coherence between foreign and local business entities, adding to the liability of foreignness as certain instances of professional experience fail to find adequate linguistic expression, and complicates cross-cultural adjustments causing multi-national companies (MNCs) financial losses. We contribute to the IB literature by examining cross-border semantic sensemaking through a retrospectively constructed observational study. We argue that a relative inadequacy of the national professional idiom is likely to remain a feature of business environment in post-communist economies for some time and therefore should be factored into business strategies of MNCs. Consequently, we recommend including discursive hazards in the risk evaluation of international projects

Defining binding efficiency and specificity of auxins for SCF(TIR1/AFB)-Aux/IAA co-receptor complex formation.

Structure-activity profiles for the phytohormone auxin have been collected for over 70 years, and a number of synthetic auxins are used in agriculture. Auxin classification schemes and binding models followed from understanding auxin structures. However, all of the data came from whole plant bioassays, meaning the output was the integral of many different processes. The discovery of Transport Inhibitor-Response 1 (TIR1) and the Auxin F-Box (AFB) proteins as sites of auxin perception and the role of auxin as molecular glue in the assembly of co-receptor complexes has allowed the development of a definitive quantitative structure-activity relationship for TIR1 and AFB5. Factorial analysis of binding activities offered two uncorrelated factors associated with binding efficiency and binding selectivity. The six maximum-likelihood estimators of Efficiency are changes in the overlap matrixes, inferring that Efficiency is related to the volume of the electronic system. Using the subset of compounds that bound strongly, chemometric analyses based on quantum chemical calculations and similarity and self-similarity indices yielded three classes of Specificity that relate to differential binding. Specificity may not be defined by any one specific atom or position and is influenced by coulomb matrixes, suggesting that it is driven by electrostatic forces. These analyses give the first receptor-specific classification of auxins and indicate that AFB5 is the preferred site for a number of auxinic herbicides by allowing interactions with analogues having van der Waals surfaces larger than that of indole-3-acetic acid. The quality factors are also examined in terms of long-standing models for the mechanism of auxin binding

Search for the Flavor-Changing Neutral-Current Decays D+→π+μ+μ−D^+\to \pi^+ \mu^+ \mu^- and D+→π+e+e−D^+\to \pi^+ e^+ e^-

We report the results of a search for the flavor-changing neutral-current decays $D^+\rightarrow \pi^+ \mu^+ \mu^-$ and $D^+\rightarrow \pi^+ e^+ e^-$ in data from Fermilab charm hadroproduction experiment E791. No signal above background is found, and we obtain upper limits on branching fractions, $B(D^+\rightarrow \pi^+ \mu^+ \mu^-) < 1.8 \times 10^{-5}$ and $B(D^+\rightarrow \pi^+ e^+ e^-) < 6.6 \times 10^{-5}$, at the 90\% confidence level.Comment: nine pages with figures; compressed, uuencoded postscrip