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Summary: Compromised eggshell quality causes considerable economic losses for the egg industry. Breeding for improved eggshell quality has been very challenging. Eggshell quality is a trait that would greatly benefit from marker‐assisted selection, which would allow the selection of sires for their direct contribution to the trait and would also allow implementation of measurements integrating a number of shell parameters that are difficult to measure. In this study, we selected the most promising autosomal quantitative trait loci (QTL) affecting eggshell quality on chromosomes 2, 3, 6 and 14 from earlier experiments and we extended the F2 population to include 1599 F2 females. The study was repeated on two commercial populations: Lohmann Tierzucht Rhode Island Red line (n = 692 females) and a Hy‐Line White Plymouth Rock line (n = 290 progeny tested males). We analyzed the selected autosomal QTL regions on the three populations with SNP markers at 4–13 SNPs/Mb density. QTL for eggshell quality were replicated on all studied regions in the F2 population. New QTL were detected for eggshell color on chromosomes 3 and 6. Marker associations with eggshell quality traits were validated in the tested commercial lines on chromosomes 2, 3 and 6, thus paving the way for marker‐assisted selection for improved eggshell quality. [ABSTRACT FROM AUTHOR]

The cuticle is a proteinaceous layer covering the avian egg and is believed to form a defence to microorganism ingress. In birds that lay eggs in challenging environments, the cuticle is thicker, suggesting evolutionary pressure; however, in poultry, selection pressure for this trait has been removed because of artificial incubation. This study aimed to quantify cuticle deposition and to estimate its genetic parameters and its role on trans-shell penetration of bacteria. Additionally, cuticle proteins were characterised to establish whether alleles for these genes explained variation in deposition. A novel and reliable quantification was achieved using the difference in reflectance of the egg at 650 nm before and after staining with a specific dye. The heritability of this novel measurement was moderate (0.27), and bacteria penetration was dependent on the natural variation in cuticle deposition. Eggs with the best cuticle were never penetrated by bacteria ( P < 0.001). The cuticle proteome consisted of six major proteins. A significant association was found between alleles of one of these protein genes, ovocleidin-116 ( MEPE), and cuticle deposition ( P = 0.015) and also between alleles of estrogen receptor 1 ( ESR1) gene and cuticle deposition ( P = 0.008). With the heritability observed, genetic selection should be possible to increase cuticle deposition in commercial poultry, so reducing trans-generational transmission of microorganisms and reversing the lack of selection pressure for this trait during recent domestication. [ABSTRACT FROM AUTHOR]

This study examined the potential biochemical and mechanical structures that may contribute to egg adhesion in European whitefish Coregonus lavaretus. Experiments showed that eggs from a population of C. lavaretus from Loch Eck remained non-adhesive in a solution chemically similar to ovarian fluid but became adhesive seconds after contact with water. Examination of the ultrastructure of the chorion showed that the morphology changed significantly after contact with water, with nodule-like protuberances attached to connective filaments on the surface present in water-hardened but not non-water hardened eggs. Biochemical analysis showed the presence of Chain A, RNase ZF-3e proteins in the chorion of water-hardened but not non-water hardened eggs. Histochemical staining of the chorion of C. lavaretus eggs showed that the externa, but not the interna, stained positively for the presence of glycoproteins. From these results, it was concluded that C. lavaretus from Loch Eck possess both anatomical and biochemical adhesive mechanisms that have been undocumented in this species so far. [ABSTRACT FROM AUTHOR]

The size and orientation of calcium carbonate crystals influence the structure and strength of the eggshells of chickens. In this study, estimates of heritability were found to be high (0.6) for crystal size and moderate (0.3) for crystal orientation. There was a strong positive correlation (0.65) for crystal size and orientation with the thickness of the shell and, in particular, with the thickness of the mammillary layer. Correlations with shell breaking strength were positive but with a high standard error. This was contrary to expectations, as in man-made materials smaller crystals would be stronger. We believe the results of this study support the hypothesis that the structural organization of shell, and in particular the mammillary layer, is influenced by crystal size and orientation, especially during the initial phase of calcification. Genetic associations for crystal measurements were observed between haplotype blocks or individual markers for a number of eggshell matrix proteins. Ovalbumin and ovotransferrin ( LTF) markers for example were associated with crystal size, while ovocleidin-116 and ovocalyxin-32 ( RARRES1) markers were associated with crystal orientation. The location of these proteins in the eggshell is consistent with different phases of the shell-formation process. In conclusion, the variability of crystal size, and to a lesser extent orientation, appears to have a large genetic component, and the formation of calcite crystals are intimately related to the ultrastructure of the eggshell. Moreover, this study also provides evidence that proteins in the shell influence the variability of crystal traits and, in turn, the shell's thickness profile. The crystal measurements and/or the associated genetic markers may therefore prove to be useful in selection programs to improve eggshell quality. [ABSTRACT FROM AUTHOR]

Summary Large fish species are at high risk of extinction because of life cycle characteristics and migratory fishes are often vulnerable to river modifications and overexploitation. The freshwater fish family Cyprinidae has the highest diversity in species, varied morphological and behavioral properties, and a wide range of habitat requirements. This study included an analysis of the conservation attention on large, migratory cyprinid species, a summary of threats jeopardizing the endangered species in this group, and a case study on little known species from northwest China. About 1% of all cyprinid species exceed 1 m in total length, and most of these fishes have migratory behaviors. Most of these species (79%) have not been evaluated for conservation attention, and a minor portion that have been evaluated were considered endangered. The threats to large migratory cyprinids include all the common threats to freshwater biodiversity: overexploitation, habitat alteration, water pollution, flow modification, and species invasion. The first two threats explain most of the decline in abundance and range of large, migratory cyprinids, and the others are sometimes important. The case of the Xinjiang datou fish ( Aspiorhynchus laticeps) illustrates how an impressive species can be lost without much scientific or public attention. The analysis of conservation attention, threats, and the case study support the conclusion that large, migratory cyprinids are not receiving conservation efforts that should be focused on fish species that are especially vulnerable to human impacts. [ABSTRACT FROM AUTHOR]

Summary A set of methods are developed and demonstrated for setting clear and measurable fish community targets for environmental restoration in contemporary waterways. Two case studies illustrate the application and value of these methods: a small northeast United States river and the Hudson River estuary in New York City. A target fish community can be used to diagnose impediments to a desired fish fauna, define needed restoration activities, and identify precisely the fish community for restoration. A target fish community defines species composition and community proportions by species. In the small river case, observed fish community had underrepresented species that were mostly fluvial fishes and overly abundant species that were mostly habitat generalists or lentic oriented species. Results indicated flowing water habitat improvement was the highest priority. The estuary case defined species composition and community proportions for shorelines in New York City. While this estuarine ecosystem had a high diversity of fishes and few missing species, the shoreline community was determined to be highly biased toward fishes using open pelagic waters. Departures from target conditions were used to define clear and practical restoration needs in this intensely urbanized waterway: shallow shoreline waters with cover. Integrating restoration policy, objective zoogeography analyses, and theory-based parameters of community structure yields restoration specifications that are future oriented, meaningful to the public, and scientifically justified. [ABSTRACT FROM AUTHOR]

Summary Reasons for performing study: Although crib-biting (cribbing)/windsucking has previously been associated with 2 types of colic, additional research into the possible role of other behaviours on incidence of colic by type and severity has not been undertaken. Objectives: To investigate: a relationship between cribbing/windsucking and colic; a relationship between cribbing/windsucking and different types of colic, both medical and surgical; and whether horses displaying specific behaviour traits were more likely to have had colic. Methods: A matched case-control retrospective study was conducted evaluating horses with various surgical and medical colic diagnoses, admitted to a referral hospital over a 3 year period. Computerised records and a validated internet questionnaire were used to obtain information on owner-perceived behavioural traits and repetitive behaviours. Results: Cribbing/windsucking was significantly associated with colic but was unassociated with one category or severity of colic over another. No other repetitive behaviour was associated with colic. Age (≥20 years) was significantly associated with colic. An anxious temperament was not associated with risk of colic. Conclusion: Animals at higher risk for colic may be identified based on history of cribbing/windsucking behaviour, but this behaviour was unassociated with increased risk for a particular category or severity of colic. Horses characterised as being more anxious were not at increased risk for colic. Potential relevance: There is a need to elucidate a causal relationship between cribbing/windsucking and gastrointestinal function as development of more effective and humane strategies to treat cribbing/windsucking behaviour may help to improve equine welfare and reduce the risk of colic. [ABSTRACT FROM AUTHOR]

Novel and traditional eggshell quality measurements were made from up to 2000 commercial pedigree hens for a candidate gene association analysis with organic eggshell matrix genes: ovocleidin-116, osteopontin ( SPP1), ovocalyxin-32 ( RARRES1), ovotransferrin ( LTF), ovalbumin and ovocalyxin-36, as well as key genes in the maintenance and function of the shell gland [ estrogen receptor ( ESR1) and carbonic anhydrase II ( CAII)]. Associations were found for (i) ovalbumin with breaking strength and shell thickness; (ii) ovocleidin-116 with elastic modulus, shell thickness and egg shape; (iii) RARRES1 with mammillary layer thickness; (iv) ESR1 with dynamic stiffness; (v) SPP1 with fracture toughness and (vi) CAII with egg shape. The marker effects are as large as 17% of trait standard deviations and could be used to improve eggshell quality. [ABSTRACT FROM AUTHOR]

Aims To describe how changes in legislation to restrict paracetamol sales have affected overdose discharges and death associated with the drug in Scotland. Methods A descriptive analysis of routine death and hospital discharge data for the entire Scottish population between 1995 and 2004. Patients in Scotland participated who were discharged from hospital with a diagnosis of poisoning; deaths in Scotland from diagnosis of poisoning 1995–2003 were also analysed. Outcome measures were changes in mortality and overdose due to poisoning involving paracetamol. A comparison was made of in-hospital and out-of-hospital mortality in fatalities involving paracetamol. Results The majority of paracetamol-associated deaths were due to co-proxamol. Deaths associated with paracetamol alone or with ethanol occurred principally in hospital and were a minority of deaths overall. The proportion of in-hospital deaths attributed to paracetamol increased (post/pre ratio 1.347; 95% confidence interval 1.076, 1.639; P = 0.013). Overall numbers of cases discharged with poisoning fell. The proportion of these involving paracetamol in any form increased significantly in all groups except young men aged 10 to <20 years. Conclusions Legislation has not reduced mortality or proportional use of paracetamol in overdose, both of which appear to have increased in Scotland since pack-size limitations. Other approaches are necessary to reduce the death rate from overdoses involving paracetamol. [ABSTRACT FROM AUTHOR]

Persistent trimethylaminuria in children is caused by autosomal recessively inherited impairment of hepatic trimethylamine (TMA) oxidation due to deficiency of flavin monooxygenase 3 (FMO3) secondary to mutations in the FMO3 gene. Trimethylaminuria or ‘fish odour syndrome’ is due to excessive excretion into body fluids and breath of TMA derived from the enterobacterial metabolism of dietary precursors. The disorder is present from birth but becomes apparent as foods containing high amounts of choline or of trimethylamine N-oxide (TMAO) from marine (sea or saltwater) fish are introduced into the diet. In our experience, trimethylaminuria (FMO3 deficiency) in children is rare. We have compared the dynamics and diagnostic efficacy of choline loading with marine fish meals in six children with trimethylaminuria. Loading with a marine fish meal provides a simple and acceptable method for confirmation of diagnosis of suspected trimethylaminuria in children, with the effects being cleared more quickly than with a choline load test. However, oral loading with choline bitartrate allows estimation of residual oxidative capacity in vivo and is a useful adjunct to molecular studies. Patients homozygous for the ‘common’ P153L mutation in the FMO3 gene showed virtual complete lack of residual TMA N-oxidative capacity, consistent with a nonfunctional or absent FMO3 enzyme, whereas a patient with the M82T mutation showed some residual oxidative capacity. A patient compound heterozygous for two novel mutations, G193E and R483T, showed considerable residual N-oxidative capacity. A further patient, heterozygous for two novel sequence variations in the FMO3 gene, consistently showed malodour and elevated urinary TMA/TMAO ratios under basal conditions but a negative response to both choline and marine fish meal loading. Comparison of the effects of administration of antibiotics (metronidazole, amoxicillin, neomycin) on gut bacterial production of trimethylamine from choline showed they all reduced TMA production to a limited extent, with neomycin being most effective. ‘Best-practice’ diagnostic and treatment guidelines are summarized. [ABSTRACT FROM AUTHOR]

Summary. Polyethylene glycol-conjugated adenosine deaminase (pegademase) is used for enzyme replacement therapy for patients with severe combined immunodeficiency caused by adenosine deaminase deficiency. The entrapment of pegademase within human energy-replete carrier erythrocytes using a hypo-osmotic dialysis procedure was investigated with the objective of prolonging the in vivo circulatory half-life of the enzyme and maintaining therapeutic blood levels. Native unmodified adenosine deaminase (ADA) was similarly studied. The efficiency of pegademase entrapment was low (9%) whereas the entrapment of native unmodified ADA was substantial (50%), suggesting that the polyethylene glycol side-chains were impeding intracellular entrapment. The biochemical characteristics and the osmotic fragility of these carrier erythrocytes were not adversely affected by the entrapment of either pegademase or native ADA. In vivo survival studies of pegademase-loaded [sup 51]Cr-labelled carrier erythrocytes in an ADA-deficient adult patient showed a mean cell half-life of 16 d. Carrier erythrocyte-entrapped pegademase and native ADA had in vivo half-lives of 20 and 12.5 d, respectively, demonstrating that entrapment prolongs the half-life over that of plasma pegademase, which has a circulating half-life of 3-6 d. These results provide the basis for a more extensive clinical evaluation of carrier erythrocyte-entrapped native adenosine deaminase therapy. [ABSTRACT FROM AUTHOR]

A 36-year follow-up on the original patient described with methylmalonic aciduria has shown that she has methylmalonyl-CoA apomutase deficiency. The main clinical problem associated with her methylmalonic aciduria is progressive renal impairment requiring commencement of haemodialysis at 42 years of age. [ABSTRACT FROM AUTHOR]

Background There is heterogeneity in the severity of domains affected in patients with stroke, resulting in differences in health-related quality of life (hrQoL). Identifying different clinical profiles of stroke patients may provide a means for selecting patients for tailored interventions to improve hrQoL. Methods and Results This was an observational study of 496 patients with ischemic stroke or intracerebral hemorrhage seen in a cerebrovascular clinic from October 12, 2015, through June 11, 2018, who completed patient-reported outcome measures using Patient-Reported Outcome Measurement Information System (PROMIS) tools within 1 month of stroke. Latent profile analysis identified groups based on PROMIS domain scores-pain, depression, cognitive function, fatigue, social role satisfaction, and physical function-as well as clinician-reported modified Rankin Scale ( mRS ). Five distinct profiles were identified. Group 1 ("excellent hrQoL," n=106) had fewer symptoms in all domains than the general population. Group 2 ("disabled with mixed hrQoL," n=17) had fewer symptoms than the general population in all domains except social role satisfaction and physical function, despite having moderate disability (median mRS score: 3). Group 3 ("mild limitations with average hrQoL," n=189) had scores similar to the general population for all domains and minimal disability (median mRS score: 1). Group 4 ("mild limitations with poor hrQoL," n=152) also had a median mRS score of 1 but had worse scores than group 3 on all domains. Group 5 ("disabled with poor hrQoL," n=32) had worse symptoms than patients in the other profiles and a median mRS score of 3. Conclusions Patients with recent stroke have distinct clinical symptom profiles, even with similar levels of clinician-reported disability. Symptom profiles provide a means of understanding patterns of outcomes in patients with stroke.