53 research outputs found

    Histological, histochemical and fine structure studies of the lacrimal gland and superficial gland of the third eyelid and their significance on the proper function of the eyeball in alpaca (Vicugna pacos)

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    The lacrimal gland (LG) and superficial gland of the third eyelid (SGTE) belong to accessory organs of the eye. The aim of the present studies was to evaluate the histological, histochemical and fine structure of the LG and SGTE obtained from 3 adult females and 2 adult males of alpaca (Vicugna pacos). The LG was situated in the dorsolateral angle of the orbit between the dorsal rectus and the lateral rectus muscles. The SGTE was located between the medial rectus muscle, the ventral rectus muscle and was partially covered by the ventral oblique muscle of the eyeball. There were no effect of gender on the morphometry of examined LG and SGTE. The third eyelid resembles an anchor in shape. During histological and ultrastructural analyses using light and transmission electron microscopy, it was established that the LG and SGTE are tubulo-acinar glands with mucoserous characters. The LG contains either lymphocytes or plasma cells, while SGTE had rare plasma cells and numerous lymphocytes in connective tissue. The cartilage of the third eyelid was composed of hyaline tissue. Numerous aggregations of lymphocytes as lymph nodules in bulbar surface of the third eyelid were observed. The LG and SGTE secretory cells exhibited a similar ultrastructure appearance in electron microscopic examination, with secretory cells tightly filled with intracytoplasmatic secretory granules and numerous clusters of mucus of different sizes which were observed in the peripheral cells compartment

    Morphology and a proposed model of innervation of the human deltoid muscle: a pilot study

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    Background: The deltoid muscle (DM) plays an essential role in retaining the stability and correct function of the upper limb. The aims of the study were to perform a detailed morphological analysis of the DM including its innervation, structure, attachments and relationship with adjacent structures.Materials and methods: The study was carried out on 17 formalin-fixed cadavericupper limbs. After dissection of the shoulders, the DM was visualised and analysed.The following measurements of the muscle were performed for all cases: width of attachments (acromial, clavicular, spinal), entire width of origin, length of the component parts (acromial, clavicular, and spinal) and length of the arm.Results: In all specimens, a characteristic ‘segmented’ innervation scheme of the DM was observed. The axillary nerve (AN) was always divided into an anterior branch (abAN) and a posterior branch (pbAN). Two variations of the DM innervation were distinguished: variation I, where the clavicular and the acromial parts were innervated by the abAN, while the spinal part was supplied both by abAN (anterior fibres) and by pbAN (posterior fibres), and variation II, in which the spinal part did not have double innervation — the abAN innervation area covered only the acromial and clavicular parts, and the entire spinal part was supplied by pbAN. Both variations had a segmented arrangement of sub-branches reaching individual parts of the DM, which was particularly distinct in the clavicular and acromial parts. Correlations were found between the entire width of the DM originand the length of the arm (p = 0.001), between the length of the acromial part of the DM and the length of the arm (p = 0.003), between the width of the spinal attachment and the length of the spinal part (p = 0.002), and between the width of the spinal attachment and the length of the arm (p = 0.0008).Conclusions: The study confirmed the existence of a characteristic segmented innervation scheme of the DM which corresponds with the segmented morphology of its individual parts. An analysis of the internal structure of the muscle specific architectonics based on the tendon system was also presented

    Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

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    Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an analysis framework to rank pathways that requires only summary statistics. We combined this score across disorders to find common pathways across three adult psychiatric disorders: schizophrenia, major depression and bipolar disorder. Histone methylation processes showed the strongest association, and we also found statistically significant evidence for associations with multiple immune and neuronal signaling pathways and with the postsynaptic density. Our study indicates that risk variants for psychiatric disorders aggregate in particular biological pathways and that these pathways are frequently shared between disorders. Our results confirm known mechanisms and suggest several novel insights into the etiology of psychiatric disorders

    Press release - Commonwealth-State agreement on urban transport

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    Context: There is evidence of linkage to a schizophrenia susceptibility locus on chromosome 8p21-22 found by several family linkage studies.Objectives: To fine map and identify a susceptibility gene for schizophrenia on chromosome 8p22 and to investigate the effect of this genetic susceptibility on an endophenotype of abnormal brain structure using magnetic resonance imaging.Design: Fine mapping and identification of a chromosome 8p22 susceptibility gene was carried out by finding linkage disequilibrium between genetic markers and schizophrenia in multiply affected families, a case-control sample, and a trio sample. Variation in brain morphology associated with pericentriolar material 1 (PCM1) alleles was examined using voxel-based morphometry and statistical parametric mapping with magnetic resonance imaging.Setting and Patients: A family sample of 13 large families multiply affected with schizophrenia, 2 schizophrenia case-control samples from the United Kingdom and Scotland, and a sample of schizophrenic trios from the United States containing parents and 1 affected child with schizophrenia.Main Outcome Measures: Tests of transmission disequilibrium between PCM1 locus polymorphisms and schizophrenia using a family sample and tests of allelic association in case-control and trio samples. Voxel-based morphometry using statistical parametric mapping.Results: The family and trio samples both showed significant transmission disequilibrium between marker D85261 in the PCM1 gene locus and schizophrenia. The case-control sample from the United Kingdom also found significant allelic association between PCM1 gene markers and schizophrenia. Voxel-based morphometry of cases who had inherited a PCM1 genetic susceptibility showed a significant relative reduction in the volume of orbitofrontal cortex gray matter in comparison with patients with non-PCM1-associated schizophrenia, who, by contrast, showed gray matter volume reduction in the temporal pole, hippocampus, and inferior temporal cortex.Conclusions: The PCM1 gene is implicated in susceptibility to schizophrenia and is associated with orbitofrontal gray matter volumetric deficits

    Variability in Working Memory Performance Explained by Epistasis vs Polygenic Scores in the ZNF804A Pathway

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    Importance: We investigated the variation in neuropsychological function explained by risk alleles at the psychosis susceptibility gene ZNF804A and its interacting partners using single nucleotide polymorphisms (SNPs), polygenic scores, and epistatic analyses. Of particular importance was the relative contribution of the polygenic score vs epistasis in variation explained. Objectives To (1) assess the association between SNPs in ZNF804A and the ZNF804A polygenic score with measures of cognition in cases with psychosis and (2) assess whether epistasis within the ZNF804A pathway could explain additional variation above and beyond that explained by the polygenic score. Design, Setting, and Participants: Patients with psychosis (n = 424) were assessed in areas of cognitive ability impaired in schizophrenia including IQ, memory, attention, and social cognition. We used the Psychiatric GWAS Consortium 1 schizophrenia genome-wide association study to calculate a polygenic score based on identified risk variants within this genetic pathway. Cognitive measures significantly associated with the polygenic score were tested for an epistatic component using a training set (n = 170), which was used to develop linear regression models containing the polygenic score and 2-SNP interactions. The best-fitting models were tested for replication in 2 independent test sets of cases: (1) 170 individuals with schizophrenia or schizoaffective disorder and (2) 84 patients with broad psychosis (including bipolar disorder, major depressive disorder, and other psychosis). Main Outcomes and Measures: Participants completed a neuropsychological assessment battery designed to target the cognitive deficits of schizophrenia including general cognitive function, episodic memory, working memory, attentional control, and social cognition. Results: Higher polygenic scores were associated with poorer performance among patients on IQ, memory, and social cognition, explaining 1% to 3% of variation on these scores (range, P = .01 to .03). Using a narrow psychosis training set and independent test sets of narrow phenotype psychosis (schizophrenia and schizoaffective disorder), broad psychosis, and control participants (n = 89), the addition of 2 interaction terms containing 2 SNPs each increased the R2 for spatial working memory strategy in the independent psychosis test sets from 1.2% using the polygenic score only to 4.8% (P = .11 and .001, respectively) but did not explain additional variation in control participants. Conclusions and Relevance: These data support a role for the ZNF804A pathway in IQ, memory, and social cognition in cases. Furthermore, we showed that epistasis increases the variation explained above the contribution of the polygenic score

    Use of anticoagulants and antiplatelet agents in stable outpatients with coronary artery disease and atrial fibrillation. International CLARIFY registry

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    Improving Genetic Prediction by Leveraging Genetic Correlations Among Human Diseases and Traits

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    Genomic prediction has the potential to contribute to precision medicine. However, to date, the utility of such predictors is limited due to low accuracy for most traits. Here theory and simulation study are used to demonstrate that widespread pleiotropy among phenotypes can be utilised to improve genomic risk prediction. We show how a genetic predictor can be created as a weighted index that combines published genome-wide association study (GWAS) summary statistics across many different traits. We apply this framework to predict risk of schizophrenia and bipolar disorder in the Psychiatric Genomics consortium data, finding substantial heterogeneity in prediction accuracy increases across cohorts. For six additional phenotypes in the UK Biobank data, we find increases in prediction accuracy ranging from 0.7 for height to 47 for type 2 diabetes, when using a multi-trait predictor that combines published summary statistics from multiple traits, as compared to a predictor based only on one trait. © 2018 The Author(s)

    Effects of linseed and oat in antibiotic-free diets on the gut health, mucosal integrity and performance of piglets

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    The aim of the study was to determine the effects of 10% linseed meal (FM) and 15% hulled oat meal (HOM) in antibiotic-free diets on clinical health, performance, faecal Escherichia coli shedding, haematological indices and gut morphology of weaned piglets (n=48) before and after exposure to a controlled infection with enterotoxigenic E. coli K88 (ETEC). It was observed that both plants improved (
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