1,721,198 research outputs found
Juvenile papillomatosis of the breast in a male infant with Noonan syndrome, Cafe au Lait spots, and family history of breast carcinoma
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Quantification of ante-mortem hypoxic ischemic brain injury by post-mortem cerebral magnetic resonance imaging in neonatal encephalopathy
No full textAutopsy investigation in stillbirth
Full text linkThe UK has the highest rate of stillbirth in the developed world and there are more than three million stillbirths worldwide each year. With over 30 different classification systems, the rate of unexplained stillbirth varies from 15-60% despite postmortem investigation being undertaken in a number of cases. The primary aims of this project were to use a unique autopsy database to examine a large well characterised series of stillbirth autopsies to assess specific causes of death, relationships between fetal maceration, intrauterine and postmortem interval on cause of death and fetal intrauterine growth restriction as well as producing evidence based guidelines for autopsy practise and investigating the potential role of novel techniques in future stillbirth autopsy. The analysis of more than 1000 intrauterine and intrapartum fetal deaths revealed that two thirds had an unexplained cause of death. Internal examination of the fetuses provided a definitive cause of death in 1% of cases; 19% of the overall causes of death could have been diagnosed from review of the clinical circumstances and a further 18% by placental macroscopic and microscopic examination. Significant associations were found between increasing maceration and Small for Gestational Age (SGA) fetuses and that using birthweight or bodyweight alone erroneously overestimate the role of SGA as an underlying factor in stillbirth causation. Other investigations such as modified organ weight ratios may contribute to determining cause of death. Proteomic experiments proved that in principle significantly different amounts and types proteins could be successfully extracted from formalin fixed paraffin embedded stillbirth fetal tissue in different case groups, suggesting a possible future investigation into the causation of stillbirth
Novel Investigations in Sudden Unexpected Death in Infancy (SUDI)
No full textUnexplained Sudden Unexpected Death in Infancy (SUDI) is a diagnosis where a definitive cause of death cannot be ascertained. It remains the most common diagnosis in infant death at autopsy, despite the performance of a range of investigations including histology, microbiology and chemical pathology. Of all infant deaths with a demonstrable cause, infection is the most common finding. Recent research has shown that in some cases of unexplained SUDI, there is supportive evidence of an infectious process. Recent advances in diagnostic pathology include immunohistochemistry on formalin-fixed, paraffin-embedded (FFPE) tissue, proteomics and metabolomics. However, there are few techniques, which have transitioned from clinical practice into use during autopsy. Current techniques used at autopsy in cases of sudden infant death were assessed to see whether there was support for an infectious process. This included a retrospective analysis of all infant autopsies performed at a single centre over a fourteen-year period. Also, current consensus opinion was evaluated to determine areas of diagnostic difficulty. Cohort groups of infant deaths were selected for the application of novel immunohistochemical staining and proteomic analysis from FFPE tissues. The findings indicate that infection remains the commonest identifiable cause of death in SUDI, even over a 100 year time period, supported by recent demographic data. Unexplained SUDI cases were confirmed as having an increased incidence of positive blood cultures for infections of uncertain significance, including Staphylococcus aureus and Escherichia Coli. Evaluation of organ weights at autopsy demonstrated no significant associations, although the thymus was smaller in cases of infectious deaths. Blood/bile acylcarnitine levels showed differential expression in 3 different cohorts. Immunohistochemical staining revealed infectious deaths had a characteristic profile of expression including upregulated C Reactive Protein and ICAM-1. Protein expression was investigated with development of an applicable technique for usage in autopsy FFPE tissue. Subsequently, a pilot study of the utilisation of proteomics in the diagnosis of SUDI was performed with effective extraction of peptides and the identification of bacterial proteins in different cohorts. This thesis has demonstrated new techniques for the investigation of SUDI with establishment of supportive evidence for infectious deaths which are applicable for future use in autopsy cases
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Studies of congenital melanocytic naevi
No full textCongenital melanocytic naevi (CMN) are pigmented birthmarks, known to be associated with an increased risk of neurological abnormalities and malignant melanoma. Current treatments for the cutaneous lesions and complications are limited for severely affected individuals, driving the research within this thesis into the aetiopathogenesis of this condition. The potential offered by studying rare diseases is also relevant to this project, particularly on the background of the rising incidence of melanoma in young people in the UK. The aims of this research were to expand the clinical description of the condition, to look for predisposing genetic alterations in the germline, to identify possible biomarkers for risk of complications and to investigate the lineage of naevus cells. To these ends we studied a large population of affected children to expand the phenotypic associations, investigating facial features, endocrinological status, pigmentary phenotype and growth, we undertook histopathological phenotyping of cutaneous and neurological lesions using immunohistochemistry and electron microscopy and employed array comparative genomic hybridisation and next generation sequencing for screening of germline haplotypes and mutations. Typical facial features were described in the majority of children with CMN, and the term CMN syndrome was proposed to encompass these. Post-natal growth was found to be rapid, leading to significantly increased BMI compared to the current UK population. Skewed anterior pituitary hormone measurements and increased parental thyroid abnormalities were suggestive of central hormonal dysfunction, however hormonal production from the cutaneous lesions could not be excluded. Histological phenotyping inferred that the primary abnormality underlying CMN may affect a population of stem cells, not necessarily destined to be melanocytes. An association between MC1R genotype and presence and severity of CMN was found using a candidate gene approach, and other germline candidates were identified. The results in this thesis have improved our understanding of the clinical and histological phenotype of CMN, and have identified genetic factors involved in the pathogenesis of the condition
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