Publications by authors named "Sian Roberts"

Introduction: The aim of this study was to investigate nurse and allied health professional experiences and attitudes toward critical care research in Wales.

Methods: Data were collected related to demographic characteristics, involvement in and understanding of research, perceived influences and attitudes towards research. We calculated means (ranges) for continuous variable and frequencies (proportions) for discrete variables and performed an exploratory factor analysis.

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Background: The evidence base relating to women's engagement and experiences of postnatal care following Gestational Diabetes Mellitus in the United Kingdom is limited. Additionally, the uptake of a postnatal fasting blood glucose testing following Gestational Diabetes Mellitus appears to be poor.

Objective: This study aimed to explore women's engagement, views and experiences of postnatal care following Gestational Diabetes Mellitus in the United Kingdom.

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Background: Most people who are dying want to be cared for at home, but only half of them achieve this. The likelihood of a home death often depends on the availability of able and willing lay carers. When people who are dying are unable to take oral medication, injectable medication is used.

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Background: While the majority of seriously ill people wish to die at home, only half achieve this. The likelihood of someone dying at home often depends on the availability of able and willing lay carers to support them. Dying people are usually unable to take oral medication.

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While human infants can display distinctive behavioural and physiological spinal cord and brainstem responses to noxious stimulation, it is not known whether cortical neurons are specifically activated by noxious stimuli in newborns. Here, using a novel approach to time-lock an EEG recording to a clinically required heel lance, we show the presence of a distinct nociceptive-specific potential in newborn infants (35-39 weeks postmenstrual age). The potential can be observed in single trials in the central electrodes (Cz and CPz) and using principal component analysis is characterised by a positivity that occurs at approximately 560 ms post-stimulus (N420-P560; P, positive; N, negative).

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The first in this two-part unit discusses new British Thoracic Society guidance on using emergency oxygen in adults. This is the first national guidance on this area and the implications for possible changes to practice are highlighted here. This part outlines the philosophy behind the guideline, the differences between hypoxaemic and hypercapnic patients and essential assessments for critically ill patients who need emergency oxygen.

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This is the second of a two-part unit on the use of emergency oxygen in adults. Part 1 outlined the main recommendations of the recently published British Thoracic Society guidance. It also examined managing breathlessness in non-hypoxaemic patients.

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Objectives: : A 7-year experience with a minimally invasive approach to routine lung cancer resection is compared with standard lateral open thoracotomy.

Methods: : All patients undergoing lung resection with curative intent for primary lung cancer between July 1998 and November 2005 by a single surgical team were registered. Surgical access was obtained through a mini 5- to 6-cm anterior thoracotomy with video assistance; direct visualization was also used extensively.

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Background: Studies of chromosome 15 abnormality have implicated over-expression of paternally imprinted genes in the 15q11-13 region in the aetiology of autism. To test this hypothesis we compared individuals with Prader-Willi syndrome (PWS) due to uniparental disomy (UPD--where paternally imprinted genes are over-expressed) to individuals with the 15q11-13 deletion form of the syndrome (where paternally imprinted genes are not over-expressed). We also tested reports that PWS cases due to the larger type I (TI) form of deletion show differences to cases with the smaller type II (TII) deletion.

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Autism (OMIM 209850) is a neurodevelopmental disorder with a significant genetic component of a complex nature. Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome critical region (PWACR) on chromosome 15 (q11-13) have been described in several individuals with autism. We have examined five microsatellite markers spread across the 4 Mb PWACR for linkage disequilibrium (LD) in 148 families with autism spectrum disorder (ASD) and a subset of 82 families with autism using the extended transmission disequilibrium test (ETDT).

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The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11-13) is of interest as a potential locus for genes conferring susceptibility to autism spectrum disorders (ASD). This report describes a female proband referred for evaluation of a possible ASD. Genetic analyses indicated that the proband, her father and one of her sisters, carried a paternally derived interstitial duplication involving 15q11-13.

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Objectives: The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected series of children who were referred to one of two autism assessment centres.

Methods: Two hundred and twenty-one cases were assessed using the Autism Diagnostic Interview and Observation Schedule and, where appropriate, standardized tests of intelligence and language abilities. Medical histories and notes were reviewed, and molecular and cytogenetic investigations used to detect chromosomal abnormalities.

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We reascertained a family in which first cousins were affected by Angelman syndrome and Prader-Willi syndrome. A paracentric inversion of 15q11-q15 had previously been reported in this family but we show, using fluorescence in situ hybridization (FISH), that the rearrangement segregating in this family is not a paracentric inversion but an inverted intrachromosomal insertion, inv ins(15)(q15q13q11.2).

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Prader Willi Syndrome (PWS) is a neuro-genetic disorder. It has been reported that cases due to paternal deletion 15q11-13 (Del) behave differently to cases due to uniparental disomy (UPD). Comparison of the two forms of PWS has, to date, not included the frequency of autistic behaviours, even though there are reports of an association between maternal duplications of 15q11-13 and autism spectrum disorders (ASD).

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Detailed stopped-flow studies in combination with site-directed mutagenesis, isothermal titration calorimetry data and x-ray crystallographic knowledge have revealed that the biphasic pre-equilibrium fluorescence changes reported for a single Ig-binding domain of protein L from Peptostreptococcus magnus binding to kappa light chain are due to the binding of the kappa light chain at two separate sites on the protein L molecule. Elimination of binding site 2 through the mutation A66W has allowed the K(d) for kappa light chain binding at site 1 to be measured by stopped-flow fluorescence and isothermal titration calorimetry techniques, giving values of 48.0 +/- 8.

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Chromosome 15 is frequently involved in the formation of structural rearrangements. We report the molecular characterisation of 16 independent interstitial duplications, including those of one individual who carried a duplication on both of her chromosomes 15, and three interstitial triplications of the Prader-Willi/Angelman syndrome critical region (PWACR). In all probands except one, the rearrangement was maternal in origin.

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