Outcome of pregnancies in epileptic women: a study in Saudi Arabia

AbstractWe studied the outcome of 79 pregnancies in 44 Saudi women who had epilepsy. Their mean age was 28 ± 6.5 years and the number of pregnancies studied varied from one to six. Nineteen subjects had generalized seizures, 16 had partial seizures and nine were unclassified. The commonest drug prescribed was carbamazepine and the majority of the women (61%) were on monotherapy. The seizures were controlled in 53 pregnancies (67%). Spontaneous vertex deliveries were the commonest. The indications for intervention by lower segment Caesarean section, forceps or ventouse were foetal distress, pre-eclamptic toxaemia (PET), eclampsia, breech presentation and prolonged labour. The most frequent adverse outcome in the babies was low birth weight (<2.5 kg) in nine pregnancies. The frequency of congenital malformation was 2.5%. Low birth weight was associated with prematurity, PET, congenital malformation and polytherapy. Avoidance of polytherapy appears to be the most feasible intervention in reducing the frequency of low birth-weight children by epileptic mothers

Wise Up To Cancer - can it make a difference?

This document reports the findings of 'Wise Up To Cancer' a Community Health Initiative, funded by Yorkshire Cancer Research. The aims of Wise Up To Cancer were to; decrease behaviours associated with cancer risk, increase awareness of cancer signs and symptoms,, increase cancer screening rates and increase signposting to other services

Wise Up To Cancer - can it make a difference? Executive Summary.

A summary of the evaluation of Wise Up To Cancer. A Community Health Initiative funded by Yorkshire Cancer Research, aiming to improve cancer outcomes

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Purpose Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined effects on splicing of a large cohort of clinically identified variants and compared performance of bioinformatic splicing prediction tools commonly used in diagnostic laboratories. Methods Two hundred fifty-seven variants (coding and noncoding) were referred for analysis across three laboratories. Blood RNA samples underwent targeted reverse transcription polymerase chain reaction (RT-PCR) analysis with Sanger sequencing of PCR products and agarose gel electrophoresis. Seventeen samples also underwent transcriptome-wide RNA sequencing with targeted splicing analysis based on Sashimi plot visualization. Bioinformatic splicing predictions were obtained using Alamut, HSF 3.1, and SpliceAI software. Results Eighty-five variants (33%) were associated with abnormal splicing. The most frequent abnormality was upstream exon skipping (39/85 variants), which was most often associated with splice donor region variants. SpliceAI had greatest accuracy in predicting splicing abnormalities (0.91) and outperformed other tools in sensitivity and specificity. Conclusion Splicing analysis of blood RNA identifies diagnostically important splicing abnormalities and clarifies functional effects of a significant proportion of VUSs. Bioinformatic predictions are improving but still make significant errors. RNA analysis should therefore be routinely considered in genetic disease diagnostics

Facile synthesis and proposed mechanism of α,ω‐oxetanyl-telechelic poly(3-nitratomethyl-3-methyl oxetane) by an SN2(i) nitrato displacement method in basic media

The synthesis of a novel heterocyclic–telechelic polymer, α,ω-oxetanyl-telechelic poly(3-nitratomethyl-3-methyl oxetane), is described. Infrared spectroscopy (IR), gel permeation chromatography (GPC), and nuclear magnetic resonance (NMR) spectroscopy have been used to confirm the successful synthesis, demonstrating the presence of the telechelic-oxetanyl moieties. Synthesis of the terminal functionalities has been achieved via displacement of nitrato groups, in a manner similar to that employed with other leaving groups such as azido, bromo, and nitro, initiated by nucleophiles. In the present case, displacement occurs on the ends of a nitrato-functionalized polymer driven by the formation of sodium nitrate, which is supported by the polar aprotic solvent N,N-dimethyl formamide. The formation of an alkoxide at the polymer chain ends is favored and allows internal back-biting to the nearest carbon bearing the nitrato group, intrinsically in an SN2(i) reaction, leading to α,ω-oxetanyl functionalization. The telechelic-oxetanyl moieties have the potential to be cross-linked by chemical (e.g., acidic) or radiative (e.g., ultraviolet) curing methods without the use of high temperatures, usually below 100°C. This type of material was designed for future use as a contraband simulant, whereby it would form the predominant constituent of elastomeric composites comprising rubbery polymer with small quantities of solids, typically crystals of contraband substances, such as explosives or narcotics. This method also provides an alternative approach to ring closure and synthesis of heterocycles

The impact of curriculum hierarchies on the development of professional self in teaching: student-teachers of drama negotiating issues of subject status at the interface between drama and English

At the level of policy the relative ‘value’ of subjects is determined by their official curriculum designation, creating a hierarchy of learning within which particular subjects are categorised as optional to the educational experience of young people. This situation is well-illustrated by the marginalised position of drama in the National Curriculum for England and Wales in which drama appears as an adjunct to the ‘core’ subject English. Yet at school level drama has survived as a discrete and reasonably embedded subject. Drawing on questionnaire and interview data, I investigate the effects of this mismatch on the emergence of pedagogical content knowledge, linked to notions of professional self, in drama student-teachers at one university in the UK. Findings indicate that the student-teachers, whilst not entirely eschewing a less-regulated relationship between the two subjects, view the curriculum for English and its accompanying assessment regime as an inadequate host for drama. In addition, they regard teacher autonomy over curriculum content and pedagogy as indicative of a high degree of professional expertise. This suggests that a case can be made for re-evaluating the nature of the relationship between drama and English and its representation in policy-constructed curricula

Analysing the European Union's responses to organized crime through different securitization lenses

In the past 30 years, organized crime (OC) has shifted from being an issue of little, or no concern, to being considered one of the key security threats facing the European Union (EU), the economic and political fabric of its society and its citizens. The purpose of this article is to understand how OC has come to be understood as one of the major security threats in the EU, by applying different lenses of Securitization Theory (ST). More specifically, the research question guiding this article is whether applying different ST approaches can lead us to draw differing conclusions as to whether OC has been successfully securitized in the EU. Building on the recent literature that argues that this theoretical framework has branched out into different approaches, this article wishes to contrast two alternative views of how a security problem comes into being, in order to verify whether different approaches can lead to diverging conclusions regarding the same phenomenon. The purpose of this exercise is to contribute to the further development of ST by pointing out that the choice in approach bears direct consequences on reaching a conclusion regarding the successful character of a securitization process. Starting from a reflection on ST, the article proceeds with applying a “linguistic approach” to the case study, which it then contrasts with a “sociological approach”. The article proposes that although the application of a “linguistic approach” seems to indicate that OC has become securitized in the EU, it also overlooks a number of elements, which the “sociological approach” renders visible and which lead us to refute the initial conclusion

A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer

Germline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer. De novo mutations such as multiple exon deletion are rarely occurred in BRCA1 and BRCA2. During our mutation screening for BRCA1/2 genes to Chinese women with risk factors for hereditary breast/ovarian cancer, we identified a novel germline mutation, consisting of a deletion from exons 1 to 12 in BRCA1 gene, in a patient diagnosed with early onset triple negative breast cancer with no family history of cancer. None of her parents carried the mutation and molecular analysis showed that this novel de novo germline mutation resulted in down-regulation of BRCA1 gene expression