1,721,222 research outputs found
Molecular genetic investigation of left ventricular outflow tract obstruction
No full textLeft Ventricular Outflow Tract Obstruction (LVOTO) is a significant subtype of Congenital Heart Disease (CHD) with these lesions accounting for 14% of all CHD. The associated mortality and morbidity associated with these lesions is significant with severe cases frequently fatal. Although a multifactorial aetiology for LVOTO has been proposed, there are multiple strands of evidence to suggest that LVOTO is in at least some cases monogenic. The use of chromosomal abnormalities such as balanced translocations is a recognised tool in the identification of disease genes. A patient was identified with LVOTO in association with a de novo balanced translocation, 46,XY,t(14;15)(q23;q26.3) dn and the regions surrounding the breakpoints on both chromosomes were considered candidate loci for a causative gene. Investigation of the breakpoints by FISH and by mapping of the breakpoint on derived chromosome 14 showed that NR2F2, a transcription factor with a role in development, was interrupted by the translocation. However, sequencing of NR2F2 in 112 DNA samples from patients with isolated LVOTO failed to show any additional mutations. Due to the possibility of a position effect, additional genes up to 2 Mb from the breakpoints were considered candidate genes and the mRNA expression in murine embryos was studied. mRNA expression patterns of Nr2f2 and Mctp2were identified consistent with a role in cardiac development. Subsequent sequencing of MCTP2 identified a single missense mutation in the LVOTO patient cohort, suggesting both genes may be involved in the aetiology of LVOTO. Immunohistochemistry of NR2F2 and MCTP2 also showed patterns consistent with a role for both proteins in cardiogenesis; NR2F2 expression included atrial myocardium and heart valves and MCTP2 in the ventricular myocardium. As copy number variation of NR2F2 and MCTP2 remained a further possible cause for LVOTO, DNA from 36 cases of isolated LVOTO with a normal karyotype and negative for mutations in NR2F2 or MCTP2, was interrogated using array Comparative Genomic Hybridisation. Although no CNVs of the region containing these genes were identified, the interruption of NR2F2 by a translocation and discovery of a mutation in MCTP2 suggests that variation in either gene may be a low frequency cause of LVOTO.<br/
The age difference between spouses Cross-national and within-country variations
No full textAvailable from British Library Document Supply Centre- DSC:DXN059816 / BLDSC - British Library Document Supply CentreSIGLEGBUnited Kingdo
Partnered intimate activities in early adolescence: findings from the UK Millennium Cohort Study
Full text linkPurpose:
Little is known about potential influences on emerging partnered intimate behaviors in early adolescence. We investigate (1) the prevalence of partnered intimate activities and (2) associations with social relationships, parental monitoring and supervision, health behaviors, and psychosocial well-being.
Methods:
We used population-based data from the UK's Millennium Cohort Study on 11,079 participants aged 14 years. Partnered intimate activities were grouped into three categories: “light” (handholding, kissing, and cuddling); “moderate” (touching and fondling under clothes); and “heavy” (oral sex and sexual intercourse). Multinomial logistic regression models were used.
Results:
Thirty percent of study participants reported not engaging in partnered intimate activity. Fifty-eight percent reported “light,” 7.5 percent “moderate,” and 3.2 percent “heavy” activity. Associated with increased likelihood (adjusted relative risk ratios [RRRs]) of intimate activities were confiding worries in a friend (light RRR = 2.13, moderate RRR = 3.42, heavy RRR=5.32), low parental monitoring—staying out late or overnight (late: light RRR = 1.62, moderate RRR = 2.44, heavy RRR = 2.32; overnight: light RRR = 1.57, moderate RRR = 1.94, heavy RRR = 3.38), health-damaging behaviors (per unit increase: light RRR = 1.91, moderate RRR = 3.15, heavy RRR = 5.03), and depressive symptoms (per scale point increase light RRR = 1.03, moderate RRR = 1.09, heavy RRR = 1.11). Confiding in a parent was associated with lower likelihood of intimate activity (light RRR = .82, moderate RRR = .65, heavy RRR = .65).
Conclusions:
Partnered intimate activity of some form is commonplace among 14-year-olds in the United Kingdom. Given the short- and long-term implications of adolescent sexual development and well-being, improving our understanding of influences could help identify opportunities for interventions with benefits across the lifecourse
Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome
No full textThe emerging ophthalmological phenotype of XXYY syndrome
No full text48 XXYY is a sex chromosome tetrasomy condition which causes tall stature, hypergonadotrophic hypogonadism, facial dysmorphism, developmental delay and behavioural difficulties.Over 100 cases have been published in the literature but there is little information on the ophthalmic findings in these patients. Previously reported ophthalmic findings have included Duane anomaly, high myopia and retinal dysfunction. We report a case of 48, XXYY syndrome in a child who presented with developmental delay. He was referred to Ophthalmology with a squint and on detailed examination was found to be hyperopic; with an unusual pigmented fundal appearance he had a normal electroretinogram and normal visual evoked potentials
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
Familial Ebstein’s anomaly: whole exome sequencing identifies novel phenotype associate with FLNA
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