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Article
Publication date: 29 April 2014

Stephen Hopkins, Jeremy Turk, Adeniyi Daramola and Marinos Kyriakopoulos

Copy Number Variations (CNVs) are not infrequently observed in aberrant neurodevelopment. CNVs can alter gene expression and have been linked to a wide range of neuropsychiatric…

107

Abstract

Purpose

Copy Number Variations (CNVs) are not infrequently observed in aberrant neurodevelopment. CNVs can alter gene expression and have been linked to a wide range of neuropsychiatric disorders. The purpose of this case study is to report the association of CNVs with a mixed neurodevelopmental disorder.

Design/methodology/approach

Array-Comparative Genomic Hybridisation analysis was carried out in a case of an eight-year-old boy presenting with a mixed neurodevelopmental disorder including autism spectrum disorder, intellectual disability, tic disorder, anxiety and severe aggression. The child's parents also underwent the same investigation.

Findings

A 6q27 deletion and multiple copies within 20q11.23 were identified. The boy's father shared the 6q27 deletion and his mother also had multiple copies within 20q11.23.

Originality/value

This is the first report linking the combination of 6p27 and 20q11 CNVs with a mixed neurodevelopmental presentation. Identifying CNVs that may underlie aberrant neurodevelopment is likely to assist in unravelling the aetiology of neurodevelopmental and psychiatric disorders and lead to more effective strategies for their characterisation and management.

Details

Advances in Mental Health and Intellectual Disabilities, vol. 8 no. 3
Type: Research Article
ISSN: 2044-1282

Keywords

Content available
Book part
Publication date: 13 March 2019

Abstract

Details

Gender and Contemporary Horror in Film
Type: Book
ISBN: 978-1-78769-898-7

Article
Publication date: 1 January 2002

K.C. Fraser

99

Abstract

Details

Reference Reviews, vol. 16 no. 1
Type: Research Article
ISSN: 0950-4125

Keywords

Book part
Publication date: 13 March 2019

Joseph Brennan

This chapter considers the influence of horror on the production of commercial gay pornography. I see this influence reflected especially in the production and popularity of gay…

Abstract

This chapter considers the influence of horror on the production of commercial gay pornography. I see this influence reflected especially in the production and popularity of gay pornographic films inspired by horror franchises from the slasher and ‘torture porn’ cycles that have been remade in recent decades. Nine texts are selected for analysis – from the slasher genre: Bryan Kenny’s 2010 A Nightmare on Twink Street (inspired by the A Nightmare on Elm Street series), Andy Kay’s 2012 Black XXXmas (inspired by Black Christmas), Frank Fuder and Angel Skye’s 2009 Halloweiner: Friday the Fuckteenth and Chi Chi LaRue’s 2016 Scared Stiff (both inspired by the Friday the 13th series), Bromo’s 2017 Cream for Me (Scream series); and from the torture porn genre: Jett Blakk’s 2006 Bonesaw, John Bruno’s 2006 Rammer and Bryan Kenny’s 2010 Raw I and 2011 (with Andy Kay) Raw II (inspired by the Saw franchise). The specificity of the horror genre is addressed, as is the importance of gender. But particular focus is directed toward the structural aspects of gay porn parodies and the degree to which horror parodies in particular have the potential to blend pornographic homosex with graphic violence, perhaps most extreme in the slasher and torture porn horror variants. Other potentialities are also explored, such as for the easing of narrative/sex porn tensions.

Book part
Publication date: 13 March 2019

Steven Gerrard

Up until the turn of the millennium, there had been very little positive representation of women and women in action characters in the action film genre. Two notable exceptions…

Abstract

Up until the turn of the millennium, there had been very little positive representation of women and women in action characters in the action film genre. Two notable exceptions were Ellen Ripley in the Alien movies and Sarah Connor in the Terminator franchise. Whilst this has certainly changed over the last 20 years, one action/horror/science fiction heroine remains neglected: Project Alice in the six Resident Evil films. Portrayed by Milla Jovovich, and loosely based on the platform game character, Project Alice is strong, driven, motivated and tough. This chapter will, through detailed analysis of character, her physical presence through the clothing she wears, psychogeographical aspects, her use of weapons and narrative arc, clearly demonstrate the importance of Project Alice to the horror genre.

Details

Gender and Contemporary Horror in Film
Type: Book
ISBN: 978-1-78769-898-7

Keywords

Content available
Article
Publication date: 18 January 2021

Annette Quayle

693

Abstract

Details

Accounting, Auditing & Accountability Journal, vol. 34 no. 1
Type: Research Article
ISSN: 0951-3574

Content available
Book part
Publication date: 8 September 2022

Stephen Turner

Abstract

Details

Mad Hazard
Type: Book
ISBN: 978-1-80382-670-7

Book part
Publication date: 17 December 2009

John Barry and Stephen Quilley

The ‘Transition Town’ (TT) movement pioneered by Rob Hopkins initially in Kinsale (Ireland) and Totnes (United Kingdom) has become the fastest growing environmental movement in…

Abstract

The ‘Transition Town’ (TT) movement pioneered by Rob Hopkins initially in Kinsale (Ireland) and Totnes (United Kingdom) has become the fastest growing environmental movement in the global north (Hopkins, 2008). With over 30 official TT initiatives in the United Kingdom, the concept is now spreading into New Zealand, Canada, and many more countries.1 The movement starts from two premises: (i) the reality and implications of rapid and potentially catastrophic climate change; (ii) the reality of ‘peak oil’ – an imminent, permanent short fall in oil supply, increasing year on year with massive geo-political, economic and social consequences.2 Whilst supporting national and multilateral efforts to reduce emissions and to develop new energy technologies and infrastructures, TT leaves climate change protest to environmental campaigning groups, NGOs and activists oriented towards a global civil society. Acknowledging the need for ‘government and business responses [to climate change and peak oil] at all levels’, the role of TT is to ‘create [a] sense of anticipation, elation and a collective call to adventure’ and that this grass-roots bottom-up, local activism could potentially prepare the way for more directly political action at the level of national government (Hopkins, 2008, p. 15).

Details

The Transition to Sustainable Living and Practice
Type: Book
ISBN: 978-1-84950-641-0

Book part
Publication date: 1 January 2008

John Barry and Stephen Quilley

Abstract

Details

Advances in Ecopolitics
Type: Book
ISBN: 978-1-78052-669-0

Article
Publication date: 20 July 2012

Elizabeth Mengel and Vivian Lewis

While originally designed for the for‐profit sector, the Balanced Scorecard has been adopted by non‐profit and government organizations, including some libraries. This paper aims…

1899

Abstract

Purpose

While originally designed for the for‐profit sector, the Balanced Scorecard has been adopted by non‐profit and government organizations, including some libraries. This paper aims to focus on the continued experiences of two prominent North American research libraries, Johns Hopkins University and McMaster University. These two libraries were part of an Association of Research Libraries (ARL) pilot effort that included a total of four institutions, the two represented by the authors, plus the University of Virginia and the University of Washington.

Design/methodology/approach

The authors use a combination of quantitative and qualitative approaches. The quantitative aspects of the study are informal and theme‐based. When examining commonalities between Scorecards or overlap between Scorecard measures and the ARL statistics program, matches are made based on broad themes regardless of the specific words used in the formulae.

Findings

The participating libraries identified ten commonly measured “themes.” These themes are defined as key areas of focus present in three out of the four local sites. Using the standardized four‐perspective Scorecard framework, these themes are as follows: the customer – quality of physical space, customer satisfaction, instruction, document delivery, and collection preservation/discovery; financial health – revenue generation; learning and growth – employee satisfaction and diversity; internal processes – library promotion and assessment of services.

Originality/value

The article explores the question; can libraries improve their arsenal of assessment tools by working alongside each other (as opposed to directly with each other) as they implement local organizational performance measurement instruments?

Details

Library Management, vol. 33 no. 6/7
Type: Research Article
ISSN: 0143-5124

Keywords

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