Positional cloning in Xp22 : towards the isolation of the gene involved in X-linked retinoschisis

The study was aimed at the positional cloning of disease genes in Xp22.1-p22.2. To this end a YAC contig covering this region was constructed. To identify candidate genes for the diseases localised in this region exon trapping was applied. Several novel transcripts were isolated from the region, of which one was analysed in detail.Anthropogenetica ULGenoomkartering en moleculaire cytogenetic

Trials, Truth-telling and the Performing Body

In this thesis, I examine the role performance plays in the adversarial criminal jury trial. The initial motivation behind this inquiry was the pervasiveness of a metaphor: why is the courtroom so frequently compared to a theatre? Most writings on this topic see the courtroom as bearing what might be termed a cosmetic resemblance to a theatre, making comparisons, for instance, between elements of costume and staging. I pursue a different line of argument. I argue that performance is not simply an embellishment of the trial process but rather a constitutive feature of the criminal jury trial. It is by means of what I call the performance of tradition that the trial acquires its social significance as a (supposedly) timeless bulwark of authority and impartiality. In the first three chapters I show that popular usage of the term ‘theatrical’ (whether it be to describe the practice of a flamboyant lawyer, or a misbehaving defendant) is frequently laden with pejorative connotations and invariably (though usually only implicitly) invokes comparison to a presupposed authentic or natural way of behaviour (‘not-performing’). Drawing on the work of Michel Foucault and Pierre Bourdieu I argue that, whatever legal agents see as appropriate trial conduct (behaviour that is ‘not-performing’), they are misrecognising the performative accomplishments and demands required of both legal agents and laypersons in the trial. This performance constructs and maintains a gap between legal practitioners and laypersons which is essential to maintaining the status of the legal profession, and which continually positions the trial in legal and popular belief. I then look at specific moments of ‘anxiety’ where alterations to traditional procedure provoke debate as to the otherwise unnoticed or unarticulated value of live performance. In Chapter 4, I examine the growth of the private advocacy training industry that frequently positions lawyers as actors. Resistance to the idea of acting demonstrates the tainted status of performance terminology as well as legal agents’ belief that lawyers are acting naturally. I argue instead that lawyers have always been trained in acting: an habituated performance style I term legal naturalism. In Chapter 5, I examine the television broadcasting of trials. Some legal agents argue that broadcasting risks ‘theatricalising’ the trial—causing participants to ‘act up’. However, this overlooks the fact that the court has a long history as a source of popular entertainment. I argue that resistance to broadcasting also stems from a reluctance to remit control of the trial to external producers. Broadcasting invites greater scrutiny into a process that if not always fair, needs to be believed in as fair and has historically been tightly self-regulated by the legal field, through its reliance on live performance’s ‘essential’ quality—its inability to be captured and subsequent disappearance. In Chapter 6, I examine the debates around CCTV testimony, which demonstrate a consistency of belief in live or ‘face-to-face’ confrontation to produce juridical ‘Truth’ that can be traced back over 800 years. The final chapter of this thesis examines sexual assault trials. This chapter brings together all of these sources of anxiety. Although often termed ‘exceptional’, sexual assault trials highlight how essential live performance is to manufacturing the authority of ‘The Law’ through the weight given to demeanour assessment, and because these trials make visible the sustained symbolic violence characteristic of adversarial criminal trials that is particularly traumatic for sexual assault complainants. Examination of sexual assault trials also reveals the double-edged position of performance in the trial. The exploitation of the symbolic value of live performance is the source of much trauma, yet the performance of tradition is also essential to maintaining popular belief in the adversarial criminal jury trial

Strain-controlled electrophysiological wave propagation alters in silico scar-based substrate for ventricular tachycardia

Introduction: Assessing a patient’s risk of scar-based ventricular tachycardia (VT) after myocardial infarction is a challenging task. It can take months to years after infarction for VT to occur. Also, if selected for ablation therapy, success rates are low. Methods: Computational ventricular models have been presented previously to support VT risk assessment and to provide ablation guidance. In this study, an extension to such virtual-heart models is proposed to phenomenologically incorporate tissue remodeling driven by mechanical load. Strain amplitudes in the heart muscle are obtained from simulations of mechanics and are used to adjust the electrical conductivity. Results: The mechanics-driven adaptation of electrophysiology resulted in a more heterogeneous distribution of propagation velocities than that of standard models, which adapt electrophysiology in the structural substrate from medical images only. Moreover, conduction slowing was not only present in such a structural substrate, but extended in the adjacent functional border zone with impaired mechanics. This enlarged the volumes with high repolarization time gradients (≥ 10 ms/mm). However, maximum gradient values were not significantly affected. The enlarged volumes were localized along the structural substrate border, which lengthened the line of conduction block. The prolonged reentry pathways together with conduction slowing in functional regions increased VT cycle time, such that VT was easier to induce, and the number of recommended ablation sites increased from 3 to 5 locations. Discussion: Sensitivity testing showed an accurate model of strain-dependency to be critical for low ranges of conductivity. The model extension with mechanics-driven tissue remodeling is a potential approach to capture the evolution of the functional substrate and may offer insight into the progression of VT risk over time.<br/

A 38-year-old woman with necrotising cervical lymphadenitis due to Histoplasma capsulatum

Immunogenetics and cellular immunology of bacterial infectious disease

Recurrent respiratory tract infections (RRTI) in the elderly: A late onset mild immunodeficiency?

Transplantation and immunomodulatio

Susceptibility to mycobacterial disease due to mutations in IL-12R beta 1 in three Iranian patients

Immunogenetics and cellular immunology of bacterial infectious disease

Susceptibility to mycobacterial disease due to mutations in IL-12Rβ1 in three Iranian patients

In the last decade, autosomal recessive interleukin-12 receptor β1 (IL-12Rβ1) deficiency, the most common cause of Mendelian susceptibility to mycobacterial disease (MSMD), has been diagnosed in a few children and adults with severe tuberculosis in Iran. Here, we report three cases referred to the Immunology, Asthma and Allergy ward at the National Research Institute of Tuberculosis and Lung Diseases (NRITLD) at Masih Daneshvari Hospital from 2012 to 2017 with Mycobacterium tuberculosis and non-tuberculous mycobacteria infections due to defects in IL-12Rβ1 but with different clinical manifestations. All three were homozygous for either an IL-12Rβ1 missense or nonsense mutation that caused the IL-12Rβ1 protein not to be expressed on the cell membrane and completely abolished the cellular response to recombinant IL-12. Our findings suggest that the presence of IL-12Rβ1 deficiency should be determined in children with mycobacterial infections at least in countries with a high prevalence of parental consanguinity and in areas endemic for TB like Iran