Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives.     

Automated three-dimensional analysis of histological and autoradiographic rat brain sections: application to an activation study.

Besides the newly developed positron emission tomography scanners (microPET) dedicated to the in vivo functional study of small animals, autoradiography remains the reference technique widely used for functional brain imaging and the gold standard for the validation of in vivo results. The analysis of autoradiographic data is classically achieved in two dimensions (2D) using a section-by-section approach, is often limited to few sections and the delineation of the regions of interest to be analysed is directly performed on autoradiographic sections. In addition, such approach of analysis does not accommodate the possible anatomical shifts linked to dissymmetry associated with the sectioning process. This classic analysis is time-consuming, operator-dependent and can therefore lead to non-objective and non-reproducible results. In this paper, we have developed an automated and generic toolbox for processing of autoradiographic and corresponding histological rat brain sections based on a three-step approach, which involves: (1) an optimized digitization dealing with hundreds of autoradiographic and histological sections; (2) a robust reconstruction of the volumes based on a reliable registration method; and (3) an original 3D-geometry-based approach to analysis of anatomical and functional post-mortem data. The integration of the toolbox under a unified environment (in-house software BrainVISA, http://brainvisa.info) with a graphic interface enabled a robust and operator-independent exploitation of the overall anatomical and functional information. We illustrated the substantial qualitative and quantitative benefits obtained by applying our methodology to an activation study (rats, n=5, under unilateral visual stimulation).     

Reconstruction of lateral skull base defects after tumor ablation.

Neoplasms located in the lateral skull base region present a challenge for evaluation and management due to their difficult anatomic location and the complex reconstruction that is required following extensive tumor resection. Repair following tumor ablation requires a watertight dural seal, obliteration of the dead space, and coverage with vascularized soft tissue. Advances in radiologic imaging, diagnostic pathology, and surgical techniques and a multidisciplinary team for tumor ablation and reconstruction have significantly improved the treatment of these patients, minimized the occurrence of postoperative complications, and maximized patient outcome and quality of life. In this article, we present our experience in the reconstruction of extensive lateral skull base defects after tumor ablation.     

A Disseminated Alveolar Rhabdomyosarcoma in a 9-Year-Old Boy Disclosed by Chromosomal Translocation (2;13) (q35;q14)

A 9-year-old boy presented with a small subcutaneous tumor of the trunk and diffuse bone marrow involvement. The first histological diagnosis given was undifferentiated malignancy possibly of neural crest origin and chemotherapy was started immediately using vincristine, cyclophosphamide, cisplatin, and teniposide (OPEC). Complete response was achieved after four courses of chemotherapy. Histological slides were then reviewed and the final diagnosis of alveolar rhabdomyosarcoma (RMS) was retained. Moreover, chromosome analysis of malignant cells in the bone marrow revealed a translocation involving chromosomes 2 and 13:t(2;13) (q35;q14). This specific karyotype finding has been recently reported in a few cases and could be specific for alveolar RMS. The patient had a relapse 7 months after diagnosis and died 4 months later.     

Ballon atrial septostomy under transesophageal echocardiographic guidance

Summary Balloon atrial septostomy is an established method of palliation for several forms of congenital heart disease. Previously performed under fluoroscopic x-ray control, recent reports have demonstrated the utility of transthoracic echocardiographic monitoring. We report the first application of uniplane transesophageal echocardiography (TEE) (6.7-mm probe) as an alternative imaging modality for control of ballon atrial septostomy on neonates in the intensive care unit.     

Midnight reckonings: on a question of knowledge and nursing

Abstract The paper contrasts understandings of knowledge grounded in Enlightenment norms with the departures from those norms taken by some strands of feminism and hermeneutics, as well as the contributions made by the writing of Michel Foucault. A reading of Foucault's writings on knowledge, power and the discursive constitution of self and world is offered as a potentially useful frame within which to raise questions about nursing, nurses and knowledge.