In response to major research initiatives in genetics, the government has invested significantly in new programmes of research and development for NHS staff (Department of Health (DH) 2003. Nurses may feel that these programmes have not yet impacted on their area of practice and are unlikely to for some time. Other priorities may be felt to be more important. This article considers the impact of genetics on the work of nurses who care for children and young people. It introduces a short questionnaire which we are using to identify and fill any gaps in knowledge, training and resources for nurses to prepare them to 'realise the potential of genetics' (DH 2003) in their practice.
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| http://dx.doi.org/10.7748/paed.18.7.34.s26 | DOI Listing |
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Treatment of pediatric drug-resistant generalized epilepsy with responsive neurostimulation of the centromedian nucleus of the thalamus: A case series of seven patients.
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January 2025
Division of Pediatric Neurology, Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 8th Floor Faculty Pavilion, 4401 Penn Ave., Pittsburgh, PA 15224, United States. Electronic address:
Purpose: Responsive neurostimulation of the centromedian nucleus of the thalamus (CM RNS) is being investigated for treatment of drug-resistant generalized epilepsy with promising results. The aim of this study is to report outcomes of seven patients with pediatric-onset drug-resistant generalized epilepsy, including both genetic generalized epilepsy (GGE) and Lennox-Gastaut syndrome (LGS), who underwent treatment with bilateral CM RNS.
Methods: A retrospective chart review was performed for patients with drug-resistant generalized epilepsy who underwent treatment with bilateral CM RNS at Children's Hospital of Pittsburgh from 2020 to 2022.
A Comprehensive Atlas of AAV Tropism in the Mouse.
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Department of Integrative Physiology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:
Gene therapy with Adeno-Associated Virus (AAV) vectors requires knowledge of their tropism within the body. Here we analyze the tropism of ten naturally occurring AAV serotypes (AAV3B, AAV4, AAV5, AAV6, AAV7, AAV8, AAV9, AAVrh8, AAVrh10 and AAVrh74) following systemic delivery into male and female mice. A transgene expressing ZsGreen and Cre recombinase was used to identify transduction in a cell-dependent manner based on fluorescence.
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Genetic alterations play a pivotal role in leukemic clonal transformation, significantly influencing disease pathogenesis and clinical outcomes. Here, we report a novel fusion gene and investigate its pathogenic role in acute lymphoblastic leukemia (ALL). We engineer a transposon transfection system expressing the TOP2B::AFF2 transcript and introduce it into Ba/F3 cells.
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