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Acute myeloid leukemia (AML) comprises a heterogeneous group of leukemias frequently defined by recurrent cytogenetic abnormalities, including rearrangements involving the core-binding factor (CBF) transcriptional complex. To better understand the genomic landscape of CBF-AMLs, we analyzed both pediatric (n = 87) and adult (n = 78) samples, including cases with RUNX1-RUNX1T1 (n = 85) or CBFB-MYH11
Direct in vivo gene transfer to the central nervous system (CNS) using recombinant lentiviral vectors (rLV) has emerged as a powerful technique to overexpress various genes of interest in different neuronal populations. This interest is exemplified by the increasing number of studies using rLV vectors to evaluate therapeutic proteins to correct disorders of the nervous system (1–3) or to explore a
For centuries antiquarians and archaeologists have tried to reconcile the terminology of ancient writers on architecture, such as Vitruvius, with the perceived realities of the material record. One particular issue of debate concerns the interpretation of different words for "brick" in Latin. In this paper it is argued that earlier attempts to settle this question are unsatisfactory and leave seve
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by typical motor symptoms that are caused by depletion of dopamine (DA) in the striatum. These symptoms are treated with the DA precursor L-DOPA, or with DA receptor (DAR) agonists. L-DOPA is the most efficacious treatment, but causes complications that limit its utility, in particular, dyskinesia (involuntary movements). Model
Solid oxide electrochemical cells (SOCs) are considered a highly promising technology for providing efficient, sustainable and economic conversion between chemical energy and electrical energy. SOCs can be operated as fuel cells, where electric power is obtained from fossil or non-fossil hydrocarbon fuels depending on the origin or as electrolysis cells, whereby using electrical energy from renewa
A fundamental problem in robotics is the generation of motion for a task. How to translate a task to a set of movements is a non-trivial problem. The complexity of the task, the capabilities of the robot, and the desired performance, affect all aspects of the trajectory; the sequence of movements, the path, and the course of motion as a function of time.This thesis is about trajectory generation a
Humlesugan, Betonica officinalis L., är en av den skandinaviska florans sällsyntaste växter och samtidigt en av de arter som har den längsta dokumenterade historien. Den rapporterades från Stehag väster om Ringsjön i Skåne av Christiern Pedersen redan 1534, Skånes äldsta litteraturuppgift där en växtart knyts till en lokal. I övriga Danmark beskrevs den med lokaluppgift första gången av Peder Laur
OBJECTIVE: Huntington disease (HD) is a fatal autosomal dominant, neurodegenerative condition characterized by progressively worsening motor and nonmotor problems including cognitive and neuropsychiatric disturbances, along with sleep abnormalities and weight loss. However, it is not known whether sleep disturbances and metabolic abnormalities underlying the weight loss are present at a premanifes
Data emerging from the International Collaborative Gaucher Group (ICGG) Gaucher Registry together with other contemporary clinical surveys have revealed a close association between Gaucher disease and non-Hodgkin's B-cell lymphoma and myeloma and Gaucher disease and Parkinson's disease. Several possible explanations for increased B-cell proliferation and neoplasia in Gaucher disease have been prop
Unlike most neurodegenerative disorders, individuals at risk from Huntington's disease can be identified prior to the onset of clinical signs of the disease by virtue of it being an autosomal dominant condition. This provides the hypothetical opportunity to delay disease onset and/or slow down the progression of the disease in the very early stages ahead of overt features of disease. To help prepa
BACKGROUND: Deficits in emotional processing can be detected in the pre-manifest stage of Huntington's disease and negative emotion recognition has been identified as a predictor of clinical diagnosis. The underlying neuropathological correlates of such deficits are typically established using correlative structural MRI studies. This approach does not take into consideration the impact of disrupti
A Movement Disorder Society (MDS) taskforce recently proposed diagnostic criteria for Parkinson's disease with features of mild cognitive impairment (PD-MCI). This study first examined the prevalence and nature of PD-MCI in a non-demented cohort using the MDS criteria. Using the generic Monte Carlo simulation method developed by Crawford and colleagues (2007), this study then estimated the base ra
BACKGROUND: There is a wealth of evidence detailing gray matter degeneration and loss of cognitive function over time in individuals with Huntington's disease (HD). Efforts to attenuate disease-related brain and cognitive changes have been unsuccessful to date. Multidisciplinary rehabilitation, comprising motor and cognitive intervention, has been shown to positively impact on functional capacity,
Genetic variation is associated with differences in the function of the brain as well as its susceptibility to disease. The common H1 haplotypic variant of the microtubule-associated protein tau gene (MAPT) has been related to an increased risk for Parkinson's disease (PD). Furthermore, among PD patients, H1 homozygotes have an accelerated progression to dementia. We investigated the neurocognitiv
The ability to successfully replace lost nigral dopaminergic neurons in Parkinson's disease (PD) has been clearly shown with fetal ventral mesencephalic transplants, albeit inconsistently. The need to trial this approach with stem-cell-derived neurons is approaching, but it should only commence when all the key issues have been adequately resolved.
BACKGROUND: Although the association between cytosine-adenine-guanine (CAG) repeat length and age at onset of Huntington's disease is well known, improved prediction of onset would be advantageous for clinical trial design and prognostic counselling. We compared various measures for tracking progression and predicting conversion to manifest Huntington's disease.METHODS: In this prospective observa
