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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly ex

Rodent models of treatment-induced motor complications in Parkinson's disease

Treatment-induced motor complications represent a major clinical problem in Parkinson's disease (PD). Pharmacological dopamine (DA) replacement with l-dopa causes motor fluctuations and abnormal involuntary movements (dyskinesia) in the vast majority of the patients. Intrastriatal grafts of embryonic dopaminergic neurons can cause dyskinesia too, as shown by clinical trials of neural transplantati

Chapter 22 - Rodent Models of Treatment-Related Complications in Parkinson Disease

Dopamine replacement therapy effectively relieves the typical motor features of Parkinson disease (PD), but it can cause complications that limit its utility. Dyskinesia (abnormal involuntary movements) and motor fluctuations (abrupt changes in the patients' motor status) occur in most PD patients after a few years of 3,4-dihydroxyphenyl-. l-alanine (l-DOPA) pharmacotherapy. Animal models reproduc

Unilateral varus osteotomy of the proximal femur in children with cerebral palsy : a five-year follow-up of the development of both hips

BACKGROUND: Varus osteotomy of the proximal femur (VOPF) is one treatment option to prevent hip dislocation in children with cerebral palsy (CP). It is questioned whether the osteotomy should be performed in the displaced hip only, or if it should be performed bilaterally to prevent later displacement of the contralateral hip. CPUP is a register and healthcare programme for children with CP that w

"My Husband Usually Makes Those Decisions" : Gender, behavior, and attitudes toward the marine environment

Human behavior impacts the environment we live in. In order to better understand how one group, boat owners, in three Nordic countries adjacent to the Baltic Sea; Sweden, Finland and Denmark, viewed the relationship between the marine environment, leisure boats and issues of responsibility, a survey study was conducted (n = 1701). The results show that there are differences between gender in many

A Brief Survey of the Work Being Performed by Crisis Organisations in European Union Member States on Climate Change Effects

The negative effects of climate change are calling for action to mitigate and adapt to future challenges. National crisis management authorities need to prepare to handle crisis caused by direct or indirect effects. In this study, we investigate how crisis management authorities within the European Union prepare for the effects of climate change by conducting a small questionnaire study. The quest

Risk and Gender : Daredevils and Eco-Angels

Through history and in most cultures differences between men and women have been observed and expressed in various ways. Also in our society differences between men and women are evident and this becomes particularly clear in the context of risk perception. This chapter will present three models that are found in the research literature that aim at explaining these differences. The first model foc

Covert chemicals, tangible trust : Risk management of chemicals in the workplace

In Sweden, as in other industrialised nations, occupational exposure limits are considered to be an important tool for chemical risk management, although many other factors also play a role in occupational safety and health management. The aim of this study was to investigate the role of occupational exposure limits in relation to information about, and the risk perception of, chemicals. An interv