Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship.

An autosomal dominant disease characterised by amyotrophy of predominantly distal upper limb muscles and mild pyramidal features is described. There are sensory changes in older patients, whilst in others the disease presents itself as a disorder of motor neurons. Owing to variations in the clinical picture, it may be difficult to distinguish this disease in individual patients from distal spinal muscular atrophy, or from pure pyramidal syndromes. There is an overlap in clinical signs between this disease and peroneal muscular atrophy with pyramidal features. Whether or not the latter two conditions are genetically distinct, is a matter of doubt.     

The use of terrestrial and aquatic microcosms and mesocosms for the ecological risk assessment of veterinary medicinal products

In this paper, we investigate the applicability of experimental model ecosystems (microcosms and mesocosms) for the ecological risk assessment of veterinary medicinal products (VMPs). VMPs are used in large quantities, but the assessment of associated risks to the environment is limited, although they are continually infused into the environment via a number of routes. It is argued that the experience obtained by pesticide research largely can be used when evaluating VMPs, although there are several major differences between pesticides and pharmaceuticals (e.g., knowledge of their mechanisms of action on nontarget organisms). Also, because microorganisms are often the target organisms of VMPs, risk assessment should focus more on endpoints describing functional processes. This paper provides a review of the current risk assessment schemes of Europe and North America along with examples of experiments already performed with veterinary medicinal products in aquatic and terrestrial ecosystem models. We suggest that some of the approaches developed for pesticide risk assessment can be used for VMPs and offer suggestions for the development of a framework for ecological risk assessment of VMPs.     

Gender‐related changes in increase of dopaminergic neurons in the olfactory bulb of Parkinson's disease patients

Gender differences in dopaminergic related neurodegenerative diseases have hardly been studied until now. It is generally accepted that more men than women suffer from Parkinson's disease. One of the most prevalent symptoms in Parkinson's patients, hyposmia, does not show gender differences, while normally the sense of smell is better developed in females. Whether the change in dopamine in the olfactory bulb contributes equally to hyposmia in male and female Parkinson's patients is the subject of the present study. In a stereological study the total number of tyrosine hydroxylase immunoreactive neurons in the olfactory bulbs of male and female Parkinson's patients and age‐matched controls has been estimated. The present stereological study shows that the number of tyrosine hydroxylase positive cells in control females is significantly lower than those in control males. The number of dopaminergic cells in the olfactory bulbs of both male and female Parkinson's patients equals that of healthy males of the same age group. We therefore conclude that the hyposmia in Parkinson's disease patients cannot simply be ascribed to dopamine in the olfactory bulb. © 2008 Movement Disorder Society     

Influences on positive family involvement in aged care: an ethnographic view

This paper examines the experiences of family members who have previously been primary carers of residents of residential aged care services to identify factors, which have encouraged them to remain involved in a caring role. The context for this study was a residential aged care facility in Western Australia that was selected on the basis of its reputation of being highly sought after by relatives requiring formal care for older family members and also having a high level of ongoing involvement of relatives. Findings from the study provide evidence of the importance of staff developing relationships with relatives, supporting relatives through the change process and developing care partnerships where relatives could define new caring roles in providing social and emotional support for residents. This study is part of a larger study investigating relational quality in aged care environment.     

Accelerated immune red cell destruction in the absence of serologically detectable alloantibodies

Two patients are described in whom clinically significant red blood cell alloantibodies could be demonstrated only by in vivo 51chromium (51Cr) survival studies. The first patient had experienced a severe delayed hemolytic transfusion reaction to four units of crossmatch compatible blood. Serial phenotype studies suggested the presence of a serologically undetectable anti-c (hr') antibody. 51Cr survival of c- positive red blood cells was one per cent at 24 hours, while survival of c-negative red blood cells was 80 per cent at 24 hours. The second patient had multiple red blood cell alloantibodies. An anti-c antibody was suspected but could not be convincingly demonstrated by in vitro techniques. 51Cr survival of c-positive red blood cells, however, was 57 per cent at 24 hours and 17 per cent at 48 hours. 51Chromium red blood cell survival studies should be considered whenever an unexplained hemolytic transfusion reaction occurs, or when an expected red blood cell alloantibody cannot be demonstrated by in vitro laboratory studies.     

Catechol‐O‐methyltransferase val158met and cognitive function in Parkinson's disease

Cognitive dysfunction is one of the most incapacitating non‐motor symptoms of Parkinson's disease (PD). Some cognitive deficits are thought to be related to abnormal dopamine homeostasis. The latter is influenced by catechol‐O‐methyltransferase (COMT), an enzyme that degrades dopamine. Previous research suggests a relationship between the COMT val158met functional polymorphism (SNP) and measures of executive function. We evaluated this hypothesis in a cohort of PD patients with an extensive neuropsychological test battery. Cognitive assessment and COMT genotyping were performed in 153 early PD patients from outpatient clinics general hospitals in the Netherlands. Our results do not support a direct effect of COMT val158met genotype on performance on neuropsychological measures of attention and executive function, but they suggest that genotype may interact with dopaminergic medication use to influence cognitive ability. © 2010 Movement Disorder Society