bluuebunny/crossref_metadata_2025_split huggingface dataset:
Observation of null alleles of microsatellite markers in a Chinese population
Authors: Wang Zhaoxi , Niu Tianhua , Lunetta K. L. , Xu Xin , Fang Zhian , Xu Xiping 
Published: March 2003

AbstractIntroduction  Genotyping of a set of microsatellite markers is often necessary to map genes for complex human diseases by linkage analysis. Presence of null alleles (such as a mutation in the primer‐binding sequence) can lead to pseudo‐deficiency of heterozygosity.Materials and methods  We completed a genomic scan using 367 autosomal markers on 1477 Chinese subjects in a total of 337 nuclear families. Two markers with apparent non‐Mendelian inheritance patterns were further investigated: marker GGAA15B08 results were re‐scored, and marker GATA29A01 was re‐genotyped using redesigned primers.Results  The GGAA15B08 marker was found to contain a relatively frequent (24.4%) 185‐bp allele in the Chinese that was previously treated as a ‘null allele’. Marker GATA29A01 contained a null allele due to a mutation within the annealing region of its reverse primer. With a pair of redesigned PCR primers, the null allele diminished. In this study, we have a power > 82% to detect null alleles of frequency 0.04 or greater.Discussion  The presence of GATA29A01 null alleles in this population was quite common (31.4%). Identification of markers with null alleles in our study has great implications in paternity testing, linkage analysis and forensic DNA testing. Particular care should be taken in analysing microsatellite genotype results to avoid this problem.
Charles Darwin, ichthyology and the species concept
Authors: Pauly Daniel 
Published: March 2003

AbstractThis contribution presents the ichthyological writings of Charles Darwin (1809–1882), by periods, viz. ‘the years prior to the voyage of the Beagle’ (about 1825–1830); ‘the Beagle years’ (1831–1836); ‘from the return of the Beagle to the Foundation of Origin’ (1837–1844); and ‘the mature Darwin’ (1845–1882). Overall, this material covers 45 000 words penned by Darwin, but represents only 0.7% of his lifetime output of about 6 million words, indicating a limited interest in fish. However, this sample, briefly described here, but analysed in great detail in a forthcoming volume on Darwin's Fishes, allows drawing inferences on Darwin's working style that were missed in conventional biographies. On the other hand, it is suggested, based on a close reading of the 6th (1876) edition of Origin, that Darwin was not particularly interested in the theoretical issues now associated with the species concept, nor indeed with other levels of the Linnean system.
The striatum in a putative cerebral network activated by verbal awareness in normals and in ADHD children
Authors: Lou H.C. , Andresen J. , Steinberg B. , McLaughlin T. , Friberg L. 
Published: March 2003

The aim of the present study was to evaluate the striatum's involvement in verbal awareness (semantic processing and supra‐modal attention) in normals and children with attention deficit hyperactivity disorder (ADHD). Our previous finding of striatal hypoperfusion in ADHD at rest, supports our prediction that the striatum will also show reduced activation in response to tasks requiring verbal awareness.Regional cerebral blood flow (rCBF) was studied with the Xenon133 SPECT method in 12 boys with ADHD and six normal controls. The experimental controls included: (1) White Noise, (2) Passive Listening to a series of animal names, and (3) Detection of Targets (“dangerous animals”) from the same series of animal names. The conditions were selected to isolate the semantic processing (Passive Listening – White Noise) and supra‐modal attention components (Detection of Targets – Passive Listening of verbal awareness).ADHD children had decreased rCBF in the right striatum when compared to normals (mean difference from grand mean of each subject 8.06 ml/100 g/min vs 14.16 ml/100 g/min, p < 0.05).Factor analysis of the rCBF data revealed high factor I loadings for the frontal and striatal regions, which, in conjunction with the nature of the experimental conditions supported the inference that factor I mediated verbal awareness. Factor scores, which summarized the activity of all of the regions of interest (ROI's) on factor I, were differentially affected by the language component of the experimental tasks. Function scores were derived from factor I for the anterior cingulum and infero‐frontal regions to evaluate their respective involvement in supra‐modal attention and semantic processing. Function scores were also developed for the striatum, because of its central location and potential role in ADHD. The anterior cingulum was activated by supra‐modal attention. The infero‐frontal and the striatal regions were both activated by the language demands of the tasks. However, the striatum demonstrated reduced function scores (p < 0.05) in ADHD for all tasks.Our finding that the anterior gyrus cinguli were activated by supramodal attention and that the infero‐frontal and striatal regions were activated by semantic processing supports the involvement of these ROI's in verbal awareness. Furthermore, the depressed functional contribution of the striatum to verbal awareness in ADHD children is consistent with and helps to explain their reduced cognitive control over behaviour and mental function.
Cerebral embolism in a patient with polycythemia rubra vera
Authors: Segura T. , Serena J. , Teruel J. , Dávalos A. 
Published: March 2003

Polycythemia rubra vera (PRV) is a rare haematological disorder that has a high risk of stroke, although the pathophysiological origin of the cerebral ischaemia in this disease is not well known.We report a case of a stroke patient with PRV in whom bilateral embolic signals were detected by transcranial Doppler (TCD). Cerebral computed tomography showed a cortical middle cerebral artery infarction, echocardiography was normal, duplex‐scan showed moderate left carotid stenosis and digital angiography disclosed right siphon stenosis. TCD examinations in the acute phase repeatedly showed a great number of bilateral microembolic signals (MESs). Four months later magnetic resonance angiography showed no flow signal in the right siphon and a severe stenosis of the proximal right MCA.The detection of bilateral MESs in the absence of cardiac sources of embolism observed in this patient suggests that ischaemic cerebral events in PRV may have an embolic origin favoured by a prothrombotic state.
Clinical application of transcranial colour‐coded duplex sonography – a review
Authors: Zipper Stephan G. , Stolz Erwin 
Published: March 2003

Transcranial colour‐coded duplex sonography (TCCS) is a new and non‐invasive ultrasound application that combines both imaging of intracranial vessels and parenchymal structures at a high spatial resolution.This manuscript reviews the clinical applications of TCCS with focus on its diagnostic abilities in acute stroke patients. Furthermore, new experimental imaging techniques are discussed.
Maurice Ravel and right‐hemisphere musical creativity: influence of disease on his last musical works?
Authors: Amaducci L. , Grassi E. , Boller F. 
Published: March 2003

The problem of finding correspondence between a particular neuronal organization and a specific function of the human brain remains a central question of neuroscience. It is sometimes thought that language and music are two sides of the same intellectual coin, but research on brain‐damaged patients has shown that the loss of verbal functions (aphasia) is not necessarily accompanied by a loss of musical abilities (amusia). Amusia without aphasia has also been described. This double dissociation indicates functional autonomy in these mental processes. Yet verbal and musical impairments often occur together. The global picture that emerges from studies of music and its neural substrate is by no means clear and much depends on which subjects and which aspect of musical abilities are investigated.An illustration of these concepts is provided by the case of the French composer Maurice Ravel, who suffered from a progressive cerebral disease of uncertain aetiology, with prominent involvement of the left hemisphere. As a result, Ravel experienced aphasia and apraxia and became unable to compose. The available facts favour a clinical diagnosis of primary progressive aphasia (PPA), with the possibility of an overlap with corticobasal degeneration (CBD).In view of Ravel’s clinical history, we propose that two of his final compositions, the Bolero and the Concerto for the Left Hand, include certain patterns characteristic of right‐hemisphere musical abilities and may show the influence of disease on the creative process.
Parallel stigma? Nurses and people with learning disabilities
Authors: Mitchell Duncan 
Published: March 2003

SummaryThe present paper discusses the history of learning disability nursing in the context of its development within the nursing profession and its relationship with people with learning disabilities. The study provides a brief sketch of the development of learning disability nursing as a discrete branch of the nursing profession before exploring its history in the light of theories of marginalization and stigma. Although the present author recognizes the profound differences between the history of people with learning disabilities and those paid to care for them, he seeks to establish some common ground on the basis of parallel stigma.
Presentation, assessment and treatment of depression in a young woman with learning disability and autism
Authors: Long Karen , Wood Harry , Holmes Nan 
Published: March 2003

SummaryThe association between autism and affective disorders in adults with learning disability (LD) is reviewed, alongside a discussion of some of the problems identified with the accurate differential diagnosis of depression in individuals with more severe impairment. This case study describes the presentation, differential diagnosis and treatment of a young woman with a severe LD, autism and depression. Behavioural factors which were felt to reflect this individual's depressive disorder, but which are not usually associated with the diagnosis of depression, are highlighted. Further work on the development and refinement of a reliable method of assessing depression in individuals with LD and autism is discussed.
Measuring client participation in individual programme planning meetings
Authors: Alexander Michelle , Hegarty John R. 
Published: March 2003

SummaryClients should participate in their individual programme planning (IPP) meetings, but the question is: Do they? It would help staff in supporting their clients if a simple method were available for measuring client participation. The present article describes the development of such a method and its use with one client in a routine IPP meeting. An IPP participation checklist (IPPPC) was developed to assess the participation of one client, Mr B, who has limited verbal communication skills, at his IPP meeting. A questionnaire for staff was also devised to gauge their perceptions of Mr B's participation at the same meeting. Mr B actively participated in much of the meeting; the IPPPC highlighted areas in which he did not participate. Staff members' ratings of his participation were in close agreement. Client attendance at a meeting does not guarantee active participation. The IPPPC shows how far the client has participated in specific aspects of a meeting. It may be possible to increase client participation by the introduction of keyworker meetings, management support and IPP guidelines. The regular use of the IPPPC described in the present paper will guide staff in what to look for when assessing participation and may be especially valuable during staff training.
Development of a specialized psychiatric service for people with learning disabilities and mental health problems: report of a project from Kwai Chung Hospital, Hong Kong
Authors: Kwok Henry W. M. 
Published: March 2003

SummaryWith the promotion of the concepts of normalization and integration, the mental health needs of people with learning disabilities are increasingly being recognized in Hong Kong. The present paper describes the development of a specialized psychiatric unit in Kwai Chung Hospital that was designed to provide mental health care for people with learning disabilities. A hospital‐based system with multidisciplinary input and strong community linkage was adopted to suit the local situation, and this was funded almost entirely by redistributing existing resources. Since the service came into operation, the responses received from patients, carers and other service providers in the community have been highly favourable. This project is important because it signifies a major step forward in the health care of people with learning disabilities in Hong Kong.
Barriers to accessing leisure opportunities for people with learning disabilities
Authors: Beart Suzie , Hawkins Debbie , Kroese Biza Stenfert , Smithson Paul , Tolosa Inigo 
Published: March 2003

SummaryFive focus groups (i.e. small discussion groups consisting of service users) were held within a variety of specialized services for people with learning disabilities. The aim of these focus groups was to determine which leisure opportunities young people and adults (≥ 16 years) with a mild/moderate learning disability currently accessed, which activities they would wish to access and the perceived barriers to leisure access. It was found that participants undertook a wide variety of community‐based leisure pursuits. Many of these activities took place in day centre time, as opposed to genuine leisure time. A range of activities which participants would wish to try in the future were identified. However, there were a number of perceived barriers which would make it difficult to access these opportunities. All five groups identified these barriers as being a lack of transport and carer/friend support. This is in line with previous research. Only two out of the five groups saw money as a barrier to accessing leisure opportunities.
An investigation into carers' perceptions of the verbal comprehension ability of adults with severe learning disabilities
Authors: Banat D. , Summers S. , Pring T. 
Published: March 2003

SummaryThe present paper reports the findings of a study into care staff perceptions of the language comprehension levels of adults with learning disabilities. Members of staff were asked to estimate their clients' comprehension of sentences at different levels of difficulty and these estimates were compared with actual test results obtained from the clients. Differences between the estimates and the actual scores increased with the difficulty of the sentences. At the highest level of difficulty, staff consistently overestimated the clients' ability, while both under‐ and overestimation occurred at the lower levels. These findings have implications for the care of and acquisition of skills by people with learning disabilities, and for the training of care staff.
A preliminary investigation into staff satisfaction, and staff emotions and attitudes in a unit for men with learning disabilities and serious challenging behaviours
Authors: Bell Dorothy M. , Espie Colin A. 
Published: March 2003

AbstractPeople with learning disabilities who also exhibit challenging behaviour live in a social context that should be considered in order to understand and deal with their behaviours. This context includes the characteristics of staff members, and their satisfaction with the whole culture and environment in which they work. The social context will also affect and be affected by staff emotions and attitudes towards the residents in that living environment. The present paper describes a preliminary investigation into staff satisfaction, and staff emotions and attitudes towards residents in a traditional setting for people with both learning disabilities and serious challenging behaviours and it discusses the implications for future research. The findings indicate that staff satisfaction was low and could be improved considerably in terms of management support. However, the level of satisfaction in working with the residents in the unit was high, as were the perceptions of practical support from immediate colleagues. The results also showed the coexistence of different attitudes and emotions which could be described as positive and negative in individual staff members. To assess this, the present authors used a new, 13‐item analogue measure, the Attitudes to People Who Display Challenging Behaviour questionnaire. The level of such attitudes and feelings in this particular context did not vary noticeably relative to whether staff members felt well supported by the service or not. This new measure may well have applications in future research in this area.
Springfield: education for adults with learning disabilities
Authors: Logan Ellis 
Published: March 2003

SummaryThe present paper gives an overview of some of the modular day courses offered and, in some cases, developed by tutors at a former hospital school providing education to adults with severe learning disabilities. The aims of the courses were cognitive and personal development, as well as aesthetic and spiritual enrichment. Art history was offered as an activity within the Open University ‘Learning Disability − Working as Equal People’ course, and the students' responses to paintings were deep and remarkable. In a play‐writing course, tutors acted as ‘writing hands’ and the resultant plays were given a rehearsed reading. Some poetry was also produced.
Dilemmas in the community risk management of sexually offensive behaviour
Authors: Robertson John , Clegg Jennifer 
Published: March 2003

SummaryA small group of experienced community workers providing risk management for men with learning disabilities who sexually offend was studied. Attribution statements participants made about their risk appraisals were analysed using the Leeds Attributional Coding System (LACS). Results highlight the effort participants made to obtain sufficient information. They focused on factors external to the service‐user for most effective risk management, but their confidence was undermined by other staff minimizing the importance of such risks. Services that fail to develop specialist risk assessment skills and to address the modest ‘economics of effort’ required for effective practice may compromise risk management by community staff.
The use of the Personal Home Page by adults with Down's syndrome as a tool for managing identity and friendship
Authors: Seale Jane K. , Pockney Rebecca 
Published: March 2003

SummaryThere has been considerable debate regarding whether people with a learning disability should be encouraged to develop friendships with disabled or nondisabled people and what influence this might have on their sense of identity. It is also increasingly recognized that the Personal Home Page is a useful tool for making contact with potential friends and for managing identity. This paper explores the extent to which people with Down's syndrome are using Personal Home Pages to make and maintain friendships and, thus, say something about the self‐image they wish to portray. The Personal Home Pages of five Internet Service Providers were sampled and 16 Personal Home Pages of adults with Down's syndrome were found that referred in some way to friendships. A thematic analysis of these pages indicated that the authors could be attempting to present an image of themselves as someone who is capable of having friends. Analysis of the guest‐book messages also revealed that the readers of the Home Pages were responding to these attempts at initiating a relationship. Further work needs to be done to develop the sampling methodology in order to enable further exploration of what influences the publication of these Home Pages.
Invasion of a karst aquifer by hydrothermal fluids: evidence from stable isotopic compositions of cave mineralization
Authors: Bottrell S. H. , Crowley S. , Self C. 
Published: March 2003

AbstractMineral deposits in the Cupp‐Coutunn/Promeszutochnaya cave system (Turkmenia, central Asia) record a phase of hydrothermal activity within a pre‐existing karstic groundwater conduit system. Hydrothermal fluids entered the caves through fault zones and deposited sulphate, sulphide and carbonate minerals under phreatic conditions. Locally, intense alteration of limestone wall rocks also occurred at this stage. Elsewhere in the region, similar faults contain economic quantities of galena and elemental sulphur mineralization. Comparisons between the Pb and S isotope compositions of minerals found in cave and ore deposits confirm the link between economic mineralization and hydrothermal activity at Cupp‐Coutunn. The predominance of sulphate mineralization in Cupp‐Coutunn implies that the fluids were more oxidized in the higher permeability zone associated with the karst aquifer. A slight increase in the δ34S of sulphate minerals and a corresponding δ34S decrease in sulphides suggest that partial isotopic equilibration occurred during oxidation. Carbonate minerals indicate that the hydrothermal fluid was enriched in 18O (δ18OSMOW ∼ + 10‰) relative to meteoric groundwater and seawater. Estimated values for δ13CDIC (δ13CPDB ∼ − 13‰) are consistent with compositions expected for dissolved inorganic carbon (DIC) derived from the products of thermal decomposition of organic matter and dissolution of marine carbonate. Values derived for δ13CDIC and δ18Owater indicate that the hydrothermal fluid was of basinal brine origin, generated by extensive water–rock interaction.Following the hydrothermal phase, speleothemic minerals were precipitated under vadose conditions. Speleothemic sulphates show a bimodal sulphur isotope distribution. One group has compositions similar to the hydrothermal sulphates, whilst the second group is characterized by higher δ34S values. This latter group may either record the effects of microbial sulphate reduction, or reflect the introduction of sulphate‐rich groundwater generated by the dissolution of overlying evaporites. Oxygen isotope compositions show that calcite speleothems were precipitated from nonthermal groundwater of meteoric origin. Carbonate speleothems are relatively enriched in 13C compared to most cave deposits, but can be explained by normal speleothem‐forming processes under thin, arid‐zone soils dominated by C4 vegetation. However, the presence of sulphate speleothems, with isotopic compositions indicative of the oxidation of hydrothermal sulphide, implies that CO2 derived by reaction of limestone with sulphuric acid (‘condensation corrosion’) contributed to the formation of 13C‐enriched speleothem deposits.