bluuebunny/crossref_metadata_2025_split huggingface dataset:
Copy number variation in chemokine superfamily: the complex scene ofCCL3L–CCL4Lgenes in health and disease
Authors: Colobran R , Pedrosa E , Carretero-Iglesia L , Juan M 
Published: July 2010

SummaryGenome copy number changes (copy number variations: CNVs) include inherited, de novo and somatically acquired deviations from a diploid state within a particular chromosomal segment. CNVs are frequent in higher eukaryotes and associated with a substantial portion of inherited and acquired risk for various human diseases. CNVs are distributed widely in the genomes of apparently healthy individuals and thus constitute significant amounts of population-based genomic variation. Human CNV loci are enriched for immune genes and one of the most striking examples of CNV in humans involves a genomic region containing the chemokine genes CCL3L and CCL4L. The CCL3L–CCL4L copy number variable region (CNVR) shows extensive architectural complexity, with smaller CNVs within the larger ones and with interindividual variation in breakpoints. Furthermore, the individual genes embedded in this CNVR account for an additional level of genetic and mRNA complexity: CCL4L1 and CCL4L2 have identical exonic sequences but produce a different pattern of mRNAs. CCL3L2 was considered previously as a CCL3L1 pseudogene, but is actually transcribed. Since 2005, CCL3L-CCL4L CNV has been associated extensively with various human immunodeficiency virus-related outcomes, but some recent studies called these associations into question. This controversy may be due in part to the differences in alternative methods for quantifying gene copy number and differentiating the individual genes. This review summarizes and discusses the current knowledge about CCL3L–CCL4L CNV and points out that elucidating their complete phenotypic impact requires dissecting the combinatorial genomic complexity posed by various proportions of distinct CCL3L and CCL4L genes among individuals.
Constrained tomography of realistic velocity models in microseismic monitoring using calibration shots
Authors: Bardainne T. , Gaucher E. 
Published: July 2010

ABSTRACTThe knowledge of the velocity model in microseismic jobs is critical to achieving statistically reliable microseismic event locations. The design of microseismic networks and the limited sources for calibration do not allow for a full tomographic inversion. We propose optimizing a priori velocity models using a few active shots and a non‐linear inversion, suitable to poorly constrained systems. The considered models can be described by several layers with different P‐ and S‐wave velocities. The velocities may be constant or have 3D gradients; the layer interfaces may be simple dipping planes or more complex 3D surfaces. In this process the P‐ and S‐ wave arrival times and polarizations measured on the seismograms constitute the observed data set. They are used to estimate two misfit functions: i) one based on the measurement residuals and ii) one based on the inaccuracy of the source relocation. These two functions are minimized thanks to a simulated annealing scheme, which decreases the risk of converging to a local solution within the velocity model.The case study used to illustrate this methodology highlights the ability of this technique to constrain a velocity model with dipping layers. This was performed by jointly using sixteen perforation shots recorded during a multi‐stage fracturing operation from a single string of 3C‐receivers. This decreased the location inaccuracies and the residuals by a factor of six. In addition, the retrieved layer dip was consistent with the pseudo‐horizontal trajectories of the wells and the background information provided by the customer. Finally, the theoretical position of each calibration shot was contained in the uncertainty domain of the relocation of each shot. In contrast, single‐stage inversions provided different velocity models that were neither consistent between each other nor with the well trajectories. This example showed that it is essential to perform a multi‐stage inversion to derive a better updated velocity model.
Vaccination against hepatitis B in preschool children with Down's syndrome
Authors: VAJRO P. , LETTERA P. , FONTANELLA A. , SBREGLIA C. , MANZILLO E. , SARTORIO R. , DEL GIUDICE E. 
Published: July 2010

ABSTRACT.Twenty‐nine healthy HBsAg‐ and HBsAb‐negative children with Down's syndrome who were living at home (mean age 42 months; 19 M, 10 F) were vaccinated against hepatitis B virus either with recombinant DNA or plasma‐derived vaccine. Both groups of children responded well to the vaccination schedules, with HBsAb seroconversion rates close to 100%. Vaccination against hepatitis B in preschool children with Down's syndrome is effective in spite of the existing abnormalities of the immune function.
Appraised significance of intellectual disability for parents of children in three age cohorts: exploring the stress process
Authors: BAXTER C. 
Published: July 2010

ABSTRACTThe conceptualization of stress as a process involving stressors, mediators and manifestations of stress has opened up a way of more systematically investigating the impact of perceptions on stress experienced by parents of children with intellectua disabilities. Results obtained at the end of the first part of a two‐stage panel design study indicate that appraised significance perceptions of parents are potentially exacerbating mediators of parental stress. Findings of a multiple regression analysis were interpreted as being consistent with the proposition that the parent‐appraised significance of the child's disability for their parental role becomes increasingly salient as an exacerbating mediator of parental stress during the later childhood to early adolescent years. An attempt will be made to test this proposition when the children in the 3–5 year old cohort moves into the 10–12 year‐old age category.
Increases in knowledge following a course of sex education for people with intellectual disabilities
Authors: LINDSAY W. R. , BELLSHAW E. , CULROSS G. , STAINES C. , MICHIE A. 
Published: July 2010

ABSTRACTAlthough sex education programmes are thought to be useful in reachitig people with intellectual disabilities, tbere is very little evidence tbat the material taught is retained by clients. This paper reports data whicb has been collected routinely on a sex education programme. Forty‐six subjects were assessed on their level of sexual knowledge in seven areas: parts of the body, masturbation, male puberty, female puberty, intercourse, pregnancy and childbirth, and birth control and venereal disease. They were retested after a 9‐month sex education programme and tested again at a 3‐month followup. A control group of 14 subjects were tested on two occasions, 4 months apart. There were significant and substantial increases in sexual knowledge on all areas for the experimental group. The control group showed no corresponding increases in knowledge.
Differences in purine metabolism in patients with Down's syndrome
Authors: PEETERS M. A. , MEGARBANE A. , CATTANEO F. , RETHORE M.‐O. , LEJEUNE J. 
Published: July 2010

ABSTRACT.Three enzymes intervening in de novo purine synthesis, as well as cystathionine B‐synthetase, have been mapped to chromosome 21. In order to gain a better understanding of purine synthesis anomalies in Down's syndrome, the present authors studied the variations in mitotic index of lymphocyte cultures to which various inhibitors or metabolites of purine synthesis had been added. In spite of common gene dosage effects, unexpected and highly significant differences were noted between Down's syndrome patients without complications and those presenting with additional psychotic features. In Down's syndrome patients without complications, a highly significant decrease in mitotic index was noted in the presence of exogenous inosine. A significant decrease in the presence of adenosine and guanosine was also noted. These findings are in keeping with the expected metabolic repercussions of genes mapped to chromosome 21. In Down's syndrome patients with psychotic complications, the in vitro reactions were quite different. A paradoxal increase in mitotic index was noted in the presence of inosine and of adenosine, but the response to guanosine did not differ from that observed in normal controls. These findings were unexpected and seem to indicate that, in spite of the gene dosage effect, psychotic Down's syndrome patients are unable to compensate abnormal purine synthesis and resulting imbalances. Furthermore, a marked difference in purine metabolic reactions was noted between Down's syndrome patients receiving supplemental folic/folinic acid and those on no therapy. This suggests that some modulation of the gene dosage effect may be possible.
Psychometric analysis in children with mental retardation due to perinatal hypoxia treated with fibroblast growth factor (FGF) and showing improvement in mental development
Authors: AGUILAR L. C. , ISLAS A. , ROSIQUE P. , HERNANDEZ B. , PORTILLO E. , HERRERA J. M. , CORTES R. , CRUZ S. , ALFARO F. , MARTIN R. , CANTU J. M. 
Published: July 2010

ABSTRACTBasic fibroblast growth factor (bFGF) has shown a neuroirophic effect in the neurons of several CNS areas. In vivo, it contributes to restore neurochcmical and morphological deficits in different rodent models of brain damage, including rats with brain damage induced by hypoxia/ischemia when FGF was intramuscularly (i.m.) administered. Toxicological and immunological studies performed in rats, mice and volunteers showed no evidence of side‐effects. Bovine FGF was i.m. administered in children with mental retardation caused by perinatal hypoxia, aged 1–15 years, at dosages of 0–4 or 0–28 μ.g kg−1, once or twice a month, over 7–12 months. Group A [n= 12; 6 treated (T), 6 controls (Ct)], group B (n= 16; 8 T, 8 Ct) and group C (n = 67; 45 T, 22 Ct) were evaluated with the P. A. R. scale, the WISC‐RM and the Gesell scale, respectively. Development increased significantly in treated children from groups A (P < 0.02) and C (P < 0.001), and IQrose by more than 10 points (P < 0.001) in group B patients.
The origin of excessive daytime sleepiness in the Prader‐Willi syndrome
Authors: HELBING‐ZWANENBURG B. , KAMPHUISEN H. A. C. , MOURTAZAEV M. S. 
Published: July 2010

ABSTRACTThe polygraphically recorded sleep‐wake continuum of 21 Prader‐Willi syndrome (PWS) patients was compared with that of 19 normal people. In the Prader‐Willi group, excessive daytime sleepiness (EDS) is found in 95% of subjects, and rapid eye movement (REM) sleep disorders occur in 52%. These two features were significantly different from the normal group of subjects. No indications were found for the presence of the apnoea syndrome. The REM sleep disorders are: sleep onset rapid eye movements (SOREM), REM sleep in naps, many arousals during REM sleep, and a significant decrease in total REM sleep. These disturbances in the Prader‐Willi group, combined with the presence of EDS and sometimes of cataplexy, are likely to be expressions of a narcoleptic syndrome although this was not sustained by the HI‐A‐DR2 expression above normal. The quality of life of PWS subjects can be improved in some cases by treating them as narcoieptic patients.
Complete recovery of cytochrome oxidase and superoxide dismutase activities in the brain of brindled mice receiving copper therapy
Authors: YOSHIMURA N. , HATAYAMA I. , SATO K. , NISHIMURA M. 
Published: July 2010

ABSTRACTTo elucidate the roles played by copper‐containing en2yines in the brain degeneration associated with Menkes disease, the brains of brindled mouse hemizygotes (BMs) were studied histochemically and biochemically before and after copper therapy. Light and electron microscopic histochemistry revealed that, while neuronal mitochondria in BM brains demonstrate only a weak diaminobenzidine reaction for cytochrome oxidase, these exhibit strong activity after therapy and in control mice. Biochemical assays of enzyme activity revealed only 30% of the normal level before a single subcutaneous application of 50 |jLg of CuCb, whereas neuronal mitochondria of BMs surviving 8 months after the copper therapy displayed essentially no difference from the controls. Similar results were also gained for superoxide dismutase activity, although the reduction was less marked. The present findings provide direct support for decreased activities of copper‐containing enzymes being responsible for the mitochondrial abnormalities and brain degeneration associated with Menkes disease.
Development, behaviour and seizures in 300 cases of tuberous sclerosis
Authors: HUNT A. 
Published: July 2010

ABSTRACTThree hundred cases of tuberous sclerosis were surveyed by postal questionnaire, including 240 cases with learning difficulties. People who have tuberous sclerosis and severe learning disabilities also have a higher frequency of epileptic seizures than people with learning difficulties from all causes. Pervasive developmental disorder and hyperactive behaviour are behavioural features of the disorder. Sleep problems and the level of vigilant care required because of seizures or behaviour have implications on the level of service needed to support people with tuberous sclerosis in the community.
Service use among school leavers with severe learning difficulties: the views of carers
Authors: INEICHEN B. 
Published: July 2010

ABSTRACTSchool leaving is a time when difficult decisions have to be taken. Difficulties are likely to be particularly complex when the school leaver has severe learning difficulties. Carers of 61 young people living in one East London Health District were interviewed about their child's experience of service use at around the time of school leaving. The timing of school leaving appears to have been well handled, and the experience of those who went on to further education was positive. The school social work service was greatly appreciated. On the debit side, many informants were critical of the quality of short‐term residential care. The commonest concern was for the prompt availability of day care. As in the few other studies of this subject, the impression that services appeared uncoordinated was given by carers.
Asperger's syndrome: three cases and a discussion
Authors: SIMBLETT G. J. , WILSON D. N. 
Published: July 2010

ABSTRACTThe recently revived academic interest in and controversy over the subject of Asperger's syndrome is briefly discussed. Gillberg & Gillberg's operational criteria for its definition are used to isolate three cases of the syndrome presenting over a single year to a mental handicap service. The cases are described in detail. Common themes and associations with the available literature are discussed. In all three cases, the struggle for clarity in the syndrome's nature or specificity in the literature is also reflected in aspects of their clinical management.
An analogue assessment of hand stereotypies in two cases of Rett syndrome
Authors: WEHMEYER M. , BOURLAND G. , INGRAM D. 
Published: July 2010

ABSTRACTStereotype hand movements are one behavioural manifestation of Rett syndrome, a neurodegenerative disorder resulting in severe mental retardation. They are neuropathological in origin, and constitute a barrier to the acquisition and exhibition of more developmentally appropriate behaviours, as well as posing a health risk for some individuals. The present study used an analogue assessment procedure, in which experimental conditions were constructed varying in the consequences delivered contingent upon the exhibition behaviour, to examine environmental correlates to the moment‐to‐moment expression of these behaviours. Results are discussed regarding their implications for intervention and research into the aetiology of stereotypic behaviours.
Normalized growth velocity in children with Down's syndrome during growth hormone therapy
Authors: ANNERÉN G. , GUSTAFSSON J. , SARA V. R. , TUVEMO T. 
Published: July 2010

ABSTRACTBetween 6 months and 3 years of age, growth velocity in children with Down's syndrome (DS) is markedly reduced in comparison to that of healthy children. However, after 3 years of age, it is almost normal. Thus, growth retardation becomes pronounced during the period when growth hormone (GH) starts to regulate growth. The present authors report the long‐term effects of GH‐therapy in 16 children with DS, who are being treated for 3 years from the age of 6–9 months. The treatment, Genotropin®, 0–1 U kg−1 BW day−1, was started at a mean age of7.4 (6.9) months. The results after 12 (n= 16), 24 (n= 12) and 30 (n = 8) months are presented. The mean height standard deviation score, SDS (range; Swedish standard), before therapy was ‐ 1.8 (−0.5 to −3.1) and the mean head circumference was −1.2 (−0.4 to −3.5). After 12, 24 and 30 months, the mean height SDS were −1.1 (−0.8 to −1.9), −0.9 (0 to −1.5) and −0.9 (0.1 to ‐ 1.5) and the mean head circumference SDS were −1.1 (0 to −2.5), ‐ M (0 to −2.2) and −1.2 (−0.5 to −2.0), respectively. During hGH‐treatment, the children with DS thus gained height during the first year, and then followed the growth rate of healthy Swedish children. When compared to growth charts for children with DS the mean height of these children started at the fiftieth centile and reached the ninety‐fifth centile after 24 months of treatment. Head circumference only slightly increased during the therapy, and not to the same extent as height. This indicates that small head circumference in DS is not only an effect of growth retardation, but also due to microcephaly.
A longitudinal study of cognitive skills and communication behaviours in children with Rett syndrome
Authors: WOODYATT G. C. , OZANNE A. E. 
Published: July 2010

ABSTRACTChanges in the cognitive, communicative and interactive development of a group of six girls with Rett syndrome (three younger and three older) were documented over a 3‐year period. All six maintained a profound level of intellectual performance and a preintentional level of communication in which caregivers assigned meaning to the girls' limited behaviours. However, marked individual variation was noted in both cognitive and social interaction skills. The study supported the notion of an increased perception of social interactiveness by the caregivers over time. The development of means‐end behaviour, in particular, seems closely linked with the measured Increase in behaviours inferred as communicative. However, the results also show that factors such as cogniiive level, physical status and educational intervention may be related to this perception.
Diagnosis and treatment of psychiatric and behavioural disorders in mentally retarded individuals: the state of the art
Authors: DOšen A. 
Published: July 2010

ABSTRACTIt is now well known that a higher proportion of people with mental retardation show behavioural and psychiatric disorders compared to their non‐mentally retarded counterparts. However, the exact relationship between psychiatric illness and behavioural disorder in this population is far from clear. There are problems of using the standard diagnostic and classification categories in this population, particularly in those who are severely and profoundly mentally retarded. Recently, there have been many novel approaches to this diagnostic dilemma, including ‘developmental approach’ and ‘psychodynamic approach’. In the Netherlands, the so‐called ‘developmentaldynamic’ approach has been used in the diagnosis and treatment of behavioural and psychiatric disorders in the mentally retarded. There have also been many treatment approaches, including drug therapy, behavioural treatment, psychotherapy, cognitive and social learning. Also the Dutch, Swiss and German traditions have extensive experience in the directive pedagogical treatment of the mentally retarded.
Mental health services for people with mental retardation: a framework for the future
Authors: Day K. A. 
Published: July 2010

ABSTRACTThe mental health needs of mentally retarded people cannot be met satisfactorily with generic mental health services. Specialized services are required. A number of different service models have evolved which require evaluation. They include subregional units, community‐based services with a small admission facility, integrated services and specialist teams. Staff working in specialist mental health services must be appropriately trained.
Behaviour problems in Angelman syndrome
Authors: Summers J. A. , Allison D. B. , Lynch P. S. , Sandier L. 
Published: July 2010

AbstractAngelman syndrome (AS) is a genetic disorder that is associated with a deletion on chromosome 15, and is characterized by abnormalities or impairments in neurological, motor and intellectual functioning. While behaviour problems have been reported iri clients with AS, relatively little is known about their developmental course and outcome. In this study, data on the nature and prevalence of behaviour problems among clients with AS were gathered from two sources: (i) a review of published case reports; and (2) parent responses to a survey of behaviour problems in a small (n= 11) sample of children with AS. Data from both sources showed that behaviour problems were present in males and females of all ages, and included language deficits, excessive laughter, hyperactivity, short attention span, problems with eating and sleeping, aggression, noncompliance, mouthing of objects, tantrums, and repetitive and stereotyped behaviour. Identification and treatment of severe behaviour problems in clients with AS may improve their adaptive functioning.
Measurement of attitudes of trainee professionals to people with disabilities
Authors: Beckwith J. B. , Matthews J. M. 
Published: July 2010

AbstractThe importance of measuring attitudes of trainee professionals to people with disabilities was addressed. A questionnaire which included the Scale of Attitudes towed Disabled Persons (SADP) and the Intellectual Disability Misconceptions Scale (IDMS) was completed by first and final year tertiary students enrolled in a 3‐year course on intellectual disability. The attitude measures did not discriminate between the two groups of students, psychometric properties were poor and the factor structure of the SADP did not replicate previous findings. As expected, there was some convergence between the two attitude measures, and relationships to subject variables were consistent with previous research. Recommendations for subsequent research were discussed.
Personality and trait disturbances in an adult mental retardation population: significance for psychiatric management*
Authors: Goldberg B. , Gitta M. Z. , Puddephatt A. 
Published: July 2010

AbstractThe authors demonstrate the high prevalence of personality disorders in 384 intellectually impaired individuals examined in both community and institutional settings in southwestern Ontario, Canada. The relationship of specific clusters of personality disorders to later onset of psychiatric disorders in intellectually impaired individuals is suggested. New approaches to the management of personality disorders are noted utilizing clinical case studies. Differences and similarities in nomenclature in American and International diagnostic classifications are illustrated in this study. The use of a detailed longitudinal and cross‐sectional collection of biological, social and standardized personality schedules is demonstrated as feasible in this special population.