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1.
Context: Improved biomarkers would facilitate the diagnosis and treatment of autism spectrum disorders (ASD).

Objective: Our objective was to examine the levels of Nogo-A and glial fibrillary acidic protein (GFAP) in children with ASD.

Materials and methods: Serum concentrations of GFAP and Nogo-A were determined by enzyme-linked immunosorbent assay.

Results: In this preliminary study, we found that serum Nogo-A was not found significantly different between groups, while serum levels of GFAP were significantly lower in ASD than controls.

Discussion and conclusions: It will be of great interest to determine other potential causes of elevated serum levels of GFAP, and whether this elevation has any phenotypic effect.  相似文献   

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This paper considers how environmental threat may contribute to the child's use of avoidant strategies to regulate negative emotions, and how this may interact with high emotional reactivity to create vulnerability to conduct disorder symptoms. We report a study based on the hypothesis that interpreting others' behaviours in terms of their motives and emotions-using the intentional stance-promotes effective social action, but may lead to fear in threatful situations, and that inhibiting the intentional stance may reduce fear but promote conduct disorder symptoms. We assessed 5-year-olds' use of the intentional stance with an intentionality scale, contrasting high and low threat doll play scenarios. In a sample of 47 children of mothers with post-natal depression (PND) and 35 controls, children rated as securely attached with their mothers at the age of 18 months were better able to preserve the intentional stance than insecure children in high threat scenarios, but not in low threat scenarios. Girls had higher intentionality scores than boys across all scenarios. Only intentionality in the high threat scenario was associated with teacher-rated conduct disorder symptoms, and only in the children of women with PND. Intentionality mediated the associations between attachment security and gender and conduct disorder symptoms in the PND group.  相似文献   

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(1) How does the quality of life of patients with ADHD treated in an ambulatory care setting compare to that of other patient groups in child and adolescent psychiatry? (2) Can differences in the quality of life be demonstrated between patients with simple disorders of activity and attention and those with hyperkinetic conduct disorders? (3) How does the quality of life in these patient groups change over one year of treatment? The Inventory for the Assessment of Life Quality in Children and Adolescents (Inventar zur Untersuchung der Lebensqualität von Kindern und Jugendlichen, ILK) was applied to a sample of 726 patients derived from nine different outpatient practices for child and adolescent psychiatry. Among them were 196 patients with a simple disorder of activity and attention and 64 with a hyperkinetic conduct disorder. A comparison between these two groups was the main aim of the study. The mean age of the patients in the sample (all diagnoses) was 8.7 ± 3 years. The two groups of hyperkinetic patients made up 35% of the overall sample, and both of them showed a marked male predominance. The hyperkinetic patients tended to have lower quality-of-life scores than patients in the other diagnostic groups. Longitudinal observation revealed improvements in the quality of life across all patient groups, but the patients with hyperkinetic disorders (both groups) improved the least. The parents of the hyperkinetic patients, too, reported suffering greater stress because of their children’s condition than the parents of children with other types of disorders. The ILK instrument has test-metrical qualities that render it usable and capable of holding its own among other, comparable instruments. It can be used to assess the quality of life of children with various diagnoses. Children with ADHD tend to have the least favorable quality-of-life scores, yet they do show some degree of improvement in their quality of life after a year of treatment.  相似文献   

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174 serum ferritin assays in 121 patients with various haemolytic disorders have been performed. The mean serum ferritin levels were significantly increased in all these disorders in contrast to healthy controls. The highest serum ferritin levels were found in pyruvate kinase (PK) deficiency, moderate increase was observed in hereditary sphaerocytosis (HS) and in autoimmune haemolytic anaemia (AIHA) with massive haemolysis and in glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Mild elevation of serum ferritin levels was depicted in paroxysmal nocturnal haemoglobinuria (PNH), in beta thalassaemia minor and in other types of haemoglobinopathies. The range of values was associated with a degree of haemolysis and its relation to duration of the disease was not apparent in most cases. Highly significant differences between serum ferritin levels in splenectomized and non-splenectomized patients with HS and between serum ferritin levels in patients with AIHA with massive haemolysis or in remission were found. As compared to normal controls, significant increase of serum ferritin levels was observed even in patients with AIHA in remission or in splenectomized patients with HS. In two patients with PK deficiency the levels exceeding 2,000 micrograms/l indicated manifest iron overload. A reliability of serum ferritin assay as an index of iron stores in haemolytic disorders has been discussed.  相似文献   

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Segregation analysis of schizophrenia and related disorders   总被引:2,自引:0,他引:2  
Segregation analysis was applied to 79 nuclear families ascertained through chronic schizophrenic probands. Analysis was performed on the diagnosis of schizophrenia alone and on schizophrenia and schizotypal personality disorder (milder phenotype) combined. The models used were the transmission probability model and the mixed model. Because the disease is associated with reduced fertility, all likelihoods were calculated conditional on parental phenotypes. However, compatibility of the mating-type distribution predicted by each model with the observed was also examined. In all analyses, results suggested consistency with genetic transmission. In the analysis of schizophrenia alone, discrimination among models was difficult. In the analysis including the milder phenotypes, all single-locus models without polygenic background were excluded, while pure polygenic inheritance could not be eliminated. The polygenic model also gave good agreement with supplementary observations (lifetime disease incidences, mating-type distribution, and monozygotic twin concordance). The estimated components of variance for the polygenic model were: polygenes (H) 81.9%; common sib environment (B) 6.9%; random environment (R) 11.2%. Although the polygenic model was parsimonious, segregation analysis and the supplementary observations were also consistent with a mixed model, with a single major locus making a large contribution to genetic liability. Such a locus is more likely to be recessive than dominant, with a high gene frequency and low penetrance. The most likely recessive mixed model gave the following partition of liability variance: major locus, 62.9%; polygenes, 19.5%; common sib environment, 6.6%; and random environment, 11.0%.  相似文献   

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Serum hyaluronidase aberrations in metabolic and morphogenetic disorders   总被引:1,自引:0,他引:1  
Hyaluronidases are endo-glycosidases that degrade both hyaluronan (hyaluronic acid) (HA) and chondroitin sulfates. Deficiency of hyaluronidase activity has been predicted to result in a phenotype similar to that observed in mucopolysaccharidosis (MPS). In the present study, we surveyed a variety of patients with phenotypes similar to those observed in MPS, but without significant mucopolysacchariduria to determine if some are based on aberrations in serum hyaluronidase (Hyal-1) activity. The study included patients with well-characterized dysmorphic disorders occurring on genetic basis, as well as those of unkown etiology. The purpose of the study was to establish how wide spread were abnormalities in levels of circulating Hyal-1 activity. A simple and sensitive semi-quantitative zymographic procedure was used for the determination of activity. Levels of both beta-N-acetylglucosaminidase and beta-glucuronidase whose activities contribute to the total breakdown of hyaluronan (HA) were also measured, as well as the concentration of circulating HA. Among 48 patients with bone or connective tissue abnormalities, low levels of Hyal-1 activity were found in six patients compared to levels in 100 healthy donors (2.0-3.2 units/microL vs 6(+/- 1 SE) units/microL). These six patients exhibited a wide spectrum of clinical abnormalities, in particular shortened extremities: they included three patients with unknown causes of clinical symptoms, one patient with Sanfilippo disease, one of the seven patients with achondroplasia, and one with hypophosphotemic rickets. Normal levels of serum Hyal-1 activities were found in patients with Morquio disease, GM1 gangliosidosis, I cell-disease, 6 of the 7 patients with achondroplasia, Marfan's-syndrome and Ehlers-Danlos syndrome. No patient totally lacked serum Hyal-1 activity. Serum HA concentration was elevated in patients with Sanfilippo A and I-cell disease. Determination of serum and leukocyte Hyal-1 and serum HA may be useful to evaluate patients with metabolic and morphogenetic disorders.  相似文献   

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A possible role for zinc deficiency in some cases of growth retardation in southern France was investigated. Control values for zinc for 160 children (age=12.5±2.4 yr) are 0.85±0.22 mg/L (mean ±2 SD). Twenty-five children with low serum zinc values (<0.63 mg/L) and 25 matched short children with normal serum zinc values (>0.63 mg/L) were studied. Children in the two groups did not differ significantly in age, pubertal development, stature, and weight. For the 25 children whose serum values were low, we found significantly lower values for bone age delay, growth velocity in mm/month, as well as the ratio between calculated growth velocity and theoretical growth velocity for the bone age (so that zincemia was correlated to these parameters in the whole sample of 50 subjects). Nevertheless, no significant difference could be found between the two groups for serum somatomedin C, serum osteocalcin values, and GH responses to the GH stimulatory tests (exercise test, overnight sampling, insulin-induced hypoglycemia, arginine test). Therefore, low serum zinc is associated with a retardation in both somatic growth and pubertal maturation.  相似文献   

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Quantitative analysis of changes in the autocorrelation structure of EEG short segments (in the range of several seconds) was performed in healthy adolescents (n = 39) and adolescents with schizophrenia spectrum disorders (n = 39). The variability of the EEG autocorrelation structure was shown to be higher in patients with the greatest trend in the frontal leads. It is suggested that psychopathology of the schizophrenia spectrum is accompanied by a break in the mutual determination of cortical neural networks with predominant localization of this process in the frontal areas of the brain cortex.  相似文献   

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To facilitate deciphering the information content in the glycome, thin film-coated photoactivatable surfaces were applied for covalent immobilization of glycans, glycoconjugates, or lectins in microarray formats. Light-induced immobilization of a series of bacterial exopolysaccharides on photoactivatable dextran-coated analytical platforms allowed covalent binding of the exopolysaccharides. Their specific galactose decoration was detected with fluorescence-labeled lectins. Similarly, glycoconjugates were covalently immobilized and displayed glycans were profiled for fucose, sialic acid, galactose, and lactosamine epitopes. The applicability of such platforms for glycan profiling was further tested with extracts of Caco2 epithelial cells. Following spontaneous differentiation or on pretreatment with sialyllactose, Caco2 cells showed a reduction of specific glycan epitopes. The changed glycosylation phenotypes coincided with altered enteropathogenic E. coli adhesion to the cells. This microarray strategy was also suitable for the immobilization of lectins through biotin-neutravidin-biotin bridging on platforms functionalized with a biotin derivatized photoactivatable dextran. All immobilized glycans were specifically and differentially detected either on glycoconjugate or lectin arrays. The results demonstrate the feasibility and versatility of the novel platforms for glycan profiling.  相似文献   

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Research indicates that recurrent dreams in adults are associated with impoverished psychological well-being. Whether similar associations exist in children remains unknown. The authors hypothesized that children reporting recurrent dreams would show poorer psychosocial adjustment than children without recurrent dreams. One hundred sixty-eight 11-year-old children self-reported on their recurrent dreams and on measures of psychosocial adjustment. Although 35% of children reported having experienced a recurrent dream during the past year, our hypothesis was only partially supported. Multivariate analyses revealed a marginally significant interaction between gender and recurrent dream presence and a significant main effect of gender. Univariate analyses revealed that boys reporting recurrent dreams reported significantly higher scores on reactive aggression than those who did not (d = 0.58). This suggests that by age 11 years, the presence of recurrent dreams may already reflect underlying emotional difficulties in boys but not necessarily in girls. Challenges in addressing this developmental question are discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   

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