Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The cause of autism is unknown. Recently, it has been suggested that it involves metabolic disorders of serotonin and/or dopamine. On the other hand, there is a close relationship between hormone secretion and monoamines. The aim of this study was to analyze the secretion of GH, PRL, TSH, cortisol, LH and FSH. The subjects were 30 children with autism, 25 males and 5 females, aged from 1 10/12 to 9 10/12 years. Their IQs (DQs) ranged from 34 to 123. Pituitary hormone secretion was measured during provocation with insulin (0.1 unit/kg), TRH (10 micrograms/kg) and/or LH-RH (100 micrograms/m2) in 26 of 30 cases. Control subjects included 16 age-matched children with attention deficit disorder (ADD) and 18 age-matched children with mental retardation (MR) without autistic and organic central nervous diseases. The 24-hour secretion rhythm of GH, PRL and cortisol for 14 cases with autism and of LH and FSH for 9 cases was also investigated. In insulin provocation test, the peak values of GH and delta GH (peak GH level minus baseline GH level) in ADD were significantly higher than those in MR (p less than 0.05). In TRH provocation test, the peak values of TSH and delta TSH in autism were significantly lower than those in MR. Five cases of autistic children revealed borderline responses for TSH, while the only one each of ADDs and MRs revealed borderline responses for TSH. In a study of the 24-hour hormone secretion rhythm, eleven of the 14 autistic children showed an abnormal secretion rhythm.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Neuroendocrinologic studies on autism]. 271 59

This study evaluated the ability of the Child Behavior Checklist and the Teacher's Report Form to identify children with autism spectrum disorders (ASD), using a sample of children with ASD (n = 458), referred children without ASD (n = 1109) and children from the general population (n = 999). A ten items ASD scale was constructed using half of the sample and the ability of this scale to discriminate between children with ASD and the other children was tested for the CBCL and the TRF separately and together in the other half of the sample. Using a cut-off score of 8 the combined CBCL/TRF ASD scale demonstrated high predictive values (NPV 95%, PPV 73%) in identifying children with ASD and children in the general population sample. This might be an acceptable percentage of false positives in general screening, considering the chance that these children might have other behavioural, emotional, and developmental problems which also need psychiatric evaluation. In the referred population, using a cut-off of 13, PPV was 49% and NPV was 85%. The high NPV indicates that in a referred population the scale is especially good at identifying children who do not need evaluation with a more ASD-specific instrument.
Autism 2013 Sep
PMID:Using the Child Behavior Checklist and the Teacher's Report Form for identification of children with autism spectrum disorders. 2291 76

Thyrotropin-releasing hormone is a tripeptide that consists of 5-oxoproline, histidine, and proline. The peptide is rapidly metabolized by various enzymes. 5-Oxoproline is produced by enzymatic hydrolysis in a variety of peptides. Previous studies showed that 5-oxoproline could become a possible biomarker for autism spectrum disorders. Here we demonstrate the involvement of SLC16A1 in the transport of 5-oxoproline. An SLC16A1 polymorphism (rs1049434) was recently identified. However, there is no information about the effect of the polymorphism on SLC16A1 function. In this study, the polymorphism caused an observable change in 5-oxoproline and lactate transport via SLC16A1. The Michaelis constant (Km) was increased in an SLC16A1 mutant compared with that in the wild type. In addition, the proton concentration required to produce half-maximal activation of transport activity (K0.5, H (+)) was increased in the SLC16A1 mutant compared with that in the wild type. Furthermore, we examined the transport of 5-oxoproline in T98G cells as an astrocyte cell model. Despite the fact that 5-oxoproline is an amino acid derivative, Na(+)-dependent and amino acid transport systems scarcely contributed to 5-oxoproline transport. Based on our findings, we conclude that H(+)-coupled 5-oxoproline transport is mediated solely by SLC16A1 in the cells.
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PMID:Functional characterization of 5-oxoproline transport via SLC16A1/MCT1. 2537 Dec 3