Research advances in candidate genes for autism spectrum disorder / 中国当代儿科杂志

Autism spectrum disorder (ASD) is a kind of neurodevelopmental multigenic disorder. More than one hundred of candidate genes for ASD have been reported. The candidate gene research for ASD involves in chromosome loci and screening of candidate genes and epigenetic abnormalities for candidate genes. The reported genes encode neural adhesion molecules, ion channels, scaffold proteins, protein kinases, receptor protein and carrier protein, signaling modulate molecules and circadian relevant proteins. The research of mutation screening and expression regulation of candidate genes can help to elucidate genetic mechanisms for ASD, and may provide new approaches for the diagnosis and treatment of this disorder. This article reviews the research advance in candidate genes for ASD.

Six Cases of Pulmonary Cavity in Children / 实用儿科临床杂志

Objective To investigate the clinical feature,image of CT scan pulmonary,diagnosis and treatment response in children with pulmonary cavity,and discuss the method of diagnosis and the tactics of treatment for pulmonary cavity in children.Methods A retrospective study of 6 patients with pulmonary cavity,who were diagnosed and treated from Jul. 2003 to Oct. 2009 in Department of Pediatrics of the First Hospital Affiliated to China Medical University.The clinical manifestations,laboratory tests,image of CT scan pulmonary,microbiological evidence,diagnostic procedure and treatment response were collected and evaluated.Results Six patients all didn′t have history of lung di-sease,there were 4 boys and 2 girls,8-15 years old,average age was 10.5 years old.Two cases of them had unrelated pulmonary underlying diseases,1 case had hyperthyroidism,and the other had juvenile idiopathic arthritis and had complication of macrophage activation syndrome,the other 4 cases had no obvious history.All cases had fever (38-40 ℃),3 cases had cough and 1 case had chest pain.Staphylococcus aureus were cultured in 2 cases,no bacteria was cultured in other 4 cases;the count of white blood cell decreased in 2 cases and increased in 4 cases;C-reactive protein increased in 5 cases and was normal in 1 case;plasma IgE level increased in 2 cases and was normal in other 4 cases;plasma 1,3-beta-D-glucan of all 6 cases were negative.Pulmonary cavities were found in the first CT scan of the lungs in 5 cases and only 1 case of patient′s pulmonary cavities was found in the second CT scan of the lung.Five cases were diagnosed infective causes,1 case was diagnosed noninfectious cause,5 cases of infective causes had been treated with anti-microbial drugs for at least 1 week,1 case of noninfectious cause were treated with methylprednisolone cobined cyclosporin A for 2 weeks.Pulmonary CT scan was rechecked in all cases,and the state of the cases were improved before discharged from hospital.Conclusions The causes of pulmonary cavity in children are not only infective factors,but also some non-infective disease,especially some changes of image of pulmonary CT scan has diagnostic value,detailed past medical history and appropriate rechecking of chest radiographic check are very necessary for diagnosis,according to the result of microbial inspection and evaluation of treatment effect in time and then adjust the treatment protocols.