Autism is a neurodevelopmental disorder characterized by impairments in social skills, language, and behavior. It is now clear that autism is not a disease, but a syndrome characterized by phenotypic and genetic complexity. The etiology of autism is still poorly understood. Available evidence from a variety of sources strongly suggests that many genetic disorders are frequently associated with autism for their similar phenotypes. Based on this fact, this review begins by highlighting several principal genetic syndromes consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, Pader-Willi syndrome, Rett syndrome, Down syndrome and Turner syndrome). These genetic disorders include both chromosome disorders and single gene disorders. By comparing the similar phenotype, protein marker and candidate genes, we might make some breakthrough in the mechanism of autism and other genetic disorders.

Autism is a neurodevelopmental disorder characterized by impairments in social skills, language, and behavior. It is now clear that autism is not a disease, but a syndrome characterized by phenotypic and genetic complexity. The etiology of autism is still poorly understood. Available evidence from a variety of sources strongly suggests that many genetic disorders are frequently associated with autism for their similar phenotypes. Based on this fact, this review begins by highlighting several principal genetic syndromes consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, Pader-Willi syndrome, Rett syndrome, Down syndrome and Turner syndrome). These genetic disorders include both chromosome disorders and single gene disorders. By comparing the similar phenotype, protein marker and candidate genes, we might make some breakthrough in the mechanism of autism and other genetic disorders.

0.05). Ac-cording to the classification criteria of ARIA in 2001, 26 children suffered from intermittent A(R22 mild cases,4 moderate-severe cases),while 22 suf-fered from persistent AR(10 mild cases,12 mod-erate-severe cases). Forty percent patients with AR also had bronchial asthma. Domestic decora-tion was an important factor in the induction of AR and 27.1% of the children with AR had inher-ent predisposition. CONCLUSION The prevalence rate of AR in children aged from 9 to 10 in Nanjing is 5.1 %. Strategy of prevention and treatment of AR should beworked out according to the epidemic feature of AR.

0.05). Conclusion: Although the mechanism of the correlation between upper and lower airway inflammatory diseases is not yet clear,chronic sinusitis and nasal polyposis may share some characteristics in involving the lower airway.

OBJECTIVE To observe the effect of administration intranasal corticosteroids on small airway disfunction for allergic rhinitis (AR) patients. METHODS AR patients with small airway disfunction were administrated intranasal corticosteroids for twelve weeks. Before treatment, nasal VAS, RQLQ were recorded, pulmonary function test were given. After therapy, VAS, RQLQ were obtained again at the 4th, 8th and 12th week. Pulmonary function test were performed at the 4th and 12th week. RESULTS VAS, RQLQ were all improved after therapy (P <0.01). The indices of FEV1/FVC%, MMEF pred%, MEF75pred%, MEF50pred%, MEF25pred%were also improved significantly (P<0.05), especially for MMEFpred%, MEF75pred%, MEF50pred% (P<0.01). CONCLUSION Small airway lesions can be obviously improved by the intranasal corticosteroids applied for AR. It has positive significance for preventing AR from developing into asthma.

Objective Our study was aimed to study the clinical effect of carbon dioxide laser in the treatment of adult laryn -geal papilloma . Methods Clinical data of patients with adult laryngeal papilloma received treatment at our hospital from January 2012 to June 2014 was retrospectively analyzed .Patients were divided into two groups according to the type of treatment , observation group:received carbon dioxide laser treatment;control group:received tumor forceps treatment .Participants included 61 cases of pa-tients, the observation group of 26 cases, control group 35 cases.Compare the general clinical data , short-term clinical effects(opera-tion time, length of hospital stay , complications , short-term curative effect ) , the change of immune inflammation indexes before and after operation and postoperative recurrence in 1 year of two groups patients. Results The operation time and the length of hospital stay in observation group was significantly lower than that in control group[(33.66 ±4.71)min vs (37.19 ±5.21)min,(4.07 ±1.25)d vs (4.83 ±1.38)d, P<0.05].On the 3th day, The levels of CRP、IL-6、TNF-αand IL-1βin observation group were ( 6.15 ±1.67 ) mg/L, (6.51 ±1.12)ng/L, (23.56 ±4.16)ng/L, (5.25 ±1.21) ng/L, those in control group were (12.20 ±3.41)mg/L, (15.63 ±
4.11) ng/L, (36.16 ±7.37) ng/L, (12.63 ±4.12) ng/L.The differences of these parameters between the two groups were signifi-cant (P<0.001).Observation group patients had a lower rate of recurrence 1 year after surgery than that of control group patients (12.00%vs 37.93%, P=0.029). Conclusion In the treatment of adult laryngeal papilloma , carbon dioxide laser can achieve a better minimally invasive and lower postoperative recurrence when compare to tumor forceps treatment .

Objective: To intensively investigate sporadic CMT patients, we have analyzed the LMNA gene in this study in a series of 32 unrelated CMT patients. Methods: Twelve exons of the LMNA gene were amplified from genetomic DNA. PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP). Results: No abnormal SSCP pattern, suggesting no mutation in our CMT patients, was detected. Conclusion: The CMT diseases resulted from the mutations of LMNA gene were rare.

Objective To study the feasibility of engineering cartilage tissue in a tube lined with epithelium and implanting allogenic chondrocytes into a novel scaffold consisting of chitosan nonwoven cloth coated with poly (DL-lactide-co-glycolide)(PLGA).The focus of the present study is to explore a new way of repairing laryngeal and tracheal defects.Methods Allogenic chondrocytes were obtained from the auricles of 1-month-old rabbits.After being cultured in vitro for three to four passages,the cells were implanted into the scaffolds to form composite grafts and then transplanted into the rabbits.After 6,12,and 18 weeks,the general,histological characteristics were investigated.Results The cobweb-like matrix was observed approximately 1 week after the chondrocytes had been implanted into the scaffolds.At 6 weeks,the matrix was secreted,and there were immature chondrocytes in the grafts.At 12 weeks,the allogenic cartilage in the tube lined with epithelium had been created.Chondrocytes were almost mature and the lacunae had formed.At 18 weeks,the neocartilage was similar to native cartilage.Conclusion It is feasible to fabricate allogenic cartilage in a tube lined with epithelium by implanting allogenic chondrocytes into a novel scaffold made of chitosan nonwoven cloth coated with PLGA.

0.05); The concentrations of NO in nasal polyp tissues was higher than that of the nasal mucosa in control group(P

OBJECTIVE To explore the therapeutic effect of modified uvulopalatopharyngoplasty(UPPP) combined with temperature-controlled radiofrequency ablation(TCRFA) in the treatment of moderate and severe obstructive sleep apnea hypopnea syndrome(OSAHS) . METHODS A total of 83 patients with moderate or severe OSAHS were underwent modified UPPPcombined with TCRFA. All patients were followed-up more than 2 years. Polysomnography was examined at 6 months,1 year and 2 years after operation. RESULTS The curative rate,obvious effective rate and effective rate were 28.9 %,33.7 % and 20.5 % respectively with a total effective rate of 83.1 % at 2 years after operation. The PSG showed that,the AHI values decreased signifi cantly(P