Objective: To explore the genetic basis for a patient with autism. Methods: High-throughput sequencing was carried out to detect copy number variations in the patient. Results: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. Conclusion Partial deletion of the NRXN1 gene may underlie the disease in this patient.

OBJECTIVE: To explore the genetic basis for a patient with autism. METHODS: High-throughput sequencing was carried out to detect copy number variations in the patient. RESULTS: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. CONCLUSION Partial deletion of the NRXN1 gene may underlie the disease in this patient.
Autistic Disorder ; genetics ; Cell Adhesion Molecules, Neuronal ; genetics ; DNA Copy Number Variations ; Gene Deletion ; Humans ; Male ; Nerve Tissue Proteins ; genetics

This study was aimed to observe the curative effect and safety of Danzhi Jiangtang Capsule ( DJC ) combined with atorvastatin on carotid artery intima-media thickness (IMT) in diabetes patients without hyper-tension . A total of 196 diabetes patients without hypertension with incrassate carotid artery IMT were randomly divided into the control group ( 98 cases ) and the treatment group ( 98 cases ) . The conventional diabetes thera-py was given to both groups . The atorvastatin of 20 mg/night was given to the control group . And the atorvas-tatin 20 mg/night added with DJC 9 . 0 g/night were given to the treatment group . The treatment course was
12 months . Carotid artery IMT , carotid atherosclerotic plaque area , FPG , FIns , HOMA-IR , HbA1c , blood lipids , hepatorenal function and etc . were examined before and after the treatment respectively . The results showed that there was a significant positive correlation between carotid artery IMT and FIns , HOMA-IR , HbAlc , LDL-C . After 12-month treatment , the total effectiveness is 85 . 87% in the treatment group . And there was significant difference compared with the control group ( P < 0 . 05 ) . The levels of FPG , FIns , HOMA-IR , HbAlc of the treatment group had no difference compared with the control group . Compared with the control group, TC and LDL-C of the treatment group was obviously decreased (P < 0.05). And HDL-C was significantly increased ( P < 0 . 05 ) . The carotid artery IMT of the treatment group decreased from ( 0 . 11 ±0 . 01 ) cm to ( 0 . 08 ± 0 . 01 ) cm . And compared with the control group , there was statistical significance ( P <0 . 05 ) . The carotid atherosclerotic plaque area of 58 cases in the treatment group decreased from ( 0 . 37 ±0.56) cm2 to (0.21 ± 0.25) cm2. However, there was no statistical significance compared to the control group. There were 5 adverse events in the control group and 9 adverse events in the treatment group . And there was no difference between two groups. It was concluded that DJC combined with atorvastatin can regulate lipid metabolism and reduce carotid artery IMT .

Objective: To observe the effect of cancer nursing plan based on risk concept on complications, self-care ability and quality of life of patients with cervical cancer undergoing radiotherapy. Methods: Totally 68 patients with cervical cancer undergoing radiotherapy from February 2016 to February 2018 were included in the study. According to the random method of drawing lots, they were divided into two groups, 34 cases each. The control group was given routine nursing intervention, while the observation group was given cancer nursing plan based on risk concept. The intervention time was from the day of admission to the end of discharge. Comparing the incidence of complications between the two groups, the self-care ability implementation scale and the Chinese version of the World Health Organization quality of life scale were used to evaluate the self-care ability and quality of life before and after the intervention. Results: The incidence of complications was 14.70% (5/34) in the observation group and 38.23% (13/34) in the control group, with statistically significant difference (t=4.836, P<0.05).Before intervention, there was no significant difference in scores of each sub-item and total score of self-care ability implementation scale between the two groups (t=0.336-1.224, P>0.05). After intervention, the health knowledge level, self-concept, self-responsibility, self-care skills and total score of the observation group were (48.37±4.10), (27.56±4.12), (26.56±5.09), (29.54±5.87), (132.02±19.15) points, respectively. After intervention, the scores of the above dimensions and the total scale in the control group were (44.10±3.74), (24.16±3.47), (20.40±4.12), (24.13±3.65) and (112.78±14.97) points, respectively, with statistically significant differences (t=3.680-5.485, P<0.05). Before intervention, there was no significant difference in sub-item scores and total scores of QOL between the two groups (t=0.151-0.996, P>0.05); After the intervention, the observation group physiological, psychological, social relations, the environment and total score of (24.85±2.63), (21.34±2.73), (20.76±2.47), (19.07±2.45), (86.02±10.27) points and the control group was (19.09±2.03) points, (17.65±2.13), (17.29±2.30), (16.38±2.37), (70.41±8.82) points, the difference had statistical significance (t=4.601-10.109, P<0.05). Conclusion Tumor care plan based on risk concept can reduce the incidence of complications related to radiotherapy for cervical cancer patients, and improve their self-care ability and quality of life.

Isolation rearing (IR) enhances aggressive behavior, and the central serotonin (5-hydroxytryptamine, 5-HT) system has been linked to IR-induced aggression. However, whether the alteration of central serotonin is the cause or consequence of enhanced aggression is still unknown. In the present study, using mice deficient in central serotonin Tph2 and Lmx1b, we examined the association between central serotonin and aggression with or without social isolation. We demonstrated that central serotonergic neurons are critical for the enhanced aggression after IR. 5-HT depletion in wild-type mice increased aggression. On the other hand, application of 5-HT in Lmx1b mice inhibited the enhancement of aggression under social isolation conditions. Dopamine was downregulated in Lmx1b mice. Similar to 5-HT, L-DOPA decreased aggression in Lmx1b mice. Our results link the serotoninergic system directly to aggression and this may have clinical implications for aggression-related human conditions.