Infantile neuroaxonal dystrophy (INAD) is a rare autosome-recessive disease characterized by progressive motor and cognitive regression.The PLA2G6 gene is its causative gene,which encodes calcium-independent phospholipase A2 enzyme (iPLA2-VIA).The diagnosis of INAD is difficult because of its clinical heterogeneity,and the rate of misdiagnosis is high.The purpose of this study is to describe the clinical characteristics,molecular genetics,treatment and prognosis of INAD to improve the acknowledgement of INAD in medical workers and to help make an early diagnosis of INAD.

Objective: To summarize the clinical features and gene variation characteristics of a child with Okur-Chung syndrome caused by CSNK2A1 gene variation. Methods: The medical records of one patient who was diagnosed with Okur-Chung syndrome in Department of Pediatrics, Xiangya Hospital of Central South University in July 2018 were analyzed. Using "CSNK2A1" gene as the keyword, relevant information about CSNK2A1 gene was searched at CNKI, Wangfang Data, OMIM, PubMed, ClinVar, Decipher (until August 2018). The characteristics of CSNK2A1 gene variation and the clinical phenotype of children with Okur-Chung syndrome were summarized. Results: The boy, 1 year and 8 months old, was sent to hospital at the age of 1 year and 6 months because of delayed growth for more than 1 year. He was susceptible to cough while eating or drinking. He was also suffering from constipation and poor sleep. Physical examination showed that his body weight was 10.2 kg, microcephalus, broad nasal bridge, micrognathia and hypotonia were observed. Whole exome-sequencing test identified a de novo heterozygous variation c.524A>G (p.D175G) in CSNK2A1 gene. This was the first case report of CSNK2A1 gene variation in the mainland of China. So far, a total of 52 cases were reported worldwide (52 single nucleotide variants), including 35 cases in 7 articles, 9 cases in Decipher database and 14 cases in ClinVar database, 6 of which were also reported in PubMed. In previously reported 52 cases, there were 48 missense variants, whereas, splice and frameshift variations were found in 3 cases and 1 case, respectively. Among the variation sites, p.K198R was the most common sites (12 cases), followed by p.R47 (6 cases), p.R80H (4 cases) and p.S51 (4 cases). Among these 52 cases, only 27 cases have been elaborately described in other studies, so the clinical characteristics were summarized in 28 cases eventually (including 27 cases in the articles and this patient), 27 of whom presented severe intellectual disability or global development delay, 1 case with mild language development delay, and 19 had hypotonia; 8 had autism spectrum disorders, 5 had attention deficit hyperactivity disorder, and 9 had sleep problems. 20 had dysmorphic facial features, 10 of them had microcephalus. 16 had failure to thrive or short stature, 12 had gastrointestinal or oromotor problem, 5 had immunological problem, and 4 had skin abnormalities. Conclusions The main clinical feature of patients with CSNK2A1 gene variations is intellectual disability with multiple systems involved, such as microcephalus, abnormal facial shape and hypotonia. The variation of CSNK2A1 gene is the cause of Okur-Chung syndrome. Missense variation is the main cause, and P. K198R is the hotspot variation.

Objective : To explore the antibacterial coating of polydimethylsiloxane⁃chlorhexidine gluconate (PDMS⁃CHXG) constructed on the smooth titanium surface and antibacterial properties for Porphyromonas gingivalis of CHXG solution with different concentrations. Methods : The titanium was polished to 7 000 mesh to mirror shape of abutment, cleaned and dried, then treated with alkalization. The samples were randomly divided into 5 groups: blank control group (C), test groups: grafted CHXG concentration of 0 (T0 ), 0. 4 (T1 ), 0. 8 (T2 ), 1. 6 mg/ml (T3 ) . The surface structural changes were observed by cold field emission scanning electron microscope (CFESEM), and the component elements of coating were analyzed semi⁃quantitatively. The antibacterial properties of the coating were evaluated by antibacterial zone, live/dead bacteria staining and crystal violet experiments. Results: A dense film was formed on the surface of titanium under the CFESEM compared with C group. The content of Cl element increased with the increase of CHXG concentration. There was no inhibition zone around the samples in C and T0 groups, but it was found in T1 , T2 and T3 groups. Live/dead bacteria staining showed no viable bacteria in the T2 and T3 groups. The results of crystal violet staining showed that T1 , T2 and T3 groups were statistically different from C and T0 groups, but the difference between the groups T2 and T3 was not statistically significant. Conclusion The antibacterial coating of PDMS⁃CHXG is constructed successfully. The PDMS⁃CHXG coating displays an exceptional antibacterial property when the concentration of CHXG reaches 0. 8 mg/ml.

Objective : To explore the biocompatibility of Polydimethylsiloxane/Chlorhexidine gluconate ( PDMS/ CHG) composite coating on titanium surface . Methods : CHG with different concentrations were covalently grafted to the surface of titanium through PDMS and divided into 5 groups: Group Ti: blank control group; Group P:PDMS coating group; Group C1:treated with PDMS and 0.2 mg/ml CHG;Group C2:treated with PDMS and 0.4 mg/ml CHG;Group C3:treated with PDMS and 0.8 mg/ml CHG;the surface morphology of titanium was observed with scanning electron microscope(SEM),and rat gingival fibroblasts(RGFs) were inoculated to the sample surface co-cultivation.Confocal laser scanning microscope(CLSM)was used to observe the cells, on the surface of titanium, morphology and the state of the cell after FITC-labeled phalloidin and AO/EB staining, besides, CCK-8 was used to detect cells proliferation. Results: It could be seen by SEM that films had been formed on the surface of titanium sheets in each experimental group.Combined with elemental analysis, the films on the surfaces of C2 and C3 groups were uniform and dense; CLSM showed that the cell morphology of each experimental group was consistent with that of the titanium group, with better extension, and the results of AO/EB staining showed that there was a lot of green fluorescence in each group, and the cells were in good shape.CCK-8 results showed that there was no difference between each group(P>0.05). Conclusion Titanium surface combined with concentration of no more than 0.8 mg/ml PDMS/CHG coating has good biocompatibility.