Objective To compare the 12-month efficacy and safety of N-butyl cyanoacrylate (NBCA) versus radiofrequency ablation (RFA) in treating great saphenous vein (GSV) insufficiency. Methods A total of 155 patients with GSV insufficiency from five centers were randomly allocated to the NBCA group or RFA group. Postoperative efficacy and safety outcomes were evaluated. Results Immediate postoperative closure rates of the GSV trunk were 100% in both groups. The closure rates of NBCA and RFA group were 98.6% and 98.5% at 3 months, 97.1% and 98.5% at 6 months, 98.1% and 95.9% at 12 months, with no statistically significant differences (P>0.05). After treatment, CEAP classification improved significantly from baseline in both groups. In terms of safety, 1 case of phlebitis, 1 case of ablation-related thrombus extension (ARTE) and 2 cases of calf muscle venous thrombosis(CMVT) occurred in the NBCA group, while 2 cases of limb numbness, 1 case of persistent thigh pain and 2 cases of CMVT in the RFA group. All reported serious adverse events in both groups were assessed as unrelated to the medical device or the trial procedure. Conclusions NBCA demonstrates non-inferior efficacy and safety compared to RFA for treating GSV insufficiency over 12 months.

OBJECTIVE: To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome. METHODS: Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis. RESULTS: The child was found to harbor a novel c.1906C>T hemizygous variant of the FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c.1906C>T variant of FGD1 gene was predicted to be likely pathogenic(PM1+PM2+PM5+PP2+PP3+PP4). CONCLUSION The novel c.1906C>T variant of the FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.
Child ; Dwarfism ; Face/abnormalities* ; Genetic Diseases, X-Linked ; Genitalia, Male/abnormalities* ; Guanine Nucleotide Exchange Factors/genetics* ; Hand Deformities, Congenital/genetics* ; Heart Defects, Congenital ; Humans ; Male ; Mutation

Medical images play an important role in clinical diagnosis and treatment. During the radiotherapy, CT can be available for the location and definition of the target volume. The medical images from multiple modalities are used to obtain the information on pathological body from many angles. However, obtaining multiple-modality medical images could be more resource-consuming, and difficult to guarantee the consistency of patients′ state. Medical image translation between multiple modalities can achieve the predication from one modality to another. The studies on medical images from multiple modalities such as CT, ultrasound, MRI and PET are reviewed in detail in this paper, , with discussions provided about characteristics of multiple modalities and challenges faced, as well as the research areas to be developed.

Objective To study the conditions of callus induction with the roots of Aquilaria sinensis as explants. Methods Two sources of roots of Aquiliaria sinensis were selected as the explants. The effects of sterilization methods and the combination of different concentrations of phytohormones on callus induction were evaluated. Results When Aquiliaria sinensis root seedling was sterilized in 0.01mg/mL HgCl2 solution for 3 minutes, the sterilized effect was the best. The optimal callus induction medium was MS+0.1 mg/L 2,4-dichlorophenoxyacetic acid (2,4-D) +0.1 mg/L 6-benzylaminopurine (6-BA). Aseptic Aquiliaria sinensis root seedling cultivated in callus induction medium containing MS+1.0 mg/L naphthalene acetic acid ( NAA) +0.8 mg/L 6-BA achieved the highest callus induction rate. Conclusion Callus can be induced from two sources of Aquilaria sinensis roots. The induction rate of callus is lower when the explant root seedling is cultivated using 2,4-D alone as inducer, and is increased when used together with 6-BA.

Objective By detecting the mutations spectrum of phenylalanine hydroxylase(PAH)gene in phe-nylketonuria(PKU)patients and their parents. The researchers analyzed the gene mutation features and high - frequency mutations and determined the relationship between the genotype and the phenotype,which would provide a theoretical basis for the early diagnosis and genetic consultation of PKU children in the region. Methods In this study,13 exons and their flanking introns of the PAH gene in 32 PKU patients and their parents from Wuxi and Suqian in Jiangsu province were sequenced by using the next - generation sequencing(NGS)technology. Results Sixty - one mutant sites and 32 mutant genes were detected in 32 PKU patients,and the mutation detection rate was 95. 31%(61 / 64 cases). The variants at c. 721C ﹥ T,c. 1068C ﹥ A,c. 611A ﹥ G,c. 1197A ﹥ T,c. 728G ﹥ A,c. 331C ﹥ T and c. 442 -1G ﹥ A were common mutations in the region with mutation frequency over 5% . What's more,4 novel variants of c. 699C ﹥ G,c. 265C ﹥ T,c. 722G ﹥ A and c. 1194A ﹥ G were found. Of those,c. 699C ﹥ G was not recorded in the PAH variant database and HGMD database and. c. 265C ﹥ T,c. 722G ﹥ A,and c. 1194A ﹥ G were first reported in the Chi-nese population. Genotype - accurate biochemical phenotype correlation by using the Guldberg AV system revealed con-sistency rate of 38. 0%(8 / 21 cases),which the consistency rate between accurate biochemical phenotype and predic-tive phenotype of moderate to severe genotype was 92. 3%(12 / 13 cases),and mild genotype was 50. 0%(4 / 8 cases). Conclusions The PAH gene variants of PKU patients in Jiangsu province are distributed mainly in exons 7,of which the highest frequency gene mutation is c. 721 c ﹥ T. Moreover,one novel variant c. 699C ﹥ G was reported for the first time. The PKU children inherit the PAH mutation gene mainly from both parents. There are definite correlation between the genotypes and phenotypes.

Objective To examine the relationship between the concentration of 25-hydroxy vitamin D3 [25-(OH) D3] in the serum and the body mass,the severity of obesity,body mass index(BMI),blood lipid,and their predicting role in obesity children.Methods The study recruited 244 subjects,who see the doctor in Wuxi Maternal and Child Health Hospital,Childhood Nutrition Outpatient from Jul.2011 to Feb.2013.The intake dose of vitamin D each day was investigated,and weight,height,BMI,concentration of 25-(OH) D3 in serum,and microelement were also measured.In addition,lipid metabolism of 38 cases with obesity over 3 years old was determined.Results 1.The serum 25-(OH) D3 concentration of obese children was (68.31 ± 23.06) nmol/L.The concentration of 25-(OH) D3 was lowest in the group of obese children over 36 months of age[(55.03 ± 15.18) nmol/L].2.The concentration of 25-(OH) D3 in the group of obese and overweight children was far lower than that of the children in the normal group (F =4.739,P ＜0.05).3.The concentrations of 25-(OH) D3 in the severely obese children was significantly lower than that of the mild and moderate obesity children(F =9.711,P ＜ 0.05).4.There were significantly inverse associations of serum 25-(OH) D3 with weight,weight and height percentage,BMI (r =-0.365,-0.237,-0.175,all P ＜ 0.001).5.There were significantly inverse associations between the concentration of 25-(OH) D3 in serum with weight,triglyceride in obese children more than 3 years old (r =0.476,-0.324,all P ＜ 0.05).Conclusions The decreasing level of 25-hydroxy vitamin D3 in the serum was associated with obesity.The cause of it might be the increase of the obese adipose tissue,vitamin D getting trapped in fat cells,and all these factors can lead to a less serum vitamin D levels.The vitamin D consumption of obese children is higher than that of normal children,and should supply more vitamin D to reach normal 25-(OH) D3 level.

This article was aimed to study the species identification capability of psbA-trnH among Guanzhong herbs from Dryopteri. The nucleotide sequence information of psbA-trnH region was abstracted using standardized manners from 9 Dryopteri species (19 samples). The identification efficiency of psbA-trnH was analyzed based on TaxonGap among both tested materials (9 species, 19 samples) and tested materials plus GenBank data (17 species, 44 samples in total). The results showed that with the expanded species range, the discriminative efficiency of psbA-trnH de-clined from 100% (9/9) to 82.4% (14/17), while the proportion of within-specific heterogeneity larger than between-specific separability increased from 11.1% (1/9) to 52.9% (9/17). It was concluded that psbA-trnH can be recom-mended as the valuable barcode for homonym distinguishment among Guanzhong herbs, with attention of adequate sampling within species.