Objective To study heath-related quality of life in patients undergoing successful percutaneous coronary intervention(PCI)six months after operation.Methods 172 hospitalized patients who met the inclusion criteria were selected from July 2009 to May 2010.They were divided into the neversmoking group,ever-smoking group and the current-smoking group.The Seattle Angina Questionnaire (SAQ) and the Short Form-36 (SF-36)were used to assess the quality of life at baseline and 6 months after intervention.The comparison between groups and self-control comparison within groups were carried out according to each dimension of the questionnaire.Results SF-36 and SAQ score showed no significant difference 24h before the operation and 6 months after the operation between three groups.Patients who had never smoked and who were current smokers acquired higher scores in many dimensions of the questionnaire compared with those before operation,while patients who were former smokers reported reverse resuits.Conclusions There is no sufficient evidence proving that smoking status influences quality of life of patients after PCI,that is to say,it can not be considered that quality of life of smoking patients is lower than that of ever-smoking patients or never-smoking patients,since in this research,quality of life of eversmoking patients decreased after PCI.

Objective To discuss the effect of staining with the mixture of methylene blue and meglucamine diatrizoate on removal and diagnosis of minute mammary lesion(diameter≤ 1. 0cm). Methods 212 cases of mammary lesion were removed and diagnosed by the method of B-ultrosound and staining with the mixture of methylene blue and meglucamine diatrizoate. Results All of cases were removed and diagnosed successfully, including 7cases of early invasive ductus cancer and 1 case of ductal carcinoma in situ. Conclusion The method of staining with the mixture of methylene blue and meglucamine diatrizoate could significantly improve the accuracy of removal of minute mammary lesion and the percentage of diagnois of early breast cancer, and have high safety.

Objective: To observe the effect oftuina plus music therapy on range of motion of ankle joints and muscle spasm of lower limbs in children with spastic cerebral palsy. Method:All of 286 cases that conformed to the diagnostic criteria of infantile cerebral palsy were treated with 7 types of tuina manipulations respectively to unblock the Governor Vessel, reinforce the kidney and strengthen the spleen, pinch along the spine, stimulate specific foot-reflex area and different spinal segments, accelerate recovery of muscle strength and increase joint range of motion, 25-30 rain each treatment, once or twice a day, 30 d constitute a course of treatment.After this, the efficacy on femoral medial adduction and dorsiflexion angle and composite spasticity score (CSS) was evaluated. Result: The statistical analysis showed significant differences in dorsiflexion and femoral medial adduction angle and CCS scores (P<0.01) after the treatments. Conclusion: Tuina plus music therapy can lubricate the joints, relax contraction of tendons, alleviate muscle spasm and improve scissors and toe-walking gaits, thereby benefiting the gross motor function of infants in sitting, kneeling, standing and walking.

Objective To summarize the clinical characteristics , diagnosis and surgical method of intra-ductal papilloma(IP)of breast without nipple discharge .Methods The clinical data of 84 IP patients(130 le-sions)without nipple discharge admitted from Feb .2011 to Oct.2013 were analyzed retrospectively .Results The age of the 84 patients were mainly ranging from 30 to 50 years old.113(86.92%)lesions were≤10 mm in size, 84(64.42%)lesions had a distance≤20 mm to nipple, 57 accompanied by adenosis , 43 accompanied by fibro-cystic adenosis , 48 accompanied by fibroadenoma , 14 with ductal hyperplasia , and 2 with atypical ductal hyper-plasia.After a follow-up of 3 to 36 months, 5 cases had recurrence , including 4 cases of IP and 1 case of ductal carcinoma in situ.Conclusions IP without nipple discharge has no typical clinical symptoms .Ultrasound exam-ination may have positive findings , but not typical .Preoperative diagnosis is difficult and surgical biopsy is rec-ommended.Multiple and atypical ductal hyperplasia has possibility of recurrence , so follow-up is necessary.

Objective:To investigate the signaling pathway of inhibiting macrophage phagocytosis of TIR domain-containing protein encoded by Escherichia coli (TcpC) N-terminal ubiquitin ligase active fragments of uropathogenic Escherichia coli. Methods:Bioinformatics software was used to analyze the amino acid sequences and the function of TcpC N-terminal ubiquitin ligase active fragments as well as the functional sites. PCR was performed to amplify tcpc-330, tcpc-450 and tcpc-510 genes and a prokaryotic expression system was constructed to express the target proteins. The recombinant proteins rTcpC-N110, rTcpC-N150 and rTcpC-N170 were purified by Ni-NTA affinity chromatography. LPS in the recombinant proteins was removed by Detoxi-gel chromatography. The expression of MyD88 at protein and mRNA levels in macrophages incubated with rTcpC-N110, rTcpC-N150, rTcpC-N170 or rTcpC-TIR was detected by Western blot and qRT-PCR. The activation of NF-κB signal pathway and the levels of proinflammatory factors in macrophages incubated with the above TcpC protein fragments were measured by Western blot and ELISA, respectively. Results:Cys12, Trp104 and Trp106 in the N-terminal fragment of TcpC were crucial amino acids in maintaining its ubiquitin ligase activity. The target recombinant proteins rTcpC-N110, rTcpC-N150 and rTcpC-N170 were successfully expressed and purified. After Detoxi-gel chromatography, rTcpC-N110, rTcpC-N150 and rTcpC-N170 extracts were undetectable for LPS. TcpC ubiquitin ligase fragments inhibited the expression of MyD88 at protein level, but not affect its expression at mRNA level in macrophages. LPS-induced phosphorylation of NF-κB signaling pathway-related proteins p50 and p65 was significantly inhibited in macrophages treated with TcpC ubiquitin ligase fragments. Moreover, LPS-induced production of pro-inflammatory factors was also significantly inhibited.Conclusions:The recombinant proteins rTcpC-N110, rTcpC-N150 and rTcpC-N170 could inhibit the expression of MyD88 at protein level and suppress the activation of NF-κB signaling pathway, suggesting that they were closely related to the inhibition of innate immune activity of macrophages.

BACKGROUNDH syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin, as well as other systemic manifestations. Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India. The syndrome is caused by mutations in solute carrier family 29, member 3 (SLC29A3), the gene encoding equilibrative nucleoside transporter 3. The aim of this study was to identify pathogenic SLC29A3 mutations in a Chinese patient clinically diagnosed with H syndrome.

METHODSPeripheral blood samples were collected from the patient and his parents. Genomic DNA was isolated by the standard method. All six SLC29A3 exons and their flanking intronic sequences were polymerase chain reaction (PCR)-amplified and the PCR products were subjected to direct sequencing.

RESULTSThe patient, an 18-year-old man born to a nonconsanguineous Chinese couple, had more extensive cutaneous lesions, involving both buttocks and knee. In his genomic DNA, we identified a novel homozygous insertion-deletion, c. 1269_1270delinsA, in SLC29A3. Both of his parents were carriers of the mutation.

CONCLUSIONSWe have identified a pathogenic mutation in a Chinese patient with H syndrome.

Abnormalities, Multiple ; diagnosis ; genetics ; Adolescent ; Asian Continental Ancestry Group ; Genetic Predisposition to Disease ; Humans ; Male ; Mutation ; Nucleoside Transport Proteins ; genetics ; Skin Abnormalities ; diagnosis ; genetics

We represented a 22-year-old male patient who developed rhabdomyolysis,acute kidney failure and acute hepatic failure and was finally diagnosed as multiple acyl-CoA dehydrogenase deficiency.The patient appeared temporary stable status after high dose vitamine-B2 supplement whereas deterioration was still fatal with pulmonary infection,acute respiratory failure and acute heart failure.

Objective: To explore the relationship between childhood abuse, adult attachment and borderline personality disorder (BPD) in college students, and to provide reference for promoting the physical and mental health of college students. Methods: We selected undergraduate students from four colleges in Hefei, a total of 4 034 college students were surveyed by the childhood trauma questionnaire short form(CTQ-SF), the state adult attachment measure (SAAM) and the Personality Diagnostic Questionnaire(PDQ). Results: BPD was found in 4.2% of subjects, 4.5% of males and 3.7% of females. The score of BPD in non-single-parent families was lower than that in single-parent families, in families with average family economic status was lower than that in families with poor and good family economic status, and in families with medium father education level was lower than that in fathers with low and high education level(Z=-2.30, 29.25, 9.63, P<0.05). Childhood abuse, avoidant attachment and anxious attachment positively predicted BPD(β=0.21, 0.10, 0.23, P<0.01), secure attachment negatively predicted BPD(β=-0.15, P<0.01). Adult attachment played a partial mediating role in the effects of childhood abuse on BPD, with the mediating effect accounting for 16.7% of the total effect. Conclusion Adult attachment plays a mediating role in the effects of childhood abuse on BPD.

OBJECTIVE: To explore the genetic basis for a child with mental retardation. METHODS: Whole exome sequencing was carried out for the child. Candidate variant was screened based on his clinical features and verified by Sanger sequencing. RESULTS: The child was found to harbor a c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant in the SYNGAP1 gene. Bioinformatic analysis suggested it to be pathogenic. The same variant was not detected in either parent. CONCLUSION The c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant of the SYNGAP1 gene probably underlay the mental retardation in this child. Above finding has expanded the spectrum of SYNGAP1 gene variants and provided a basis for the diagnosis and treatment for this child.
Child ; Humans ; Intellectual Disability/genetics* ; Frameshift Mutation ; High-Throughput Nucleotide Sequencing ; Computational Biology ; Heterozygote ; Mutation ; ras GTPase-Activating Proteins/genetics*

Serum pharmacochemistry of traditional Chinese medicine(TCM) is an effective method to rapidly screen the effective substances and reveal the compatibility law of compound by identification and analysis of constituents migrating to blood after oral administration. In the last two decades, it has been universally accepted and widely applied in the field. With the cross-fusion with other disciplines, such as serum pharmacology, pharmacokinetics, metabolomics, network pharmacology and systems biology, serum pharmacochemistry shows comprehensive superiority in explaining drug changes in vivo and in vitro, interactions between drugs, interactions between drug and body, which coincides with the complexity of TCM compatibility, multi-components, multi-targets and multi-mechanisms. Based on the references related with the serum pharmacochemistry from CNKI scholar and Pubmed in 2013-2016, the research results of serum pharmacochemistry were statistically analyzed, and the key technical problems during the study of serum pharmacochemistry, for example, preparation of test sample, selection of experimental animal, determination of drug delivery scheme, method and time of the adoption blood, preparation and pretreatment of blood sample, as well as analysis of constituents migrating to blood, and the solving ways were empirically introduced. In addition, the development and comprehensive application of serum pharmacochemistry in TCM were summarized in this paper, hoping to lay a foundation for the further application of this method in TCM research.