Objective Under the method of a Meta-analysis, evaluate the early and long-term curative effect after coronary artery bypass grafting with the comparison of benefit and safety between dual anti-platelet therapy and aspirin therapy alone.Methods Medline, Embase, ScienceDirect and Cochrane Library were searched to identify randomized controlled trials concerning the comparison of benefit and safety between dual anti-platelet therapy and aspirin therapy alone, with extraction effect sizes including mortality, bleeding events, myocardial ischemia and graft occlusion.Newcastle-Ottawa Scale and Jadal scales were used to evaluate the quality of observational case-control studies and randomized controlled studies.Statistical analysis was performed using Meta R.15.2 software package.Results 15 literatures were enrolled for Meta-analyses, including 8randomized controlled studies, 3 prospective observational studies and 4 retrospective observational studies.Among a total of 31 365patiens, 8 642 patients were received combination therapy of aspirin and clopidogrel after CABG, and 22 723 patients were received combination therapy of aspirin and placebo or aspirin therapy alone.The Meta-analysis results, with comparison of the early postoperative curative effect in 13 literatures, showed that, relative to aspirin therapy alone, dual anti-platelet therapy could reduce the risk of graft occlusion(OR =0.53,95％ CI: 0.37-0.76, P =0.001), reduce the risk of myocardial ischemia (OR =0.84, 95 ％ CI: 0.71-0.99, P =0.038) , reduce the risk of mortality after CABG (OR =0.47,95 ％ CI: 0.36-0.61, P ＜0.001), simultaneously not increase the risk of bleeding events.The Meta-analysis results, with comparison of the long-term postoperative curative effect in 2 literatures, showed that the significant difference could not be found between two method of therapy about affecting the risk of graft occlusion (OR =0.40, 95 ％ CI: 0.02-6.90, P =0.523) , myocardial ischemia(OR =0.49, 95％ CI: 0.04-6.10, P =0.597), and mortality (OR =0.55, 95 ％ CI: 0.13-2.80, P =0.420).Conclusion Relative to aspirin therapy alone, dual anti-platelet therapy has better efficacy and safety in early postoperative term.However better long-term curative effect of dual anti-platelet therapy are not be confirmed, and more long-term follow-up studies are necessary to provide evidence based medicine.

Objective To review the efficacy and safety of combination of iodine-125 brachytherapy and concurrent chemoradiotherapy for middle and advanced stage non-small cell lung cancer (NSCLC).Methods Eighty-two cases of peripheral NSCLC patients were divided into the experimental group (n =32)and the control group (n =50) by different treatment methods.The patients in experimental group were treated by iodine-125 brachytherapy combined with concurrent chemoradiotherapy,and the patients in control group were treated by concurrent chemoradiotherapy.The two groups were treated with helical tomotherapy,and the chemotherapy regimen was PC regimen (paclitaxel + cisplatin) or TP regimen (taxotere + cisplatin).The response rate (RR),progression free survival (PFS),overall survival (OS) and adverse reactions were observed.Results The RR of experimental group and control group was 87.5％ and 76.0％,and the difference was not statistically significant (x2 =0.992,P =0.319).The median PFS was 16 months and 11 months,and the difference was statistically significant (x2 =5.216,P =0.022).The median OS was 26 months and 19 months,and the difference was not statistically significant (x2 =1.085,P =0.298).There were no statistically significant differences of the occurrence rates of adverse reactions in the experimental group and the control group such as radioactive pneumonia (18.75％ vs.24.00％,x2 =0.314,P =0.575),radiation esophagitis (25.00％ vs.30.00％,x2 =0.242,P =0.623),digestive tract reaction (21.88％ vs.26.00％,x2=0.180,P =0.671),bone marrow suppression (12.50％ vs.16.00％,x2 =0.014,P =0.907) and hemopneumothorax (6.25％ vs.0,P =0.149).Conclusion The combination of iodine-125 brachytherapy with concurrent chemoradiotherapy is a safe and effective treatment for middle and advanced stage NSCLC,which is worthy of further research and promotion.

OBJECTIVE: To report on a patient with congenital muscular dystrophy (CMD) due to a missense variant of LMNA gene and explore its pathogenicity. METHODS: The 1-year-and-1-month-old boy has presented with motor development delay and elevation of muscle enzymes for more than half a year. Congenital myopathy was suspected. Following muscle biopsy, HE staining, immunostaining and electron microscopy were conducted to clarify the clinical diagnosis. Meanwhile, DNA was extracted from the child and his parents' peripheral venous blood samples. Trio-whole exome sequencing (trio-WES) was carried out to detect pathogenic variant in the child. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Both light and electron microscopy showed a large area of necrotic muscle tissues with infiltration of inflammatory cells. Immunohistochemistry revealed a large amount of muscle cells to be diffusely positive for Dysferlin. The patient's motor delays, elevations of muscle enzymes and histopathological results suggested a clinical diagnosis of CMD. A de novo missense c.1072G>A (p.E358K) variant was detected in the LMNA gene by trio-WES. The variant was unreported previously (PS2) and was absent from major allele frequency databases (PM2). It was a loss of function variant and was considered as hotspot variant in the LMNA gene (PM1) as the amino acid (E), located in position 358, was highly conserved, and change of this amino acid was found to cause destruction of the filament domain (AA: 30-386), which may result in serious damage to the intermediate filament protein. Furthermore, c.1072G>A (p. E358K) in LMNA gene was also predicted to be pathogenic based on MutationTaster, PROVEAN and PolyPhen-2 (PP3) analysis. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), the variant was classified to be likely pathogenic (PS2+PM1+PM2+PP3). CONCLUSION The child's condition may be attributed to the de novo missense c.1072 G>A (p.E358K) variant of the LMNA gene. Above discovery has expanded the variant spectrum of the LMNA gene.
Gene Frequency ; Genomics ; Humans ; Infant ; Lamin Type A/genetics* ; Male ; Muscular Dystrophies/genetics* ; Mutation ; Whole Exome Sequencing

OBJECTIVE: To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis. RESULTS: The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3). CONCLUSION The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.
Blepharophimosis ; Child ; Congenital Hypothyroidism ; Facies ; Female ; Heart Defects, Congenital ; Histone Acetyltransferases/genetics* ; Humans ; Intellectual Disability ; Joint Instability ; Mutation ; Phenotype

OBJECTIVETo explore the preoperative diagnostic value of ¹⁸F-fluorodexyglucose positron emission tomography combined with contrast enhanced computed tomography (¹⁸F-FDG PET-ceCT) in patients with colorectal cancer liver metastasis.

METHODSClinical and imaging data of 58 patients with suspicious colorectal cancer liver metastasis between April 2010 and March 2013 were retrospectively evaluated. All the patients underwent ¹⁸F-FDG PET-ceCT. On the basis of definitive diagnosis, the sensitivity, specificity, accuracy and consistency of routine PET-CT, ceCT and ¹⁸F-FDG PET-ceCT were calculated.

RESULTSA total of 147 suspicious lesions of colorectal cancer liver metastasis were found in 58 patients. Finally, 125 lesions were confinmed as malignant, of which 58 (46.4%) lesions were less than 1.0 cm. The other 22 lesions were confinmed as benign, of which 17 (77.3%) lesions were less than 1.0 cm. The diagnostic accuracy of routine PET-CT, ceCT and ¹⁸F-FDG PET-ceCT in colorectal cancer liver metastasis for the lesions more than 1.0 cm was 100%, 93.1%, 100% respectively, and the consistency with final diagnosis was perfect, moderate, and perfect respectively (Kappa value 01.00, 0.408, 1.00). For the lesions less than 1.0 cm, the accuracy was 42.7%, 78.7%, 94.7% respectively, and the consistency with definitive diagnosis was insignificance, fair, and almost perfect respectively (Kappa value -0.005, 0.305, 0.848). The area under curve(AUC) was 0.525 (95% CI: 0.407-0.462) for routine PET-CT, 0.651(95% CI:0.532-0.757) for ceCT, and 0.924 (95% CI:0.839-0.972) for ¹⁸F-FDG PET-ceCT respectively. The AUC of ¹⁸F-FDG PET-ceCT was significantly larger than that of routine PET-CT (Z=5.559, P<0.05) or ceCT (Z=4.183, P<0.05).

CONCLUSION(18)F-FDG PET-ceCT can improve the diagnostic accuracy for smaller lesions of colorectal cancer liver metastasis.

Colorectal Neoplasms ; Contrast Media ; Fluorodeoxyglucose F18 ; Humans ; Liver Neoplasms ; Multimodal Imaging ; Positron-Emission Tomography ; Retrospective Studies ; Tomography, X-Ray Computed

Objective: This study aimed at determining the characteristics of the glucose homeostasis and its relationship with iron overload of the patients with β-thalassemia major (β-TM). Method: From Sun Yat-sen Memorial Hospital between January 2014 and December 2015, a total of 57 transfusion-dependent β-TM patients with 5-18 years old were enrolled in this study and fasting blood glucose(FBG) and insulin level, serum ferritin (SF), serum iron, transferrin, total iron binding capacity, unsaturated iron binding capacity were determined.Insulin resistance index (IRI), insulin sensitivity index and β-cell function index (BFI) were also estimated. Besides, in 36 patients cardiac T2* and liver T2* were estimated. Result: (1) Four patients(7%) with β-TM were diagnosed diabetes mellitus, and 14(24%) had impaired fasting glucose. (2) The incidence of abnormal glucose metabolism was significantly different according to levels of SF and degrees of the cardiac iron overload(χ²=9.737, P<0.05; χ²=17.027, P<0.05). It rose while the level of SF increased and the degree of cardiac iron overload aggravated. (3) The incidence of abnormal glucose level was not significantly different in cases with different degree of liver iron overload.The severe group of liver iron overload had significantly higher levels of INS, HOMA-βFI, HOMA-ISI, HOMA-βFI than the non-severe group (Z=-2.434, -2.515, F=8.658, all P<0.05), while no differences were found in the level of FBG, HOMA-βFI between two groups. (4) The result of logistic regression analysis indicated that the cardiac T2* was a significant predictor for the incidence of abnormal glucose metabolism in TM patients (P=0.035, OR=1.182%, 95%CI=1.048 to 1.332). Conclusion The high prevalence of abnormal glucose metabolism in β-TM patients was mainly closely related with the internal iron overload, especially in organs.The cardiac T2* was an independent risk factor for the incidence of abnormal glucose metabolism in TM patients.

OBJECTIVETo investigate the value of water enema (18)F-fluorodexyglucose positron emission tomography and computed tomography((18)F-FDG PET-CT) in incidental finding of hypermetabolism focus in the colon and rectum for differential diagnosis of benign or malignant lesions.

METHODSFrom June 2010 to December 2012 in our hospital, 77 patients were found incidentally with uncertain hypermetabolism focuses in the colon and rectum during PET-CT examination. Water enema (18)F-FDG PET-CT was performed to classify the lesions. According to the pathological examination and clinical follow-up, these cases were divided into malignant disease (including advanced colorectal adenoma), benign adenoma, inflammation and physiological uptake. Radioactive uptake level (SUVmax) and change of water enema imaging (retention index, RI) of hypermetabolism focus were compared between groups.

RESULTOf these 77 cases, 23 were malignant diseases, 16 benign adenoma, 7 inflammation and 31 physiological uptake. The difference of average SUVmax was not statistically significant between benign and malignant lesions as well as physiological uptake(P>0.05). But the difference of RI was statistically significant between neoplastic lesions and inflammation(P<0.05). The accuracy of water enema (18)F-FDG PET-CT in diagnosing non-neoplastic uptake was 100%, and the sensitivity, specificity and accuracy in differentiation of malignancy form benign lesions were 95.6%, 96.3%, and 96.1% respectively.

CONCLUSIONSThe incidental focal colorectal (18)F-FDG uptake in PET-CT may indicate potential colorectal malignant lesions and adenoma. Water enema can effectively differentiate the physiological uptake and predict benign lesions or malignancy in the colon and rectum colorectum with good accuracy.

Adenoma ; Colorectal Neoplasms ; diagnostic imaging ; Diagnosis, Differential ; Enema ; Fluorodeoxyglucose F18 ; Humans ; Incidental Findings ; Positron-Emission Tomography ; Radiopharmaceuticals ; Tomography, X-Ray Computed ; Water