Developmental retardation due to paternal 5q/11q translocation in a Chinese infant: clinical, chromosomal and microarray characterization

Although it is known that the parental carriers of chromosomal translocation are considered to be at high risk for spontaneous abortion and embryonic death, normal gestation and delivery remain possible. This study aims to investigate the genetic factors of a Chinese infant with multiple malformations and severe postnatal development retardation. In this study, the routine cytogenetic analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) analysis were performed. Conventional karyotype analyses revealed normal karyotypes of all family members. CMA of the DNA of the proband revealed a 8.3Mb duplication of 5q35.1-qter and a 6.9Mb deletion of 11q24.3-qter. FISH analyses verified a paternal tiny translocation between the long arm of chromosomes 5 and 11. Our investigation serves to provide important information on genetic counselling for the patient and future pregnancies in this family. Moreover, the combined use ofCMAand FISH is effective for clarifying pathogenically submicroscopic copy number variants.

The dissemination mode of drug-resistant genes in Enterobacter cloacae.

Background: Enterobacter cloacae (E. cloacae) infection has the highest mortality rate among Enterobacter infections. This study aimed to determine the prevalence and the transmission route of the class I integron, qnr genes, and CTX-M ESBLs genes in clinical isolates and to analyse the association between the prevalence of MDR genes and the antibiotic resistance of E. cloacae. Materials and Methods: The antibiotic susceptibility was tested the agar dilution method. The class I integron, qnr genes, and CTX-M ESBLs genes were detected by polymerase chain reaction (PCR). The prevalence data were analysed with the Chi-square test. Results: In the 100 clinical isolates, the class I integron-positive rate was 65%, with 12% on chromosome, 15% on plasmids and 38% on both. The positive rate of qnr genes was 37% with plasmid location. The positive rates for qnrA, qnrB and qnrS were 6%, 23% and 8%, respectively. The CTX-M ESBLs-positive rate was 34%. For CTX-M-1 ESBLs, 15% were on chromosome, 6% on plasmids and 4% on both; for CTX-M-9 ESBLs, 1% was on chromosome and 7% on plasmid; for CTX-M-25 ESBLs, 3% were on chromosome and 1% on plasmid. Conclusion: Antibiotic resistance genes may be horizontally and vertically disseminated among E. cloacae, which helps multidrug-resistant (MDR) strains of E. cloacae to be successful nosocomial agents.

Association of adult weight gain and nonalcoholic fatty liver in a cross-sectional study in Wan Song Community, China

Our objective was to examine associations of adult weight gain and nonalcoholic fatty liver disease (NAFLD). Cross-sectional interview data from 844 residents in Wan Song Community from October 2009 to April 2010 were analyzed in multivariate logistic regression models to examine odds ratios (OR) and 95% confidence intervals (CI) between NAFLD and weight change from age 20. Questionnaires, physical examinations, laboratory examinations, and ultrasonographic examination of the liver were carried out. Maximum rate of weight gain, body mass index, waist circumference, waist-to-hip ratio, systolic blood pressure, diastolic blood pressure, fasting blood glucose, cholesterol, triglycerides, uric acid, and alanine transaminase were higher in the NAFLD group than in the control group. HDL-C in the NAFLD group was lower than in the control group. As weight gain increased (measured as the difference between current weight and weight at age 20 years), the OR of NAFLD increased in multivariate models. NAFLD OR rose with increasing weight gain as follows: OR (95%CI) for NAFLD associated with weight gain of 20+ kg compared to stable weight (change <5 kg) was 4.23 (2.49-7.09). Significantly increased NAFLD OR were observed even for weight gains of 5-9.9 kg. For the “age 20 to highest lifetime weight” metric, the OR of NAFLD also increased as weight gain increased. For the “age 20 to highest lifetime weight” metric and the “age 20 to current weight” metric, insulin resistance index (HOMA-IR) increased as weight gain increased (P<0.001). In a stepwise multivariate regression analysis, significant association was observed between adult weight gain and NAFLD (OR=1.027, 95%CI=1.002-1.055, P=0.025). We conclude that adult weight gain is strongly associated with NAFLD.

Application of avastin in vitrectomy for proliferative diabetic retinopathy and its mechanism / 中华实验眼科杂志

Background Researches demonstrated that avastin-assisted vitrectomy for serious proliferative diabetic retinopathy can decrease intra-operation complication and bring down difficulty of surgery.It is speculated that this is associated with suppression of avastin on neovascularization.However,the evidence of its pathology is lack.Objective The aim of this study was to evaluate the application and mechanism of avastin in vitrectomy for severe proliferative diabetic retinopathy. Methods Twenty-four eyes from consecutive 24 patients with vitrectomy for severe proliferative diabetic retinopathy were enrolled in this study.Fourteen eyes received all intravitreal injection of 0.06 ml avastin(1.5 mg)14 days prior to vitrectomy。And the other 10 eyes underwent only vitrectomy without avastin injection as controls,Preretinal membranes were collected during vitrectomy for histopathologic examination by hemotoxylin and eosin staining.The differences in the density of the neovessels and micro-neovessels between the two groups were observed by detecting the expression of CD34 in vesse]endothelial cells using immunohistochemistry.Written informed consent was obtained from each patient before surgery. Results No statistically significant differences were found in the demography and eye manifestations between only vitreetomy group and avastin+vitrectomy group(P＞0.05).The neovessels with grade three was in 10 eyes in only vitrectomy group and 1 eye in avastin+vitrectomy group(P＜0.01).More capillary-like neovascularization with single vascular endothelial cells,obvious hemorrhage and inflammatory cells infiltration were observed on preretinal membranes in vitrectomy group.However,there were less hemorrhage,ceUular components and few capillary-like neovascularization but more hyaline degeneration of fibrous tissue were observed in avastin+vitrectomy group under the light microscope.Immunochemistry revealed that CD34 was positively expressed in vascular endothelial cells on preretinal membrane in both two groups.The neovessels density and miero-neovessels density were 15.40±7.42/field and 1.88±1.70/field in avastin+vitrectomy group and those in vitreetomy group were 18.00±3.80/field and 0.45±0.56/field respectively,showing significant differences between these two groups(neovessels density:Z=-4.102,P＜0.01;micro-neovessels density:Z=-4.137,P＜0.01).Conclusion As an adjunct drug during the vitrectomy for proliferative diabetic retinopathy, avastin can improve the successful rate of surgery by inhibiting the neovascular formation and alleviating retinal edema.

Isolated oesophageal cyst connected with the bronchus

We report an unusual case of a patient with an oesophageal cyst connected to the bronchus. A 24-year old male with a two-year history of repeated attacks of chest infection and haemoptysis was found to have a cyst of 4 x 4 cm affecting the anterior and apical segments of the right upper lobe. The cyst was excised in its entirety and the histopathological study of the cyst showed stratified squamous epithelium with submucosal and muscular layer but no cartilage. The pathological diagnosis was an oesophageal cyst. No previous case of isolated oesophageal cyst connected to the bronchus has been reported according to the available literature.

Biocompatibility of Rapamycin-Batroxobin Eluting Stent in Porcine Coronary Artery / 中国康复理论与实践

@#ObjectiveTo illustrate the biocompatibility of rapamycin-batroxobin eluting stent(RBES). MethodsStent made with rapamycin-batroxobin and polymer were implanted in the coronary artery of experimental group and the rapamycin with the polymer in the control group, which including 8 miniature pigs in each group. Coronary arteriographies were taken before, exactly after implanting the stent and before sacrificed the pigs. The whole blood cell counts, biochemical indexes, blood pressures, heart rates, body weights before implantation and sacrifice, together with the behavior states during the observation were analyzed. The coronary arteries of the implantation segment were observed under the scanning electron microscope and histologically. Lungs, stomachs, intestines, bowels, livers, kidneys and the ventricular walls which infused by the stents supported arteries were also observed histologically. ResultsBone marrow suppression, hemolysis, liver and kidney disfunction had not been found in the 2 groups. There was no significant difference in heart rate, blood pressure and body weight between 2 groups. Behavior was not influenced. All stents were implanted successfully. And there was no stenosis in coronary artery in both group during the 28-day period. There were no significant differences in endothelium square and the ratio of endothelium square to tunica media square. No definite inflammatory cell was found. There were no pathological damages related to RBES in lungs, stomachs, intestines, bowels, livers, kidneys and the ventricular walls infused by the stent supported arteries.ConclusionThe blood compatibility and histocompatibility were good after RBES were implanted in coronary arteries of miniature pigs.

Hybridization of Schistosoma mansoni and Schistosoma japonicum in mice.

Crossing experiments in mice with two human species of Schistosoma japonicum (Taiwan strain) and Schistosoma mansoni (Puerto Rican strain) were performed. The hybrid miracidia from the cross between female S. japonicum and male S. mansoni infected both Biophalaria glabrata and Oncomalania h. chiui. However, those from the reciprocal crossing could infect only B. glabrata. B. glabrata infected with hybrid miracidia of female S. mansoni x male S. japonicum survived up to 30 days while those infected with miracidia of S. mansoni remained alive for more than 100 days after the first shedding of cercariae. Relatively few hybrid eggs reached maturity either in tissues or in the feces of infected mice. A low percentage of F1 eggs hatched and the infectivity of F1 miracida was also low. Morphology and behavior of hybrid eggs, miracidia, cercariae, and adults were similar to the maternal species. The daily egg production of the hybrid worm pair was less than that of the normal one. The observations in the present study may be attributed to the maternal effects. However, the phenomenon of parthenogenesis in schistosomes cannot be confirmed.