Adolescent ; Bone Wires ; Child ; Child, Preschool ; Female ; Fracture Fixation, Internal ; methods ; Humans ; Humeral Fractures ; diagnostic imaging ; surgery ; Male ; Radiography

Objective To study the age, the degree of hearing loss and the characteristics of inner ear imaging in children with GJB2 and SLC26A4 gene mutation-related deafness.Methods A total of 218 children with GJB2 and SLC26A4 gene mutations were enrolled in this study.Among them, with the combined test of deafness gene chip and DNA sequencing, 123 patients were diagnosed with GJB2 homozygous or complex mutations, and 95 patients were diagnosed with SLC26A4 homozygous or complex mutations.The age of the onset, the degrees of hearing loss and CT features of the temporal bone in children with GJB2 and SLC26A4 mutations were studied.Results The incidence of GJB2 and SLC26A4 gene mutations was 43.09%, 37.40%, 14.63%, 4.88% and 24.2%, 44.21%, 18.95% and 12.63% in the periods of infancy,early childhood,preschool and shoolage,respectively.The age composition of onset in the two groups showed statistical significance(P=0.014).The constituent ratio of children with moderate, severe and extremely severe degrees of hearing loss in the two groups with GJB2 and SLC26A4 gene mutations were 8.94%, 17.89%, 73.17% and 9.47%, 34.74% and 55.79%, respectively.Most of the group with GJB2 gene mutation had profound hearing loss, and the composition ratio of hearing loss degree in SLC26A4 group was statistically significant(P=0.014).99.19% of the children with GJB2 gene mutation group had normal structures of the inner ears.Only one case of CT showed bilateral internal auditory canal stenosis.For 95.79% of the children with SLC26A4 gene mutation, the CT results of the temporal bone were associated with the vestibular aqueduct expansion.Conclusion The onset age of GJB2 gene mutation children is concentrated in the infancy.Most of them are with very severe sensorineural deafness, not associated with the inner ear malformation.The onset age of SLC26A4 gene deafness children is concentrated in the early childhood.Most of them are with severe and extremely sever sensorineural deafness, closely related to vestibular aqueduct expansion and inner ear malformations.

Abstract: Objective　To construct a mouse model of Schistosoma japonicum liver disease induced by direct injection of Schistosoma japonicum eggs through the portal vein and evaluate its effectiveness, in order to provide a new animal model for schistosomiasis liver disease research. Methods　Fifteen 8-week-old C57BL/6 male mice were randomly divided into control group and egg injection group, with 5 in the control group and 10 in the egg injection group. On day -14, 5 000 live eggs were injected into the abdominal cavity of mice, and on day 0, the mice were anesthetized and the abdominal cavity was opened. 5 000 live eggs were injected through the portal vein, and the control group was injected with equal volume of phosphate buffer (PBS). 5 mice in the egg group were killed on day 10 and 30, respectively. The control group mice were killed on day 10, and their serum and liver tissue were collected. Hematoxylin eosin staining (HE) and Masson staining were performed, and alanine aminotransferase (ALT), aspartate aminotransferase (AST), and liver hydroxyproline (HYP) content were detected using a microplate spectrophotometer. Liver fibrosis-related genes, Th1 and Th2 type immune response-related genes were analyzed by real-time fluorescence quantitative PCR (qPCR). Liver injury, egg granuloma and fibrosis, and adaptive immune response were detected to evaluate the effect of portal vein injection of eggs while inducing mouse model of schistosomiasis liver disease. Results　The results showed that significant egg granulomas appeared in the liver of mice after injection of eggs into the portal vein for 10 and 30 days. There was no statistically significant difference in the area of egg granulomas between the 10-day group and the 30-day group (t=0.975, P=0.332). Masson staining and liver hydroxyproline content detection showed significant fibrosis in the liver. The qPCR results showed that, compared with the control group, the expression levels of fibrosis marker genes, such as α⁃Sma (alpha smooth muscle actin), Col1a1 (collagen type Ⅰ alpha 1), and Tgfb1 (transforming growth factor beta 1), were significantly increased (t=6.380, 7.533, 5.314; P=0.002, 0.001, 0.007), and then decreased on the 30th day, with no statistical difference compared to the control group (t=0.940, 1.529, 1.746; P=0.778, 0.543, 0.457). At the same time, the expression levels of Th1 type immune response-related genes, such as tumor necrosis factor alpha (Tnf), interferon gamma (Ifng), and Th2 type immune response-related genes, such as interleukin-5 (Il5), interleukin-13 (Il13), significantly increased 10 days after eggs injection (t=6.163, 4.589, 5.651, 5.367; P=0.003, 0.018, 0.020, 0.009). In addition, there was no significant change in the levels of AST and ALT in the serum of each group of mice (t=0.982, 3.450; P=0.771, 0.074. t=1.164, 0.564; P=0.697, 0.917). Conclusions　A mouse model of schistosomiasis liver disease induced by portal vein injection of worm eggs was constructed. The study provides a new modeling method for studying the mechanism of liver fibrosis in schistosomiasis..

Objective To estimate prenatal diagnoses strategy with abnormal results of non-invasive prenatal testing (NIPT) based on a case of mosaic for trisomy 22.Methods The pregnanct woman was recruited from Department of Prenatal Diagnosis Center of Xinhua Hospital.Ultrasound scans suggested fetal nuchal translucency was 3.5 mm.Peripheral venous blood was drawn from the pregnant woman for NIPT at 12+2 weeks gestation.For further prenatal diagnosis, amniocentesis was conducted at 16+2 weeks gestation, and karyotype analysis combination with chromosome microarray analysis (CMA) was executed to analysis amniocytes.Results NIPT results suggested that chromosome 21, 18 and 13 were normal and supplementary reports suggested that chromosome 22 were slightly above the normal range.Karyotype analyzed 35 cultured cells.Each of them revealed a normal female karyotype.However, CMA results suggested that chromosome 22 gain mosaic and its copy number was 2.26.The fetus was diagnosed as high possibility of mosaic for trisomy 22.Conclusions Combined with the NIPT results, which was slightly gain mosaic of chromosome 22, a prenatal diagnosis strategy were proposed.When NIPT results suggest chromosomal abnormities, karyotype analysis combination with CMA to diagnose were recommended.

OBJECTIVETo evaluate the indications and surgical procedure of bronchial and pulmonary artery sleeve resection for patients with centrally located non-small cell lung cancer, and how to prevent complications.

METHODSFrom July 1989 to Aug 2000, 32 cases of central NSCLC were treated with bronchial and pulmonary arterial sleeve resection and reconstruction. The results were retrospectively analyzed.

RESULTSThe complication rate was 25.0% (8/32), the mortality rate in 30-day postoperation was 6.3% (2/32), the overall 1-, 3- and 5-year survival rate was 82.8% (24/29), 50.0% (11/22) and 33.3% (4/12), respectively.

CONCLUSIONBronchial and pulmonary arterial sleeve resection and reconstruction in the treatment of patients with central NSCLC can not only maximize preservation of functional pulmonary parenchyma and improve patients, quality of life, but also provide an opportunity for those patients with poor pulmonary function to receive surgical resection of the tumor.

Adult ; Aged ; Bronchi ; surgery ; Carcinoma, Non-Small-Cell Lung ; surgery ; Female ; Humans ; Lung Neoplasms ; surgery ; Male ; Middle Aged ; Postoperative Complications ; prevention & control ; Pulmonary Artery ; surgery ; Reconstructive Surgical Procedures

BACKGROUNDIn-stent restenosis is a common complication after stent implantation. However, the assessment of stent lumen in computed tomography (CT) coronary angiography is limited by multiple factors. Our study aimed to evaluate the accuracy and the suspected affecting factors in diagnosing coronary in-stent restenosis by dual-source CT (DSCT) compared with coronary angiography.

METHODSOne hundred and fifteen stents in 50 patients were evaluated with DSCT before coronary angiography for the detection of coronary in-stent restenosis (≥ 50% luminal narrowing). Patency of each stent was analyzed by two independent expert radiologists blinded to the results of coronary angiography. The relationship between diagnostic accuracy and the suspected factors including age, body mass index (BMI), heart rate, variation of heart rate, radiation dose, image quality, location and stent characteristics (type, material, diameter, length and strut thickness) was assessed with both univariate and multivariate analysis. The fitting of a Logistic regression model was evaluated using a receiver operating characteristic (ROC) curve.

RESULTSMean stent diameter was (2.9 ± 0.4) mm. Sensitivity, specificity, positive and negative predictive values and accuracy of DSCT in detection of in-stent restenosis were 69.2%, 91.2%, 50.0%, 95.9%, and 88.7%, respectively. In a subgroup of stents with a diameter ≥ 3.0 mm, sensitivity, specificity, positive and negative predictive values and accuracy were 100.0%, 96.5%, 75.0%, 100.0%, and 96.8%, respectively. Stent diameter < 3.0 mm and poor image quality were associated with poor diagnostic accuracy (P < 0.05). The area under curve of ROC was 0.79.

CONCLUSIONDSCT can provide high accuracy for the assessment of in-stent restenosis in stents with a diameter = 3.0 mm, and can play an important role in ruling out in-stent restenosis.

Adult ; Aged ; Aged, 80 and over ; Body Mass Index ; Coronary Angiography ; methods ; Coronary Restenosis ; diagnosis ; diagnostic imaging ; Female ; Humans ; Male ; Middle Aged ; Tomography, X-Ray Computed ; methods

Objective To investigate the expression of serum connective tissue growth factor(CTGF) in congenital heart disease(CHD) with pulmonary artery hypertension (PAH) and its significance.Methods Fifty children with CHD in the Affiliated Hospital of Luzhou Medical College from May 2009 to Feb.2012 were selected in the study.Pulmonary artery systolic pressure (PASP) were measured by right heart catheterization.They were divided into 3 groups according to PASP levels as follows:normal PAH group(PASP ＜ 3.99 kPa,n =21),mild PAH group(3.99 kPa ≤ PASP ＜ 6.65 kPa,n =17),moderate or severe PAH group (PASP ≥ 6.65 kPa,n =12) ; serum CTGF and transforming growth factor-β1 (TGF-β1) were detected by using double-antibody sandwich enzyme linked immunosorbent assay.The relationship among the 3 groups and their PASP were analyzed.Results In comparison to normal PAH group,serum CTGF and TGF-β1 were significantly elevated in mild PAH group and moderate or severe PAH group (all P ＜0.01) ;compared with mild PAH group,serum CTGF and TGF-β1 were higher in moderate or severe PAH group(all P ＜ 0.01) ;CTGF levels were positive correlated with PASP both in mild PAH group and moderate or severe PAH group(r =0.828,0.849,all P ＜ 0.01);there were positive correlations between CTGF and TGF-β1 level in mild PAH group and moderate or severe PAH group (r =0.714,0.713,all P ＜ 0.01) ; there were positive correlations between TGF-β1 and PASP in mild PAH group and moderate or severe PAH group (r =0.623,0.639,all P ＜ 0.05).Conclusions Serum CTGF levels are elevated in children with CHD and PAH,which may be an important factor for the formation and development of CHD with PAH.

To construct a safer and more efficient gene engineering Lactococcus Lactis for expressing phenylalaine ammonia lyase (PAL) which will be benefit for PKU therapy, pal cDNA of Parsly and synthesized sequence based on Lactococcus Lactis bias codons were recombined into two Lactococcus Lactis NICE systems. The activities of the expressed PAL were detected, and the effect of Lactococcus Lactis bias codons on the expression of exterior protein was analyzed. The results showed that the expression level of PAL was increased by using Lactococcus Lactis bias codons in both Lactococcus Lactis NICE systems. Through which several safer andmore efficient strains of the gene engineering Lactococcus Lactis were obtained.
Cloning, Molecular ; Codon ; genetics ; Genetic Vectors ; genetics ; Lactococcus lactis ; genetics ; metabolism ; Phenylalanine Ammonia-Lyase ; biosynthesis ; genetics ; Recombinant Proteins ; biosynthesis ; metabolism ; Transformation, Bacterial

OBJECTIVETo explore the relationship of dose-volume histogram (DVH) parameters and computed tomography grading of radiation-induced lung injury in patients with non-small cell lung cancer (NSCLC) treated by three-dimensional conformal radiotherapy (3D-CRT).

METHODSOne hundred sixty-nine patients with stage I approximately III NSCLC, treated by 3D-CRT and followed by CT scan for more than six months after 3D-CRT, were divided into grade 0 to grade 4 based on the appearance of radiation-induced lung injury on CT image defined jointly by radiotherapist and radiologist. The patients were divided into CT positive group (grade 2 to grade 4) and CT negative group (grade 0 to grade 1), then the treatment planning shown to the patients were reviewed to compare and analyze the relationship of CT grading of radiation-induced lung injury and the DVH parameter selected.

RESULTSRegardless of whole lung or tumor-bearing lung, there was a statistically significant difference in normal tissue complication probability (NTCP) between the patients grouped with different CT grading of radiation-induced lung injury, and the mean of NTCP increased along with upgrade of CT grading. There was a statistically significant difference of mean lung dose (MLD) regardless of whole lung or tumor-bearing lung between the patients grouped with different CT grading of radiation-induced lung injury, and MLD increased along with upgrade of CT grading. There was a statistically significant difference of the volume received equal or more than 20 Gy (V(20)), 30 Gy (V(30)), 40 Gy (V(40)) of whole lung and tumor-bearing lung between the patients grouped with different CT grading of radiation-induced lung injury, and V(20), V(30), V(40) increased along with upgrade of CT grading. There were not statistically significant differences of the DVH parameters of the contralateral lung in the patients of different groups based on the CT grading. On statistical analysis, the DVH parameters of whole lung and tumor-bearing lung closely correlated with CT grading of radiation-induced injury of the tumor-bearing lung, and there was a relatively strongest relationship between NTCP and CT grading of the tumor-bearing lung (eta = 0.522).

CONCLUSIONDVH parameters such NTCP, MLD, V(20), V(30), and V(40) are statistically correlated closely with CT grading of radiation-induced lung injury after radiotherapy for the patients with NSCLC treated by 3D-CRT. Therefore the parameters can be selected as the reference for evaluation after 3D-CRT for patients with NSCLC.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Carcinoma, Non-Small-Cell Lung ; diagnostic imaging ; pathology ; radiotherapy ; Dose-Response Relationship, Radiation ; Female ; Follow-Up Studies ; Humans ; Lung ; radiation effects ; Lung Injury ; etiology ; Lung Neoplasms ; diagnostic imaging ; pathology ; radiotherapy ; Male ; Middle Aged ; Neoplasm Staging ; Radiation Injuries ; etiology ; Radiotherapy Dosage ; Radiotherapy Planning, Computer-Assisted ; Radiotherapy, Conformal ; adverse effects ; methods ; Retrospective Studies ; Tomography, X-Ray Computed ; Young Adult

BACKGROUNDWhile the abnormal appearance of the concealed penis has been well recognized, the effect of buried penis on the structure and function of corpus cavernosum has not been well studied. To explore this issue, we established a rat model and evaluated the effect of buried penis on cavernosum weight, contents and ultrastructure of tissue, and nitric oxide synthase (NOS) activity.

METHODSTwo hundred and ten rats were randomly divided into 3 equal cohorts for 2, 4 and 6 months study (groups A, B and C). Each group was randomly divided into buried group (n = 40), control group (n = 15), and normal group (n = 15), respectively. Intra-purse-string suture of the root of the penis was used to establish the model. Macroscopic development was judged by measuring the weight of the corpus cavernosum. Masson's trichrome staining was performed for observing microstructure while a transmission electron microscope was used for observing ultrastructure. The NOS activity was detected by a NOS activity assay kit.

RESULTSBuried penis had no significant influence on the appearance and weight of the corpus cavernosum. Buried penis resulted in decreased smooth muscle content (P > 0.05 in group A, and P < 0.05 in groups B and C) and increased fibrous connective tissue content (P > 0.05 in groups A and B, and P < 0.05 in group C) compared with the normal and control groups. Ultrastructural abnormalities of corpus cavernosum were observed in the 6-month buried group. Moreover, there was decrease of NOS activity in groups B and C (P < 0.05 in group B and P < 0.01 in group C) when compared with the normal and control groups.

CONCLUSIONBuried penis affects the structure and function of corpus cavernosum in rats and the effect is positively correlated with the buried time, but there is no significant effect on the macroscopic development.

Animals ; Male ; Nitric Oxide Synthase ; metabolism ; Penis ; anatomy & histology ; pathology ; physiopathology ; Rats ; Rats, Sprague-Dawley