Objective: To develop a molecular screening test for genetic defects on hearing loss related genes has significant impacts on early identification of hereditary hearing loss and genetic susceptibility to aminoglycoside ototoxicity. Early identification of pre-lingual hearing loss is very important for patient's language development, academic achievement, and social skill. Two common mutations, the 235delC in GJB2 gene and the mutation A1555G in mitochondrial DNA, are included in the newly developed screening panel for Chinese population. Methods: A molecular genetic assay, based on fluorescent labeled multiplex PCR and automatic DNA fragment analyzing techniques, was developed to detect both mutations simultaneously. Results: This assay was able to detect both mutations from patient's samples, and pooled DNA tests, as well as suitable to detect mutation from the DNA extracted from dried blood spot and buccal swab. Conclusion: This assay could be a useful tool for newborn screening and carrier screening for the hereditary hearing loss for the Chinese population.

Objective To explore the clinical outcomes and complications of the Ilizarov technique for the treatment of femoral infec-tious ununtied fracture and bone defect.Methods A total of 40 patients with femoral infectious ununtied fracture or bone defect were admit-ted into our department from July 2006 to September 2012.After radical debridement,patients were given osteotomy and Ilizarov external fix-ation,and distraction osteogenesis were used in the treatment of bone defects.And the clinical effects and complications of the treatment were evaluated.Results All of the patients were followed up for 12 ~32 months (24.5 months averagely).Totally 39 patients of them acquired bone healing,and the mean healing time was 15.5 months (12 ~26 months).The knee joint range of motion of 32 patients were obviously decreased after operation (P =0.031).There were 10 cases of partial hip joint range of motion decrease,22 cases of leg length discrepancy (more than 1.1 cm),1 case of Iatrogenic vascular injury,and 10 cases required autologous cancellous bone graft.Pin loosening,deep infec-tion,clubfoot deformity,and deep vein thrombosis or bleeding were founded in parts of the patients.Conclusion Ilizarov technique can ac-quire success in the treatment of femoral infectious ununtied fracture and bone defect,but it has many complications.

SUMMARY Constitutional full trisomy 21 is a common disorder in which abnormal spermatogenesis has been previously described. However, constitutional mosaic trisomy 21 in an otherwise normal but infertile male has not been explored. We report a case with low level mosaic trisomy 21 in a non-syndrome but azoospermic patient. We also propose that the patient's azoospermia may be related to the constitutional mosaic trisomy 21 and thus resulting in a late onset of testicular failure.

Objective To understand the willingness to receive human papillomawrus (HPV) vaccination of men who have sex with men (MSM) and the male clients of sexually transmitted disease (STD) clinics and related factors in China.Methods MSM were enrolled from the community through snowball sampling and male clients of STD clinics were enrolled from a sexual health clinic through convenience sampling in Wuxi,China.A questionnaire survey on the subjects' socio-demographic characteristics and the awareness of HPV was conducted.Results A total of 186 MSM and 182 STD clients were recruited.The awareness rates of HPV were 18.4％ and 23.1％,respectively and the awareness rates of HPV vaccination were 10.2％ and 15.4％,respectively.STD clinic clients (70.9％) were more likely to receive HPV vaccination than MSM (34.9％) (x2=47.651,P＜0.01).Only 26.2％ of MSM and 20.2％ of STD clinic clients were willing to receive free HPV vaccination before the age of 20 years.Multivariate logistic regression analysis showed that MSM who had passive anal sex (OR=2.831,95％ CI:1.703-13.526),MSM who never used condom in anal sex in the past 6 months (OR=3.435,95％CI:1.416-20.108),MSM who had been diagnosed with STDs (OR=1.968,95％CI:1.201-8.312) and STD clinic clients who had commercial sex with females in the past 3 months (OR=1.748,95％ CI:1.207-8.539),STD clinic clients who never used condom in commercial sex in the past 3 months (OR=1.926,95％CI:1.343-5.819) and STD clinic clients who had been diagnosed with STDs in past 12 months (OR=2.017,95％CI:1.671-7.264) were more likely to receive free HPV vaccination.Conclusion Sexually active MSM and male clients in STD clinics in China had lower awareness of the HPV related knowledge.Their willing to receive HPV vaccination were influenced by their behavior related factors.It is necessary to strengthen the health education about HPV and improve people's awareness of HPV vaccination.

Objective To explore the effect of salmon calcitonin on osteoporosis induced by spinal cord injury. Methods 100 patients with osteoporosis induced by spinal cord injury from September 2011 to September 2014 in our department were included. They were randomly divided into control group (n=50) and observation group (n=50). The control group received vitamin D3 only, while the observation group received vitamin D3 combined with salmon calcitonin on the basis of rehabilitation physiotherapy, for 6 months. Visual Analogue Scale (VAS) of pain was evaluated in different periods. The bone mineral density (BMD) of lumbar spine and femoral neck, the parathyroid hormone (PTH), bone gla protein (BGP) and 1,25- dihydroxy vitamin D3 (1,25-(OH)2D3) were tested and recorded. Results The VAS score was lower in the observation group than in the control group 1, 2, 3 and 6 months after treatment (P<0.001). The BMD of lumbar spine and femoral neck was significantly higher, the PTH and BGP were significantly lower and the 1,25-(OH)2D3 was significantly higher in the observation group than in the control group after treatment (P<0.001). Conclusion Combination of salmon calcitonin can effectively reduce the bone pain and improve the BMD in patients with osteoporosis induced by spinal cord injury.

BACKGROUND AND OBJECTIVEAtelectasis is a common complication after thoracotomy, and it may threaten patients' life if it was not treated correctly and properly. The aim of this article is to explore and discuss the prevention and treatment for atelectasis during the perioperative period, and also to explore new methods for reducing the perioperative mortality due to atelectasis after thoracotomy.

METHODSWe retrospectively reviewed the medical records of 374 lung cancer patients who underwent thoracotomy in our department between Jan 2007 and Nov 2009.

RESULTSAtelectasis occurred in 14 patients among all the 374 lung cancer patients who underwent thoracotomy. All the atelectasis returned to reexpansion after treatment.

CONCLUSIONThe incidence of atelectasis in these series is relatively low compared with the reports in literatures. Good perioperative preparation and perioperative treatment can remarkably decrease the incidence and mortality of atelectasis after thoracotomy in the treatment of lung cancer.

Female ; Humans ; Lung Neoplasms ; surgery ; Male ; Middle Aged ; Pulmonary Atelectasis ; prevention & control ; Retrospective Studies ; Thoracotomy ; adverse effects ; methods

Objective To understand the willingness on acceptance of a short-message-service (SMS) program provided for HIV/STD testing and the related factors,among male clients at the STD clinics in China.Methods Convenience sampling method was used to select study subjectsat a STD clinic in Wuxi,Jiangsu province.A questionnaire survey was conducted among the subjects to collect the information on socio-demographic characteristics and willingness of acceptance to the SMS.Results A total of 368 SMS subjects were surveyed,in which 75.5％ expressed the willingness of acceptance,while 57.2％ and 38.1％ of them wanted to receive the short message every 3 months or 6 months,respectively.53.8％ of the respondents showed their willingness to share the news with their sexual partners about SMS and 44.8％ of them would do the same to their friends.Data from the Multivariate logistic regression analysis showed that those who had received senior high school or above education (aOR =3.632,95％CI:1.939-6.715),having homosexual behavior (aOR =1.973,95％ CI:1.234-8.358) or those having received AIDS related intervention service in the past year (aOR=9.416,95％CI:4.822-18.309) were more likely to accept the SMS.Conclusion SMS seemed to be acceptable among the male STD clinic clients in Wuxi,suggesting that it is feasible to conduct the SMS as a strategy to improve the HIV/STDs testing program at the STD clinics in the future.Promotion of SMS should be strengthened and the provision of general AIDS intervention service at the STD clinics should be established in order to make more STD clinic clients understand this SMS.

Chromosome microarray analysis (CMA) has become the first-tier testing for chromosomal abnormalities and copy number variations (CNV). This review described the clinical validation of CMA, the development and updating of technical standards and guidelines and their diagnostic impacts. The main focuses were on the development and updating of expert consensus, practice resources, and a series of technical standards and guidelines through systematic review of case series with CMA application in the literature. Expert consensus and practice resource supported the use of CMA as the first-tier testing for detecting chromosomal abnormalities and CNV in developmental and intellectual disabilities, multiple congenital anomalies and autism. The standards and guidelines have been applied to pre- and postnatal testing for constitutional CNV and tumor testing for acquired CNV. CMA has significantly improved the diagnostic yields but still needs to overcome its technical limitations and face challenges of new technologies. Guiding and governing CMA through expert consensus, practice resource, standards and guidelines in the United States has provided effective and safe diagnostic services to patients and their families, reliable diagnosis on related genetic diseases for clinical database and basic research, and references for clinical translation of new technologies.
Child ; Chromosome Aberrations ; Chromosomes ; DNA Copy Number Variations ; Developmental Disabilities/genetics* ; Humans ; Intellectual Disability/genetics* ; Microarray Analysis ; United States

Objective To explore the effect of JianpiYiqi Decoction on the proliferation,invasion and apoptosis of Human hepatoma Huh-7 cells under the constructed inflammatory microenvironment stimulated by lipopolysaccharide(LPS)and adenosine triphosphate(ATP),and to detect the interleukin-1β(IL-1β)and interleukin-18(IL-18)Expression level in cells.Methods Construction drug-containing serum of JianpiYiqi.Adopt LPS and ATP were added to the cell culture medium to stimulate hepatoma cells and construct the inflammatory microenvironment.The cells were divided into blank group,model group,VX-765 group(10 μmol·L-1),low concentration of traditional Chinese medicine group(15%JianpiYiqi Decoction low dosedrug-containing serum),Medium concentration of traditional Chinese medicine group(15%JianpiYiqi Decoction Medium dose drug-containing serum),and high concentration of traditional Chinese medicine group(15%JianpiYiqi Decoction high dose drug-containing serum).Adopt CCK-8 method was used to detect the proliferation level of cells in each group after cell intervention;The apoptosis rate of cells in each group was detected by Annexin V-FITC/PI method;Adopt Transwell method was used to detect the level of cell invasion in each group;adopt PI single staining was used to detect the cell cycle level in each group;Adopt ELISA method and Western blot method were used to detection of IL-1β and 1l-18 expression level in Huh-7 cells.Results Compared with the blank group,in the model group stimulated by LPS and ATP,the proliferation level,invasion level,IL-1β and IL-18 expression level of Huh-7 cells were higher(P<0.05),and the apoptosis level was lower(P<0.05).Compared with other groups,the Medium concentration of traditional Chinese medicine group and the high concentration of traditional Chinese medicine group could effectively inhibit the proliferation and invasion level of Huh-7 cells,block the cell proliferation cycle,reduce the cell survival rate(P<0.05),significantly induce apoptosis of Huh-7 cells(P<0.05),and reduce the expression levels of IL-1β and IL-18 in Huh-7 cells(P<0.05).Conclusion The drug-containing serum JianpiYiqi.The medium and high concentrations of JianpiYiqi Decoction drug-containing serum can inhibit the proliferation and invasion,block the cell cycle and induce apoptosis of human liver cancer Huh-7 cells by improving the inflammatory microenvironment in liver cancer Huh-7 cells.Its mechanism may be related to the inhibition of liver cancer cells.Analyze the levels of inflammatory factors IL-1β and IL-18 to achieve the therapeutic purpose of primary liver cancer.

To develop standard in vitro chondrosarcoma models, we synthesized three hydrogels (i. e., PDMAAm, PNaAMPS and PMETAC) and investigated the influence of Young's modulus, swelling ratio and electric charges on the behavior of chondrosarcoma cells seeded on the hydrogels, including morphology, adhesion and aggregation. Results showed that the morphology of chondrosarcoma cells at 6h was dependent on the charges of hydrogels; cells present spindle-shaped and round-shaped morphology on negative charged and neutral hydrogel, respectively, while no cells spreaded on positive charged hydrogel. Chondrosarcoma cells formed aggregates on neutral PDMAAm after further culture. The hydrogels can be synthesized easily and has the characteristics of ease at use with defined components, which holds great potential for developing standard chondrosarcoma models in vitro.
Bone Neoplasms ; pathology ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Chondrosarcoma ; pathology ; Humans ; Hydrogels ; chemistry ; pharmacology ; Methacrylates ; pharmacology ; Nylons ; pharmacology ; Static Electricity