Testicular germ cell tumor (TGCT) is a most common testicular malignancy with an increasing incidence, and its pathogenesis and mechanisms are not yet clear. The next generation sequencing has become the main tool to uncover the underlying mechanisms of TGCT. The differential gene expressions, gene mutation, predisposing gene-dominated signaling pathways, and changes of the relevant genes in the sex chromosome are largely involved in the occurrence and development of TGCT. Studies on the genomics of TGCT contribute a lot to identifying the pivotal pathogenic genes and paving a theoretical ground for the early screening and targeted therapy of TGCT. This paper summarizes the advances in the studies of the genomics of TGCT so as to reveal thetmechanisms of the disease at the genetic level.
Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Neoplasms, Germ Cell and Embryonal ; genetics ; Testicular Neoplasms ; genetics

Background Researches showed that the incidence rate of cataract is high in the nickel mining area. Nickel sulphate can apparently inhibit the metabolism and proliferation of human lens epithelium cells. But the study on the injury mechanism of nickel on lens is still seldom. Objective Present study was to investigate the effect of nickel sulphate on the lens of SD rats. Methods Forty-five SPF SD rats aged from 7 to 14 days were grouped randomly into subcutaneous injection group, intraperitoneal injection group and blank group. Nickel sulphate of 2 g/L ( 10 mg/kg) was subcutaneously or intraperitonealy injected for 45 days. The opacity of rat lens was examined under the slit lamp at two-week interval and scored based on the criteria of LOCS II and LOCS III. The rats were sacrificed in 45 days after experiment and the lens were obtained for the pathological examination. Result The mean score of the anterior subcapsule opacity of rat lens was obviously higher in subcutaneous injection group compared with blank control group with a significant difference between them (t= 14. 311, P < 0. 05 ) , but no significant difference in the anterior subcapsule opacity between intraperitoneal injection group and blank control group (t = 4. 355 , P>0. 05 ). The score of posterior subcapsule opacity of lens were evidently higher in both subcutaneous injection group and intraperitoneal injection group than the blank control group (t = 9. 316,P = 0. 004;t = 7. 464, P = 0. 009) ,so was the mean score of the anterior +posterior subcapsule opacities(t = 23. 387,P=0. 000;t= 10. 533,P = 0. 002) and the total score of rat lens opacity ( t = 12. 358 , P = 0. 001; t = 10. 188 , P = 0. 003 ) . No significant differences were found in cortex opacity score and nuclear opacity score among three groups ( P > 0.05 ). Histopathology examination revealed that the degeneration of lens collagen protein was more serious in subcutaneous injection group and intraperitoneal injection group than the blank control group,and the injury degree of lens collagen protein was more dominant in subcutaneous injection group. Conclusion System administration of nickel sulphate induced the injury of anterior and posterior subcapsule of lens in SD rat.

Spermatogonial transplantation (ST) is a novel technique which mechanism is similar to other transplantations. The donor testicular cells transferred into recipient testes by the microinjection can initiate spermatogenesis and produce sperm in the recipient testis. The homograft has got success. The xenograft in which (man, horse, bull or rat, can be the donor; immunodeficiency mouse can be the recipient) and cryopreserved germ cells can not clonize in the recipient testes. The reason may be immunoreaction. ST technique will be propitious to these fields, 1. to investigate fundamental aspects of spermatogenesis; 2. to regenerate spermatogenesis in infertile individuals; 3. to develop transgenic animals.
Animals ; Animals, Genetically Modified ; Humans ; Male ; Spermatogenesis ; physiology ; Spermatogonia ; transplantation ; Transplantation, Heterologous

BACKGROUND: Hepatic myelopathy results from liver disease, which lacks of effective cure method. Liver transplantation has attempted to cure this disease; however, the long-term therapeutic effect is rarely reported. OBJECTIVE: To explore the long-term therapeutic effect of liver transplantation in patients with hepatic myelopathy. METHODS: The clinical data of 2 patients with hepatic myelopathy, who underwent orthotopic liver transplantation, in August 2002 and November 2004, at the 309 Hospital of Chinese PLA, were analyzed retrospectively. The time of follow-up was 18 and 43 months, respectively. The muscle strength of double lower limbs in 2 patients was assessed prior to and after operation. RESULTS AND CONCLUSION: Two patients recovered well at 4 weeks after transplantation, the clinical symptom and physical signs of patients were improved obviously, the blood routine examination and other biochemical index were normal,and the function of transplanted kidney was normal. Two patients discharged at 6 weeks after transplantation. Patient 1 could stand for a long time at months 6 after transplantation, walked slowly with the supporter after 12 months and without the supporter at 43 months. The muscular strength of two lower limbs was grade 4. And the liver function was normal. Patients 2 could move his lower limbs in bed at months 6 after transplantation, walked with the supporter at 18 months. The muscular strength of two lower limbs was grade 3. The liver function was normal. It demonstrated that liver transplantation is beneficial to control hepatic myelopathy and recover muscular strength of two lower limbs. It is a newly developed, effective curing method for treating hepatic myelopathy. However, the numbers were small with short time observation, thus, the long-term therapeutic effect still need to be explored.

Objective: To investigate the inhibitory effect of adenovirus-mediated VEGF-siRNA on transplanted osteo- sarcoma in nude mice.Methods: VEGF-siRNA gene was cloned into the genome of replication-deficient adenovirus to construct Ad-VEGF-siRNA;the latter was then used to infect osteosarcoma MG63 cell line in vitro;and the expression of VEGF gene was detected by RT-PCR.Osteosarcoma transplantation model was established in nude mice;VEGF expression in tumor tissue was analyzed and the inhibitory effect on tumor growth and lung metastasis were also observed.Results: The recombinant adenovirus vector Ad-VEGF-siRNA was successfully constructed.In vivo and in vitro experiment both showed that Ad-VEGF-siRNA significantly downregulated VEGF expression in MG63 cells and transplanted tumor tissue. It was found that Ad-VEGF-siRNA significantly inhibited transplanted osteosarcoma growth(P

Introduction：Neonatal tetanus is a major cause of neonatal mortality in many developing countries and remains a major public health problem. This study aimed to determine risk factors associated with neonatal tetanus in Wenzhou, China.Methodology：Medical records of neonatal tetanus cases from 17 hospitals over a 13-year period (2000–2012) were reviewed for potential risk factors. Controls were selected from neonates with diseases other than tetanus who were admitted to the same facility during the same period. The potential risk factors of the neonatal tetanus group were compared with the control group using univariate analysis and an unconditional logistic regression model.Results：A total of 246 neonates with tetanus and 257 controls were included in this study. Univariate analysis showed that having untrained birth attendants, home delivery, an unsterile method of delivery and being a migrant to Wenzhou were significantly different between the two groups (P < 0.001). Logistic regression analysis revealed that the odds of having an untrained birth attendant, home delivery and an unsterile method of delivery were significantly higher in the tetanus group than the control group (odds ratio: 1371.0; 95% confidence interval: 206.0, 9123.5).Conclusion：This study identified that the main risks of neonatal tetanus in cases from Wenzhou were having an untrained birth attendant, home delivery and an unsterile method of delivery. Preventive measures directed to these risk factors may reduce the occurrence of neonatal tetanus in the studied area.

U-shaped sacral fractures are rare and often difficult to diagnose primarily due to the difficulty in obtaining adequate imaging and the severe associated injuries.These fractures are highly unstable and frequently cause neurological deficits.The majority of surgeons have limited experience in management of U-shaped sacral fractures.No standard treatment protocol for U-shaped sacral fractures has been available till now.This study aimed to examine the management of U-shaped sacral fractures and the early outcomes.Clinical data of 15 consecutive patients with U-shaped sacral fracture who were admitted to our trauma center between 2009 and 2014 were retrospectively analyzed.Demographics,fracture classification,mechanism of injury and operative treatment and deformity angle were assessed.All the patients were treated with lumbopelvic fixation or (and) sacral decompression.EQ-5d score was applied to evaluate the patients' quality of life.Of the 15 consecutive patients with U-shaped sacral fracture,the mean age was 28.8 years (range:15-55 years) at the time of injury.There were 6 females and 9 males.The mean followup time was 22.7 months (range:9-47 months) and mean full weight-bearing time was 9.9 weeks (range:8-14 weeks).Ten patients received lumbopelvic fixation and sacral decompression,one lombosacral fixation,and 4 merely sacral decompression due to delayed diagnosis or surgery.The post-operation deformity angle (mean 27.87°,and range:8°-90°) of the sacrum was smaller than that pre-operation (mean 35.67;range:15-90) with no significance difference noted.At the latest follow-up,all patients obtained neurological recovery with different extents.Visual analogue score (VAS) was reduced from preoperative 7.07 (range:5-9) to postoperetive 1.93 (range:1-3).All patients could walk without any aid after treatment.Eight patients were able to care for themselves and undertook some daily activities.Five patients had returned to work full time.In conclusion,lumbopelvic fixation is an effective method for stabilization of U-shaped sacral fractures with fewer complications developed.Effective reduction and firm fixation are the prerequisite of early mobilization and neurological recovery.Sacral decompression effectively promotes neurological recovery even in patients with old U-shaped sacral fractures.

Objective:To investigate the effects of estradiol on ~(60)Co?-ray induced apoptosis of bone marrow hematopoietic cells of mice,and to discuss the related anti-irradiation mechanism.Methods:KM mice were randomly divided into 3 groups(15 mice/each group):control group(without radiation),pure radiation group and estradiol+radiation group(ER group).The pure radiation group was irradiated by 4.0 Gy?-ray at a dose rate of 1.15Gy/min;the ER group was administered with 0.1 mg estradiol(IM)at 10 days before 4.0 Gy?-ray radiation;and the control group received no special treatment.The apoptotic DNA segments of bone marrow hematopoietic cells were analyzed by DNA agarose gel electrophoresis;flow cytometry was used to examine the apoptosis rate of cells and expression of Fas and Bcl-2 at 4 h,8 h,and 12 h after irradiation.Results:Eight hours after radiation,the apoptotic DNA segments were obviously increased and apoptotic DNA ladder appeared,which was not seen in the other 2 groups.The apoptosis rate of bone marrow hematopoietic cells in ER group was significantly lower than that in the pure radiation group at 4,8,and 12 h after irradiation(P

Adolescent ; Adult ; Biomarkers ; Female ; Hepatitis B, Chronic ; metabolism ; Humans ; Liver ; chemistry ; Liver Cirrhosis ; blood ; therapy ; Male ; Middle Aged ; Platelet-Derived Growth Factor ; analysis ; Proto-Oncogene Proteins c-sis

OBJECTIVETo characterize the clinical features of Chinese HNPCC families and to screen the mutations of a poly-(A)8 tract in M3 cholinergic receptor gene in these families.

METHODSThe clinical features of 15 Chinese HNPCC families were characterized. Genomic DNAs from 15 probands were prepared. PCR and direct DNA sequencing analysis were employed to examine the mutations of a poly-(A)8 tract in exon 8 of M3 cholinergic receptor gene.

RESULTSTotal 55 cancer patients were found in 15 families including 41 cases of colorectal carcinoma with an average of 2.73 colorectal carcinomas developed per family. Thirty out of forty-one (73%) patients were diagnosed before age of 50 years. Proximal colon was involved in 51% of patients, while anus and rectum were 40 %. Synchronous and metachronous multiple colorectal cancers developed in 5 patients (12%). Two thirds of families belonged to Lynch II syndrome, and total 18 extracolonic malignancies in 14 patients were identified. Gastric carcinoma was the most common extracolonic types. In 15 HNPCC probands, no mutation was detected in the poly-(A)8 tract of exon 8 of M3 cholinergic receptor gene.

CONCLUSIONM3 cholinergic receptor gene might have little relation with HNPCC in Chinese population. The criteria for Chinese HNPCC are useful and practical in clinical application.

Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis ; genetics ; pathology ; Family Characteristics ; ethnology ; Family Health ; Female ; Gene Expression Regulation, Neoplastic ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Phenotype ; Poly A ; Receptor, Muscarinic M3 ; genetics