Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype. Methods RT - PCR was performed on total RNA which was isolated from blood samples of patients, female carriers and controls. Patients and female carriers were selected from the pedigree with SEDL caused by the mutation (IVS2 - 2A→C) of the gene. cDNA was analyzed by polyacrylamide gelelectrophoresis(PAGE). Results PAGE data indicateed that female carriers expressed both normal and mutant SEDL mRNA,meaning the SEDL gene escaping XCI. Family investigation showed carrier females in the SEDL pedigree presented no symptoms. Conclusions The SEDL gene escaping X chromosome in-activation is firstly identified from human body. This may explain that carrier females present no symptoms.

Abdomen/surgery* ; Humans ; Laparoscopy/methods* ; Pelvic Floor/surgery* ; Perineum/surgery* ; Proctectomy ; Rectal Neoplasms/surgery*

A new production method of fracture fixation splint is introduced in the paper. The basic raw materials are multi-isocyanic acid, mixed with surfactants, catalysts, fillers, and so on. The splint, with light weight, high strength, and good injured anastomosis site, could be able to shape easily. It is dry and comfortable, avoiding a gas-tight uncomfortable feeling, easy to remove, remodel, nurse, clean and disinfect after fixed. Patients also could film review directly with fixed splint.
Equipment Design ; External Fixators ; Fracture Fixation

OBJECTIVETo explore the changes of serum sexual hormone levels in male hyperthyroidisms before and after treatment.

METHODSCompared with the control group, the serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T) and estradiol (E2) of 68 cases of male hyperthyroidisms before and after treatment were detected by chemiluminescence immunoassay technique, and then statistical analysis was performed.

RESULTSThe serum T and E2 levels of male hyperthyroidisms were significantly higher than those of the control group before treatment (P < 0.005); while no significant difference in FSH and LH levels existed between the patients and the control group (P > 0.05). There was no difference in FSH, LH, T and E2 levels between patients and the control group after treatment (P > 0.05).

CONCLUSIONThere are sexual hormone metabolism disorder in hyperthyroidism men, and the increasing serum T and E2 levels are only to adapt the high metabolism environment, and the changes of hypothalamus-pituitary-gonadal axes. Along with the control of hyperthyroidism, the sexual hormone levels return to normal.

Adult ; Estradiol ; blood ; Follicle Stimulating Hormone ; blood ; Humans ; Hyperthyroidism ; blood ; therapy ; Luminescent Measurements ; Luteinizing Hormone ; blood ; Male ; Middle Aged ; Testosterone ; blood

Objective: The current study was designed to evaluate the clinical application of radioimmunoimaging(RII) for lymph node metastasis in esophageal carcinoma. Methods:1)131I was used to label McAb G9(specific to cellular membrane antigen of human esophageal carcinoma) and form labeling compound 131I-G9. Administration of 131I-G9 in esophagus submucosally with a specific injector for the purpose of submucosal injection via endoscopies in preoperative patients with squamous cell carcinoma of thoracic esophagus followed by RII. 2)The samples of dissected lymph node were used for detection of radioactivity. Results: 1)The pictures at 48 h showed that small radioactivity concentrated dots appeared dispersedly in mediastinum and upper abdomen around esophagus and cardiac gastric. The lymph nodes were considered metastatic in above regions. 2)The pathological results of the lymph nodes dissected compared to the RII result. The metastatic lymph nodes were found in the regions of dispersedly concentrated radioactivity, while no metastatic lymph nodes could be found in the radioactivity free regions. 3)After counting for radioactivity, lymph node metastases showed higher antibody uptake than the non-metastases lymph nodes. The difference was statistically significant. Conclusion: 131I-G9 may be used to locate metastatic lymph nodes in patients with esophageal carcinoma.

OBJECTIVES: In Fujian Province, China, gastric cancer is one of the leading causes of mortality among all malignant tumors. Nanjing county and Minqing county are located in inland Fujian and have similar general demographics. However, the adjusted mortality rate of gastric cancer in Minqing was found to be much higher than that in Nanjing. We sought to explore factors associated with this increased risk of gastric cancer between the two counties. METHODS: We recruited 231 and 224 residents from Nanjing and Minqing, respectively, and analyzed differences between their dietary habits, Helicobacter pylori infection rates, and concentrations of serum pepsinogen I, pepsinogen II, gastrin-17, and ratio of pepsinogen I:II. RESULTS: Subjects in Minqing had more first-degree relatives who had been diagnosed with upper gastrointestinal tumor, more unhealthy dietary habits, a higher Helicobacter pylori positive rate, and greater proportion of abnormal serum gastrin-17 than those in Nanjing did. CONCLUSIONS: The factors that differed between these two counties might indicate that residents in Minqing have a higher risk for developing gastric cancer than those in Nanjing do.
Adult ; Aged ; China/epidemiology ; Female ; Food Habits ; Gastrins/blood ; Helicobacter Infections/epidemiology/microbiology/pathology ; Helicobacter pylori ; Humans ; Male ; Middle Aged ; Pepsinogen A/blood ; Pepsinogen C/blood ; Risk Factors ; Stomach Neoplasms/*diagnosis

OBJECTIVES: In Fujian Province, China, gastric cancer is one of the leading causes of mortality among all malignant tumors. Nanjing county and Minqing county are located in inland Fujian and have similar general demographics. However, the adjusted mortality rate of gastric cancer in Minqing was found to be much higher than that in Nanjing. We sought to explore factors associated with this increased risk of gastric cancer between the two counties. METHODS: We recruited 231 and 224 residents from Nanjing and Minqing, respectively, and analyzed differences between their dietary habits, Helicobacter pylori infection rates, and concentrations of serum pepsinogen I, pepsinogen II, gastrin-17, and ratio of pepsinogen I:II. RESULTS: Subjects in Minqing had more first-degree relatives who had been diagnosed with upper gastrointestinal tumor, more unhealthy dietary habits, a higher Helicobacter pylori positive rate, and greater proportion of abnormal serum gastrin-17 than those in Nanjing did. CONCLUSIONS: The factors that differed between these two counties might indicate that residents in Minqing have a higher risk for developing gastric cancer than those in Nanjing do.
Adult ; Aged ; China/epidemiology ; Female ; Food Habits ; Gastrins/blood ; Helicobacter Infections/epidemiology/microbiology/pathology ; Helicobacter pylori ; Humans ; Male ; Middle Aged ; Pepsinogen A/blood ; Pepsinogen C/blood ; Risk Factors ; Stomach Neoplasms/*diagnosis

This study was aimed to investigate the expression difference of serum cytokines in 20 patients receiving HLA-identical nonmyeloablative allogeneic hematopoietic stem cell transplantation (iNAHSCT) and HLA-haploidentical nonmyeloablative allogeneic hematopoietic stem cell transplantation (hiNAHSCT). IL-2, IL-4, IL-6, IL-10, TNF-α, γ-IFN and IL-17 were detected by flow cytometric bead array before and on week 1, 2, 4 after transplantation respectively. The results showed that the IL-2 level was found to be up-regulated at week 1 and 2 after transplantation in iNAHSCT group and in hiNAHSCT group respectively, but there was no difference between these two groups (P > 0.05). The γ-IFN levels was up-regulated at week 4 after transplantation in above-mentioned two groups, but no difference was found between these two groups. The IL-4 level increased at week 2 and 1 after transplantation in iNAHSCT and hiNAHCT groups respectively, but the IL-4 level in iNAHSCT group was higher than that in hiNAHSCT group. The IL-6 level rose at week 1 and 2 after transplant in above mentioned groups respectively, and reached to peak level at week 4 after transplantation, but IL-6 level in hiNAHSCT was higher than that in iNAHSCT group (P < 0.02). The IL-10 level was up-regulated at week 1 and 2 in iNAHSCT and hiNAHSCT groups respectively, but the IL-10 level in iNAHSC was higher than that in hiNAHSCT group. The TNF-α level was up-regulated at week 1 in hiNAHSCT group, but at week 2 in iNAHSCT group after transplantation. The TNF-α level in hiNHASCT group was higher than that in iNAHSCT group (P < 0.01). The IL-17 level was up-regulated at week 1 and week 4 after transplantation in hiNAHSCT and iNAHSCT groups respectively, the IL-17 level in hiNAHSCT group was high as compared with that in iNAHSCT group. It is concluded that the serum cytokine levels are obviously up-regulated in iNAHSCT and hiNHASCT groups, and reach to peak level at week 4 after transplantation. The IL-6, TNF-α and IL-17 level up-regulated significantly in hiNAHSCT group, but the IL-4 and IL-10 level up-regulated significantly in iNAHSCT.
Adolescent ; Adult ; Child ; Cytokines ; blood ; Female ; HLA Antigens ; immunology ; Haplotypes ; Hematopoietic Stem Cell Transplantation ; methods ; Humans ; Interleukin-10 ; blood ; Interleukin-17 ; blood ; Interleukin-4 ; blood ; Interleukin-6 ; blood ; Male ; Middle Aged ; Transplantation, Homologous ; Tumor Necrosis Factor-alpha ; blood ; Young Adult

OBJECTIVETo examine the association of activation of calcium-sensing receptors (CaSR) with apoptosis in cardiomyocytes under simulated ischemia/reperfusion.

METHODSVentricular cardiomyocytes of neonatal rats were incubated in ischemia-mimetic solution for 2 h, then re-incubated in normal culture medium for 24 h to establish a model of simulated ischemia/reperfusion (I/R). Cell apoptosis was detected by terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL assay). The expression of CaSR mRNA was detected by reverse transcriptase polymerase chain reaction (RT-PCR). The expression of Caspase -3 and Bcl-2 was detected by Western blotting.

RESULTThe simulated I/R enhanced the expression of CaSR and cardiomyocyte apoptosis. GdCl(3), a specific activator of CaSR, further increased the expression of CaSR and cardiomyocyte apoptosis, along with upregulation of Caspase-3 and downregulation of Bcl-2.

CONCLUSIONCaSR is associated with I/R injury and apoptosis in neonatal rat ventricular cardiomyocytes via suppressing Bcl-2 and promoting Caspase -3 expression.

Animals ; Apoptosis ; physiology ; Caspase 3 ; metabolism ; Cells, Cultured ; Myocardial Reperfusion Injury ; metabolism ; pathology ; Myocytes, Cardiac ; metabolism ; pathology ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Rats ; Receptors, Calcium-Sensing ; metabolism ; Signal Transduction

Objective To explore clinical characteristics of human cytomegalovirus (HCMV) and polyomavirus (BKV and JCV) infection after allogeneic hematopoietic stem cell transplantation (allo-HSCT).Methods Clinical data of 53 patients with hematologic malignancies who underwent allo-HSCT from June 2016 to December 2017 were collected.HCMV, BKV and JCV loads in patients' peripheral blood and urine were monitored once a week from day 1 to day 100 after transplantation.Incidence, occurrence time, clinical manifestations, and risk factors of viral infection were analyzed.Results A total of 51 patients had viral infection, infection rate was 96.23％.HCMV, BKV, and JCV infection rates were 54.72％ (29/53), 77.36％ (41/53), and 28.30％ (15/53) respectively.Incidences of pulmonary infection, acute graft-versus-host disease (aGVHD), and hemorrhagic cystitis (HC) were 54.72％, 58.49％, and 20.75％respectively.Analysis on risk factors showed that aGVHD (OR, 24.61[95％ CI, 2.30-46.24]), pretreatment with total body irradiation (TBI) (OR, 33.39[95％ CI, 1.57-79.13]), and use of antithymocyte globulin (ATG) (OR, 24.77[95％ CI, 1.16-52.58]) were independent risk factors affecting HCMV.Human leukocyte antigen (HLA) coincidence (OR, 0.003[95％ CI, 0.00-0.10]) could reduce the risk of HCMV viruria;pretreatment with TBI (OR, 15.10[95％ CI, 1.14-39.27]) was an independent risk factor for BKV viruria, compatible blood group of donor and recipient (OR, 0.07[95％ CI, 0.01-0.64]) could reduce the risk of BKV viruria.Conclusion HCMV and polyomavirus infection in blood and urine of recipient should be monitored as soon as possible after transplantation, so as to prevent and reduce complications in time.