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.

Objective To explore the changes of the plasma motilin(MTL)and serum gastrin(GAS)levels and their relationship with course of disease,the severity,the complication of digestive system in neonates with intracranial haemorrhage(ICH).Methods The objects were 26 cases of term newborns with ICH,the healthy control group contained 30 cases of healthy term newborns.Plasma motilin and serum gastrin concentration were measured by radioimmmunoassay in 26 cases of newborns with ICH in the 2 d,3-5 d,7-10 d,and 12-15 d after birth,and compared with the healthy control group.Results Compared with healthy control group,the blood GAS and MTL levels of neonatal ICH group increased dramatically(Pa

Objective To find out the potential risk factor of plague in Wanzhou section of the Three Gorges Reservoir area, and to provide scientific basis for prevention and control of plague. Methods Rodents were captured by rat traps/cages at night and identified into species in Wanzhou section of the Three Gorges Reservoir area from 2001 to 2009. Flea was counted and serum antibodies against plague F1 of rats, cats and dogs were detected by indirect hemagglutination (IHA). Plague surveillances were performed in human beings and rats. Results The rodents captured belonged to 9 species, 2 families, 2 orders and 1 classes. The average indoor rodent density was 1.16% (961/82 558), and was 1.12% (1345/119 671) outdoors. Rattus norvegicus was the dominant species,accounting for 50.37%. The proportion of R. Flavipectus was 3.80% in 2004, 4.50% in 2008 and 10.12% in 2009,showing an increasing trend year by year. There were three kinds of mice infected fleas in Wanzhou, which including Xenopsylla cheopis, Leptopsylla segnis and Ctenocephalides felis. The average rate of flea infected mice was 1.18%(82/6959) and the total flea index was 0.036. No F1 antibody against plague was detected in 6959 dogs and 160 cats serum samples. Conclusions No plague is found in Wanzhou section of the Three Gorges Reservoir area. But R.Flavipectus, Xenopsylla cheopis and Leptopsylla segnis are dominant species in Wanzhou section, and the proportion of which shows an increasing trends year by year. There is a potential risk of plague outbreaks in Wanzhou section of the Three Gorges Reservoir area.

Background and Objective:The gross tumor volume (GTV) obviously reduces after induction chemotherapy (IC) for primary Iocoregionally advanced nasopharyngeal carcinoma (NPC). This study was to investigate the impact of changing gross tumor volume delineation on the dose distribution and clinical treatment outcome after IC. Methods: From January 2008 to April 2009, 24 patients with Stage Ⅲ-Ⅳb primary locoregionally advanced NPC were treated with TPF regimen IC followed by intensitymodulated radiotherapy (IMRT) with concurrent chemotherapy The primary GTVs were delineated into two parts: the post-IC primary GTV (GTVpost-IC-NP),and the region of pre-IC primary GTV minus GTVpost-IC-NP (GTVprepost-IC-NP). The dose distributions of two plans with GTVpost-IC-NP or pre-IC primary GTV were assessed by analyzing ten cases. The clinical treatment outcome and toxicity of all patients were observed. Results:The post-IC GTV was significantly smaller than the pre-IC GTV(primary GTV 25.5 cm~3 vs.51.1 cm~3,P=0.001;lymph nodes GTV 9.1 cm~3 vs. 31.4 cm~3, P=0.035;primary+lymph nodes GTV 33.2 cm~3 vs. 82.6 cm~3, P=0.004), the overall GTV with an average shrinkage of 61%. The high dose region was also smaller after IC(volumes covered by 64.4 Gy were 422.9 cm~3 vs.457.9cm~3, P=0.003; 274.2 cm~3 vs.334.5 cm~3 by 68 Gy, P=0.041). The complete response rate was 38% after IC,and 100% three month after radiotherapy.The toxicity of following IMRT with concurrent chemotherapy was similar to that of IMRT with concurrent chemotherapy alone. With median follow-up of 9 months, the locoregionally control rate was 100% and only one patient presented metastasis 15 months after treatment. Gonclusions: TPF regimen IC could significantly reduce tumor volume. The following IMRT with GTVpost-IC-NP plan reduced the high dose region,which didn't add toxicity while had excellent short-term treatment outcome.

OBJECTIVETo investigate the role of activated hepatocyte growth factor (HGF) in apoptosis of hepatic stellate cells (HSCs) and in modulating the Rho signaling pathway.

METHODSHSCs were divided into the following groups: blank control, consisting of HSCs without treatment; two treatment controls, consisting of HSCs exposed to exogenous HGF at 50 ng/ml and HSCs exposed to exogenous HGF activator (HGFA) at 70 ng/ml; three experimental groups, consisting of HSCs exposed to both exogenous HGF and HGFA, HSCs pre-incubated with the HGF inhibitor c-met at 500 ng/ml for 6 hours and then exposed to exogenous HGF and HGFA, and HSCs pre-incubated with the Rho pathway inhibitor Y-27632 at 10 ng/ml and then exposed to exogenous HGF and HGFA. Activation status of the cultured HSCs was determined by change in expression of alpha-smooth muscle actin (SMA). The optimal intervention concentration of Y-27632 was determined by MTT assay. The apoptotic status of HSCs was determined by flow cytometry. Expression of the HGF-alpha chain was detected by immunofluorescence. The expression of RhoA was evaluated by PCR (for mRNA) and by immunohistochemical staining and Western blot analysis (for protein).

RESULTSExposure to 10 mumol/L Y-27632 led to obvious growth inhibition of HGF + HGFA-induced HSCs, compared with the other concentrations tested (P less than 0.05). HGF + HGFA induced the expression of the HGF-alpha chain in a time-dependent manner (P less than 0.01); however, the increases in expression of HGF-alpha chain induced by HGF alone and HGFA alone were not significantly different from the level in the blank controls (P more than 0.05). Exposure to HGF alone and HGFA alone led to a time-dependent increase in apoptosis (24 h, 48 h, 72 h) but exposure to HGF + HGFA led to the highest levels of apoptosis (P less than 0.05). Exposure to HGF + HGFA led to a time-dependent decrease in RhoA mRNA and protein expression (P less than 0.01).

CONCLUSIONActivation of hepatocyte growth factor promotes apoptosis of hepatic stellate cells by suppressing RhoA expression and down-regulating the Rho signaling pathway.

OBJECTIVETo explore the effects of allergic factors in chronic sinusitis and nasal polyps.

METHODEosinophil in nasal secretions and allergen skin test of 1882 patients with chronic sinusitis and nasal polyps were examined before endoscopic sinus surgery. The occurrence ratios of allergic symptoms and syndromes were analyzed and compared with clinical stages of chronic sinusitis and nasal polyps.

RESULTS(1) Allergic symptoms (or syndromes) were presented in 60.4% (1137 cases) of patients in different degrees, 25.3% (477 cases) patients suffered from allergic rhinitis, 2.1% (39 cases) patients had asthma; (2) The morbidities of allergic rhinitis and asthma, the positive rates of eosinophil and allergen skin test, the occurrence rates of allergic symptoms were rising with the clinical stages in type I and type II, especially in type II stage 3; (3) There were 42.2% (795 cases) positive patients in allergen skin test, among them, 94% were sensitive to perennial allergens; (4) Allergic symptoms appeared in 26.3% (495 cases) patients, among them, 99.8% attacked perennially; (5) Of all patients, there were 38.9% (732 cases) had been operated cases before, among them 38.3% (280 cases) with allergy rhinitis. In chronic sinusitis with allergy rhinitis patients, 58.7% (477 cases) were suffered from operation.

CONCLUSIONSAllergic factors,especially perennial allergic rhinitis, are relative to clinical stages of chronic sinusitis and nasal polyps. Allergic rhinitis is an important factors in recurrence.

Adolescent ; Adult ; Aged ; Allergens ; analysis ; Child ; Child, Preschool ; Female ; Humans ; Hypersensitivity ; Male ; Middle Aged ; Nasal Polyps ; etiology ; immunology ; Retrospective Studies ; Rhinitis, Allergic, Perennial ; etiology ; immunology ; Sinusitis ; etiology ; immunology ; Young Adult

OBJECTIVETo evaluate the feasibility of retroperitoneal laparoscopic surgery combined with ureteroscopic lithotomy through the pelvis for treatment of renal and ureteral calculi.

METHODSIn February 2010, 2 patients with renal and ureteral calculi underwent retroperitoneal laparoscopic surgery combined with ureteroscopic lithotomy through the pelvis.

RESULTSThe operation time in these two cases was 70 and 80 min, and the volume of intraoperative blood loss was about 20 ml. The exposure was excellent, and the patient recovered rapidly without complications or residual calculi.

CONCLUSIONRetroperitoneal laparoscopic surgery combined with ureteroscopic lithotomy through the pelvis is feasible for treatment of renal and ureteral calculi.

Aged ; Female ; Humans ; Kidney Calculi ; complications ; surgery ; Kidney Pelvis ; Laparoscopy ; Male ; Treatment Outcome ; Ureteral Calculi ; complications ; surgery

To explore the effects of bone marrow cells expanded under different conditions on hematopoietic reconstitution, in the liquid expanded cultural system with several cytokines and/or bone marrow stromal cell layers, the BMMNC of mice were expanded for 5 days. Then the expanded cells were transplanted into the lethal-dose irradiated mice via the caudal vein. The hematopoietic reconstitution of transplanted mice were evaluated by detecting the number of bone marrow nuclear cells and various colony forming cells. The results showed that ex vivo expansion of bone marrow mononuclear cells mediated with cytokines under cultural conditions could not improve the hematopoietic engraftment in post-irradiated mice, but the expansion supported by bone marrow stromal cells could benefit the reconstruction significantly regardless of addition with cytokines. In conclusion, the ex vivo hematopoietic cell expansion supported by bone marrow stromal cells can maintain the properties of the hematopoietic stem/progenitor cells for hematopoietic reconstitution.
Animals ; Bone Marrow Cells ; cytology ; Bone Marrow Transplantation ; mortality ; Female ; Hematopoiesis ; Male ; Mice ; Mice, Inbred BALB C ; Stromal Cells ; physiology

Mesenchymal stem cells possess the ability to differentiate into osteoblasts, chondroblasts, lipoblasts, myoblasts and so on, which can be used in the formation of hematopoietic microenvironment, tissue repairing and gene therapy. Growth factors such as TGF-beta, IGF-I, BMP and FGF can influence on the differentiation of MSC and they cooperate with each other. MSCs support hematopoiesis by secreting cytokines including G-CSF, SCF, LIF, M-CSF, IL-6, IL-11 and are related to some diseases. MSC would demonstrate important effect on gene engineering.
Animals ; Bone Morphogenetic Proteins ; physiology ; Cytokines ; physiology ; Fibroblast Growth Factors ; physiology ; Genetic Engineering ; Humans ; Mesoderm ; cytology ; Multiple Sclerosis ; etiology ; Osteoporosis ; etiology ; Stem Cells ; physiology ; Transforming Growth Factor beta ; physiology

OBJECTIVETo explore the satisfactory rate in patients with body dysmorphic disorder (BDD) after cosmetic surgery.

METHODSWe designed a questionnaire to investigate the postoperative satisfactory rate in patients with BDD and without BDD.

RESULTSThere was significant difference in postoperative satisfactory rate between patients with BDD and without BDD.

CONCLUSIONThe patients with BDD have a lower satisfactory rate, which is even worse after repeated surgery.

Adult ; Body Dysmorphic Disorders ; psychology ; Body Image ; Female ; Humans ; Male ; Middle Aged ; Patient Satisfaction ; Surgery, Plastic ; Surveys and Questionnaires