Skeletal dysplasia(SD)is a group of genetic disorders resulting from disruption of normal skeletal growth and development, characterized by heterogeneous and overlapping phenotypes. Molecular diagnosis is required to help physicians further identify the type, etiology and prognosis of the disease. A great number of discoveries of pathogenic mutations has been made largely due to extensive use of whole exome sequencing(WES)and the genomic technique. Here we review the most recent molecular genetic studies of SD using WES technique.

Objective:To assess the association between preoperative neutrophil–lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), and red cell distribution width (RDW) and the tumor pathological features in gastric cancer (GC) patients. Methods: We re-viewed the records of 434 patients from 2012 to 2014 in Fujian Cancer Hospital. All patients were admitted to the hospital for the first time, and no patients received any cancer-specific pretreatment. For comparison, 309 age-and gender-matched healthy individuals who underwent annual physical examination at the hospital and 342 patients with chronic atrophic gastritis were enrolled. Results:GC patients had higher NLR, PLR, and RDW than the controls (P<0.000 1). Elevated NLR, PLR, and RDW were associated with the develop-ment of tumor stages as indicated by the Kruskal-Wallis analysis. However, no similar association was observed between the tumor dif-ferentiation grade and location and those three markers. Multivariate regression analysis further revealed that both NLR and PLR were independent predicting factors for either the tumor TNM or T stage (P<0.000 1). ROC curve analysis showed that NLR and PLR had a certain diagnostic effect on the preoperative T staging of GC. Conclusion:The preoperative NLR and PLR levels are closely correlated with the tumor TNM stages in GC patients. Both these parameters have potential values as markers to assist either in early diagnosis or preoperative tumor stage evaluation in GC.

Objective To obtain highly purified oligodendrocyte precursor lineage cells in vitro and make identification.Methods The oligodendrocyte precursors were separated from astrocyte by orbital shaker and further purified by differential adhesion,and finally cultured in chemically defined serum-free medium,with appended neurotrophin 2(N2),platelet-derived growth factor(PDGF),basic fibroblast growth factor(bFGF).Immunofluorescence assay was applied to identify the separated cells with A2B5,O4,O1 and glial fibrillary acidic protein(GFAP) antibodies.Results Over 95% of cultured oligodendrocyte precursor cells were obtained.The oligodendrocyte progenitors were A2B5 and O4 positive,immature oligodendrocytes were O4 and O1 positive while GFAP were negative.Conclusions Separation and purification by shaking and differential adhesion and chemically defined medium are suitable and effective to obtain highly purified oligodendrocyte precursor cells.Cell output will increase notabily and rest in immature phase by appending both N2,PDGF and bFGF.

Objective To select more rapid,sensitive and specific method in detection of respiratory syncytial virus(RSV)directly from clinical specimens.Methods RSV was detected by virus isolation in tissue culture,direct smears and detection by indirect immunofluorecence assay(IFA),rapid culture assay,sandwich enzyme linked immunosorbent assay(ELISA)as well as labbed streptavidin biotin method(LSAB)from 45 specimens(nasopharyngeal aspirates,NPAs) collected from infants and young children with acute lower respiratory tract infection.Results Of 45 NPAs,12 cases(26.7%) were positive by virus isolation,14 cases(31.1%) were positive for RSV by direct detection of RSV antigen by IFA,20 cases(44.4%) were positive with rapid culture assay,4 cases(8.9%)were positive by sandwich ELISA,4 cases(8.9%)were positive by LSAB.Conclusion Rapid culture assay and direct detection of RSV in NPAs direct smears by IFA are rapid,sensitive method in the diagnosis of RSV infections.

Objective To investigate the expression of SEL1L and p63 protein in esophageal squamous cell carcinoma and precarcinomacous lesion.Methods Immunohistochemical staining(EnVision method)was employed to detect the expression of SEL1L and p63 protein in 60 samples of esophageal squamous cell carcinoma,32 samples of high grade esophageal intraepithelial neoplasia,13 samples of low grade esophageal intraepithelial neoplasia and 33 samples of normal esophageal mucosa.Results The positive rate of SEL1L protein expression was 61.5%in low grade intraepithelia neoplasia,90.6%in high grade intraepithelial neoplasia and 96.7%in esophageal squamous cell carcinoma,significantly higher than that in normal esophageal mucosa(6.1%)(P0.05).Conclusion Both the expression of SEL1L and p63 protein increases steadily in the progression of esophageal squamous cell carcinoma,which indicates that the two genes may play a role and cooperate with each other in the carcinogenesis.

Acute Disease ; Asthma ; drug therapy ; Bronchodilator Agents ; administration & dosage ; adverse effects ; therapeutic use ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infusions, Intravenous ; Male ; Theophylline ; administration & dosage ; adverse effects ; analogs & derivatives ; therapeutic use ; Treatment Outcome

Objective To explore the dose-effect relationship and optimal concentration of sodium taurocholate (NaTc) to establish acute necrosis pancreatitis (ANP) complicating MODS in a rat. Methods 280 SD rats were randomly divided into control group (n =40) and 3.5%, 4%, 4.5%, 5% ANP group (n = 60, respectively). ANP groups were induced by retrograde injection of NaTc solution into the pancreatic duct of rats. Rats in each model group were sacrificed at 1, 3, 6, 12 and 24 h after the model induction. Serum amylase, serum total bilirubin, creatinine, blood gas analysis, and pathological changes of pancreas were determined. Survival rate at 24 h after the model induction was observed in other 20 ANP rats in each group. Results In each groups, the serum amylase level, creatinine, blood gas analysis and pathological changes all increased corresponding to the increase of NaTc, and there was significant dose-effect relationship and time-effect. In 4.5% group, the dysfunction of liver and kidney reached the peak at 6 h,while the respiratory dysfunction reached its peak at 12 h. Its incidence of MODS was 52.5%, which was significantly higher than those in 3.5%, 4.0% group (15.0% and 37.5%) ;and 24 h survival rate of 4.5% group was 65%, which was significantly higher than that in 5% group (30%). Conclusions 4.5% NaTc solution may be the optimal concentration to establish the ANP model, which had higher incidence of MODS and 24 h survival rate.

Objective To investigate the time-course change of intra-abdominal pressure (IAP), TNF-α in rat with acute necrotizing pancreatitis (ANP) and its mechanism. Methods 80 SD rats were randomly divided into ANP group and control group. ANP group was induced by retrograde injection of 4.5% sodium taurocholate into the pancreatic duct in SD rats, while control group was induced by injection of saline at the same dosage. Eight rats in each group were killed at 1 h, 3 h, 6 h, 12 h and 24 h, respectively. The serum levels of amylase, TNF-α were determined;IAP, amount of abdominal ascites, pancreatic pathologic changes were evaluated. Results The levels of amylase in ANP group increased progressively with time, which were 32-folds higher than those in control group at 24 h. The serum levels of TNF-α in ANP group reached the peak at 6 h, and were significantly higher than those in the control group. The amount of abdominal ascites increased post-ANP induction and reached the peak at 24 h, which was 4.7-folds higher than that in the control group. The IAP significantly increased 1 h after induction, which was 3 times as high as the control group in 3 h group and 9 times in 12 h group. Pathologic injuries deteriorated progressively and reached the peak at 24 h. Conclusions Significant IAP occurred in ANP rats and reached the peak at 12 h, TNF-α reached the peak at 6 h, therefore IAP may be the secondary response to inflammatory reaction.

Objective To approach the expressions and the roles of connective tissue growth factor (CTGF) and membrane type 1 matrix metalloproteinases (MT1-MMP) in valve disease with pressure overload which induces extracellular matrix remodeling of left ventricle. MethodsOf 32 patients, 16 cases were pressure overload group (PO), who had the multiple valve disease with predominately aortic valve stenosis, having a ring diameter of aorta valve less than 1.3 cm, cross valve pressure gradient equal or more than 40 mmHg, and valvular regurgitation less than 4.0 cm2; The other 16 cases, as mitral stenosis group (MS), were simple mitral stenosis patients with single valve replacement. Meanwhile, 5 normal individuals served as control, who died from accident. Echocardiography was used to analyze the left ventricular function and detect the hypertrophic level of the left ventricle. Left ventricle muscle samples were obtained during operation. Histological features were studied by Masson staining, and collagenous contents were quantitated with a computer-assisted imaging analysis system. The mRNA expressions of CTGF and MT1-MMP were detected with RT-PCR. ResultsConcentric hypertrophy was observed significant in PO group, but myocardial hypertrophy was not found in MS group. Compare to the MS group and control, PO group had significantly more collagenous contents in left ventricle, thickened vessel wall, and narrow lumen of blood vessel (P0.05), but CTGF mRNA expression was increased in MS group compare to control (P

OBJECTIVE:To observe the efficacy of small dose of uremic clearance granule combined with colon enema on aged patients with chronic renal failure(CRF) . METHODS:60 aged CRF patients were randomly divided into treatment group(n=30) and control group(n=30) . Two groups were given essential treatment. Control group were treated with medicinal carbon additionally. Treatment group were additionally treated with uremic clearance granule(p.o.) combined with colon enema. The course of treatment was 15 days and curative effects were compared between two groups after 30 days of treatment. RESULTS:30 days later clinical symptom of patients in treatment group was obviously improved and the levels of blood urea nitrogen,serum creatinine,blood uric acid and serum potassium were lower than before treatment with significant difference. CONCLUSION:Small dose of uremic clearance granule combined with colon enema show satisfactory effect on CRF in aged patients as well as simple,practical and good compliance. This therapy is worth of spreading and putting into application.