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.

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 investigate the quality of life (QOL) in elderly patients with chronic diseases living at home and its influencing factors.Methods 1856 elderly patients with chronic diseases living at home were selected by random cluster sampling from two communities.All patients were investigated by SF-36 questionnaire and self-made questionnaire.Results The average QOL scores were (63.8±15.1) in elderly patients with chronic diseases living at home.Scores of SF-36's eight dimensions were respectively (67.8± 22.6) in physiological function,(47.3± 39.4) in role physical,(90.2±14.3) in bodily pain,(52.3±11.9) in general health,(64.1 ± 17.1) in vitality,(74.0 ± 20.9) in social function,(49.7 ± 39.5) in emotional function,(65.0 ± 16.9) in mental health.Scores of SF-36 in each dimension were lower in patients aged 75 years and above than in patients aged 60-74 years (all P＜0.05).Scores of SF-36's dimensions including physical function,bodily pain,vitality,social function and mental health in patients aged 75 years and above were lower in males than females (all P＜0.05).Multiple stepwise regression analysis showed that the major influencing factors for the QOL in elderly patients with chronic diseases living at home were movement,hobbies,age,caregivcr,family support,number of chronic diseases,education status,and alcohol consumption (all P＜0.05).Conclusions The major influencing factors for quality of life in elderly patients with chronic diseases living at home are included demographic,behavior and family factors,etc.Comprehensive community interventions should be taken to improve the quality of life in this elderly population.

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.

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.

[ ABSTRACT] AIM:To investigate the protective effect of 1, 3-dicyclopentyl-1, 2, 3, 6-tetrahydropyrimidine-4, 5-dicarboxylic acid diethyl ester (ZL-5015) on lethal endotoxin-challenged mice and to explore the underlying mechanism. METHODS:Mouse model of lethal endotoxin challenge and endotoxemia were established by intraperitoneal administration of lipopolysaccharide (LPS) at a dose of 70 mg/kg to the C57BL/6J mice.Mouse peritoneal macrophages stimulated with LPS (10 mg/L) were used as an in vitro inflammatory model.The levels of interleukin-1β( IL-1β) , interleukin-10 ( IL-10) and tumor necrosis factor-α(TNF-α) were measured by enzyme-linked immunosorbent assay (ELISA).Real-time PCR was used to evaluate the mRNA expression of the cytokines.RESULTS:Prophylactic treatment of the mice with ZL-5015 (100 and 200 mg/kg, ig) slightly increased the survival rate, extended the survival time, decreased the serum levels of IL-1βand TNF-α, and increased the serum level of IL-10 in the early stage of endotoxemia as compared with model group.The results of in vitro study demonstrated that treatment of the endotoxin-stimulated mouse peritoneal macrophages with ZL-5015 (10, 20 and 40μmol/L) inhibited the expression of IL-1βand TNF-αat both mRNA and protein levels but promoted the expression of IL-10 at both mRNA and protein levels.CONCLUSION: The tetrahydropyrimidine derivative ZL-5015 shows a moderate anti-endotoxin effect by increasing the survival rate and extending the survival time of the mice challenged by endotoxin, which may result from inhibition of the expression of pro-inflammatory cytokines such as IL-1βand TNF-α, and promotion of the expression of anti-inflammatory cytokine IL-10.

Spontaneous intracerebral hemorrhage (ICH) refers to primary non-traumatic parenchymal hemorrhage.Its mortality and disability are extremely high.A simple and easy clinical grading scale for ICH can not only evaluate the prognosis of patients,but also has an important guiding significance for clinical treatment and clinical research.This article reviews the contents of major intracerebral hemorrhage scales,external validation,advantages and disadvantages,and explains its scope of application and clinical application.

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.