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.

[ 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 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.

Objective To study the effectiveness of comprehensive control measures based on systematic ecological system construction to interrupt the transmission of schistosomiasis in hilly endemic regions in Sichuan Province ,so as to provide the ev?idence for adjustment of schistosomiasis prevention and control strategies. Methods A high endemic area of schistosomiasis, Panao Township of Dongpo District in Meishan City,was selected as a demonstration area. The comprehensive measures for schistosomiasis control with focus on systematic ecological management were implemented,and the income of residents,index?es of schistosomiasis control effect and so on were investigated before and after the intervention and the results were compared. Results The project based on systematic ecological system construction started in 2009 and 317.351 million Yuan was put into the construction. The construction included economic forest plant base(1 866.68 hm2,72.66%of the total farmland areas),eco?logical protection gardens(585.35 hm2)and so on. Totally 97.04% of historical areas with Oncomelania hupensis snails were comprehensively improved. In 2015,the peasants' pure income per capita increased 4 938 Yuan,with the average annual growth rate of 14.69%. All the farm cattle were replaced by the machine. The benefit rate of water improvement was increased by 52.84%and the coverage rate of harmless toilets increased by 18.30%. The positive rate of serological tests for schistosomiasis decreased from 7.69%to 3.50%,and the positive rate of parasitological tests decreased from 1.18%to 0. The area with snails was decreased from 23.33 hm2 to 0. The awareness rate of schistosomiasis control knowledge and correct behavior rate of the resi? dents increased from 85.50%and 82.60%to 95.70%and 93.90%respectively. Conclusions The comprehensive schistosomia?sis control measures based on systematic ecological management are conform to the currently actual schistosomiasis prevention and control work in hilly endemic regions,and have good ecological economic benefit and schistosomiasis control effectiveness, which provide an effectively new model of prevention and control for advancing process,consolidating the effect,finally realiz?ing goal of interruption and elimination of schistosomiasis in hilly endemic regions.

Objective To investigate the value of CEUS quantitative analysis in diagnosis of different pathological stages of small hepatocellular carcinoma (HCC).Methods Data of 112 patients with HCC confirmed by surgical or biopsy were analyzed retrospectively.All the diameter of single tumor or the sum of the largest two lesions in multiple tumors were within 3 cm.Three groups were classified based on the Edmonson stage:High differentiation group (n=50,stage Ⅰ or Ⅱ),median differentiation group (n=30,stage Ⅲ),low differentiation group (n=32,stage Ⅳ).Qontraxt ultrasound imaging analysis software was utilized to measure CEUS parameters,including the maximum intensity of tumor (TMAX),nontumor's intensity (NT),maximum intensity of nontumor (NTMAX),appear time,time to peak,washout time,and the ratio of TMAX/NT and TMAX/NTMAX were calculated.The differences among the three groups was compared by statistics test.Results The values of TMAX,TMAX/NTMAX and washout time were statistically different among the three groups (all P＜0.05).The maximum values of TMAX,TMAX/NTMAX and the shortest washout time were found in the low differentiation group.And the minimum values of TMAX,TMAX/NTMAX and the longest washout time were found in the high differentiation group.There were no statistical differences of NT,NTMAX,TMAX/NT,appear time and time to peak among the three groups (all P＞0.05).Conclusion The quantitative parameters of CEUS is helpful in distinguishing different Edmonson stage of small HCC.