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

[ 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.

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 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.

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 systematically investigate the pretreatment impact of proton pump inhibitor (PPI) on Helicobacter pylori (HP) eradication rate .Methods PubMed ,EMBASE ,Cochrane database ,Web of Science ,Clinical trial .gov ,SinoMed ,China National Knowledge Internet ,WANFANG Data ,VIP database and Google Scholar were used to search for randomized controlled trials(RCT) .HP eradication rate was calculated by per‐protocol analysis (PP) .RevMan 5 .2 was applied to analyze data .Results There were 10 articles included (982 cases) ,43 cases didn′t meet the program have been removed ,a total of 939 cases included .The result showed that there was no significant difference between the pretreatment of PPI group and the control group ,RR= 0 .99 (95% CI:0 .95-1 .04 ,P=0 .75) .Conducted a subgroup analysis according to eradication regimen ,regimen combining a PPI ,amoxi‐cillin and clarithromycin and regimen combining a PPI ,clarithromycin and metronidazole the pooled risk ratio were 1 .02(95% CI:0 .90-1 .14 ,P=0 .79)and 1 .02(95% CI:0 .92-1 .12 ,P=0 .74)respectively ,there were no significant difference as well .Conclusion The pretreatment with PPI does not affect HP eradication rates of triple or quadruple therapies for HP eradication .We can eradi‐cate HP directly for the patients who have used PPI but were diagnosed to be positive to HP .

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.