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 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.

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.

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 investigate the rates of depression and its risk factors in elderly hypertensive patients and healthy residents in Fuzhou.Methods 882 elderly primary hypertensive patients aged 60 years and over and 1230 healthy elderly residents were assessed by the geriatric depression scale (GDS) and a self-made general information questionnaire, and SPSS 16.0 was used to analyze data.Results The average score of depression and the incidence of depression were higher in elderly hypertensive patients than in healthy elderly residents [(12.43±5.01) vs.(11.53±5.13), 64.4％ vs.55.3％, t=-3.849, x2=16.386, P＜0.01].Compared with healthy controls, scores of depression were higher for all age groups in elderly married male patients, with low levels of education (junior middle school or below), a monthly income less than 2000 yuan, and partial or no medical insurance coverage (P＜ 0.05 for all).Scores of depression were higher in elderly hypertensive patients who had smoking or drinking habits, social activity, hobby, or physical exercise than in healthy controls, (P＜0.05 for all).Scores of depression were also higher in elderly hypertensive patients who had family support, barely enough or adequate family expenses or family support than in healthy controls, regardless of living conditions (P＜0.05 for all).Multiple stepwise regression analysis showed that risk factors for depression in elderly hypertensive patients were family support, age, medical insurance coverage, family expenses, living conditions, hobbies, and gender, while risk factors for depression in healthy elderly residents were family support, interests, medical insurance coverage, and age.Conclusions The incidence of depression is higher in elderly hypertensive patients than in health elderly people in communityin Fuzhou.Family support, hobbies, medical insurance coverage and age are the common risk factors for depression in both elderly hypertensive patients and healthy residents.Family expenses, living conditions and gender are important risk factors for depression in elderly hypertensive patients.