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 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 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 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 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 .