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 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 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.

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 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.

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 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.