Objective To study the mutation of STK11 gene in a Chinese family and a sporadic patient with Peutz-Jeghers syndrome (PJS),and to provide a basis for genetic diagnosis and counseling.Methods One sporadic patient and two patients from a family with PJS were collected,all of whom had typical mucosal pigmentation and gastrointestinal polyposis.Blood samples were obtained from the two patients and six unaffected relatives in this family,the sporadic patient,and 100 healthy controls.DNA was extracted,and PCR was performed to amplify nine exons and their adjacent introns in the STK11 gene followed by direct sequencing.The sequencing results were aligned to the published sequence of STK11 gene from Genbank.Results No mutation was found in the STK11 gene of any of the patients,unaffected relatives,or healthy controls.Conclusions Genetic heterogeneity exists in Peutz-Jeghers syndrome,hinting that there may be other causative genes or sites for this entity.

Anemia, Macrocytic ; Chromosome Deletion ; Chromosomes, Human, Pair 5 ; Cri-du-Chat Syndrome ; Humans ; Trisomy

? AlM: To examine choroidal thickness and its relationship with axial length and spherical equivalent by spectral domain optical coherence tomography ( SD -OCT ) in patients with myopic choroidal neovascularization ( mCNV) .
?METHODS: We prospectively recruited 30 cases of mCNV in Beijing Anzhen Hospital from October 2010 to December 2014. SD-OCT was used to measure choroidal thickness subfoveally and at 1. 5mm superiorly, inferiorly, nasally and temporally ( SFCT, SCT1. 5mm , lCT1. 5mm , NCT1. 5mm , TCT1. 5mm ) . Paired t- test was conducted to assess the difference of spherical equivalent, axial length and choroidal thickness between mCNV group and controls. Logistic regression analysis was performed to evaluate the correlation between spherical equivalent, axial length, choroidal thickness and mCNV.
?RESULTS: The difference of spherical equivalent and axial length between mCNV group and controls was not significant (P>0. 05). lnferior was decreased in mCNV group compared with controls (140. 85±33. 46μm vs 168. 95±45. 36μm). The difference was significant (P=0. 008). Logistic regression demonstrated that decreased choroidal thickness ( lCT1. 5mm ) at inferior location was associated with mCNV (OR=2. 12;95%CI 1. 35~3. 28;P=0. 02).
?CONCLUSlON: The decrease of lCT1. 5MM may be one of the risk factors of mCNV.

Objective To understand the current situation of occupational exposure and occupational safety attitudes among nursing students in Kunming Medical University, and to find effective interventions to improve nurses' occupational safety,and to reduce occupational exposure.Methods 854 students in Kunming Medical University were investigated by a questionnaire survey, including Demographic characteristics, Occupational exposure conditions, Occupational safety attitude and Gathers, quit intention . The correlations between occupational safety attitudes and occupational exposure were analyzed with Simple Linear Correlation.Results There were 94.30%female respondents,and only 5.70%male respondents.The average age of respondents was 22.52±2.90 years. The Simple Linear Correlation analysis showed that correlation between Negative attitude and occupational exposure was positive correlated, the occupational exposure and Support from managers, and Optimistic were negative correlation ( <0.05) .Conclusions Occupational safety and attitude are related to occupational exposure. Nursing students should apply standardized operation to improve the professional quality and ability. Schools should strengthen the education of occupational protection for nursing students. Hospital management should regularly organize nurses to study occupational exposure protection knowledge,give full affirmation of the nurse's achievements in the work, and offer certain reward appropriately.

Animals ; Atherosclerosis ; diet therapy ; physiopathology ; Humans ; Plaque, Atherosclerotic ; drug therapy

The study aims to investigate the embryo-fetus development toxicity of the novel PPAR-δ agonist HS060098 on SD rats. The pregnant rats that were randomly divided into the solvent control group (1% hydroxypropyl methyl cellulose water solution) and HS060098 suspension groups (10, 30 and 100 mg x kg(-1) xd(-1)) were orally administered with HS060098 suspension or vehicle during the gestation of 6 -15 days (GD6-15). At termination (GD20), female rats were sacrificed. The pregnant females were evaluated by corpora lutea count, implantation sites, existence and death of embryos. Fetal sex, weight, externals, variations and malformations of viscus and skeleton were observed. The results show that there were no significant abnormality in maternal general conditions and fetal appearance as well as viscera, but in the 100 mg x kg(-1) x d(-1) group, the maternal weight gain decreased greatly (P < 0.01) and the skeletal ossification delayed remarkably (P < 0.01); in the 30 mg x kg(-1) xd(-1) group, the fatal and litter number of incompletely ossified sternebrae II was higher than those of the control group (P < 0.05); the skeletal malformations occurred in all dose groups, which indicate that the novel PPAR-δ agonist HS060098 had maternal toxicity and adversely effected fetal skeletal development under the experimental conditions.
Animals ; Bone and Bones ; drug effects ; Embryonic Development ; drug effects ; Female ; Fetal Weight ; PPAR delta ; agonists ; Pregnancy ; Rats ; Toxicity Tests

The essence of myelodysplastic syndrome (MDS) is a malignant clonal bone marrow myeloid neoplasm. Both basic researches and clinical studies should firmly grasp this essence of MDS and should not be interferenced by confounding factors. Comprehensive diagnosis can improve the accuracy of MDS diagnosis by multiple indicators that reflect the malignant nature, such as cell dysplasia, function abnormalities, cytogenetic changes and gene mutations. The therapy of MDS should also eradicate the MDS clone, change the disease progression, stimulating normal hematopoiesis, prolong the survival and improve the quality of life.

Objective The purpose of this paper is to screen inborn errors of meta bolism (IEM) by analyzing urinary components, so as to provide laboratory guide for their diagnosis and therapy.Methods Urine samples of patients suspected to have IEM were collec- ted.Urea was de compo sed with urease and n-heptadecanoic acid was added as internal standard.Protein was denatured with ethanol and precipitate was removed by centrifugation,dried b y evaporation, the residue was trimethylsilylly derivatized with BSTFA/TMCS,and then analyzed with GC-MS for quantification of organic acids, amino acids,suga rs, polyols, purines and pyrimidines, simultaneously. This procedure is denom inated as urease pretreatment-gas chromatography-mass spectrometry (UP-GC-MS) internationally.Results Urinary samples of 327 patients from 6 provinces, cities and autonomous regions were analyzed,and 16 kinds of 27 cases of IEM were screened out with a positiv e rate of 8.26%,among which there were 3 cases of hyperphenylalaninemia,3 cases of glyceroluria,3 cases of Leigh syndrome, 2 cases of propionic acidemia, 2 case s of methylmalonic aciduria, 2 cases of von Gierke′s disease, 2 cases of fructo se-1,6-diphosphatase deficiency, 2 cases of fructosuria, 1 cases of multiple car boxylase deficiency, 1 cases of glutaric acidemia typeⅠ, 1 cases of maple sy rup urine disease, 1 cases of hyperglycinemia, 1 cases of 3-aminoisobutyric acid uria,1 cases of adult-onset typeⅡcitrullinemia,1 cases of galactosemia and 1 ca ses of Fanconi′s syndrome.Several IEM patients above had died,but satisfactory therapeutic effects had been achieved in some diseases,in cluding multiple carboxylase deficiency,methylmalonic aciduria and galactosemia. Other patients′ condition remained to be followed up.Conclusion Analysis of urinary components by UP-GC-MS provides a valuable tool for screenin g of IEM and the results will help to provide effective diagnostic and therapeut ic guide for the patients. J Appl Clin Pediatr,2005,20(2):142-144

Objective To establish a new determination method for the measuring of alkaline phosphatase activity (ALP) with p-acetyl phenyl phosphace (PAP-PNa_2) as substrate.Methods With the help of Vital semiautomatic analyzer,researched a continuous-monitoring procedure and set up experimental parameters.Results When using this assay,the wavelength of PAP's absorption was 325 nm and the Km of ALP was 0.376 mmol/L.The molecular extinction coefficient of PAP at 340 nm was 23 390 L?mol~(-1)? cm~(-1) and the concentration of citrate buffer was 0.438 mol/L.During the process,we found that the optimum pH of enzyme was 10.4,and the concentration of substrate was 5.0 mmol/L.The time of linear reaction was 900 seconds,and the linear range was 0-1 110 U/L.Serum total ALP were 63.1-118.3 U/ L(male) and 52.5-89.0 U/L(female),based on results from 60 heath adults.Conclusions The method is practical in its repetition and convenience,saves time and is not liable to be affected by bilirubin in serum.It is especially suited to the use of automatic analyzers.

Objective:To study the effects of Tongxinluo,a traditional Chinese medicine,on the proliferation of peripheral blood-derived endothelial progenitor cells(EPCs)in vitro.Methods:The Tongxinluo solution was prepared through ultrasonication according to the pervious literature.The mononuclear cells(MNCs)were isolated from the peripheral blood with Ficoll by density gradient centrifugation.MNCs were suspended in Medium 199 containing 20% fetal blood serum(FBS)and vascular endothelial growth factor(VEGF).After cultured for 7 d,the attached cells were characterized by Di-LDL uptaking and FITC-lectin binding by laser confocal microscope,and further identified through detection of CD34 and CD133 expression by flow cytometry.Then the cultured EPCs were incubated with Tongxinluo at a series of concentrations(0,50,100,200,500, 750,1000?g/ml)for different durations(0,6,12,24 and 36 h).The cell morphology was observed and cell proliferation was determined by MTT assay.Results:Incubation with different concentrations of Tongxinluo increased the proliferative ability of EPCs.Tongxinluo at 500?g/ml had the most prominent effect on proliferation and the effect increased as time went by and reached peak at 36 h(growth rate 54.18%,P