Noonan syndrome(NS) is a congenital genetic disease characterized by distinctive facial features,short stature,chest deformity,congenital heart disease,and other comorbidities.This article reviewed the research history of NS,the clinical manifestations and their relationship with genotype,the diagnosis and treatment.

Objective To evaluate the ability of 3-AB to sensitize the human esophageal carcinoma cell strain (CaEs-17) to radiation in v/tro and its mechanisms. Methods CaEs-17 cells were treated with 3-AB at 0, 2.5, 7.5 mmol/L and given irradiation O, 3, 6, 9, 12 Gy. 3-AB concentration in each group was made dose-survival curve using multi-target single-hit maiths model by clonogenie assay. MTT assay was performed to observe the survival of irradiated cells.comet assay and metaphase chromosome analysis were used to measure the DNA damage degree and chromosome aberration of CaEs-17 cell after 3-AB treatment and irradiation. Results Cell survival experiments showed SER of 1.21, 1.52 for 2.5 mmol/L, 7.5 mmol/L 3-AB respectively using multi-target single-hit maths model. The survival fraction of irradiated CaEs-17 cell was decreased after 3-AB treatment. DNA damage and the chromatid breakage number of irradiated CaEs-17 cells were increased after 3-AB treatment. Conclusions 3-AB, a PARP inhibitor, can enhance the radiosensitivity of human esophageal carcinoma cell strain (CaEs-17). DNA damage repair inhibition by 3-AB might be one of the mechanisms.

Objective To explore the signal mechanism of proliferation stimulating effect of connec-tive tissue growth factor (CTGF) on hypertrophic scar (HS) derived fibroblasts. Methods <'3>H-TdR in-corporation technique was used to determine the proliferative effect of CTGF at different concentration. Western blot was applied to semi-quantitively analyze the expression of phosphorylated and total ERK1/2 protein after 0, 5, 10, 15, 30, and 60 min of CTGF stimulation, and the relative value of which was de-fined as AI to measure the activation of ERK1/2 signal pathway. PD98059 was admitted to specifically block the ERK1/2 pathway, and subsequently cell proliferation stimulated by CTGF was studied by MTT. Results CTGF could stimulate fibroblasts proliferation with a dose-dependant manner, and activa-ted the ERK1/2 signal pathway, and AI built up to 0.209±0.0201, reaching the apex at 15 min after stimulation performed. Inhibition of ERK1/2 activation by PD98059 suppressed CTGF-mediated HS fi-broblasts proliferation significantly, while OD significantly dropped. Conclusion CTGF induces a prolif-erative response in HS fibroblasts, and this action is mainly dependent on the activation of ERK1/2 signal pathway.

Objective To evaluate the clinical application and midterm result of mitral valve repair with multiple techniques for patients with complex mitral valve regurgitation. Methods From January, 2000 to July, 2006, 34 patients with complex mitral regurgitation, including 24 males and 10 females, aged 23 - 65 years [ average (42.8 ± 11.7) years ], comprised the study group. The data of the cardiac function (NYHA/EF), the diameter of left ventricular, left atria and the degree of mitral regurgitation were analyzed before and after operation. Results There was no mortality or major morbidity or reoporatien. Patients were followed up from 1 to 54 months [ average (31.2 ± 19.4) months]. The degree of mitral valve regurgitation decreased significantly after operation. The mean degree of pre-operatien mitral regurgitation was 3.62 ± 0.49, and follow-up degree was 1.18 ± 0.99 ( P ＜ 0.05) respectively.The diameters of left ventricular and left atria reduced. The postoperative cardiac function improved apparently. EF increased from 0.55 ± 0.11 preoperatively to 0.57 ± 0.10 postoperatively ( P = 0.06). Conclusion The comprehensive application of multiple techniques in repairing complex mitral valve regurgitation may be effective, and with a satisfying midterm results.

Objective To investigate pathogenic factors,clinical characteristics,pathological changes in 6 patients with localized or disseminated intestinal neuronal dysplasia(IND).Methods The clinical retrospective study was performed in 6 cases with localized and disseminated IND.Results In 6 patients,constipation and partial intestinal obstruction were the major symptoms.Preoperatively,dia-gnoses were revaluated as intestinal stenosis in 2 cases,long sigmoid in 2 cases and long-segment aganglionosis and total gastrointestinal IND in the rest 2 cases,respectively.Exploratory laparotomy was performed on all these patients.Pathological study suggested that 4 of them were localized IND,on whom enterectomy and intestinal anastomosis were performed successfully.However,2 cases of disseminated IND died postoperatively.Conclusions Disseminated IND may be caused by congenital factors,while localized IND by the acquired factors which including intestinal obstruction,local ischemia or inflammation.The surgical interventions are effective for localized IND,and intestine transplantation might be prospective treatment for disseminated IND.

BACKGROUND: Bone marrow mesenchymal stem cells are prospective used in cartilage tissue engineering due to easy acquire and plentiful amplification in vitro in a short term.OBJECTIVE: To summarize the application of bone marrow mesenchymal stem cells in repairing cartilage defect.RETRIEVAL STRATEGY: A computer-based online search was conducted in Pubmed for English language publications containing the key words of "marrow; mesenchymal stem cells; cartilage defect" from October 1982 to December 2006, Relevant data were also searched in China Scientific and Technological Achievement Database for Chinese language publications containing the key words of "marrow; mesenchymai stem cells; cartilage defect" from October 1982 to December 2006. There were 126Exclusion criteria: duplicated articles.LITERATURE EVALUATION: Literatures including reviews and experimental studies were mainly derived from Pubmed database and China Scientific and Technological Achievement Database.DATA SYNTHESIS: It has been proved that bone marrow mesenchymal stem cells could differentiate into cartilage in vivo.However, differentiation of cartilage phenotype in vitro was restricted by multiple factors, and the controlling mechanism is still unclear up to now. Animal experiments demonstrated that bone marrow mesenchymal stem cells could repair bone and cartilage defect. Although studies on bone marrow mesenchymal stem cells and cartilage tissue engineering have developed to a certain degree, clinical applications and evaluations, including cell marks of bone marrow mesenchymal stem cells in different differentiated stages, controls of proliferation and differentiation of bone marrow mesenchymal stem cells, and gene transfection technique, still need a further study.CONCLUSION: Animal experiments indicate that bone marrow mesenchymal stem cells can significantly repair bone and cartilage defect. Although studies on bone marrow mesenchymal stem cells and cartilage tissue engineering have developed to a certain degree, problems of bone marrow mesenchymal stem cells in basic and clinical researches still need to be solved further.

Child, Preschool ; Humans ; Lead Poisoning, Nervous System, Childhood ; complications ; Male ; Optic Neuritis ; etiology

Objective To determine the electrical conductivity of cerebrum, liver, lung and muscle of rats at different postmortem intervals for investigating the relationship between EC and PMI. Methods Healthy Sprague-Dawley rats were sacrificed and kept at constant temperature of 25°C. Cerebrum, lung, liver and muscle were extracted at different PMIs of immediate (0d), 1d, 2d, 3d, 4d, 5d, 6d and 7d, and their extraction liquids were prepared with ultrapure water at the ratio of 1g:10mL. EC were separately determined for different tissues and organs. The relationships between EC of different tissues and organs and PMI were analyzed and their regression functions were established. The characteristics of EC values for four tissues and organs were compared and their decomposition processes were discussed. Results EC of brain and muscle showed no significant changes within 1d, and increased rapidly during 2~7d; but EC of liver and lung started to increase within 1d and increased rapidly during 2~7d.The relationship between EC of different tissues and organs and PMI were well fitted with cubic equations and liver gained the highest coefficient (R2=0.96). Additional, the EC of four organs presented various increasing laws in different periods of PMI. Conclusion The EC of cerebrum, lung, liver and muscle of rats were well fitted with PMI and the determination of EC of cadaver tissues can be expected to become an effective method for PMI estimation in forensic practice.

Objection To observe the change rules of quantity and species of diatom sin Hunhe River in Shenyang and to provide technology and scientific evidence for drow ning identification and the location of drow ning in forensic investigation. Methods In 2011, different locations for collecting water sam pleswere chosen in Hunhe River in Shenyang. Water sam pleswere collected and variation of quantity and species of diatom swere observed every month. And variation of dom inant species of diatom swas ob-served every week. Results The quantity, speciesand dom inant species of diatom sin Hunhe River in Shenyang varied with different tim eand locations. The quantity and species of diatom swere lowest from Decem ber to February and gradually increased, reaching peak in May and second peak in October, and then gradually decreased. The dom inant species of diatom s varied significantly adjacent two weeksat same location from April to N ovem ber, but had little changesat different locationsin same week from July to August. Conclusion The change rules of quantity and species of diatom sare com plicated and affected by various factors such as environm ent and hydrology. The change rules of speciesand quantity of diatom s should be considered in forensic investigation of drow ning identification and the lo-cation of drow ning.

Objective To compare the effects of different methods of getting out of bed for the first time in patients receiving lumbar disc herniation operations.Methods Totally 60 patients receiving lumbar disc herniation operations were divided into the experimental group and the control group with 30 patients in each group.The patients in the experimental group got out of bed with prone position.The patients in the control group got out of bed with lateral position.The pain scores and degrees of comfort were recorded.Results The experimental group scored 5.4±1.3 in pain degree,and the control group scored 6.1±1.8,t=0.37,P ＞ 0.05,the difference was not significantly different.The experimental group scored 85.7±10.9 in comfort degree,and the control group scored 70.6±11.5,t=4.21,P ＜ 0.05,the difference was significantly different.Conclusions The method of getting out of bed with prone position can reduce negative emotions of patients receiving lumbar disc herniation operations and improve degrees of comfort.